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Tytuł:
Emden: A novel method integrating graph and transformer representations for predicting the effect of mutations on clinical drug response.
Autorzy:
Liu Z; Shanghai Mental Health Center, Shanghai Jiao Tong University School of Medicine, School of Biomedical Engineering, Shanghai Jiao Tong University, Shanghai, China.
Bao Y; Shanghai Mental Health Center, Shanghai Jiao Tong University School of Medicine, School of Biomedical Engineering, Shanghai Jiao Tong University, Shanghai, China.
Wang W; Shanghai Mental Health Center, Shanghai Jiao Tong University School of Medicine, School of Biomedical Engineering, Shanghai Jiao Tong University, Shanghai, China.
Pan L; Department of Thoracic Surgery, Zhongshan Hospital, Fudan University, Shanghai, China.
Wang H; School of Information Science and Technology, Institute of Computational Biology, Northeast Normal University, Changchun, China. Electronic address: .
Lin GN; Shanghai Mental Health Center, Shanghai Jiao Tong University School of Medicine, School of Biomedical Engineering, Shanghai Jiao Tong University, Shanghai, China; Shanghai Key Laboratory of Psychotic Disorders, Shanghai, China. Electronic address: .
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Źródło:
Computers in biology and medicine [Comput Biol Med] 2023 Dec; Vol. 167, pp. 107678. Date of Electronic Publication: 2023 Nov 10.
Typ publikacji:
Journal Article
MeSH Terms:
Mutation, Missense*
Genomics*
Mutation ; Learning ; Molecular Targeted Therapy
Czasopismo naukowe
Szczegóły
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
Szczegóły
Tytuł:
MMPatho: Leveraging Multilevel Consensus and Evolutionary Information for Enhanced Missense Mutation Pathogenic Prediction.
Autorzy:
Ge F; School of Geographic and Biologic Information, Nanjing University of Posts and Telecommunications, 9 Wenyuanlu, Nanjing 210023, China.; Center for Research Innovation and Biomedical Informatics, Faculty of Medical Technology, Mahidol University, Bangkok 10700, Thailand.
Arif M; College of Science and Engineering, Hamad Bin Khalifa University, Doha 34110, Qatar.; Department of Community Medical Technology, Faculty of Medical Technology, Mahidol University, Bangkok 10700, Thailand.
Yan Z; School of Computer Science and Engineering, Nanjing University of Science and Technology, 200 Xiaolingwei, Nanjing 210094, China.
Alahmadi H; College of Computer Science and Engineering, Taibah University, Madinah 344, Saudi Arabia.
Worachartcheewan A; Department of Community Medical Technology, Faculty of Medical Technology, Mahidol University, Bangkok 10700, Thailand.
Yu DJ; School of Computer Science and Engineering, Nanjing University of Science and Technology, 200 Xiaolingwei, Nanjing 210094, China.
Shoombuatong W; Center for Research Innovation and Biomedical Informatics, Faculty of Medical Technology, Mahidol University, Bangkok 10700, Thailand.
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Źródło:
Journal of chemical information and modeling [J Chem Inf Model] 2023 Nov 27; Vol. 63 (22), pp. 7239-7257. Date of Electronic Publication: 2023 Nov 10.
Typ publikacji:
Journal Article
MeSH Terms:
Computational Biology*
Mutation, Missense*
Humans ; Reproducibility of Results ; Consensus ; Proteins
Czasopismo naukowe
Szczegóły
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:
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
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Comparison of immunohistochemistry and next-generation sequencing results in oncogenic PTEN missense mutations.
Autorzy:
Kim M; Department of Pathology, School of Medicine, Kyungpook National University, Kyungpook National University Chilgok Hospital, Daegu, Republic of Korea.
Kim J; Department of Pathology, School of Medicine, Kyungpook National University, Kyungpook National University Chilgok Hospital, Daegu, Republic of Korea.
