Skocz do pozycji: 1.

Tytuł:

Synergy of Mutation-Induced Effects in Human Vitamin K Epoxide Reductase: Perspectives and Challenges for Allo-Network Modulator Design.

Autorzy:

Botnari M; Centre Borelli, École Normale Supérieure (ENS) Paris-Saclay, Centre National de la Recherche Scientifique (CNRS), Université Paris-Saclay, 4 Avenue des Sciences, F-91190 Gif-sur-Yvette, France.
Tchertanov L; Centre Borelli, École Normale Supérieure (ENS) Paris-Saclay, Centre National de la Recherche Scientifique (CNRS), Université Paris-Saclay, 4 Avenue des Sciences, F-91190 Gif-sur-Yvette, France.

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Źródło:

International journal of molecular sciences [Int J Mol Sci] 2024 Feb 07; Vol. 25 (4). Date of Electronic Publication: 2024 Feb 07.

Typ publikacji:

Journal Article

MeSH Terms:

Mutation, Missense*
Vitamin K Epoxide Reductases*/genetics
Vitamin K Epoxide Reductases*/metabolism
Humans ; Mutation ; Oxidation-Reduction ; Vitamin K/metabolism

Czasopismo naukowe

• na półce

Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły

Skocz do pozycji: 2.

Tytuł:

Analysis of Hereditary FXII Deficiency Caused by Three Mutations Including a Novel Mutation

Autorzy:

Ye L; The First Affiliated Hospital of Wenzhou Medical University, Key Laboratory of Clinical Laboratory Diagnosis and Translational Research of Zhejiang Province, Department of Clinical Laboratory, Wenzhou, China
Liu M; The First Affiliated Hospital of Wenzhou Medical University, Key Laboratory of Clinical Laboratory Diagnosis and Translational Research of Zhejiang Province, Department of Clinical Laboratory, Wenzhou, China
Yang L; The First Affiliated Hospital of Wenzhou Medical University, Key Laboratory of Clinical Laboratory Diagnosis and Translational Research of Zhejiang Province, Department of Clinical Laboratory, Wenzhou, China
Wang M; The First Affiliated Hospital of Wenzhou Medical University, Key Laboratory of Clinical Laboratory Diagnosis and Translational Research of Zhejiang Province, Department of Clinical Laboratory, Wenzhou, China
Xie Y; The First Affiliated Hospital of Wenzhou Medical University, Key Laboratory of Clinical Laboratory Diagnosis and Translational Research of Zhejiang Province, Department of Clinical Laboratory, Wenzhou, China

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Źródło:

Turkish journal of haematology : official journal of Turkish Society of Haematology [Turk J Haematol] 2024 Mar 01; Vol. 41 (1), pp. 66-68. Date of Electronic Publication: 2024 Feb 01.

Typ publikacji:

Journal Article

MeSH Terms:

Mutation, Missense*
Factor XII*/genetics
Humans ; Mutation

Czasopismo naukowe

• na półce

Pełny tekst  Link otwiera się w nowym oknieSzczegóły

Skocz do pozycji: 3.

Tytuł:

Functional Studies of Deafness-Associated Pendrin and Prestin Variants.

Autorzy:

Takahashi S; Department of Otolaryngology-Head and Neck Surgery, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA.
Kojima T; Department of Otolaryngology-Head and Neck Surgery, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA.; Department of Otolaryngology, Head and Neck Surgery, National Hospital Organization Tochigi Medical Center, Tochigi 320-0057, Japan.
Wasano K; Department of Otolaryngology-Head and Neck Surgery, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA.; Department of Otolaryngology, Head and Neck Surgery, Tokai University School of Medicine, Isehara 259-1193, Japan.
Homma K; Department of Otolaryngology-Head and Neck Surgery, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA.; The Hugh Knowles Center for Clinical and Basic Science in Hearing and Its Disorders, Northwestern University, Evanston, IL 60208, USA.

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Źródło:

International journal of molecular sciences [Int J Mol Sci] 2024 Feb 27; Vol. 25 (5). Date of Electronic Publication: 2024 Feb 27.

Typ publikacji:

Journal Article

MeSH Terms:

Mutation, Missense*
Deafness*
Humans ; Sulfate Transporters ; Proteins/metabolism ; Anions/metabolism

Czasopismo naukowe

• na półce

Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły

Skocz do pozycji: 4.

Tytuł:

A novel missense mutation (FGG c.1168G > T) in the gamma chain of fibrinogen causing congenital hypodysfibrinogenemia with bleeding phenotype.

Autorzy:

Xu N; Department of Spine Surgery, the Second Xiangya Hospital, Central South University, Changsha, China.
Zheng L; Department of Nephrology, Mengchao Hepatobiliary Hospital of Fujian Medical University, Fuzhou, China.
Dai Z; Department of Spine Surgery, the Second Xiangya Hospital, Central South University, Changsha, China.
Zhu J; Department of Minimally Invasive Orthopedics, The Hunan University of Medicine General Hospital, Huaihua, China.
Xie P; Department of Spine Surgery, the Second Xiangya Hospital, Central South University, Changsha, China.
Yang S; Department of Spine Surgery, the Second Xiangya Hospital, Central South University, Changsha, China.
Chen F; Department of Spine Surgery, the Second Xiangya Hospital, Central South University, Changsha, China. .

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Źródło:

Hereditas [Hereditas] 2024 Jan 18; Vol. 161 (1), pp. 4. Date of Electronic Publication: 2024 Jan 18.

Typ publikacji:

Case Reports; Journal Article

MeSH Terms:

Afibrinogenemia*
Fibrinogen*/genetics
Mutation, Missense*
Animals ; Cricetinae ; Humans ; CHO Cells ; Cricetulus ; Mutation ; Phenotype

SCR Disease Name:

Hypodysfibrinogenemia, Congenital

Czasopismo naukowe

• na półce

Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły

Skocz do pozycji: 5.

Tytuł:

An in silico toolbox for the prediction of the potential pathogenic effects of missense mutations in the dimeric region of h RPE65.

Autorzy:

Poli G; Department of Pharmacy, University of Pisa, Pisa, Italy.
Demontis GC; Department of Pharmacy, University of Pisa, Pisa, Italy.
Sodi A; Department of Neurosciences, Psychology, Drug Research and Child Health Eye Clinic, University of Florence, AOU Careggi, Florence, Italy.
Saba A; Department of Surgical Pathology, Molecular Medicine and of the Critical Area, University of Pisa, Pisa, Italy.
Rizzo S; Ophthalmology Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.; Catholic University Sacro Cuore, Rome, Italy.; Consiglio Nazionale delle Ricerche, Istituto di Neuroscienze, Pisa, Italy.
Macchia M; Department of Pharmacy, University of Pisa, Pisa, Italy.
Tuccinardi T; Department of Pharmacy, University of Pisa, Pisa, Italy.

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Źródło:

Journal of enzyme inhibition and medicinal chemistry [J Enzyme Inhib Med Chem] 2023 Dec; Vol. 38 (1), pp. 2162047.

Typ publikacji:

Journal Article

MeSH Terms:

Mutation, Missense*
cis-trans-Isomerases*/genetics
Humans ; Computational Biology

Czasopismo naukowe

• na półce

Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły

Skocz do pozycji: 6.

Tytuł:

Mutations in CFAP47, a previously reported MMAF causative gene, also contribute to the respiratory defects in patients with PCD.

Autorzy:

Ge H; McKusick-Zhang Center for Genetic Medicine, State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China.
Zhou W; Department of Pulmonary and Critical Care Medicine, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China.
He M; McKusick-Zhang Center for Genetic Medicine, State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China.
Zheng H; McKusick-Zhang Center for Genetic Medicine, State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China.
Zhao X; McKusick-Zhang Center for Genetic Medicine, State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China.
Zhang T; Department of Pulmonary and Critical Care Medicine, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China.
Zhang Y; Department of Pulmonary and Critical Care Medicine, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China.
Shao C; Department of Pulmonary and Critical Care Medicine, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China.
Cheng C; Department of Pulmonary and Critical Care Medicine, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China.
Liu Y; McKusick-Zhang Center for Genetic Medicine, State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China.
Tian X; Department of Pulmonary and Critical Care Medicine, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China.
Xu KF; Department of Pulmonary and Critical Care Medicine, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China.
Zhang X; McKusick-Zhang Center for Genetic Medicine, State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China.

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Źródło:

Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Jan; Vol. 12 (1), pp. e2278. Date of Electronic Publication: 2023 Sep 18.

Typ publikacji:

Journal Article

MeSH Terms:

Mutation, Missense*
Humans ; Mutation

Czasopismo naukowe

• na półce

Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły

Skocz do pozycji: 7.

Tytuł:

Homozygous missense variant F12 (Gly506Asp) associated with severe factor XII deficiency: a case report.

Autorzy:

Aljabry M; Department of Pathology, College of Medicine, King Saud University, P.O Box2925, Riyadh, 11461, Kingdom of Saudi Arabia. .
Algazlan A; Department of Pathology, College of Medicine, King Saud University, P.O Box2925, Riyadh, 11461, Kingdom of Saudi Arabia.
Alsubaie N; Department of Pathology, College of Medicine, King Saud University, P.O Box2925, Riyadh, 11461, Kingdom of Saudi Arabia.
Dher SB; Department of Pathology, College of Medicine, King Saud University, P.O Box2925, Riyadh, 11461, Kingdom of Saudi Arabia.
Aljabri HS; Premarital Examination Center, Madina Region, Ministry of Health, Al-Madinah Al-Munawwarah, Saudi Arabia.
Alotaibi GS; Division of Hematology/Oncology, Department of Medicine, College of Medicine, King Saud University, Riyadh, Saudi Arabia.

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Źródło:

Journal of medical case reports [J Med Case Rep] 2023 Dec 07; Vol. 17 (1), pp. 504. Date of Electronic Publication: 2023 Dec 07.

Typ publikacji:

Case Reports; Journal Article

MeSH Terms:

Mutation, Missense*
Factor XII Deficiency*/complications
Factor XII Deficiency*/genetics
Pregnancy ; Humans ; Female ; Adult ; Factor XII/genetics ; Partial Thromboplastin Time ; Family

Czasopismo naukowe

• na półce

Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły

Skocz do pozycji: 8.

Tytuł:

A missense mutation of the WNK1 gene affects cold tolerance in Chinese domestic cattle.

