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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
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
An in-silico analysis of OGT gene association with diabetes mellitus.
Autorzy:
Ayodele AO; H3Africa Bioinformatics Network (H3ABioNet) Node, Centre for Genomics Research and Innovation, NABDA/FMST, Abuja, Nigeria.
Udosen B; H3Africa Bioinformatics Network (H3ABioNet) Node, Centre for Genomics Research and Innovation, NABDA/FMST, Abuja, Nigeria.; The African Computational Genomics (TACG) Research Group, MRC/UVRI, and LSHTM, Entebbe, Uganda.
Oluwagbemi OO; Department of Computer Science and Information Technology, Faculty of Natural and Applied Sciences, Sol Plaatje University, 8301, Kimberley, South Africa.; Department of Mathematical Sciences, Stellenbosch University, 7602, Stellenbosch, South Africa.
Oladipo EK; Laboratory of Molecular Biology, Immunology and Bioinformatics, Department of Microbiology, Adeleke University, 232104, Ede, Nigeria.; Genomics Unit, Helix Biogen Institute, 210214, Ogbomoso, Nigeria.
Omotuyi I; Institute for Drug Research and Development, S.E. Bogoro Center, Afe Babalola University, Ado Ekiti, Nigeria.; Molecular Biology and Molecular Simulation Center (Mols&Sims), Ado Ekiti, Nigeria.
Isewon I; Computer and Information Sciences Department, Covenant University, Ota, Ogun State, Nigeria.
Nash O; H3Africa Bioinformatics Network (H3ABioNet) Node, Centre for Genomics Research and Innovation, NABDA/FMST, Abuja, Nigeria.
Soremekun O; The African Computational Genomics (TACG) Research Group, MRC/UVRI, and LSHTM, Entebbe, Uganda.; MRC/UVRI and London School of Hygiene and Tropical Medicine London (LSHTM) Uganda Research Unit, Entebbe, Uganda.
Fatumo S; H3Africa Bioinformatics Network (H3ABioNet) Node, Centre for Genomics Research and Innovation, NABDA/FMST, Abuja, Nigeria. .; The African Computational Genomics (TACG) Research Group, MRC/UVRI, and LSHTM, Entebbe, Uganda. .; MRC/UVRI and London School of Hygiene and Tropical Medicine London (LSHTM) Uganda Research Unit, Entebbe, Uganda. .
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Źródło:
BMC research notes [BMC Res Notes] 2024 Mar 27; Vol. 17 (1), pp. 89. Date of Electronic Publication: 2024 Mar 27.
Typ publikacji:
Journal Article
MeSH Terms:
Point Mutation*
Diabetes Mellitus*/genetics
Humans ; Molecular Docking Simulation ; Ligands ; Mutation ; Protein Processing, Post-Translational
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Evolutionary graph theory beyond pairwise interactions: Higher-order network motifs shape times to fixation in structured populations.
Autorzy:
Kuo YP; Computational Biology Department, School of Computer Science, Carnegie Mellon University, Pittsburgh, Pennsylvania, United States of America.; Joint Carnegie Mellon University-University of Pittsburgh Ph.D. Program in Computational Biology, Carnegie Mellon University, Pittsburgh, Pennsylvania, United States of America.
Carja O; Computational Biology Department, School of Computer Science, Carnegie Mellon University, Pittsburgh, Pennsylvania, United States of America.
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Źródło:
PLoS computational biology [PLoS Comput Biol] 2024 Mar 15; Vol. 20 (3), pp. e1011905. Date of Electronic Publication: 2024 Mar 15 (Print Publication: 2024).
Typ publikacji:
Journal Article
MeSH Terms:
Biological Evolution*
Mutation Rate*
Mutation ; Algorithms ; Mathematics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Unravelling the link between SARS-CoV-2 mutation frequencies, patient comorbidities, and structural dynamics.
Autorzy:
Azzeri A; Faculty of Medicine and Health Sciences, Universiti Sains Islam Malaysia, Nilai, Negeri Sembilan, Malaysia.