Seo AN; Department of Pathology, School of Medicine, Kyungpook National University, Kyungpook National University Chilgok Hospital, Daegu, Republic of Korea.
Jeong JY; Department of Pathology, School of Medicine, Kyungpook National University, Kyungpook National University Chilgok Hospital, Daegu, Republic of Korea.
Park NJ; Department of Pathology, School of Medicine, Kyungpook National University, Kyungpook National University Chilgok Hospital, Daegu, Republic of Korea.
Chong GO; Department of Obstetrics and Gynecology, School of Medicine, Kyungpook National University, Kyungpook National University Chilgok Hospital, Daegu, Republic of Korea.
Hong DG; Department of Obstetrics and Gynecology, School of Medicine, Kyungpook National University, Kyungpook National University Chilgok Hospital, Daegu, Republic of Korea.
Park JY; Department of Pathology, School of Medicine, Kyungpook National University, Kyungpook National University Chilgok Hospital, Daegu, Republic of Korea. Electronic address: .
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Źródło:
Pathology, research and practice [Pathol Res Pract] 2023 Nov; Vol. 251, pp. 154879. Date of Electronic Publication: 2023 Oct 10.
Typ publikacji:
Comparative Study; Journal Article
MeSH Terms:
Mutation, Missense*
PTEN Phosphohydrolase*/genetics
Female ; Humans ; High-Throughput Nucleotide Sequencing ; Immunohistochemistry ; Mutation ; Retrospective Studies
Czasopismo naukowe
Szczegóły
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:
The complex impact of cancer-related missense mutations on the stability and on the biophysical and biochemical properties of MAPK1 and MAPK3 somatic variants.
Autorzy:
Petrosino M; Chair of Pharmacology, Section of Medicine, University of Fribourg, Fribourg, Switzerland.
Novak L; Dipartimento di Scienze Biochimiche 'A. Rossi Fanelli', Sapienza University of Rome, Rome, Italy.
Pasquo A; ENEA CR Frascati, Diagnostics and Metrology Laboratory FSN-TECFIS-DIM, Frascati, Italy.
Turina P; Department of Pharmacy and Biotechnology, University of Bologna, Bologna, Italy.
Capriotti E; Department of Pharmacy and Biotechnology, University of Bologna, Bologna, Italy.
Minicozzi V; Department of Physics, University of Rome Tor Vergata, Via della Ricerca Scientifica 1, 00133, Rome, Italy.
Consalvi V; Dipartimento di Scienze Biochimiche 'A. Rossi Fanelli', Sapienza University of Rome, Rome, Italy.
Chiaraluce R; Chair of Pharmacology, Section of Medicine, University of Fribourg, Fribourg, Switzerland. .; Dipartimento di Scienze Biochimiche 'A. Rossi Fanelli', Sapienza University of Rome, Rome, Italy. .
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Źródło:
Human genomics [Hum Genomics] 2023 Oct 27; Vol. 17 (1), pp. 95. Date of Electronic Publication: 2023 Oct 27.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Mutation, Missense*/genetics
Neoplasms*/genetics
Neoplasms*/metabolism
Humans ; Mitogen-Activated Protein Kinase 1/metabolism ; Phosphorylation ; Protein Serine-Threonine Kinases/metabolism ; Signal Transduction
Czasopismo naukowe
Szczegóły
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
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
A novel heterozygous ZBTB18 missense mutation in a family with non-syndromic intellectual disability.
Autorzy:
Li N; National Center for Birth Defect Monitoring, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China.; Key Laboratory of Birth Defects and Related Diseases of Women and Children, Sichuan University, Ministry of Education, Chengdu, Sichuan, China.
Kang H; National Center for Birth Defect Monitoring, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China.; Key Laboratory of Birth Defects and Related Diseases of Women and Children, Sichuan University, Ministry of Education, Chengdu, Sichuan, China.
Zou Y; Department of Gynaecology and Obstetrics, Changyi Maternal and Child Care Hospital, Weifang, Shandong, China.