Autorzy:

Liu X; Key Laboratory of Animal Genetics, Breeding and Reproduction of Shaanxi Province, College of Animal Science and Technology, Northwest A&F University, Yangling, China.
Chen J; Key Laboratory of Animal Genetics, Breeding and Reproduction of Shaanxi Province, College of Animal Science and Technology, Northwest A&F University, Yangling, China.
Xu X; Key Laboratory of Animal Genetics, Breeding and Reproduction of Shaanxi Province, College of Animal Science and Technology, Northwest A&F University, Yangling, China.
Liu J; Yunnan Academy of Grassland and Animal Science, Kunming, China.
Zhang J; Yunnan Academy of Grassland and Animal Science, Kunming, China.
Cheng H; Shandong Key Lab of Animal Disease Control and Breeding, Institute of Animal Science and Veterinary Medicine, Shandong Academy of Agricultural Sciences, Jinan, China.
Ahmed Z; Faculty of Veterinary and Animal Sciences, University of Poonch Rawalakot Azad Jammu and Kashmir Pakistan, Rawalakot, Pakistan.
Huang B; Yunnan Academy of Grassland and Animal Science, Kunming, China.
Lei C; Key Laboratory of Animal Genetics, Breeding and Reproduction of Shaanxi Province, College of Animal Science and Technology, Northwest A&F University, Yangling, China.

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Źródło:

Animal biotechnology [Anim Biotechnol] 2023 Dec; Vol. 34 (9), pp. 4803-4808. Date of Electronic Publication: 2023 Apr 20.

Typ publikacji:

Journal Article

MeSH Terms:

Protein Serine-Threonine Kinases*/genetics
Protein Serine-Threonine Kinases*/metabolism
Mutation, Missense*
Humans ; Cattle/genetics ; Animals ; WNK Lysine-Deficient Protein Kinase 1/genetics ; Minor Histocompatibility Antigens/genetics ; China

Czasopismo naukowe

• na półce

Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły

Skocz do pozycji: 9.

Tytuł:

Computational analysis of the functional and structural impact of the most deleterious missense mutations in the human Protein C.

Autorzy:

Farajzadeh-Dehkordi M; Cellular and Molecular Research Center, Institute for Prevention of Non-Communicable Diseases, Qazvin University of Medical Sciences, Qazvin, Iran.; Department of Molecular Medicine, Qazvin University of Medical Sciences, Qazvin, Iran.
Mafakher L; Thalassemia & Hemoglobinopathy Research Center, Health Research Institute, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
Harifi A; Department of Electrical and Computer Engineering, University of Hormozgan, Bandar Abbas, Iran.
Samiee-Rad F; Cellular and Molecular Research Center, Institute for Prevention of Non-Communicable Diseases, Qazvin University of Medical Sciences, Qazvin, Iran.; Department of Pathobiology, Faculty of Medical School, Qazvin University of Medical Sciences, Qazvin, Iran.
Rahmani B; Cellular and Molecular Research Center, Institute for Prevention of Non-Communicable Diseases, Qazvin University of Medical Sciences, Qazvin, Iran.; Department of Molecular Medicine, Qazvin University of Medical Sciences, Qazvin, Iran.

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Źródło:

PloS one [PLoS One] 2023 Nov 28; Vol. 18 (11), pp. e0294417. Date of Electronic Publication: 2023 Nov 28 (Print Publication: 2023).

Typ publikacji:

Journal Article

MeSH Terms:

Mutation, Missense*
Protein C*/genetics
Humans ; Computational Biology ; Molecular Dynamics Simulation ; Serine Endopeptidases/genetics

Czasopismo naukowe

• na półce

Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły

Skocz do pozycji: 10.

Tytuł:

A missense mutation in Lama3 causes androgen alopecia.

Autorzy:

Ji ZH; Department of Plastic Surgery, The First Hospital of Jilin University, Changchun, 130062, Jilin, China.; Department of Basic Medicine, Changzhi Medical College, Changzhi, 046000, Shanxi, China.; Department of Laboratory Animals, College of Animal Sciences, Jilin University, Changchun, 130062, Jilin, China.
Ren WZ; Department of Laboratory Animals, College of Animal Sciences, Jilin University, Changchun, 130062, Jilin, China.
He S; Department of Laboratory Animals, College of Animal Sciences, Jilin University, Changchun, 130062, Jilin, China.
Wu HY; Department of Laboratory Animals, College of Animal Sciences, Jilin University, Changchun, 130062, Jilin, China.; Jilin Academy of Agricultural Sciences, Jilin City, 132101, Jilin, China.
Yuan B; Department of Laboratory Animals, College of Animal Sciences, Jilin University, Changchun, 130062, Jilin, China.
Chen J; Department of Laboratory Animals, College of Animal Sciences, Jilin University, Changchun, 130062, Jilin, China. chen_.
Jin HJ; Department of Plastic Surgery, The First Hospital of Jilin University, Changchun, 130062, Jilin, China. .

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Źródło:

Scientific reports [Sci Rep] 2023 Nov 27; Vol. 13 (1), pp. 20818. Date of Electronic Publication: 2023 Nov 27.

Typ publikacji:

Journal Article

MeSH Terms:

Androgens*
Mutation, Missense*
Laminin*/genetics
Animals ; Male ; Mice ; Alopecia/genetics ; Alopecia/pathology ; Extracellular Matrix Proteins/genetics ; Hair/pathology ; Mice, Hairless ; Mutation

Czasopismo naukowe

• na półce

Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły

Skocz do pozycji: 11.

Tytuł:

Impact of N221S missense mutation in human ribonucleotide reductase small subunit b on mitochondrial DNA depletion syndrome.

Autorzy:

Su L; Sino-American Cancer Foundation, Covina, CA, 91722, USA.
Wang X; Sino-American Cancer Foundation, Covina, CA, 91722, USA.
Wang J; Sino-American Cancer Foundation, Covina, CA, 91722, USA.
Luh F; Sino-American Cancer Foundation, Covina, CA, 91722, USA.
Yen Y; Ph.D. Program for Cancer Biology and Drug Discovery, College of Medical Science and Technology, Taipei Medical University, 250 Wu-Hsing Street, Taipei, 110301, Taiwan. .; Center for Cancer Translational Research, Tzu Chi University, Hualien, 970374, Taiwan. .

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Źródło:

Scientific reports [Sci Rep] 2023 Nov 14; Vol. 13 (1), pp. 19899. Date of Electronic Publication: 2023 Nov 14.

Typ publikacji:

Journal Article; Research Support, Non-U.S. Gov't

MeSH Terms:

Mutation, Missense*
Ribonucleotide Reductases*/metabolism
Humans ; Mutation ; Phenylalanine/genetics ; DNA, Mitochondrial/genetics

Czasopismo naukowe

• na półce

Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły

Skocz do pozycji: 12.

Tytuł:

Statistical modeling to quantify the uncertainty of FoldX-predicted protein folding and binding stability.

Autorzy:

Sapozhnikov Y; Program in Bioinformatics and Computational Biology, University of Idaho, Moscow, ID, 83844, USA.
Patel JS; Department of Chemical and Biological Engineering, University of Idaho, Moscow, ID, 83844, USA.; Institute for Modeling Collaboration and Innovation, University of Idaho, Moscow, ID, 83844, USA.
Ytreberg FM; Department of Physics, University of Idaho, Moscow, ID, 83844, USA.; Institute for Modeling Collaboration and Innovation, University of Idaho, Moscow, ID, 83844, USA.
Miller CR; Department of Biological Sciences, University of Idaho, Moscow, ID, 83844, USA. .; Institute for Modeling Collaboration and Innovation, University of Idaho, Moscow, ID, 83844, USA. .

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Źródło:

BMC bioinformatics [BMC Bioinformatics] 2023 Nov 12; Vol. 24 (1), pp. 426. Date of Electronic Publication: 2023 Nov 12.

Typ publikacji:

Journal Article

MeSH Terms:

Protein Folding*
Mutation, Missense*
Uncertainty ; Mutation ; Molecular Dynamics Simulation ; Protein Stability ; Protein Binding

Czasopismo naukowe

• na półce

Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły

Skocz do pozycji: 13.

Tytuł:

Multiplexed assay of variant effect reveals residues of functional importance in the BRCA1 coiled-coil and serine cluster domains.

Autorzy:

Nagy G; Department of Biomedical Informatics, The Ohio State University Comprehensive Cancer Center, Ohio State University, Columbus, Ohio, United States of America.
Diabate M; Department of Biomedical Informatics, The Ohio State University Comprehensive Cancer Center, Ohio State University, Columbus, Ohio, United States of America.
Banerjee T; Department of Biomedical Informatics, The Ohio State University Comprehensive Cancer Center, Ohio State University, Columbus, Ohio, United States of America.
Adamovich AI; Department of Biomedical Informatics, The Ohio State University Comprehensive Cancer Center, Ohio State University, Columbus, Ohio, United States of America.
Smith N; Department of Genome Sciences, University of Washington and Brotman Baty Institute for Precision Medicine, Seattle, Washington, United States of America.
Jeon H; Department of Biomedical Informatics, The Ohio State University Comprehensive Cancer Center, Ohio State University, Columbus, Ohio, United States of America.
Dhar S; Department of Biomedical Informatics, The Ohio State University Comprehensive Cancer Center, Ohio State University, Columbus, Ohio, United States of America.
Liu W; Department of Biomedical Informatics, The Ohio State University Comprehensive Cancer Center, Ohio State University, Columbus, Ohio, United States of America.
Burgess K; Department of Biomedical Informatics, The Ohio State University Comprehensive Cancer Center, Ohio State University, Columbus, Ohio, United States of America.
Chung D; Department of Biomedical Informatics, The Ohio State University Comprehensive Cancer Center, Ohio State University, Columbus, Ohio, United States of America.
Starita LM; Department of Genome Sciences, University of Washington and Brotman Baty Institute for Precision Medicine, Seattle, Washington, United States of America.
Parvin JD; Department of Biomedical Informatics, The Ohio State University Comprehensive Cancer Center, Ohio State University, Columbus, Ohio, United States of America.

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Źródło:

PloS one [PLoS One] 2023 Nov 02; Vol. 18 (11), pp. e0293422. Date of Electronic Publication: 2023 Nov 02 (Print Publication: 2023).

Typ publikacji:

Journal Article; Research Support, N.I.H., Extramural

MeSH Terms:

Serine*/genetics
Mutation, Missense*
Humans ; BRCA1 Protein/genetics ; BRCA1 Protein/metabolism ; Tumor Suppressor Proteins/genetics ; DNA Repair/genetics ; Recombinational DNA Repair ; Genetic Predisposition to Disease

Czasopismo naukowe

• na półce

Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły

Skocz do pozycji: 14.