Mohamed NA; Faculty of Medicine and Health Sciences, Universiti Sains Islam Malaysia, Nilai, Negeri Sembilan, Malaysia.
Wan Rosli SH; Faculty of Medicine and Health Sciences, Universiti Sains Islam Malaysia, Nilai, Negeri Sembilan, Malaysia.
Abdul Samat MN; Department of Medical Microbiology and Immunology, Faculty of Medicine, Universiti Kebangsaan Malaysia, Cheras, Kuala Lumpur, Malaysia.
Rashid ZZ; Department of Medical Microbiology and Immunology, Faculty of Medicine, Universiti Kebangsaan Malaysia, Cheras, Kuala Lumpur, Malaysia.
Mohamad Jamali MA; Faculty of Science and Technology, Universiti Sains Islam Malaysia, Nilai, Negeri Sembilan, Malaysia.
Md Zoqratt MZH; Fast Genomics Solutions, Subang Jaya, Selangor Darul Ehsan, Malaysia.; School of Science, Monash University Malaysia, Bandar Sunway, Selangor, Malaysia.
Mohammad Nasir MA; Fast Genomics Solutions, Subang Jaya, Selangor Darul Ehsan, Malaysia.; School of Science, Monash University Malaysia, Bandar Sunway, Selangor, Malaysia.
Ranjit Singh HK; Fast Genomics Solutions, Subang Jaya, Selangor Darul Ehsan, Malaysia.; School of Science, Monash University Malaysia, Bandar Sunway, Selangor, Malaysia.
Azmi L; Faculty of Medicine and Health Sciences, Universiti Sains Islam Malaysia, Nilai, Negeri Sembilan, Malaysia.
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Źródło:
PloS one [PLoS One] 2024 Mar 14; Vol. 19 (3), pp. e0291892. Date of Electronic Publication: 2024 Mar 14 (Print Publication: 2024).
Typ publikacji:
Journal Article
MeSH Terms:
Mutation Rate*
COVID-19*/epidemiology
COVID-19*/genetics
Humans ; SARS-CoV-2/genetics ; Mutation ; Amino Acid Substitution ; Molecular Dynamics Simulation
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Three-Dimensional Structural Stability and Local Electrostatic Potential at Point Mutations in Spike Protein of SARS-CoV-2 Coronavirus.
Autorzy:
Hristova SH; Department of Medical Physics and Biophysics, Medical Faculty, Medical University-Sofia, Zdrave Street 2, 1431 Sofia, Bulgaria.
Zhivkov AM; Scientific Research Center, 'St. Kliment Ohridski' Sofia University, 8 Dragan Tsankov Blvd., 1164 Sofia, Bulgaria.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2024 Feb 11; Vol. 25 (4). Date of Electronic Publication: 2024 Feb 11.
Typ publikacji:
Journal Article
MeSH Terms:
COVID-19*
Point Mutation*
Spike Glycoprotein, Coronavirus*/genetics
Spike Glycoprotein, Coronavirus*/physiology
Humans ; Amino Acids ; Angiotensin-Converting Enzyme 2 ; Mutation ; Protein Binding ; SARS-CoV-2/genetics ; Static Electricity
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
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
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Hotspot propensity across mutational processes.
Autorzy:
Arnedo-Pac C; Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology, Barcelona, Spain.; Centro de Investigación Biomédica en Red en Cáncer (CIBERONC), Instituto de Salud Carlos III, Madrid, Spain.
Muiños F; Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology, Barcelona, Spain.; Centro de Investigación Biomédica en Red en Cáncer (CIBERONC), Instituto de Salud Carlos III, Madrid, Spain.
Gonzalez-Perez A; Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology, Barcelona, Spain. .; Centro de Investigación Biomédica en Red en Cáncer (CIBERONC), Instituto de Salud Carlos III, Madrid, Spain. .
Lopez-Bigas N; Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology, Barcelona, Spain. .; Centro de Investigación Biomédica en Red en Cáncer (CIBERONC), Instituto de Salud Carlos III, Madrid, Spain. .; Institució Catalana de Recerca i Estudis Avançats (ICREA), Barcelona, Spain. .; Department of Medicine and Life Sciences (MELIS), Universitat Pompeu Fabra (UPF), Barcelona, Spain. .