Liu Z; National Center for Birth Defect Monitoring, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China.; Key Laboratory of Birth Defects and Related Diseases of Women and Children, Sichuan University, Ministry of Education, Chengdu, Sichuan, China.
Deng Y; National Center for Birth Defect Monitoring, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China.; Key Laboratory of Birth Defects and Related Diseases of Women and Children, Sichuan University, Ministry of Education, Chengdu, Sichuan, China.
Wang M; National Center for Birth Defect Monitoring, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China.; Key Laboratory of Birth Defects and Related Diseases of Women and Children, Sichuan University, Ministry of Education, Chengdu, Sichuan, China.
Li L; National Center for Birth Defect Monitoring, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China.; Key Laboratory of Birth Defects and Related Diseases of Women and Children, Sichuan University, Ministry of Education, Chengdu, Sichuan, China.
Qin H; Department of Gynaecology and Obstetrics, Wuhou District People's Hospital, Chengdu, Sichuan, China.
Qiu X; Department of Obstetrics and Gynecology, Pidu District People's Hospital, Chengdu, China.
Wang Y; National Center for Birth Defect Monitoring, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China.; Key Laboratory of Birth Defects and Related Diseases of Women and Children, Sichuan University, Ministry of Education, Chengdu, Sichuan, China.
Zhu J; National Center for Birth Defect Monitoring, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China.; Key Laboratory of Birth Defects and Related Diseases of Women and Children, Sichuan University, Ministry of Education, Chengdu, Sichuan, China.
Agostino M; Faculty of Health Sciences, Curtin University, Bentley, Australia.; Curtin Institute for Computation, Curtin University, Bentley, Australia.; Curtin Medical School, Curtin University, Bentley, Australia.
Heng JI; Faculty of Health Sciences, Curtin University, Bentley, Australia. .
Yu P; National Center for Birth Defect Monitoring, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China. .; Key Laboratory of Birth Defects and Related Diseases of Women and Children, Sichuan University, Ministry of Education, Chengdu, Sichuan, China. .
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Źródło:
Neurogenetics [Neurogenetics] 2023 Oct; Vol. 24 (4), pp. 251-262. Date of Electronic Publication: 2023 Jul 31.
Typ publikacji:
Journal Article
MeSH Terms:
Intellectual Disability*/genetics
Intellectual Disability*/pathology
Mutation, Missense*
Child ; Humans ; Family ; Mutation ; Pedigree ; Proteins/genetics
Czasopismo naukowe
Szczegóły
Tytuł:
Functional and structural impact of 10 ACADM missense mutations on human medium chain acyl-Coa dehydrogenase.
Autorzy:
Madeira CA; Research Institute for Medicines, Faculty of Pharmacy, Universidade de Lisboa, Av. Prof. Gama Pinto, 1649-003 Lisboa, Portugal.
Anselmo C; Research Institute for Medicines, Faculty of Pharmacy, Universidade de Lisboa, Av. Prof. Gama Pinto, 1649-003 Lisboa, Portugal.
Costa JM; Instituto de Tecnologia Química e Biológica António Xavier, Universidade Nova de Lisboa, Av. da República, 2780-157 Oeiras, Portugal.
Bonito CA; , Faculty of Sciences, University of Porto, Rua do Campo Alegre, 4169-007 Porto, Portugal.
Ferreira RJ; Red Glead Discovery, Medicon Village, SE-223 81 Lund, Sweden.
Santos DJVA; , Faculty of Sciences, University of Porto, Rua do Campo Alegre, 4169-007 Porto, Portugal; Center for Research in Biosciences & Health Technologies (CBIOS), Universidade Lusófona de Humanidades e Tecnologias, Lisboa, Portugal.
Wanders RJ; Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Amsterdam University Medical Centers-University of Amsterdam, 1105 AZ Amsterdam, The Netherlands.