Tytuł:

A missense mutation (rs209302038) of KRT9 gene associated with heat stress in Chinese cattle.

Autorzy:

Yang X; Life Science College, Luoyang Normal University, Luoyang, China.
Qu K; Academy of Science and Technology, Chuxiong Normal University, Chuxiong, China.
Liu J; Yunnan Academy of Grassland and Animal Science, Kunming, China.
Qi X; Biyang Xianan Cattle Technology and Development Company Ltd, Biyang, China.
Li F; Hunan Tianhua Industrial Corporation Ltd, Lianyuan, China.
Zhang J; Yunnan Academy of Grassland and Animal Science, Kunming, China.
Huang B; Yunnan Academy of Grassland and Animal Science, Kunming, China.
Lei C; Key Laboratory of Animal Genetics, Breeding and Reproduction of Shaanxi Province, College of Animal Science and Technology, Northwest A&F University, Yangling, China.

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Źródło:

Animal biotechnology [Anim Biotechnol] 2023 Nov; Vol. 34 (6), pp. 1876-1882. Date of Electronic Publication: 2022 Mar 24.

Typ publikacji:

Journal Article

MeSH Terms:

Mutation, Missense*
Heat-Shock Response*/genetics
Cattle/genetics ; Animals ; Mutation ; Genotype ; Genetic Markers ; Polymorphism, Single Nucleotide/genetics

Czasopismo naukowe

• na półce

Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły

Skocz do pozycji: 15.

Tytuł:

Network-based prediction approach for cancer-specific driver missense mutations using a graph neural network.

Autorzy:

Hatano N; Graduate School of Medicine, Kyoto University, Kyoto, Japan.
Kamada M; Graduate School of Medicine, Kyoto University, Kyoto, Japan. .
Kojima R; Graduate School of Medicine, Kyoto University, Kyoto, Japan.
Okuno Y; Graduate School of Medicine, Kyoto University, Kyoto, Japan. .; HPC- and AI-driven Drug Development Platform Division, RIKEN Center for Computational Science(R-CCS), Kobe, Japan. .

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Źródło:

BMC bioinformatics [BMC Bioinformatics] 2023 Oct 10; Vol. 24 (1), pp. 383. Date of Electronic Publication: 2023 Oct 10.

Typ publikacji:

Journal Article

MeSH Terms:

Mutation, Missense*
Neoplasms*/genetics
Humans ; Neural Networks, Computer ; Machine Learning

Czasopismo naukowe

• na półce

Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły

Skocz do pozycji: 16.

Tytuł:

Accurate proteome-wide missense variant effect prediction with AlphaMissense.

Autorzy:

Cheng J; Google DeepMind, London, UK.
Novati G; Google DeepMind, London, UK.
Pan J; Google DeepMind, London, UK.
Bycroft C; Google DeepMind, London, UK.
Žemgulytė A; Google DeepMind, London, UK.
Applebaum T; Google DeepMind, London, UK.
Pritzel A; Google DeepMind, London, UK.
Wong LH; Google DeepMind, London, UK.
Zielinski M; Google DeepMind, London, UK.
Sargeant T; Google DeepMind, London, UK.
Schneider RG; Google DeepMind, London, UK.
Senior AW; Google DeepMind, London, UK.
Jumper J; Google DeepMind, London, UK.
Hassabis D; Google DeepMind, London, UK.
Kohli P; Google DeepMind, London, UK.
Avsec Ž; Google DeepMind, London, UK.

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Źródło:

Science (New York, N.Y.) [Science] 2023 Sep 22; Vol. 381 (6664), pp. eadg7492. Date of Electronic Publication: 2023 Sep 22.

Typ publikacji:

Journal Article

MeSH Terms:

Amino Acid Substitution*/genetics
Disease*/genetics
Mutation, Missense*
Proteome*/genetics
Sequence Alignment*/methods
Humans ; Benchmarking ; Conserved Sequence ; Databases, Genetic ; Genome, Human ; Protein Conformation ; Machine Learning

Czasopismo naukowe

• na półce

Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły

Skocz do pozycji: 17.

Tytuł:

Updated benchmarking of variant effect predictors using deep mutational scanning.

Autorzy:

Livesey BJ; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.
Marsh JA; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.

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Źródło:

Molecular systems biology [Mol Syst Biol] 2023 Aug 08; Vol. 19 (8), pp. e11474. Date of Electronic Publication: 2023 Jun 13.

Typ publikacji:

Journal Article; Research Support, Non-U.S. Gov't

MeSH Terms:

Benchmarking*
Mutation, Missense*
Humans ; Mutation ; Proteins/genetics

Czasopismo naukowe

• na półce

Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły

Skocz do pozycji: 18.

Tytuł:

Genetic analysis of periventricular nodular heterotopia 7 caused by a novel NEDD4L missense mutation: Case and literature summary.

Autorzy:

Liu J; Department of Rehabilitation, Hunan Children's Hospital, Changsha, China.
Hu J; Department of Rehabilitation, Hunan Children's Hospital, Changsha, China.
Duan Y; Department of Rehabilitation, Hunan Children's Hospital, Changsha, China.
Qin R; Department of Rehabilitation, Hunan Children's Hospital, Changsha, China.
Guo C; Department of Rehabilitation, Hunan Children's Hospital, Changsha, China.
Zhou H; Department of Rehabilitation, Hunan Children's Hospital, Changsha, China.
Liu H; Department of Rehabilitation, Hunan Children's Hospital, Changsha, China.
Liu C; Department of Rehabilitation, Hunan Children's Hospital, Changsha, China.

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Źródło:

Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2023 Jul; Vol. 11 (7), pp. e2169. Date of Electronic Publication: 2023 Mar 19.

Typ publikacji:

Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Review

MeSH Terms:

Mutation, Missense*
Periventricular Nodular Heterotopia*/genetics
Periventricular Nodular Heterotopia*/pathology
Humans ; Infant ; Male ; Muscle Hypotonia ; Mutation ; Seizures

Czasopismo naukowe

• na półce

Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły

Skocz do pozycji: 19.

Tytuł:

Gene-specific machine learning for pathogenicity prediction of rare BRCA1 and BRCA2 missense variants.

Autorzy:

Kang M; Research Center, Software Division, NGeneBio, Seoul, 08390, Korea.
Kim S; Research Center, Software Division, NGeneBio, Seoul, 08390, Korea.
Lee DB; Department of Computer Science and Engineering, Graduate School, Soongsil University, Seoul, 06978, Korea.
Hong C; Research Center, Software Division, NGeneBio, Seoul, 08390, Korea. .
Hwang KB; Department of Computer Science and Engineering, Graduate School, Soongsil University, Seoul, 06978, Korea. .

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Źródło:

Scientific reports [Sci Rep] 2023 Jun 28; Vol. 13 (1), pp. 10478. Date of Electronic Publication: 2023 Jun 28.

Typ publikacji:

Journal Article; Research Support, Non-U.S. Gov't

MeSH Terms:

Machine Learning*
Mutation, Missense*
Virulence ; Gene Frequency ; Neural Networks, Computer

Czasopismo naukowe

• na półce

Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły

Skocz do pozycji: 20.

Tytuł:

3DVizSNP: a tool for rapidly visualizing missense mutations identified in high throughput experiments in iCn3D.

Autorzy:

Sierk M; Computational Genomics and Bioinformatics Branch, Center for Biomedical Informatics and Information Technology, National Cancer Institute, NIH, Rockville, MD, 20852, USA. .
Ratnayake S; Computational Genomics and Bioinformatics Branch, Center for Biomedical Informatics and Information Technology, National Cancer Institute, NIH, Rockville, MD, 20852, USA.
Wagle MM; Faculty of Pharmacy, University of Grenoble Alpes, Grenoble, France.; Department of Bioinformatics, Manipal School of Life Sciences, Manipal Academy of Higher Education, Manipal, 576104, India.; School of Mathematics and Statistics, Faculty of Science, and Computational Systems Biology Group, Children's Medical Research Institute, University of Sydney, Camperdown, NSW, Australia.
Chen B; Digital Services and Solutions Branch, Center for Biomedical Informatics and Information Technology, National Cancer Institute, NIH, Rockville, MD, 20852, USA.
Park B; Digital Services and Solutions Branch, Center for Biomedical Informatics and Information Technology, National Cancer Institute, NIH, Rockville, MD, 20852, USA.
Wang J; National Center for Biotechnology Information, National Library of Medicine, NIH, Bethesda, MD, 20894, USA.
Youkharibache P; Cancer Data Science Laboratory, Center for Cancer Research, National Cancer Institute, NIH, Bethesda, MD, 20892, USA.
Meerzaman D; Computational Genomics and Bioinformatics Branch, Center for Biomedical Informatics and Information Technology, National Cancer Institute, NIH, Rockville, MD, 20852, USA.

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Źródło:

BMC bioinformatics [BMC Bioinformatics] 2023 Jun 09; Vol. 24 (1), pp. 244. Date of Electronic Publication: 2023 Jun 09.

Typ publikacji:

Journal Article

MeSH Terms:

Mutation, Missense*
Computational Biology*/methods
Genomics/methods ; Software ; Mutation

Czasopismo naukowe

• na półce

Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły

Skocz do pozycji: 21.

Tytuł:

A homozygous missense mutation in the fibroblast growth factor 5 gene is associated with the long-hair trait in Angora rabbits.

