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Wyszukujesz frazę ""Missense"" wg kryterium: Temat


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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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

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