Vicente JB; Instituto de Tecnologia Química e Biológica António Xavier, Universidade Nova de Lisboa, Av. da República, 2780-157 Oeiras, Portugal. Electronic address: .
Ventura FV; Research Institute for Medicines, Faculty of Pharmacy, Universidade de Lisboa, Av. Prof. Gama Pinto, 1649-003 Lisboa, Portugal. Electronic address: .
Leandro P; Research Institute for Medicines, Faculty of Pharmacy, Universidade de Lisboa, Av. Prof. Gama Pinto, 1649-003 Lisboa, Portugal. Electronic address: .
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Źródło:
Biochimica et biophysica acta. Molecular basis of disease [Biochim Biophys Acta Mol Basis Dis] 2023 Oct; Vol. 1869 (7), pp. 166766. Date of Electronic Publication: 2023 May 29.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Mutation, Missense*
Flavin-Adenine Dinucleotide*/metabolism
Humans ; Acyl-CoA Dehydrogenase/genetics ; Acyl-CoA Dehydrogenase/metabolism ; Mutation
SCR Disease Name:
Medium chain acyl CoA dehydrogenase deficiency
Czasopismo naukowe
Szczegóły
Tytuł:
Identification of Missense Variants Affecting Carcass Traits for Hanwoo Precision Breeding.
Autorzy:
Lee DJ; Division of Animal & Dairy Science, Chungnam National University, Daejeon 34134, Republic of Korea.
Kim Y; Department of Bio-AI Convergence, Chungnam National University, Daejeon 34134, Republic of Korea.
Dinh PTN; Department of Bio-AI Convergence, Chungnam National University, Daejeon 34134, Republic of Korea.
Chung Y; Division of Animal & Dairy Science, Chungnam National University, Daejeon 34134, Republic of Korea.
Lee D; Division of Animal & Dairy Science, Chungnam National University, Daejeon 34134, Republic of Korea.
Kim Y; Quantomic Research & Solution, Daejeon 34134, Republic of Korea.
Lee SH; Division of Animal & Dairy Science, Chungnam National University, Daejeon 34134, Republic of Korea.
Choi I; Division of Animal & Dairy Science, Chungnam National University, Daejeon 34134, Republic of Korea.
Lee SH; Department of Bio-AI Convergence, Chungnam National University, Daejeon 34134, Republic of Korea.
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Źródło:
Genes [Genes (Basel)] 2023 Sep 22; Vol. 14 (10). Date of Electronic Publication: 2023 Sep 22.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Mutation, Missense*
Genome*
Cattle/genetics ; Animals ; Phenotype ; Meat/analysis ; Genomics
Czasopismo naukowe
Szczegóły
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
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Facile Method for High-throughput Identification of Stabilizing Mutations.
Autorzy:
Christensen S; Department of Biochemistry and Structural Biology, Lund University, Lund, Sweden.
Wernersson C; Department of Biochemistry and Structural Biology, Lund University, Lund, Sweden.
André I; Department of Biochemistry and Structural Biology, Lund University, Lund, Sweden. Electronic address: .
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Źródło:
Journal of molecular biology [J Mol Biol] 2023 Sep 15; Vol. 435 (18), pp. 168209. Date of Electronic Publication: 2023 Jul 20.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Amino Acid Sequence*/genetics
Mutation, Missense*
Protein Folding*
Protein Stability*
Sequence Analysis, Protein*/methods
Adenylate Kinase/chemistry ; Adenylate Kinase/genetics ; High-Throughput Screening Assays/methods ; Temperature
Czasopismo naukowe
Szczegóły
Tytuł:
A novel missense mutation in the CRYBA2 caused autosomal dominant presenile cataract in a Chinese family.
Autorzy:
Kong Y; Department of Ophthalmology, The 2nd Affiliated Hospital of Kunming Medical University, Kunming, 650500, Yunnan, China.