Autorzy:

Fatima N; Department of Laboratory Animal Science, School of Basic Medical Sciences, Xi'an Jiaotong University, Xi'an, 710061, Shaanxi, China.; Laboratory Animal Center, Xi'an Jiaotong University, Xi'an, 710061, Shaanxi, China.
Jia L; Department of Laboratory Animal Science, School of Basic Medical Sciences, Xi'an Jiaotong University, Xi'an, 710061, Shaanxi, China.; Laboratory Animal Center, Xi'an Jiaotong University, Xi'an, 710061, Shaanxi, China.
Liu B; Department of Laboratory Animal Science, School of Basic Medical Sciences, Xi'an Jiaotong University, Xi'an, 710061, Shaanxi, China.; Laboratory Animal Center, Xi'an Jiaotong University, Xi'an, 710061, Shaanxi, China.
Li L; Department of Laboratory Animal Science, School of Basic Medical Sciences, Xi'an Jiaotong University, Xi'an, 710061, Shaanxi, China.; Laboratory Animal Center, Xi'an Jiaotong University, Xi'an, 710061, Shaanxi, China.
Bai L; Department of Laboratory Animal Science, School of Basic Medical Sciences, Xi'an Jiaotong University, Xi'an, 710061, Shaanxi, China.; Laboratory Animal Center, Xi'an Jiaotong University, Xi'an, 710061, Shaanxi, China.
Wang W; Department of Laboratory Animal Science, School of Basic Medical Sciences, Xi'an Jiaotong University, Xi'an, 710061, Shaanxi, China.; Laboratory Animal Center, Xi'an Jiaotong University, Xi'an, 710061, Shaanxi, China.
Zhao S; Department of Laboratory Animal Science, School of Basic Medical Sciences, Xi'an Jiaotong University, Xi'an, 710061, Shaanxi, China.; Laboratory Animal Center, Xi'an Jiaotong University, Xi'an, 710061, Shaanxi, China.
Wang R; Department of Laboratory Animal Science, School of Basic Medical Sciences, Xi'an Jiaotong University, Xi'an, 710061, Shaanxi, China. .; Laboratory Animal Center, Xi'an Jiaotong University, Xi'an, 710061, Shaanxi, China. .
Liu E; Department of Laboratory Animal Science, School of Basic Medical Sciences, Xi'an Jiaotong University, Xi'an, 710061, Shaanxi, China. .; Laboratory Animal Center, Xi'an Jiaotong University, Xi'an, 710061, Shaanxi, China. .

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Źródło:

BMC genomics [BMC Genomics] 2023 Jun 02; Vol. 24 (1), pp. 298. Date of Electronic Publication: 2023 Jun 02.

Typ publikacji:

Journal Article

MeSH Terms:

Mutation, Missense*
Fibroblast Growth Factor 5*/genetics
Rabbits ; Animals ; Hedgehog Proteins/genetics ; Hair ; Alleles

Czasopismo naukowe

• na półce

Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły

Skocz do pozycji: 22.

Tytuł:

The distribution of a missense mutation in SDK1 gene across native Chinese breeds.

Autorzy:

Wan P; Guyuan Branch of Ningxia Academy of Agriculture and Forestry Sciences, Guyuan, People's Republic of China.
Yang X; Guyuan Branch of Ningxia Academy of Agriculture and Forestry Sciences, Guyuan, People's Republic of China.
Li Y; Guyuan Branch of Ningxia Academy of Agriculture and Forestry Sciences, Guyuan, People's Republic of China.
Huang B; Yunnan Academy of Grassland and Animal Science, Kunming, China.
Cai C; Guyuan Branch of Ningxia Academy of Agriculture and Forestry Sciences, Guyuan, People's Republic of China.

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Źródło:

Animal biotechnology [Anim Biotechnol] 2023 Jun; Vol. 34 (3), pp. 734-737. Date of Electronic Publication: 2021 Sep 22.

Typ publikacji:

Journal Article

MeSH Terms:

Mutation, Missense*
Cattle Diseases*/genetics
Cattle/genetics ; Animals ; Disease Resistance/genetics ; Gene Frequency ; Base Sequence ; Polymerase Chain Reaction ; China ; Polymorphism, Single Nucleotide

Czasopismo naukowe

• na półce

Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły

Skocz do pozycji: 23.

Tytuł:

Detection of autism spectrum disorder-related pathogenic trio variants by a novel structure-based approach.

Autorzy:

Rao S; Department of Biological Sciences, Neurobiology Section, Dornsife College of Letters, Arts and Sciences, University of Southern California, Los Angeles, CA, 90089, USA. .; Neuroscience Graduate Program, University of Southern California, Los Angeles, CA, 90089, USA. .
Sadybekov A; Quantitative and Computational Biology, University of Southern California, Los Angeles, CA, 90089, USA.; Department of Chemistry, University of Southern California, Los Angeles, CA, 90089, USA.
DeWitt DC; Department of Pathology, Genentech, Inc., South San Francisco, CA, 94080, USA.
Lipka J; Department of Neuroscience, Genentech, Inc., South San Francisco, CA, 94080, USA.
Katritch V; Quantitative and Computational Biology, University of Southern California, Los Angeles, CA, 90089, USA. .; Department of Chemistry, University of Southern California, Los Angeles, CA, 90089, USA. .
Herring BE; Department of Biological Sciences, Neurobiology Section, Dornsife College of Letters, Arts and Sciences, University of Southern California, Los Angeles, CA, 90089, USA. .; Neuroscience Graduate Program, University of Southern California, Los Angeles, CA, 90089, USA. .

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Źródło:

Molecular autism [Mol Autism] 2024 Apr 03; Vol. 15 (1), pp. 12. Date of Electronic Publication: 2024 Apr 03.

Typ publikacji:

Journal Article

MeSH Terms:

Autism Spectrum Disorder*/genetics
Autism Spectrum Disorder*/metabolism
Intellectual Disability*/genetics
Intellectual Disability*/metabolism
Humans ; HEK293 Cells ; Mutation ; Mutation, Missense ; Neurons/metabolism

Czasopismo naukowe

• na półce

Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły

Skocz do pozycji: 24.

Tytuł:

Clinical and genetic interpretation of uncertain DMD missense variants: evidence from mRNA and protein studies.

Autorzy:

Xie Z; Department of Neurology, Peking University First Hospital, No. 8 Xishiku Street, Xicheng District, Beijing, 100034, China.
Liu C; Department of Neurology, Peking University First Hospital, No. 8 Xishiku Street, Xicheng District, Beijing, 100034, China.
Yu H; Department of Clinical Laboratory, Peking University First Hospital, Beijing, 100034, China.
Xie Z; Department of Epidemiology and Biostatistics, West China School of Public Health and West China Fourth Hospital, Sichuan University, Chengdu, 610041, China.
Sun C; Department of Neurology, Peking University People's Hospital, Beijing, 100044, China.
Zhu Y; Department of Radiology, Peking University First Hospital, Beijing, 100034, China.
Hu X; Department of Radiology, Peking University First Hospital, Beijing, 100034, China.
Bai L; Department of Neurology, Peking University First Hospital, No. 8 Xishiku Street, Xicheng District, Beijing, 100034, China.
Wei L; Department of Neurology, Peking University First Hospital, No. 8 Xishiku Street, Xicheng District, Beijing, 100034, China.
Sun P; Department of Neurology, Peking University First Hospital, No. 8 Xishiku Street, Xicheng District, Beijing, 100034, China.
Lu Y; Department of Neurology, Peking University First Hospital, No. 8 Xishiku Street, Xicheng District, Beijing, 100034, China.
Lu Y; Department of Neurology, Peking University First Hospital, No. 8 Xishiku Street, Xicheng District, Beijing, 100034, China.
Zhao Y; Department of Neurology, Peking University First Hospital, No. 8 Xishiku Street, Xicheng District, Beijing, 100034, China.
Zhang W; Department of Neurology, Peking University First Hospital, No. 8 Xishiku Street, Xicheng District, Beijing, 100034, China.
Wang Z; Department of Neurology, Peking University First Hospital, No. 8 Xishiku Street, Xicheng District, Beijing, 100034, China.
Meng L; Department of Neurology, Peking University First Hospital, No. 8 Xishiku Street, Xicheng District, Beijing, 100034, China. .
Yuan Y; Department of Neurology, Peking University First Hospital, No. 8 Xishiku Street, Xicheng District, Beijing, 100034, China. .

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Źródło:

Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Mar 14; Vol. 19 (1), pp. 123. Date of Electronic Publication: 2024 Mar 14.

Typ publikacji:

Journal Article

MeSH Terms:

Dystrophin*/genetics
Muscular Dystrophy, Duchenne*/genetics
Humans ; Mutation, Missense/genetics ; RNA, Messenger/genetics ; Sarcoglycans/genetics

Czasopismo naukowe

• na półce

Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły

Skocz do pozycji: 25.

Tytuł:

Further delineation of Wiedemann-Rautenstrauch syndrome linked with POLR3A.

Autorzy:

Khan A; Faculty of Science, Department of Biological Sciences (Zoology), University of Lakki Marwat, Lakki Marwat, Pakistan.; Institute for Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Alexander von Humboldt Fellowship Foundation, Berlin, Germany.
Al Shamsi B; National Genetics Center, The Royal Hospital, Ministry of Health, Muscat, Sultanate of Oman.; Child Health Department, The Royal Hospital, Ministry of Health, Muscat, Sultanate of Oman.
Al Shehhi M; National Genetics Center, The Royal Hospital, Ministry of Health, Muscat, Sultanate of Oman.
Kashgari AA; Genetics Division, Department of Pediatrics, King Abdullah International Medical Research Centre (KAIMRC), King Saud bin Abdulaziz University for Health Science, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia.; King Abdullah Specialized Children's Hospital (KASCH), Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.
Al Balushi A; National Genetics Center, The Royal Hospital, Ministry of Health, Muscat, Sultanate of Oman.; Child Health Department, The Royal Hospital, Ministry of Health, Muscat, Sultanate of Oman.
Al Dihan FA; College of Medicine, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.
Alghamdi MA; College of Medicine, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.
Manal A; Genetics Division, Department of Pediatrics, King Abdullah International Medical Research Centre (KAIMRC), King Saud bin Abdulaziz University for Health Science, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia.; King Abdullah Specialized Children's Hospital (KASCH), Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.
González-Álvarez AC; Bioscience Program, Bioengineering Program, Biological and Environmental Science and Engineering Division, King Abdullah University of Science and Technology (KAUST), Thuwal, Kingdom of Saudi Arabia.; Computational Biology Research Center, King Abdullah University of Science and Technology, Thuwal, Kingdom of Saudi Arabia.
Arold ST; Bioscience Program, Bioengineering Program, Biological and Environmental Science and Engineering Division, King Abdullah University of Science and Technology (KAUST), Thuwal, Kingdom of Saudi Arabia.; Computational Biology Research Center, King Abdullah University of Science and Technology, Thuwal, Kingdom of Saudi Arabia.; Centre de Biologie Structurale (CBS), INSERM, CNRS, Université de Montpellier, Montpellier, France.
Eyaid W; Genetics Division, Department of Pediatrics, King Abdullah International Medical Research Centre (KAIMRC), King Saud bin Abdulaziz University for Health Science, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia.; King Abdullah Specialized Children's Hospital (KASCH), Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.

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Źródło:

Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Mar; Vol. 12 (3), pp. e2274. Date of Electronic Publication: 2024 Feb 13.