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Źródło:
Molecular systems biology [Mol Syst Biol] 2024 Jan; Vol. 20 (1), pp. 6-27. Date of Electronic Publication: 2023 Dec 20.
Typ publikacji:
Journal Article
MeSH Terms:
Mutation Rate*
Neoplasms*/genetics
Humans ; Mutation ; Base Sequence ; Nucleotides
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Truncated FRMD7 proteins in congenital Nystagmus: novel frameshift mutations and proteasomal pathway implications.
Autorzy:
Su Y; Department of Medical Genetics, School of Basic Medical Science, Wuhan University, Wuhan, China.; The First Clinical College of Wuhan University, Wuhan, China.
Zhang J; Xiangyang Central Hospital, Affiliated Hospital of Hubei University of Arts and Science, Xiangyang, 441021, China.
Gao J; Department of Medical Genetics, School of Basic Medical Science, Wuhan University, Wuhan, China.
Ding G; Department of Medical Genetics, School of Basic Medical Science, Wuhan University, Wuhan, China.
Jiang H; Department of Medical Genetics, School of Basic Medical Science, Wuhan University, Wuhan, China.
Liu Y; Xiangyang Central Hospital, Affiliated Hospital of Hubei University of Arts and Science, Xiangyang, 441021, China.
Li Y; Xiangyang Central Hospital, Affiliated Hospital of Hubei University of Arts and Science, Xiangyang, 441021, China. .; School of Basic Medicine, Hubei University of Arts and Science, Xiangyang, 441053, China. .
Yang G; Department of Medical Genetics, School of Basic Medical Science, Wuhan University, Wuhan, China. .; Hubei Provincial Key Laboratory of Developmentally Originated Disease, Wuhan, 430071, China. .
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Źródło:
BMC medical genomics [BMC Med Genomics] 2024 Jan 26; Vol. 17 (1), pp. 36. Date of Electronic Publication: 2024 Jan 26.
Typ publikacji:
Journal Article
MeSH Terms:
Frameshift Mutation*
Nystagmus, Congenital*/genetics
Humans ; Base Sequence ; Membrane Proteins/genetics ; Cytoskeletal Proteins/genetics ; Pedigree ; DNA Mutational Analysis ; Mutation
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
GTP-Bound N-Ras Conformational States and Substates Are Modulated by Membrane and Point Mutation.
Autorzy:
Farcas A; Department of Molecular and Biomolecular Physics, National Institute for Research and Development of Isotopic and Molecular Technologies, 67-103 Donat Street, 400293 Cluj-Napoca, Romania.
Janosi L; Department of Molecular and Biomolecular Physics, National Institute for Research and Development of Isotopic and Molecular Technologies, 67-103 Donat Street, 400293 Cluj-Napoca, Romania.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2024 Jan 24; Vol. 25 (3). Date of Electronic Publication: 2024 Jan 24.
Typ publikacji:
Journal Article
MeSH Terms:
Guanine Nucleotide Exchange Factors*/genetics
Point Mutation*
Proto-Oncogene Proteins p21(ras)*/genetics
Proto-Oncogene Proteins p21(ras)*/physiology
Guanosine Triphosphate/metabolism ; Mutation ; ras Proteins/metabolism ; Molecular Dynamics Simulation
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
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
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
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
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Genetic analysis and literature review of a Poirier-Bienvenu neurodevelopmental syndrome family line caused by a de novo frameshift variant in CSNK2B.
Autorzy:
Li D; Gansu Provincial Maternity and Child-care Hospital, Medical Genetics Center, Gansu Provincial Clinical Research Center for Birth Defects and Rare Diseases, Lanzhou, Gansu, China.; School of Public Health, Gansu University of Traditional Chinese Medicine, Lanzhou, Gansu, China.
Zhou B; Gansu Provincial Maternity and Child-care Hospital, Medical Genetics Center, Gansu Provincial Clinical Research Center for Birth Defects and Rare Diseases, Lanzhou, Gansu, China.
Tian X; Gansu Provincial Maternity and Child-care Hospital, Medical Genetics Center, Gansu Provincial Clinical Research Center for Birth Defects and Rare Diseases, Lanzhou, Gansu, China.; School of Public Health, Gansu University of Traditional Chinese Medicine, Lanzhou, Gansu, China.
Chen X; Gansu Provincial Maternity and Child-care Hospital, Medical Genetics Center, Gansu Provincial Clinical Research Center for Birth Defects and Rare Diseases, Lanzhou, Gansu, China.
Wang Y; Gansu Provincial Maternity and Child-care Hospital, Medical Genetics Center, Gansu Provincial Clinical Research Center for Birth Defects and Rare Diseases, Lanzhou, Gansu, China.
Hao S; Gansu Provincial Maternity and Child-care Hospital, Medical Genetics Center, Gansu Provincial Clinical Research Center for Birth Defects and Rare Diseases, Lanzhou, Gansu, China.
Zhang C; Gansu Provincial Maternity and Child-care Hospital, Medical Genetics Center, Gansu Provincial Clinical Research Center for Birth Defects and Rare Diseases, Lanzhou, Gansu, China.
Hui L; Gansu Provincial Maternity and Child-care Hospital, Medical Genetics Center, Gansu Provincial Clinical Research Center for Birth Defects and Rare Diseases, Lanzhou, Gansu, China.; School of Public Health, Gansu University of Traditional Chinese Medicine, Lanzhou, Gansu, China.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Jan; Vol. 12 (1), pp. e2327. Date of Electronic Publication: 2023 Nov 30.
Typ publikacji:
Review; Case Reports; Journal Article
MeSH Terms:
Frameshift Mutation*
Intellectual Disability*/genetics
Male ; Humans ; Mutation ; Exome Sequencing
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
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
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
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
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
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
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
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
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
TRA2B Gene Splice Variant Linked to Seizures and Neurodevelopmental Delay: A Second Case Study.
Autorzy:
Shatokhina O; Federal State Budgetary Institution 'Research Centre For Medical Genetics', 115478 Moscow, Russia.
Kovalskaia V; Federal State Budgetary Institution 'Research Centre For Medical Genetics', 115478 Moscow, Russia.
Sparber P; Federal State Budgetary Institution 'Research Centre For Medical Genetics', 115478 Moscow, Russia.
Sharkova I; Federal State Budgetary Institution 'Research Centre For Medical Genetics', 115478 Moscow, Russia.
Mishina I; Federal State Budgetary Institution 'Research Centre For Medical Genetics', 115478 Moscow, Russia.
Kuznetsova V; LLC 'Evogen', 115162 Moscow, Russia.
Ryzhkova O; Federal State Budgetary Institution 'Research Centre For Medical Genetics', 115478 Moscow, Russia.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2023 Oct 25; Vol. 24 (21). Date of Electronic Publication: 2023 Oct 25.
Typ publikacji:
Case Reports
MeSH Terms:
Frameshift Mutation*
Nervous System Malformations*/genetics
Humans ; Female ; Mutation ; Exons/genetics ; RNA, Messenger/genetics ; Seizures/genetics ; Serine-Arginine Splicing Factors/genetics ; Nerve Tissue Proteins/genetics
Raport
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Sequence dependencies and mutation rates of localized mutational processes in cancer.
Autorzy:
Poulsgaard GA; Department of Clinical Medicine, Aarhus University, Palle Juul-Jensens Boulevard 82, 8200, Aarhus N, Denmark.; Department of Molecular Medicine (MOMA), Aarhus University Hospital, Palle Juul-Jensens Boulevard 99, 8200, Aarhus N, Denmark.
Sørensen SG; Department of Clinical Medicine, Aarhus University, Palle Juul-Jensens Boulevard 82, 8200, Aarhus N, Denmark.; Department of Molecular Medicine (MOMA), Aarhus University Hospital, Palle Juul-Jensens Boulevard 99, 8200, Aarhus N, Denmark.
Juul RI; Department of Clinical Medicine, Aarhus University, Palle Juul-Jensens Boulevard 82, 8200, Aarhus N, Denmark.; Department of Molecular Medicine (MOMA), Aarhus University Hospital, Palle Juul-Jensens Boulevard 99, 8200, Aarhus N, Denmark.
Nielsen MM; Department of Clinical Medicine, Aarhus University, Palle Juul-Jensens Boulevard 82, 8200, Aarhus N, Denmark.; Department of Molecular Medicine (MOMA), Aarhus University Hospital, Palle Juul-Jensens Boulevard 99, 8200, Aarhus N, Denmark.
Pedersen JS; Department of Clinical Medicine, Aarhus University, Palle Juul-Jensens Boulevard 82, 8200, Aarhus N, Denmark. .; Department of Molecular Medicine (MOMA), Aarhus University Hospital, Palle Juul-Jensens Boulevard 99, 8200, Aarhus N, Denmark. .; Bioinformatics Research Centre (BiRC), Aarhus University, University City 81, Building 1872, 3Rd Floor, 8000, Aarhus C, Denmark. .
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Źródło:
Genome medicine [Genome Med] 2023 Aug 17; Vol. 15 (1), pp. 63. Date of Electronic Publication: 2023 Aug 17.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Mutation Rate*
Neoplasms*/genetics
Humans ; Mutation ; DNA Damage ; Genomics
Czasopismo naukowe
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Tytuł:
Structure, dynamics and free energy studies on the effect of point mutations on SARS-CoV-2 spike protein binding with ACE2 receptor.
Autorzy:
Rucker G; Chemical Engineering Department, Tennessee Technological University, Cookeville, TN, United States of America.
Qin H; Computer Science Department, University of Tennessee Chattanooga, Chattanooga, TN, United States of America.
Zhang L; Chemical Engineering Department, University of Rhode Island, Kingston, RI, United States of America.
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Źródło:
PloS one [PLoS One] 2023 Oct 05; Vol. 18 (10), pp. e0289432. Date of Electronic Publication: 2023 Oct 05 (Print Publication: 2023).
Typ publikacji:
Journal Article; Research Support, U.S. Gov't, Non-P.H.S.
MeSH Terms:
Point Mutation*
COVID-19*
Humans ; Angiotensin-Converting Enzyme 2/genetics ; Pandemics ; SARS-CoV-2/genetics ; Spike Glycoprotein, Coronavirus/genetics ; Protein Binding ; Mutation ; Molecular Dynamics Simulation
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Predicting regional somatic mutation rates using DNA motifs.
Autorzy:
Liu C; Department of Chemistry and Biochemistry, University of California San Diego, La Jolla, California, United States of America.
Wang Z; State Key Laboratory of Remote Sensing Science, Center for Global Change and Public Health, Faculty of Geographical Science, Beijing Normal University, Beijing, China.
Wang J; Department of Chemistry and Biochemistry, University of California San Diego, La Jolla, California, United States of America.
Liu C; Department of Chemistry and Biochemistry, University of California San Diego, La Jolla, California, United States of America.
Wang M; Bioinformatics and Systems Biology Graduate Program, University of California San Diego, La Jolla, California, United States of America.
Ngo V; Bioinformatics and Systems Biology Graduate Program, University of California San Diego, La Jolla, California, United States of America.
Wang W; Department of Chemistry and Biochemistry, University of California San Diego, La Jolla, California, United States of America.; Bioinformatics and Systems Biology Graduate Program, University of California San Diego, La Jolla, California, United States of America.; Department of Cellular and Molecular Medicine, University of California San Diego, La Jolla, California, United States of America.
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Źródło:
PLoS computational biology [PLoS Comput Biol] 2023 Oct 02; Vol. 19 (10), pp. e1011536. Date of Electronic Publication: 2023 Oct 02 (Print Publication: 2023).
Typ publikacji:
Journal Article
MeSH Terms:
Mutation Rate*
Neoplasms*/genetics
Humans ; Nucleotide Motifs/genetics ; Mutation/genetics ; Epigenesis, Genetic/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Wyświetlanie 1-20 z 527088

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