Yi H; Department of Cell Biology and Medical Genetics, Faculty of Basic Medical Science, Kunming Medical University, Kunming, 650500, Yunnan, China.
Li F; Department of Pathology and Pathophysiology, School of Medicine, Yunnan University, Kunming, 650500, Yunnan, China.
Duan X; Department of Cell Biology and Medical Genetics, Faculty of Basic Medical Science, Kunming Medical University, Kunming, 650500, Yunnan, China.
Yang L; Department of Cell Biology and Medical Genetics, Faculty of Basic Medical Science, Kunming Medical University, Kunming, 650500, Yunnan, China.
Fan X; Department of Ophthalmology, The 2nd Affiliated Hospital of Kunming Medical University, Kunming, 650500, Yunnan, China.
Wu G; Department of Ophthalmology, The 2nd Affiliated Hospital of Kunming Medical University, Kunming, 650500, Yunnan, China.
Ma M; Department of Ophthalmology, The 2nd Affiliated Hospital of Kunming Medical University, Kunming, 650500, Yunnan, China.
Zha X; Department of Ophthalmology, The 2nd Affiliated Hospital of Kunming Medical University, Kunming, 650500, Yunnan, China. .
He Y; Department of Cell Biology and Medical Genetics, Faculty of Basic Medical Science, Kunming Medical University, Kunming, 650500, Yunnan, China. .
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Źródło:
Molecular genetics and genomics : MGG [Mol Genet Genomics] 2023 Sep; Vol. 298 (5), pp. 1237-1244. Date of Electronic Publication: 2023 Jul 12.
Typ publikacji:
Journal Article
MeSH Terms:
Cataract*/genetics
Cataract*/metabolism
Cataract*/pathology
Mutation, Missense*/genetics
beta-Crystallin A Chain*/genetics
Female ; Humans ; DNA Mutational Analysis ; East Asian People ; Family ; Mutation ; Pedigree ; Male ; Young Adult ; Adult
SCR Disease Name:
Cataract, Autosomal Dominant
Czasopismo naukowe
Szczegóły
Tytuł:
Genetic and clinical characteristics of ZNF408-related familial exudative vitreoretinopathy.
Autorzy:
Tao X; Department of Ophthalmology and Otorhinolaryngology, Chongqing Health Center for Women and Children, Women and Children's Hospital of Chongqing Medical University, Chongqing, China.
He L; Department of Ophthalmology and Otorhinolaryngology, Chongqing Health Center for Women and Children, Women and Children's Hospital of Chongqing Medical University, Chongqing, China.
Cen C; Department of Ophthalmology and Otorhinolaryngology, Chongqing Health Center for Women and Children, Women and Children's Hospital of Chongqing Medical University, Chongqing, China.
Liu Y; Department of Ophthalmology and Otorhinolaryngology, Chongqing Health Center for Women and Children, Women and Children's Hospital of Chongqing Medical University, Chongqing, China.
Li Q; Department of Ophthalmology and Otorhinolaryngology, Chongqing Health Center for Women and Children, Women and Children's Hospital of Chongqing Medical University, Chongqing, China.
Gong L; Department of Ophthalmology and Otorhinolaryngology, Chongqing Health Center for Women and Children, Women and Children's Hospital of Chongqing Medical University, Chongqing, China.
Zhou W; Department of Ophthalmology and Otorhinolaryngology, Chongqing Health Center for Women and Children, Women and Children's Hospital of Chongqing Medical University, Chongqing, China.
Li C; Department of Ophthalmology and Otorhinolaryngology, Chongqing Health Center for Women and Children, Women and Children's Hospital of Chongqing Medical University, Chongqing, China.
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Źródło:
The Journal of international medical research [J Int Med Res] 2023 Sep; Vol. 51 (9), pp. 3000605231194518.