Typ publikacji:

Journal Article

MeSH Terms:

Progeria*/genetics
Pregnancy ; Female ; Humans ; Phenotype ; Fetal Growth Retardation/genetics ; Mutation, Missense ; Syndrome ; RNA Polymerase III/genetics

SCR Disease Name:

Progeroid syndrome, neonatal

Czasopismo naukowe

• na półce

Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły

Skocz do pozycji: 26.

Tytuł:

Sex and statin-related genetic associations at the PCSK9 gene locus: results of genome-wide association meta-analysis.

Autorzy:

Pott, Janne (AUTHOR)
Kheirkhah, Azin (AUTHOR)
Gadin, Jesper R. (AUTHOR)
Kleber, Marcus E. (AUTHOR)
Delgado, Graciela E. (AUTHOR)
Kirsten, Holger (AUTHOR)
Forer, Lukas (AUTHOR)
Hauck, Stefanie M. (AUTHOR)
Burkhardt, Ralph (AUTHOR)
Scharnagl, Hubert (AUTHOR)
Loeffler, Markus (AUTHOR)
März, Winfried (AUTHOR)
Thiery, Joachim (AUTHOR)
Gieger, Christian (AUTHOR)
Peters, Annette (AUTHOR)
Silveira, Angela (AUTHOR)
Hooft, Ferdinand van't (AUTHOR)
Kronenberg, Florian (AUTHOR)
Scholz, Markus (AUTHOR)

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Źródło:

Biology of Sex Differences. 3/26/2024, Vol. 15 Issue 1, p1-18. 18p.

Czasopismo naukowe

• na półce

Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły

Skocz do pozycji: 27.

Tytuł:

OR11H1 Missense Variant Confers the Susceptibility to Vogt‒Koyanagi‒Harada Disease by Mediating Gadd45g Expression.

Autorzy:

Li, Xingran (AUTHOR)
Wang, Guoqing (AUTHOR)
Wang, Xiaotang (AUTHOR)
Li, Wanqian (AUTHOR)
Li, Na (AUTHOR)
Liu, Xianyang (AUTHOR)
Fan, Wei (AUTHOR)
He, Siyuan (AUTHOR)
Han, Yue (AUTHOR)
Su, Guannan (AUTHOR)
Cao, Qingfeng (AUTHOR)
Yang, Peizeng (AUTHOR)
Hou, Shengping (AUTHOR)

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Źródło:

Advanced Science. 3/20/2024, Vol. 11 Issue 11, p1-9. 9p.

Czasopismo naukowe

• na półce

Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły

Skocz do pozycji: 28.

Tytuł:

Geographic distribution of a missense mutation in the KRT38 gene in Chinese indigenous cattle breeds.

Autorzy:

Jialei Chen
Xin Liu
Jianyong Liu
Jicai Zhang
Bizhi Huang
Chuzhao Lei

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Źródło:

Animal Production Science. 2024, Vol. 64 Issue 5, p1-8. 8p.

Czasopismo naukowe

• na półce

Pełny tekst  Link otwiera się w nowym oknieSzczegóły

Skocz do pozycji: 29.

Tytuł:

Clinical Utility of Genetic Testing with Geographical Locations in ADPKD: Describing New Variants.

Autorzy:

García Rabaneda, Carmen (AUTHOR)
Bellido Díaz, María Luz (AUTHOR)
Morales García, Ana Isabel (AUTHOR)
Poyatos Andújar, Antonio Miguel (AUTHOR)
Bravo Soto, Juan (AUTHOR)
Dayaldasani Khialani, Anita (AUTHOR)
Martínez Atienza, Margarita (AUTHOR)
Esteban de la Rosa, Rafael Jose (AUTHOR)

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Źródło:

Journal of Clinical Medicine. Mar2024, Vol. 13 Issue 6, p1751. 13p.

Czasopismo naukowe

• na półce

Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły

Skocz do pozycji: 30.

Tytuł:

Late Onset of Primary Hemophagocytic Lymphohistiocytosis (HLH) with a Novel Constellation of Compound Heterozygosity Involving Two Missense Variants in the PRF1 Gene.

Autorzy:

Stadermann, Alina (AUTHOR)
Haar, Markus (AUTHOR)
Riecke, Armin (AUTHOR)
Mayer, Thomas (AUTHOR)
Neumann, Christian (AUTHOR)
Bauer, Arthur (AUTHOR)
Schulz, Ansgar (AUTHOR)
Nagarathinam, Kumar (AUTHOR)
Gebauer, Niklas (AUTHOR)
Böhm, Svea (AUTHOR)
Groß, Miriam (AUTHOR)
Grunert, Michael (AUTHOR)
Müller, Matthias (AUTHOR)
Witte, Hanno (AUTHOR)

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Źródło:

International Journal of Molecular Sciences. Mar2024, Vol. 25 Issue 5, p2762. 10p.

Czasopismo naukowe

• na półce

Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły

Skocz do pozycji: 31.

Tytuł:

Whole-Genome Resequencing of Ujimqin Sheep Identifies Genes Associated with Vertebral Number.

Autorzy:

Zhou, Chuanqing (AUTHOR)
Zhang, Yue (AUTHOR)
Ma, Teng (AUTHOR)
Wu, Dabala (AUTHOR)
Yang, Yanyan (AUTHOR)
Wang, Daqing (AUTHOR)
Li, Xiunan (AUTHOR)
Guo, Shuchun (AUTHOR)
Yang, Siqi (AUTHOR)
Song, Yongli (AUTHOR)
Zhang, Yong (AUTHOR)
Zuo, Yongchun (AUTHOR)
Cao, Guifang (AUTHOR)

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Źródło:

Animals (2076-2615). Mar2024, Vol. 14 Issue 5, p677. 15p.

Czasopismo naukowe

• na półce

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Skocz do pozycji: 32.

Tytuł:

Cancer-Related Mutations in the Sam Domains of EphA2 Receptor and Ship2 Lipid Phosphatase: A Computational Study.

Autorzy:

Vincenzi, Marian (AUTHOR)
Mercurio, Flavia Anna (AUTHOR)
Autiero, Ida (AUTHOR)
Leone, Marilisa (AUTHOR)

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Źródło:

Molecules. Mar2024, Vol. 29 Issue 5, p1024. 26p.

Czasopismo naukowe

• na półce

Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły

Skocz do pozycji: 33.

Tytuł:

Predicting valuable missense variants with AlphaMissense in a multiple pulmonary infection patient.

Autorzy:

Wang, Tianyuan (AUTHOR)
Ma, Jindi (AUTHOR)
Shu, Yuan (AUTHOR)
Hong, Bao (AUTHOR)
Wang, Zhouhan (AUTHOR)
Lu, Yingfeng (AUTHOR)
Yu, Xiaopeng (AUTHOR)
Huang, Xi (AUTHOR)
Zhang, Yimin (AUTHOR)

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Źródło:

Clinical Case Reports. Feb2024, Vol. 12 Issue 2, p1-8. 8p.

Czasopismo naukowe

• na półce

Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły

Skocz do pozycji: 34.

Tytuł:

A Missense Variant in TP53 Could Be a Genetic Biomarker Associated with Bone Tissue Alterations.

Autorzy:

Usategui-Martín, Ricardo (AUTHOR)
Galindo-Cabello, Nadia (AUTHOR)
Pastor-Idoate, Salvador (AUTHOR)
Fernández-Gómez, José María (AUTHOR)
del Real, Álvaro (AUTHOR)
Ferreño, Diego (AUTHOR)
Lapresa, Rebeca (AUTHOR)
Martín-Rodriguez, Francisco (AUTHOR)
Riancho, José A. (AUTHOR)
Almeida, Ángeles (AUTHOR)
Pérez-Castrillón, José Luis (AUTHOR)

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Źródło:

International Journal of Molecular Sciences. Feb2024, Vol. 25 Issue 3, p1395. 10p.

Czasopismo naukowe

• na półce

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Skocz do pozycji: 35.

Tytuł:

Missense Variants in COL4A1/2 Are Associated with Cerebral Aneurysms: A Case Report and Literature Review.

Autorzy:

Uemura, Masahiro (AUTHOR)
Tanaka, Natsuki (AUTHOR)
Ando, Shoichiro (AUTHOR)
Yanagihara, Takehiko (AUTHOR)
Onodera, Osamu (AUTHOR)

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Źródło:

Neurology International. Feb2024, Vol. 16 Issue 1, p226-238. 13p.

Czasopismo naukowe

• na półce

Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły

Skocz do pozycji: 36.

Tytuł:

Mutations in the F protein of the live-attenuated respiratory syncytial virus vaccine candidate ΔNS2/Δ1313/I1314L increase the stability of infectivity and content of prefusion F protein.

Autorzy:

Alamares-Sapuay J; Sanofi, Cambridge, Massachusetts, United States of America.
Kishko M; Sanofi, Cambridge, Massachusetts, United States of America.
Lai C; Sanofi, Cambridge, Massachusetts, United States of America.
Parrington M; Sanofi, Cambridge, Massachusetts, United States of America.
Delagrave S; Sanofi, Cambridge, Massachusetts, United States of America.
Herbert R; Experimental Primate Virology Section, Comparative Medicine Branch, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Poolesville, Maryland, United States of America.
Castens A; Experimental Primate Virology Section, Comparative Medicine Branch, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Poolesville, Maryland, United States of America.
Swerczek J; Experimental Primate Virology Section, Comparative Medicine Branch, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Poolesville, Maryland, United States of America.
Luongo C; RNA Viruses Section, Laboratory of Infectious Diseases, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, United States of America.
Yang L; RNA Viruses Section, Laboratory of Infectious Diseases, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, United States of America.
Collins PL; RNA Viruses Section, Laboratory of Infectious Diseases, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, United States of America.
Buchholz UJ; RNA Viruses Section, Laboratory of Infectious Diseases, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, United States of America.
Zhang L; Sanofi, Cambridge, Massachusetts, United States of America.

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Źródło:

PloS one [PLoS One] 2024 Apr 09; Vol. 19 (4), pp. e0301773. Date of Electronic Publication: 2024 Apr 09 (Print Publication: 2024).

Typ publikacji:

Journal Article

MeSH Terms:

Respiratory Syncytial Virus Vaccines*/genetics
Respiratory Syncytial Virus, Human*/genetics
Respiratory Syncytial Virus Infections*
Animals ; Humans ; Chlorocebus aethiops ; Child ; Vero Cells ; Antibodies, Viral ; Viral Fusion Proteins/genetics ; Antibodies, Neutralizing ; Mutation, Missense

Czasopismo naukowe

• na półce

Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły

Skocz do pozycji: 37.

Tytuł:

A novel homozygous variant (c.5876T > C: p. Leu1959Pro) in DYSF segregates with limb-girdle muscular dystrophy: a case report.

Autorzy:

Hesami H; Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran.
Ghasemi S; Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran.
Houshmand G; Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran.
Nilipour Y; Pediatric Pathology Research Center, Research Institute for Children's Health, Shahid Beheshti University of Medical Sciences, Tehran, Iran.; Neuromuscular Research Center, Tehran University of Medical Sciences, Tehran, Iran.
Hesami M; Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran.
Biglari A; School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
Nafissi S; Neuromuscular Research Center, Tehran University of Medical Sciences, Tehran, Iran.
Maleki M; Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran.
Kalayinia S; Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran. .

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Źródło:

BMC musculoskeletal disorders [BMC Musculoskelet Disord] 2024 Mar 27; Vol. 25 (1), pp. 241. Date of Electronic Publication: 2024 Mar 27.

Typ publikacji:

Case Reports; Journal Article

MeSH Terms:

Muscular Dystrophies, Limb-Girdle*/genetics
Adult ; Humans ; Young Adult ; Dysferlin/genetics ; Mutation ; Mutation, Missense ; Phenotype

Czasopismo naukowe

• na półce

Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły

Skocz do pozycji: 38.

Tytuł:

MLe-KCNQ2: An Artificial Intelligence Model for the Prognosis of Missense KCNQ2 Gene Variants.

Autorzy:

Saez-Matia A; Instituto Biofisika, CSIC-UPV/EHU, 48940 Leioa, Spain.
Ibarluzea MG; Physics Department, Universidad del País Vasco, UPV/EHU, 48940 Leioa, Spain.; Donostia International Physics Center, 20018 Donostia, Spain.
M-Alicante S; Instituto Biofisika, CSIC-UPV/EHU, 48940 Leioa, Spain.; Physics Department, Universidad del País Vasco, UPV/EHU, 48940 Leioa, Spain.
Muguruza-Montero A; Instituto Biofisika, CSIC-UPV/EHU, 48940 Leioa, Spain.
Nuñez E; Instituto Biofisika, CSIC-UPV/EHU, 48940 Leioa, Spain.; Physics Department, Universidad del País Vasco, UPV/EHU, 48940 Leioa, Spain.
Ramis R; Physics Department, Universidad del País Vasco, UPV/EHU, 48940 Leioa, Spain.; Donostia International Physics Center, 20018 Donostia, Spain.
Ballesteros OR; Physics Department, Universidad del País Vasco, UPV/EHU, 48940 Leioa, Spain.; Centro de Física de Materiales CFM, CSIC-UPV/EHU, 20018 Donostia, Spain.
Lasa-Goicuria D; Donostia International Physics Center, 20018 Donostia, Spain.
Fons C; Pediatric Neurology Department, Sant Joan de Déu Hospital, Institut de Recerca Sant Joan de Déu, Barcelona University, 08950 Barcelona, Spain.
Gallego M; Departamento de Fisiología, Universidad del País Vasco, UPV/EHU, 01006 Vitoria-Gasteiz, Spain.
Casis O; Departamento de Fisiología, Universidad del País Vasco, UPV/EHU, 01006 Vitoria-Gasteiz, Spain.
Leonardo A; Physics Department, Universidad del País Vasco, UPV/EHU, 48940 Leioa, Spain.; Donostia International Physics Center, 20018 Donostia, Spain.
Bergara A; Physics Department, Universidad del País Vasco, UPV/EHU, 48940 Leioa, Spain.; Donostia International Physics Center, 20018 Donostia, Spain.; Centro de Física de Materiales CFM, CSIC-UPV/EHU, 20018 Donostia, Spain.
Villarroel A; Instituto Biofisika, CSIC-UPV/EHU, 48940 Leioa, Spain.

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Źródło:

International journal of molecular sciences [Int J Mol Sci] 2024 Mar 02; Vol. 25 (5). Date of Electronic Publication: 2024 Mar 02.

Typ publikacji:

Journal Article

MeSH Terms:

Epilepsy, Benign Neonatal*/genetics
Epilepsy, Generalized*
Infant, Newborn ; Humans ; Artificial Intelligence ; Mutation, Missense ; Mutation ; KCNQ2 Potassium Channel/genetics

Czasopismo naukowe

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Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły

Skocz do pozycji: 39.

Tytuł:

PRPH2 -Related Retinal Dystrophies: Mutational Spectrum in 103 Families from a Spanish Cohort.

Autorzy:

Fernández-Caballero L; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.
Martín-Merida I; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.
Blanco-Kelly F; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.
Avila-Fernandez A; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.
Carreño E; Department of Ophthalmology, Fundación Jiménez Díaz University Hospital, 28040 Madrid, Spain.
Fernandez-San Jose P; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.; Department of Genetics, Ramón y Cajal University Hospital, 28034 Madrid, Spain.; Instituto Ramón y Cajal de Investigación Sanitaria (IRYCIS), 28034 Madrid, Spain.
Irigoyen C; Ophthalmology Service, Donostia University Hospital, 20014 Donostia-San Sebastián, Spain.
Jimenez-Rolando B; Department of Ophthalmology, Fundación Jiménez Díaz University Hospital, 28040 Madrid, Spain.
Lopez-Grondona F; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.
Mahillo I; Department of Statistics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.
Martin-Gutierrez MP; Department of Ophthalmology, Fundación Jiménez Díaz University Hospital, 28040 Madrid, Spain.
Minguez P; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.; Bioinformatics Unit, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.
Perea-Romero I; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.
Del Pozo-Valero M; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.
Riveiro-Alvarez R; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.
Rodilla C; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.
Rodriguez-Peña L; Sección de Genética Medica, Servicio de Pediatría, HCU Virgen de la Arrixaca, 30120 Murcia, Spain.
Sánchez-Barbero AI; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.
Swafiri ST; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.
Trujillo-Tiebas MJ; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.
Zurita O; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.
García-Sandoval B; Department of Ophthalmology, Fundación Jiménez Díaz University Hospital, 28040 Madrid, Spain.
Corton M; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.
Ayuso C; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.

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Źródło:

International journal of molecular sciences [Int J Mol Sci] 2024 Mar 02; Vol. 25 (5). Date of Electronic Publication: 2024 Mar 02.

Typ publikacji:

Journal Article

MeSH Terms:

Retinal Dystrophies*/genetics
Retinitis Pigmentosa*/genetics
Humans ; DNA Mutational Analysis ; Mutation ; Mutation, Missense ; Phenotype

Czasopismo naukowe

• na półce

Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły

Skocz do pozycji: 40.

Tytuł:

Hemodynamic and Clinical Profiles of Pulmonary Arterial Hypertension Patients with GDF2 and BMPR2 Variants.

Autorzy:

Wang MT; Institute of Emergency and Critical Care Medicine, National Yang Ming Chiao Tung University, Taipei 112, Taiwan.; Department of Critical Care Medicine, Kaohsiung Veterans General Hospital, Kaohsiung 813, Taiwan.
Weng KP; Congenital Structural Heart Disease Center, Department of Pediatrics, Kaohsiung Veterans General Hospital, Kaohsiung 813, Taiwan.
Chang SK; Excelsior Biopharma Inc., Taipei 115, Taiwan.
Huang WC; Department of Critical Care Medicine, Kaohsiung Veterans General Hospital, Kaohsiung 813, Taiwan.; Department of Medicine, School of Medicine, National Yang Ming Chiao Tung University, Taipei 112, Taiwan.; Department of Physical Therapy, Fooyin University, Kaohsiung 813, Taiwan.
Chen LW; Institute of Emergency and Critical Care Medicine, National Yang Ming Chiao Tung University, Taipei 112, Taiwan.; Department of Surgery, Kaohsiung Veterans General Hospital, Kaohsiung 813, Taiwan.; Department of Biological Sciences, National Sun Yat-Sen University, Kaohsiung 813, Taiwan.

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Źródło:

International journal of molecular sciences [Int J Mol Sci] 2024 Feb 27; Vol. 25 (5). Date of Electronic Publication: 2024 Feb 27.

Typ publikacji:

Journal Article

MeSH Terms:

Pulmonary Arterial Hypertension*/genetics
Humans ; Familial Primary Pulmonary Hypertension/genetics ; Mutation, Missense ; Hemodynamics ; Sequence Deletion ; Bone Morphogenetic Protein Receptors, Type II/genetics ; Mutation ; Adenosine Triphosphatases/genetics ; Membrane Transport Proteins/genetics ; Growth Differentiation Factor 2/genetics

Czasopismo naukowe

• na półce

Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły

Skocz do pozycji: 41.

Tytuł:

The spectrum of neurological presentation in individuals affected by TBL1XR1 gene defects.

Autorzy:

Nagy A; Department of Neurology, Massachusetts General Hospital, 55 Fruit St, Wang Ambulatory Care Center 708, Boston, MA, 02114, USA.
Molay F; Division of Clinical Research, Massachusetts General Hospital, 55 Fruit St, Boston, MA, 02114, USA.
Hargadon S; Fly Little Bird Foundation, PO Box 698, Excelsior, MN, 55331, USA.
Brito Pires C; Department of Neurology, Massachusetts General Hospital, 55 Fruit St, Wang Ambulatory Care Center 708, Boston, MA, 02114, USA.
Grant N; Department of Neurology, Massachusetts General Hospital, 55 Fruit St, Wang Ambulatory Care Center 708, Boston, MA, 02114, USA.
De La Rosa Abreu L; Department of Neurology, Massachusetts General Hospital, 55 Fruit St, Wang Ambulatory Care Center 708, Boston, MA, 02114, USA.
Chen JY; Department of Neurology, Massachusetts General Hospital, 55 Fruit St, Wang Ambulatory Care Center 708, Boston, MA, 02114, USA.
D'Souza P; National Human Genome Research Institute, National Institutes of Health, 10 Center Drive, Bethesda, MD, 20892, USA.
Macnamara E; National Human Genome Research Institute, National Institutes of Health, 10 Center Drive, Bethesda, MD, 20892, USA.
Tifft C; National Human Genome Research Institute, National Institutes of Health, 10 Center Drive, Bethesda, MD, 20892, USA.
Becker C; Department of Neurology, Massachusetts General Hospital, 55 Fruit St, Wang Ambulatory Care Center 708, Boston, MA, 02114, USA.
Melo De Gusmao C; Division of Movement Disorders, Department of Neurology, Brigham and Women's Hospital and Harvard Medical School, Hale Building for Transformative Medicine Room 10016L, 60 Fenwood Road, Boston, 02115, USA.
Khurana V; Division of Movement Disorders, Department of Neurology, Brigham and Women's Hospital and Harvard Medical School, Hale Building for Transformative Medicine Room 10016L, 60 Fenwood Road, Boston, 02115, USA.
Neumeyer AM; Department of Neurology, Massachusetts General Hospital, 55 Fruit St, Wang Ambulatory Care Center 708, Boston, MA, 02114, USA.; Lurie Center for Autism, Massachusetts General Hospital, 1 Maguire Road, Lexington, MA, 02124, USA.
Eichler FS; Department of Neurology, Massachusetts General Hospital, 55 Fruit St, Wang Ambulatory Care Center 708, Boston, MA, 02114, USA. .