Typ publikacji:
Journal Article
MeSH Terms:
DNA-Binding Proteins*/genetics
Familial Exudative Vitreoretinopathies*/genetics
Mutation, Missense*
Transcription Factors*/genetics
Humans ; Genotype ; Phenotype ; East Asian People
Czasopismo naukowe
Szczegóły
Tytuł:
Identification of the novel KIR3DL3*118 allele in a Chinese Han individual.
Autorzy:
Zhen J; Central Laboratory, Shenzhen Baoan Women's and Children's Hospital, Shenzhen, China.
Yang Z; Immunogenetics Laboratory, Shenzhen Blood Center, Shenzhen, China.
Chen H; Immunogenetics Laboratory, Shenzhen Blood Center, Shenzhen, China.
Deng Z; Department of Transfusion Medicine, School of Laboratory Medicine and Biotechnology, Southern Medical University, Guangzhou, China.
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Źródło:
HLA [HLA] 2023 Sep; Vol. 102 (3), pp. 399-400. Date of Electronic Publication: 2023 May 08.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Mutation, Missense*
Receptors, KIR*/genetics
Humans ; Alleles ; Base Sequence ; East Asian People/genetics
Czasopismo naukowe
Szczegóły
Tytuł:
APOGEE 2: multi-layer machine-learning model for the interpretable prediction of mitochondrial missense variants.
Autorzy:
Bianco SD; Bioinformatics Laboratory, Fondazione IRCCS Casa Sollievo della Sofferenza, S. Giovanni Rotondo (FG), Italy.; Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy.
Parca L; Bioinformatics Laboratory, Fondazione IRCCS Casa Sollievo della Sofferenza, S. Giovanni Rotondo (FG), Italy.; Italian Space Agency, Rome, Italy.
Petrizzelli F; Bioinformatics Laboratory, Fondazione IRCCS Casa Sollievo della Sofferenza, S. Giovanni Rotondo (FG), Italy.
Biagini T; Bioinformatics Laboratory, Fondazione IRCCS Casa Sollievo della Sofferenza, S. Giovanni Rotondo (FG), Italy.
Giovannetti A; Clinical Genomics Laboratory, Fondazione IRCCS Casa Sollievo della Sofferenza, S. Giovanni Rotondo (FG), Italy.
Liorni N; Bioinformatics Laboratory, Fondazione IRCCS Casa Sollievo della Sofferenza, S. Giovanni Rotondo (FG), Italy.; Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy.
Napoli A; Bioinformatics Laboratory, Fondazione IRCCS Casa Sollievo della Sofferenza, S. Giovanni Rotondo (FG), Italy.
Carella M; Medical Genetics Laboratory, Fondazione IRCCS Casa Sollievo della Sofferenza, S. Giovanni Rotondo, (FG), Italy.
Procaccio V; University of Angers, Genetics Department CHU Angers, Mitolab UMR CNRS 6015-INSERM U1083, F-49000, Angers, France.; Center for Mitochondrial and Epigenomic Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Lott MT; Center for Mitochondrial and Epigenomic Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Zhang S; Center for Mitochondrial and Epigenomic Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Biomedical and Health Informatics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Vescovi AL; ISBReMIT Institute for Stem Cell Biology, Regenerative Medicine and Innovative Therapies, Fondazione IRCSS Casa Sollievo della Sofferenza, S. Giovanni Rotondo (FG), Italy.
Wallace DC; Center for Mitochondrial and Epigenomic Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pediatrics, Division of Human Genetics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Caputo V; Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy.
Mazza T; Bioinformatics Laboratory, Fondazione IRCCS Casa Sollievo della Sofferenza, S. Giovanni Rotondo (FG), Italy. .
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Źródło:
Nature communications [Nat Commun] 2023 Aug 19; Vol. 14 (1), pp. 5058. Date of Electronic Publication: 2023 Aug 19.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural
MeSH Terms:
Mutation, Missense*
Amino Acids*
Humans ; Mutation ; Machine Learning ; Mitochondria/genetics
Czasopismo naukowe
Szczegóły
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
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