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Źródło:

Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Feb 20; Vol. 19 (1), pp. 79. Date of Electronic Publication: 2024 Feb 20.

Typ publikacji:

Journal Article

MeSH Terms:

Neurodevelopmental Disorders*
Humans ; Cross-Sectional Studies ; Mutation, Missense/genetics ; Receptors, Cytoplasmic and Nuclear/genetics ; Repressor Proteins/genetics

Czasopismo naukowe

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Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły

Skocz do pozycji: 42.

Tytuł:

Novel Genetic and Phenotypic Expansion in Ameliorated PUF60 -Related Disorders.

Autorzy:

Baum E; Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, 50937 Cologne, Germany.; Max-Planck-Institute for Biology of Ageing, 50931 Cologne, Germany.; Cologne Excellence Cluster on Cellular Stress Responses in Aging Associated Diseases (CECAD), 50931 Cologne, Germany.
Huang W; Max-Planck-Institute for Biology of Ageing, 50931 Cologne, Germany.; Cologne Excellence Cluster on Cellular Stress Responses in Aging Associated Diseases (CECAD), 50931 Cologne, Germany.
Vincent-Delorme C; Clinical Genetics Unit Guy Fontaine, University Hospital of Lille, F-59037 Lille, France.
Brunelle P; Institut de Génétique Médicale, University of Lille, ULR7364 RADEME, CHU Lille, F-59000 Lille, France.
Antebi A; Max-Planck-Institute for Biology of Ageing, 50931 Cologne, Germany.; Cologne Excellence Cluster on Cellular Stress Responses in Aging Associated Diseases (CECAD), 50931 Cologne, Germany.
Dafsari HS; Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, 50937 Cologne, Germany.; Max-Planck-Institute for Biology of Ageing, 50931 Cologne, Germany.; Cologne Excellence Cluster on Cellular Stress Responses in Aging Associated Diseases (CECAD), 50931 Cologne, Germany.; Department of Pediatric Neurology, Evelina's Children Hospital, Guy's & St. Thomas' Hospital NHS Foundation Trust, London SE1 7EH, UK.; Randall Division of Cell and Molecular Biophysics, Muscle Signaling Section, King's College London, London WC2R 2LS, UK.; Center for Rare Diseases, Faculty of Medicine and University Hospital Cologne, University of Cologne, 50937 Cologne, Germany.

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Źródło:

International journal of molecular sciences [Int J Mol Sci] 2024 Feb 08; Vol. 25 (4). Date of Electronic Publication: 2024 Feb 08.

Typ publikacji:

Journal Article

MeSH Terms:

Coloboma*
Neurodevelopmental Disorders*/genetics
Humans ; Mutation, Missense ; Phenotype ; RNA Splicing Factors/genetics

Czasopismo naukowe

• na półce

Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły

Skocz do pozycji: 43.

Tytuł:

NDUFS7 variant in dogs with Leigh syndrome and its functional validation in a Drosophila melanogaster model.

Autorzy:

Christen M; Institute of Genetics, Vetsuisse Faculty, University of Bern, Bern, Switzerland.
Gregor A; Department of Human Genetics, Inselspital, University of Bern, Bern, Switzerland.; Department for Biomedical Research (DBMR), University of Bern, Bern, Switzerland.
Gutierrez-Quintana R; School of Biodiversity, One Health and Veterinary Medicine, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow, UK.
Bongers J; School of Biodiversity, One Health and Veterinary Medicine, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow, UK.
Rupp A; School of Biodiversity, One Health and Veterinary Medicine, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow, UK.
Penderis J; Vet-Extra Neurology, Stirling, UK.
Shelton GD; Department of Pathology, School of Medicine, University of California San Diego, La Jolla, CA, USA.
Jagannathan V; Institute of Genetics, Vetsuisse Faculty, University of Bern, Bern, Switzerland.
Zweier C; Department of Human Genetics, Inselspital, University of Bern, Bern, Switzerland.; Department for Biomedical Research (DBMR), University of Bern, Bern, Switzerland.
Leeb T; Institute of Genetics, Vetsuisse Faculty, University of Bern, Bern, Switzerland. .

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Źródło:

Scientific reports [Sci Rep] 2024 Feb 05; Vol. 14 (1), pp. 2975. Date of Electronic Publication: 2024 Feb 05.

Typ publikacji:

Journal Article

MeSH Terms:

Dystonic Disorders*/genetics
Dystonic Disorders*/veterinary
Leigh Disease*/genetics
Leigh Disease*/veterinary
Animals ; Dogs ; Drosophila melanogaster/genetics ; Mutation, Missense

Czasopismo naukowe

• na półce

Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły

Skocz do pozycji: 44.

Tytuł:

Counterintuitive structural and functional effects due to naturally occurring mutations targeting the active site of the disease-associated NQO1 enzyme.

Autorzy:

Pacheco-García JL; Departamento de Química Física, Universidad de Granada, Spain.
Anoz-Carbonell E; Departamento de Bioquímica y Biología Molecular y Celular, Facultad de Ciencias, Instituto de Biocomputación y Física de Sistemas Complejos (BIFI) (GBsC-CSIC Joint Unit), Universidad de Zaragoza, Spain.
Loginov DS; Institute of Microbiology - BioCeV, Academy of Sciences of the Czech Republic, Vestec, Czech Republic.
Kavan D; Institute of Microbiology - BioCeV, Academy of Sciences of the Czech Republic, Vestec, Czech Republic.
Salido E; Center for Rare Diseases (CIBERER), Hospital Universitario de Canarias, Universidad de la Laguna, Tenerife, Spain.
Man P; Institute of Microbiology - BioCeV, Academy of Sciences of the Czech Republic, Vestec, Czech Republic.
Medina M; Departamento de Bioquímica y Biología Molecular y Celular, Facultad de Ciencias, Instituto de Biocomputación y Física de Sistemas Complejos (BIFI) (GBsC-CSIC Joint Unit), Universidad de Zaragoza, Spain.
Pey AL; Departamento de Química Física, Unidad de Excelencia en Química Aplicada a Biomedicina y Medioambiente e Instituto de Biotecnología, Universidad de Granada, Spain.

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Źródło:

The FEBS journal [FEBS J] 2023 Apr; Vol. 290 (7), pp. 1855-1873. Date of Electronic Publication: 2022 Nov 25.

Typ publikacji:

Journal Article; Research Support, Non-U.S. Gov't

MeSH Terms:

Proteins*/chemistry
Mutation, Missense*
Humans ; Catalytic Domain/genetics ; Mutation ; Molecular Biology ; Computational Biology ; NAD(P)H Dehydrogenase (Quinone)/genetics ; NAD(P)H Dehydrogenase (Quinone)/metabolism

Czasopismo naukowe

• na półce

Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły

Skocz do pozycji: 45.

Tytuł:

Gene Mapping and Identification of a Missense Mutation in One Copy of VRN-A1 Affects Heading Date Variation in Wheat.

Autorzy:

Xue Q; College of Agriculture, Hubei Center for Collaborative Innovation of Grain Industry, Yangtze University, Jingzhou 434025, China.; National Engineering Laboratory for Crop Molecular Breeding, National Center of Space Mutagenesis for Crop Improvement, Institute of Crop Sciences, Chinese Academy of Agricultural Sciences, Beijing 100081, China.
Xiong H; National Engineering Laboratory for Crop Molecular Breeding, National Center of Space Mutagenesis for Crop Improvement, Institute of Crop Sciences, Chinese Academy of Agricultural Sciences, Beijing 100081, China.
Zhou C; National Engineering Laboratory for Crop Molecular Breeding, National Center of Space Mutagenesis for Crop Improvement, Institute of Crop Sciences, Chinese Academy of Agricultural Sciences, Beijing 100081, China.
Guo H; National Engineering Laboratory for Crop Molecular Breeding, National Center of Space Mutagenesis for Crop Improvement, Institute of Crop Sciences, Chinese Academy of Agricultural Sciences, Beijing 100081, China.
Zhao L; National Engineering Laboratory for Crop Molecular Breeding, National Center of Space Mutagenesis for Crop Improvement, Institute of Crop Sciences, Chinese Academy of Agricultural Sciences, Beijing 100081, China.
Xie Y; National Engineering Laboratory for Crop Molecular Breeding, National Center of Space Mutagenesis for Crop Improvement, Institute of Crop Sciences, Chinese Academy of Agricultural Sciences, Beijing 100081, China.
Gu J; National Engineering Laboratory for Crop Molecular Breeding, National Center of Space Mutagenesis for Crop Improvement, Institute of Crop Sciences, Chinese Academy of Agricultural Sciences, Beijing 100081, China.
Zhao S; National Engineering Laboratory for Crop Molecular Breeding, National Center of Space Mutagenesis for Crop Improvement, Institute of Crop Sciences, Chinese Academy of Agricultural Sciences, Beijing 100081, China.
Ding Y; National Engineering Laboratory for Crop Molecular Breeding, National Center of Space Mutagenesis for Crop Improvement, Institute of Crop Sciences, Chinese Academy of Agricultural Sciences, Beijing 100081, China.
Xu L; College of Agriculture, Hubei Center for Collaborative Innovation of Grain Industry, Yangtze University, Jingzhou 434025, China.
Liu L; National Engineering Laboratory for Crop Molecular Breeding, National Center of Space Mutagenesis for Crop Improvement, Institute of Crop Sciences, Chinese Academy of Agricultural Sciences, Beijing 100081, China.

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Źródło:

International journal of molecular sciences [Int J Mol Sci] 2023 Mar 05; Vol. 24 (5). Date of Electronic Publication: 2023 Mar 05.

Typ publikacji:

Journal Article

MeSH Terms:

Triticum*/genetics
Mutation, Missense*
Plant Breeding ; Chromosome Mapping ; Quantitative Trait Loci ; Alleles

Czasopismo naukowe

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Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły

Skocz do pozycji: 46.

Tytuł:

Predicting potentially pathogenic effects of h RPE65 missense mutations: a computational strategy based on molecular dynamics simulations.

Autorzy:

Poli G; Department of Pharmacy, University of Pisa, Pisa, Italy.
Barravecchia I; Department of Pharmacy, University of Pisa, Pisa, Italy.; Institute of Life Sciences, Scuola Superiore Sant'Anna, Pisa, Italy.
Demontis GC; Department of Pharmacy, University of Pisa, Pisa, Italy.
Sodi A; Department of Neurosciences, Psychology, Drug Research and Child Health Eye Clinic, University of Florence, AOU Careggi, Florence, Italy.
Saba A; Department of Surgical Pathology, Molecular Medicine and of the Critical Area, University of Pisa, Pisa, Italy.
Rizzo S; Ophthalmology Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.; Catholic University Sacro Cuore, Rome, Italy.; Consiglio Nazionale delle Ricerche, Istituto di Neuroscienze, Pisa, Italy.
Macchia M; Department of Pharmacy, University of Pisa, Pisa, Italy.
Tuccinardi T; Department of Pharmacy, University of Pisa, Pisa, Italy.

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Źródło:

Journal of enzyme inhibition and medicinal chemistry [J Enzyme Inhib Med Chem] 2022 Dec; Vol. 37 (1), pp. 1765-1772.

Typ publikacji:

Journal Article

MeSH Terms:

Mutation, Missense*
Retinitis Pigmentosa*/genetics
cis-trans-Isomerases*/genetics
Humans ; Molecular Dynamics Simulation

Czasopismo naukowe

• na półce

Pełny tekst  Link otwiera się w nowym oknieSzczegóły

Skocz do pozycji: 47.

Tytuł:

New missense mutation p.Trp387Ser affecting the functionally important TrpXXTrp motif in the TSR1 repeat of ADAMTS13 metalloproteinase: Case report.

Autorzy:

Poznyakova J; Laboratory of Genetic engineering, National Medical Research Center for Hematology Ministry of Health, Moscow, Russia.
Pshenichnikova O; Laboratory of Genetic engineering, National Medical Research Center for Hematology Ministry of Health, Moscow, Russia.
Surin V; Laboratory of Genetic engineering, National Medical Research Center for Hematology Ministry of Health, Moscow, Russia.
Klebanova E; Department of resuscitation and intensive care, National Medical Research Center of Hematology Ministry of Health, Moscow, Russia.
Galstyan G; Department of resuscitation and intensive care, National Medical Research Center of Hematology Ministry of Health, Moscow, Russia.

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Źródło:

Clinical and experimental pharmacology & physiology [Clin Exp Pharmacol Physiol] 2022 Nov; Vol. 49 (11), pp. 1150-1155. Date of Electronic Publication: 2022 Jul 22.

Typ publikacji:

Case Reports; Journal Article

MeSH Terms:

Mutation, Missense*
Purpura, Thrombotic Thrombocytopenic*/diagnosis
Purpura, Thrombotic Thrombocytopenic*/genetics
ADAMTS13 Protein/genetics ; ADAMTS13 Protein/metabolism ; DNA Primers ; Humans ; Mutation ; Ribosomal Proteins ; Thrombospondins/genetics

Czasopismo naukowe

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Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły

Skocz do pozycji: 48.

Tytuł:

A novel missense variant in OTUD5 causes X-linked multiple congenital anomalies-neurodevelopmental syndrome.

Autorzy:

Tian W; Prenatal Diagnosis Center, The Third Affiliated Hospital of Zhengzhou University, Maternal and Child Health Hospital of Henan Province, Zhengzhou, China.
Li H; Prenatal Diagnosis Center, The Third Affiliated Hospital of Zhengzhou University, Maternal and Child Health Hospital of Henan Province, Zhengzhou, China.
Li Y; Prenatal Diagnosis Center, The Third Affiliated Hospital of Zhengzhou University, Maternal and Child Health Hospital of Henan Province, Zhengzhou, China.
Guo J; Prenatal Diagnosis Center, The Third Affiliated Hospital of Zhengzhou University, Maternal and Child Health Hospital of Henan Province, Zhengzhou, China.
Wang H; Prenatal Diagnosis Center, The Third Affiliated Hospital of Zhengzhou University, Maternal and Child Health Hospital of Henan Province, Zhengzhou, China.
Yang B; Prenatal Diagnosis Center, The Third Affiliated Hospital of Zhengzhou University, Maternal and Child Health Hospital of Henan Province, Zhengzhou, China.
Li P; Prenatal Diagnosis Center, The Third Affiliated Hospital of Zhengzhou University, Maternal and Child Health Hospital of Henan Province, Zhengzhou, China.
Cui X; Prenatal Diagnosis Center, The Third Affiliated Hospital of Zhengzhou University, Maternal and Child Health Hospital of Henan Province, Zhengzhou, China.
Liu L; Prenatal Diagnosis Center, The Third Affiliated Hospital of Zhengzhou University, Maternal and Child Health Hospital of Henan Province, Zhengzhou, China.

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Źródło:

Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Jan; Vol. 12 (1), pp. e2325. Date of Electronic Publication: 2023 Dec 01.

Typ publikacji:

Journal Article

MeSH Terms:

Intellectual Disability*/genetics
Abnormalities, Multiple*/genetics
Male ; Humans ; Mutation, Missense ; Phenotype ; Syndrome

Czasopismo naukowe

• na półce

Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły

Skocz do pozycji: 49.

Tytuł:

Classic Galactosemia: Clinical and Computational Characterization of a Novel GALT Missense Variant (p.A303D) and a Literature Review.

Autorzy:

Forte G; Medical Genetics, National Institute of Gastroenterology-IRCCS 'Saverio de Bellis' Research Hospital, 70013 Castellana Grotte, Italy.
Buonadonna AL; Medical Genetics, National Institute of Gastroenterology-IRCCS 'Saverio de Bellis' Research Hospital, 70013 Castellana Grotte, Italy.
Pantaleo A; Medical Genetics, National Institute of Gastroenterology-IRCCS 'Saverio de Bellis' Research Hospital, 70013 Castellana Grotte, Italy.
Fasano C; Medical Genetics, National Institute of Gastroenterology-IRCCS 'Saverio de Bellis' Research Hospital, 70013 Castellana Grotte, Italy.
Capodiferro D; Section of Neonatology and Neonatal Intensive Care Unit, Department of Interdisciplinary Medicine, 'Aldo Moro' University of Bari, 70121 Bari, Italy.
Grossi V; Medical Genetics, National Institute of Gastroenterology-IRCCS 'Saverio de Bellis' Research Hospital, 70013 Castellana Grotte, Italy.
Sanese P; Medical Genetics, National Institute of Gastroenterology-IRCCS 'Saverio de Bellis' Research Hospital, 70013 Castellana Grotte, Italy.
Cariola F; Medical Genetics, National Institute of Gastroenterology-IRCCS 'Saverio de Bellis' Research Hospital, 70013 Castellana Grotte, Italy.
De Marco K; Medical Genetics, National Institute of Gastroenterology-IRCCS 'Saverio de Bellis' Research Hospital, 70013 Castellana Grotte, Italy.
Lepore Signorile M; Medical Genetics, National Institute of Gastroenterology-IRCCS 'Saverio de Bellis' Research Hospital, 70013 Castellana Grotte, Italy.
Manghisi A; Medical Genetics, National Institute of Gastroenterology-IRCCS 'Saverio de Bellis' Research Hospital, 70013 Castellana Grotte, Italy.
Guglielmi AF; Medical Genetics, National Institute of Gastroenterology-IRCCS 'Saverio de Bellis' Research Hospital, 70013 Castellana Grotte, Italy.
Simonetti S; Clinical Pathology and Neonatal Screening, Azienda Ospedaliera Universitaria Policlinico-Giovanni XXIII, 70124 Bari, Italy.
Laforgia N; Section of Neonatology and Neonatal Intensive Care Unit, Department of Interdisciplinary Medicine, 'Aldo Moro' University of Bari, 70121 Bari, Italy.
Disciglio V; Medical Genetics, National Institute of Gastroenterology-IRCCS 'Saverio de Bellis' Research Hospital, 70013 Castellana Grotte, Italy.
Simone C; Medical Genetics, National Institute of Gastroenterology-IRCCS 'Saverio de Bellis' Research Hospital, 70013 Castellana Grotte, Italy.; Medical Genetics, Department of Precision and Regenerative Medicine and Jonic Area (DiMePRe-J), University of Bari Aldo Moro, 70124 Bari, Italy.

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Źródło:

International journal of molecular sciences [Int J Mol Sci] 2023 Dec 12; Vol. 24 (24). Date of Electronic Publication: 2023 Dec 12.

Typ publikacji:

Review; Journal Article

MeSH Terms:

Galactosemias*/genetics
UTP-Hexose-1-Phosphate Uridylyltransferase*/genetics
UTP-Hexose-1-Phosphate Uridylyltransferase*/metabolism
Female ; Humans ; Galactose ; Mutation ; Mutation, Missense

Czasopismo naukowe

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Skocz do pozycji: 50.

Tytuł:

Evaluating the use of paralogous protein domains to increase data availability for missense variant classification.

Autorzy:

Gunning AC; Department of Clinical and Biomedical Sciences (Medical School, Faculty of Health and Life Sciences, University of Exeter, RILD, Barrack Road, Exeter, EX2 5DW, UK. .; Exeter Genomics Laboratory, South West Genomic Laboratory Hub, Royal Devon University Healthcare NHS Foundation Trust, RILD, Barrack Road, Exeter, EX2 5DW, UK. .
Wright CF; Department of Clinical and Biomedical Sciences (Medical School, Faculty of Health and Life Sciences, University of Exeter, RILD, Barrack Road, Exeter, EX2 5DW, UK. .

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Źródło:

Genome medicine [Genome Med] 2023 Dec 12; Vol. 15 (1), pp. 110. Date of Electronic Publication: 2023 Dec 12.

Typ publikacji:

Journal Article

MeSH Terms:

Computational Biology*
Proteins*
Humans ; Protein Domains ; Bayes Theorem ; Mutation, Missense

Czasopismo naukowe

• na półce

Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły