Informacja

Drogi użytkowniku, aplikacja do prawidłowego działania wymaga obsługi JavaScript. Proszę włącz obsługę JavaScript w Twojej przeglądarce.

Wyszukujesz frazę ""Mutation, Missense"" wg kryterium: Temat


Tytuł:
Identification of the pathogenic effects of missense variants causing PRKAG2 cardiomyopathy.
Autorzy:
Komurcu-Bayrak E; Istanbul University, Aziz Sancar Institute of Experimental Medicine, Department of Genetics, Istanbul, Turkiye; Istanbul University, Istanbul Faculty of Medicine, Departments of Medical Genetics, Istanbul, Turkiye. Electronic address: .
Kalkan MA; Istanbul University, Aziz Sancar Institute of Experimental Medicine, Department of Genetics, Istanbul, Turkiye; Istanbul University, Institute of Graduate Studies in Health Sciences, Istanbul, Turkiye. Electronic address: .
Coban N; Istanbul University, Aziz Sancar Institute of Experimental Medicine, Department of Genetics, Istanbul, Turkiye. Electronic address: .
Ozsait-Selcuk B; Istanbul University, Istanbul Faculty of Medicine, Departments of Medical Genetics, Istanbul, Turkiye. Electronic address: .
Bayrak F; Acibadem Altunizade Hospital, Department of Cardiology, Istanbul, Turkiye. Electronic address: .
Pokaż więcej
Źródło:
Archives of biochemistry and biophysics [Arch Biochem Biophys] 2022 Sep 30; Vol. 727, pp. 109340. Date of Electronic Publication: 2022 Jul 01.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
AMP-Activated Protein Kinases*/metabolism
Cardiomyopathies*/genetics
Mutation, Missense*
Glycogen/metabolism ; HEK293 Cells ; Humans ; Mutation ; Transcription Factors/genetics
Czasopismo naukowe
Tytuł:
PROST: AlphaFold2-aware Sequence-Based Predictor to Estimate Protein Stability Changes upon Missense Mutations.
Autorzy:
Iqbal S; Department of Data Science and AI, Faculty of IT, Monash University, Clayton, Victoria 3800, Australia.; Biomedicine Discovery Institute and Department of Biochemistry and Molecular Biology, Monash University, Clayton, Victoria 3800, Australia.; Monash Data Futures Institute, Monash University, Clayton, Victoria 3800, Australia.
Ge F; School of Computer Science and Engineering, Nanjing University of Science and Technology, Nanjing 210094, China.
Li F; Biomedicine Discovery Institute and Department of Biochemistry and Molecular Biology, Monash University, Clayton, Victoria 3800, Australia.; Monash Data Futures Institute, Monash University, Clayton, Victoria 3800, Australia.
Akutsu T; Bioinformatics Center, Institute for Chemical Research, Kyoto University, Kyoto 611-0011, Japan.
Zheng Y; Department of Veterinary Biosciences, Melbourne Veterinary School, The University of Melbourne, Parkville, Victoria 3010, Australia.
Gasser RB; Department of Veterinary Biosciences, Melbourne Veterinary School, The University of Melbourne, Parkville, Victoria 3010, Australia.
Yu DJ; School of Computer Science and Engineering, Nanjing University of Science and Technology, Nanjing 210094, China.
Webb GI; Department of Data Science and AI, Faculty of IT, Monash University, Clayton, Victoria 3800, Australia.; Monash Data Futures Institute, Monash University, Clayton, Victoria 3800, Australia.
Song J; Department of Data Science and AI, Faculty of IT, Monash University, Clayton, Victoria 3800, Australia.; Biomedicine Discovery Institute and Department of Biochemistry and Molecular Biology, Monash University, Clayton, Victoria 3800, Australia.; Monash Data Futures Institute, Monash University, Clayton, Victoria 3800, Australia.
Pokaż więcej
Źródło:
Journal of chemical information and modeling [J Chem Inf Model] 2022 Sep 12; Vol. 62 (17), pp. 4270-4282. Date of Electronic Publication: 2022 Aug 16.
Typ publikacji:
Journal Article
MeSH Terms:
Mutation, Missense*
Zygote Intrafallopian Transfer*
Protein Stability ; Proteins/chemistry ; Software
Czasopismo naukowe
Tytuł:
Identifying interpretable gene-biomarker associations with functionally informed kernel-based tests in 190,000 exomes.
Autorzy:
Monti R; Digital Health - Machine Learning, Hasso Plattner Institute, University of Potsdam, Digital Engineering Faculty, 14482, Potsdam, Germany.; Max-Delbrück-Center for Molecular Medicine in the Helmholtz Association (MDC), Berlin Institute for Medical Systems Biology (BIMSB), 13125, Berlin, Germany.
Rautenstrauch P; Max-Delbrück-Center for Molecular Medicine in the Helmholtz Association (MDC), Berlin Institute for Medical Systems Biology (BIMSB), 13125, Berlin, Germany.; Humboldt-Universität zu Berlin, Department of Computer Science, 10099, Berlin, Germany.
Ghanbari M; Max-Delbrück-Center for Molecular Medicine in the Helmholtz Association (MDC), Berlin Institute for Medical Systems Biology (BIMSB), 13125, Berlin, Germany.
James AR; Digital Health - Machine Learning, Hasso Plattner Institute, University of Potsdam, Digital Engineering Faculty, 14482, Potsdam, Germany.
Kirchler M; Digital Health - Machine Learning, Hasso Plattner Institute, University of Potsdam, Digital Engineering Faculty, 14482, Potsdam, Germany.; TU Kaiserslautern, Department of Computer Science, 67663, Kaiserslautern, Germany.
Ohler U; Max-Delbrück-Center for Molecular Medicine in the Helmholtz Association (MDC), Berlin Institute for Medical Systems Biology (BIMSB), 13125, Berlin, Germany.; Humboldt-Universität zu Berlin, Department of Biology, 10099, Berlin, Germany.
Konigorski S; Digital Health - Machine Learning, Hasso Plattner Institute, University of Potsdam, Digital Engineering Faculty, 14482, Potsdam, Germany.; Hasso Plattner Institute for Digital Health, Icahn School of Medicine at Mount Sinai, New York, 10029-6574, NY, USA.
Lippert C; Digital Health - Machine Learning, Hasso Plattner Institute, University of Potsdam, Digital Engineering Faculty, 14482, Potsdam, Germany. .; Hasso Plattner Institute for Digital Health, Icahn School of Medicine at Mount Sinai, New York, 10029-6574, NY, USA. .
Pokaż więcej
Źródło:
Nature communications [Nat Commun] 2022 Sep 10; Vol. 13 (1), pp. 5332. Date of Electronic Publication: 2022 Sep 10.
Typ publikacji:
Journal Article
MeSH Terms:
Exome*/genetics
Mutation, Missense*
Genetic Association Studies ; Genetic Markers ; Humans ; Ion Channels/genetics ; Whole Exome Sequencing
Czasopismo naukowe
Tytuł:
Novel missense variant of CIITA contributing to endometriosis.
Autorzy:
Zhu Y; Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, China.
Pan H; Center for Genetics, National Research Institute for Family Planning Beijing, China; Graduate School of Peking Union Medical College Beijing, China.
Han Y; Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, China.
Li T; Center for Genetics, National Research Institute for Family Planning Beijing, China.
Liu K; Department of Gynecological Oncology, Ren Ji Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai 200127, China. Electronic address: .
Wang B; Center for Genetics, National Research Institute for Family Planning Beijing, China; Graduate School of Peking Union Medical College Beijing, China. Electronic address: .
Pokaż więcej
Źródło:
Reproductive biomedicine online [Reprod Biomed Online] 2022 Sep; Vol. 45 (3), pp. 544-551. Date of Electronic Publication: 2022 May 21.
Typ publikacji:
Journal Article
MeSH Terms:
Endometriosis*/genetics
Mutation, Missense*
Nuclear Proteins*/genetics
Trans-Activators*/genetics
Asians ; Female ; Humans ; Pedigree ; Whole Exome Sequencing
Czasopismo naukowe
Tytuł:
Uncovering variable neoplasms between ATM protein-truncating and common missense variants using 394 694 UK Biobank exomes.
Autorzy:
Jiang X; Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK.
O'Neill A; Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK.
Smith KR; Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK.
Lai Z; Translational Medicine, Early Oncology R&D, AstraZeneca, Waltham, Massachusetts, USA.
Carss K; Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK.
Wang Q; Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Waltham, Massachusetts, USA.
Petrovski S; Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK.
Pokaż więcej
Źródło:
Genes, chromosomes & cancer [Genes Chromosomes Cancer] 2022 Sep; Vol. 61 (9), pp. 523-529. Date of Electronic Publication: 2022 Apr 16.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Ataxia Telangiectasia Mutated Proteins*/genetics
Breast Neoplasms*/genetics
Mutation, Missense*
Neoplasms*/genetics
Biological Specimen Banks ; Cell Cycle Proteins/genetics ; DNA-Binding Proteins/genetics ; Exome ; Female ; Genetic Predisposition to Disease ; Humans ; United Kingdom
Czasopismo naukowe
Tytuł:
Identification of a novel A allele with c.478C>T missense mutation on the ABO*A1.02 background.
Autorzy:
Deng D; Hwa Mei Hospital, University of Chinese Academy of Sciences, Ningbo, China.; Ningbo Institute of Life and Health Industry, University of Chinese Academy of Sciences, Ningbo, China.
Deng G; Ningbo Central Blood Station, Ningbo, China.
He Y; Ningbo Central Blood Station, Ningbo, China.
Yu Y; Hwa Mei Hospital, University of Chinese Academy of Sciences, Ningbo, China.; Ningbo Institute of Life and Health Industry, University of Chinese Academy of Sciences, Ningbo, China.
Pokaż więcej
Źródło:
Transfusion [Transfusion] 2022 Sep; Vol. 62 (9), pp. E47-E48. Date of Electronic Publication: 2022 Aug 02.
Typ publikacji:
Journal Article
MeSH Terms:
ABO Blood-Group System*/genetics
Mutation, Missense*
Alleles ; Exons ; Genotype ; Humans ; Mutation ; Phenotype
Czasopismo naukowe
Tytuł:
Circuit topology predicts pathogenicity of missense mutations.
Autorzy:
Woodard J; Medical Systems Biophysics and Bioengineering, Leiden Academic Centre for Drug Research, Faculty of Science, Leiden University, Leiden, The Netherlands.; Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, Michigan, USA.
Iqbal S; Center for the Development of Therapeutics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts, USA.
Mashaghi A; Medical Systems Biophysics and Bioengineering, Leiden Academic Centre for Drug Research, Faculty of Science, Leiden University, Leiden, The Netherlands.; Centre for Interdisciplinary Genome Research, Faculty of Science, Leiden University, Leiden, The Netherlands.
Pokaż więcej
Źródło:
Proteins [Proteins] 2022 Sep; Vol. 90 (9), pp. 1634-1644. Date of Electronic Publication: 2022 Apr 23.
Typ publikacji:
Journal Article
MeSH Terms:
Mutation, Missense*
Protein Folding*
Algorithms ; Humans ; Proteins/chemistry ; Virulence
Czasopismo naukowe
Tytuł:
Detrimental NFKB1 missense variants affecting the Rel-homology domain of p105/p50.
Autorzy:
Fliegauf M; Institute for Immunodeficiency (IFI), Center for Chronic Immunodeficiency (CCI), Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.; CIBSS - Centre for Integrative Biological Signalling Studies, Freiburg, Germany.
Kinnunen M; Institute of Biotechnology, University of Helsinki, Helsinki, Finland.
Posadas-Cantera S; Institute for Immunodeficiency (IFI), Center for Chronic Immunodeficiency (CCI), Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Camacho-Ordonez N; Institute for Immunodeficiency (IFI), Center for Chronic Immunodeficiency (CCI), Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.; Faculty of Biology, University of Freiburg, Freiburg, Germany.
Abolhassani H; Department of Biosciences and Nutrition, NEO, Karolinska Institutet, Huddinge, Sweden.; Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
Alsina L; Clinical Immunology and Primary Immunodeficiencies Unit, Pediatric Allergy and Clinical Immunology Department, Hospital Sant Joan de Déu, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Department of Surgery and Surgical Specializations, Facultat de Medicina i Ciències de la Salut, Barcelona, Spain.
Atschekzei F; RESIST - Cluster of Excellence 2155 to Hanover Medical School , Satellite Center Freiburg, Freiburg, Germany.; Department for Clinical Immunology and Rheumatology, Hannover Medical School, Hanover, Germany.
Bogaert DJ; Department of Pediatrics, Division of Pediatric Hemato-Oncology and Stem Cell Transplantation, Ghent University Hospital, Ghent, Belgium.; Primary Immunodeficiency Research Lab, Center for Primary Immunodeficiency Ghent, Jeffrey Modell Diagnosis and Research Center, Ghent University Hospital, Ghent, Belgium.
Burns SO; Department of Immunology, Royal Free London NHS Foundation Trust, London, United Kingdom.; Institute of Immunity and Transplantation, University College London, London, United Kingdom.
Church JA; Department of Pediatrics, Keck School of Medicine, University of Southern California and Children's Hospital Los Angeles, Los Angeles, CA, United States.
Dückers G; HELIOS Children's Hospital, Krefeld, Germany.
Freeman AF; Laboratory of Clinical Immunology and Microbiology, National Institutes of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, United States.
Hammarström L; Department of Biosciences and Nutrition, NEO, Karolinska Institutet, Huddinge, Sweden.
Hanitsch LG; Department of Medical Immunology, Charité - Universitätsmedizin Berlin, Berlin, Germany.
Kerre T; Department of Hematology, Ghent University Hospital, Ghent, Belgium.
Kobbe R; Institute for Infection Research and Vaccine Development (IIRVD), University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Sharapova SO; Research Department, Belarusian Research Center for Pediatric Oncology, Hematology and Immunology, Minsk, Belarus.
Siepermann K; HELIOS Children's Hospital, Krefeld, Germany.
Speckmann C; Institute for Immunodeficiency (IFI), Center for Chronic Immunodeficiency (CCI), Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.; Center for Pediatrics and Adolescent Medicine, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Steiner S; Department of Medical Immunology, Charité - Universitätsmedizin Berlin, Berlin, Germany.
Verma N; Department of Immunology, Royal Free London NHS Foundation Trust, London, United Kingdom.
Walter JE; Division of Allergy and Immunology, Department of Pediatrics, Morsani College of Medicine, University of South Florida, Tampa, FL, United States.; Division of Allergy/Immunology, Department of Pediatrics Johns Hopkins All Children's Hospital, St. Petersburg, FL, United States.; Division of Allergy and Immunology, Massachusetts General Hospital for Children, Boston, MA, United States.
Westermann-Clark E; Division of Allergy and Immunology, Department of Pediatrics, Morsani College of Medicine, University of South Florida, Tampa, FL, United States.; Division of Allergy and Immunology, Department of Medicine, Morsani College of Medicine, University of South Florida, Tampa, FL, United States.
Goldacker S; Center for Chronic Immunodeficiency (CCI), Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.; Department of Rheumatology and Clinical Immunology, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Warnatz K; Center for Chronic Immunodeficiency (CCI), Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.; Department of Rheumatology and Clinical Immunology, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Varjosalo M; Institute of Biotechnology, University of Helsinki, Helsinki, Finland.; Helsinki Institute of Life Science, University of Helsinki, Helsinki, Finland.; Proteomics Unit, University of Helsinki, Helsinki, Finland.
Grimbacher B; Institute for Immunodeficiency (IFI), Center for Chronic Immunodeficiency (CCI), Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.; CIBSS - Centre for Integrative Biological Signalling Studies, Freiburg, Germany.; RESIST - Cluster of Excellence 2155 to Hanover Medical School , Satellite Center Freiburg, Freiburg, Germany.; DZIF - German Center for Infection Research, Satellite Center Freiburg, Freiburg, Germany.
Pokaż więcej
Źródło:
Frontiers in immunology [Front Immunol] 2022 Aug 29; Vol. 13, pp. 965326. Date of Electronic Publication: 2022 Aug 29 (Print Publication: 2022).
Typ publikacji:
Journal Article
MeSH Terms:
Mutation, Missense*
NF-kappa B*/metabolism
DNA ; HEK293 Cells ; Humans ; NF-kappa B p50 Subunit/genetics ; NF-kappa B p50 Subunit/metabolism ; Promoter Regions, Genetic ; Proto-Oncogene Proteins c-rel/metabolism
Czasopismo naukowe
Tytuł:
Distribution of a missense mutation (rs525805167) within the SLC45A2 gene associated with climatic conditions in Chinese cattle.
Autorzy:
Ding C; Key Laboratory of Animal Genetics, Breeding and Reproduction of Shaanxi Province, College of Animal Science and Technology, Northwest A&F University, Yangling, China.
Ma J; Key Laboratory of Animal Genetics, Breeding and Reproduction of Shaanxi Province, College of Animal Science and Technology, Northwest A&F University, Yangling, China.
Yan H; Key Laboratory of Animal Genetics, Breeding and Reproduction of Shaanxi Province, College of Animal Science and Technology, Northwest A&F University, Yangling, China.
Meng Y; Key Laboratory of Animal Genetics, Breeding and Reproduction of Shaanxi Province, College of Animal Science and Technology, Northwest A&F University, Yangling, China.
Qi X; Bureau of Animal Husbandry of Biyang County, Biyang, China.
Qu K; Academy of Science and Technology, Chuxiong Normal University, Chuxiong, Yunnan 675000, China.
Li F; Hunan Tianhua Industrial Corporation Ltd., Lianyuan, China.
Zhang J; Yunnan Academy of Grassland and Animal Science, Kunming, China.
Zhuzha B; Institute of Animal Husbandry and Veterinary Science, Tibet Academy of Agricultural and Animal Husbandry Sciences, Lhasa, China.
Quji S; Institute of Animal Husbandry and Veterinary Science, Tibet Academy of Agricultural and Animal Husbandry Sciences, Lhasa, China.
Chen N; Key Laboratory of Animal Genetics, Breeding and Reproduction of Shaanxi Province, College of Animal Science and Technology, Northwest A&F University, Yangling, China.
Huang B; Yunnan Academy of Grassland and Animal Science, Kunming, China. Electronic address: .
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. Electronic address: .
Pokaż więcej
Źródło:
Gene [Gene] 2022 Aug 15; Vol. 835, pp. 146643. Date of Electronic Publication: 2022 Jun 13.
Typ publikacji:
Journal Article
MeSH Terms:
Melanins*
Mutation, Missense*
Animals ; Cattle/genetics ; Gene Frequency ; Genotype ; Plant Breeding ; Polymorphism, Single Nucleotide
Czasopismo naukowe
Tytuł:
Prediction of the Effects of Missense Mutations on Human Myeloperoxidase Protein Stability Using In Silico Saturation Mutagenesis.
Autorzy:
Sobitan A; Department of Biology, Howard University, Washington, DC 20059, USA.
Edwards W; Department of Biology, Howard University, Washington, DC 20059, USA.
Jalal MS; Department of Biology, Howard University, Washington, DC 20059, USA.
Kolawole A; Department of Biology, Howard University, Washington, DC 20059, USA.
Ullah H; Department of Biology, Howard University, Washington, DC 20059, USA.
Duttaroy A; Department of Biology, Howard University, Washington, DC 20059, USA.
Li J; Department of Electrical Engineering and Computer Science, Howard University, Washington, DC 20059, USA.
Teng S; Department of Biology, Howard University, Washington, DC 20059, USA.
Pokaż więcej
Źródło:
Genes [Genes (Basel)] 2022 Aug 08; Vol. 13 (8). Date of Electronic Publication: 2022 Aug 08.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.
MeSH Terms:
Mutation, Missense*
Peroxidase/*genetics
Humans ; Mutagenesis ; Neutrophils/metabolism ; Peroxidase/metabolism ; Protein Stability
Czasopismo naukowe
Tytuł:
Further evidence for distinct traits associated with RBM10 missense variants.
Autorzy:
Poulton C; Western Australian Register of Developmental Anomalies, Perth, Australia.; Genetic Services of WA, Government of Western Australia, Perth, Australia.
Baynam G; Western Australian Register of Developmental Anomalies, Perth, Australia.; Genetic Services of WA, Government of Western Australia, Perth, Australia.; Faculty of Health and Medicine, University of Western Australia, Perth, Australia.; Telethon Kids Institute, Perth, Australia.; Faculty of Medicine, University of Notre Dame, Fremantle, Australia.; Faculty of Science and Engineering, Curtin University, Perth, Australia.
Pugh K; Curtin Medical School, Curtin University, Bentley, Australia.
Mason M; Perth Children's Hospital, Perth, Western Australia.
Kiraly-Borri C; Genetic Services of WA, Government of Western Australia, Perth, Australia.
Gration D; Genetic Services of WA, Government of Western Australia, Perth, Australia.
Dreyer L; Genetic Services of WA, Government of Western Australia, Perth, Australia.
Viti L; Curtin Medical School, Curtin University, Bentley, Australia.
Agostino M; Curtin Medical School, Curtin University, Bentley, Australia.; Curtin Institute for Computation, Bentley, Australia.
Heng JI; Curtin Medical School, Curtin University, Bentley, Australia.
Pokaż więcej
Źródło:
Clinical genetics [Clin Genet] 2022 Aug; Vol. 102 (2), pp. 161-163. Date of Electronic Publication: 2022 May 29.
Typ publikacji:
Case Reports; Letter; Research Support, Non-U.S. Gov't; Comment
MeSH Terms:
Intellectual Disability*
Mutation, Missense*/genetics
Adult ; Humans ; Phenotype ; RNA-Binding Proteins/genetics
Raport
Tytuł:
A de novo missense mutation in KIT is responsible for dominant white spotting phenotype in a Standardbred horse.
Autorzy:
Esdaile E; Veterinary Genetics Laboratory, School of Veterinary Medicine, University of California-Davis, Davis, California, USA.
Till B; Veterinary Genetics Laboratory, School of Veterinary Medicine, University of California-Davis, Davis, California, USA.
Kallenberg A; Veterinary Genetics Laboratory, School of Veterinary Medicine, University of California-Davis, Davis, California, USA.
Fremeux M; InfogeneNZ, Institute of Veterinary, Animal and Biomedical Sciences, Massey University, Palmerston North, New Zealand.
Bickel L; Veterinary Genetics Laboratory, School of Veterinary Medicine, University of California-Davis, Davis, California, USA.
Bellone RR; Veterinary Genetics Laboratory, School of Veterinary Medicine, University of California-Davis, Davis, California, USA.; Department of Population Health and Reproduction, School of Veterinary Medicine, University of California-Davis, Davis, California, USA.
Pokaż więcej
Źródło:
Animal genetics [Anim Genet] 2022 Aug; Vol. 53 (4), pp. 534-537. Date of Electronic Publication: 2022 May 31.
Typ publikacji:
Journal Article
MeSH Terms:
Hair Color*
Mutation, Missense*
Animals ; Horses/genetics ; Mutation ; Phenotype ; Proto-Oncogene Proteins c-kit/genetics
Czasopismo naukowe
Tytuł:
Genotypic and phenotypic spectrum of Myofibrillar Myopathy 7 as a result of Kyphoscoliosis Peptidase deficiency: The first description of a missense mutation in KY and literature review.
Autorzy:
Ehsani E; Comprehensive Medical Genetic Center, Shiraz University of Medical Sciences, Shiraz, Iran.
Khamirani HJ; Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran; Student Research Committee, Shiraz University of Medical Sciences, Shiraz, Iran.
Abbasi Z; Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran.
Gohari M; Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran; Student Research Committee, Shiraz University of Medical Sciences, Shiraz, Iran.
Zoghi S; Student Research Committee, Shiraz University of Medical Sciences, Shiraz, Iran.
Mohammadi S; Comprehensive Medical Genetic Center, Shiraz University of Medical Sciences, Shiraz, Iran.
Dianatpour M; Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran; Stem Cells Technology Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.
Tabei SMB; Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran; Maternal-fetal Medicine Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.
Mohamadjani O; Student Research Committee, Shiraz University of Medical Sciences, Shiraz, Iran.
Dastgheib SA; Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran. Electronic address: .
Pokaż więcej
Źródło:
European journal of medical genetics [Eur J Med Genet] 2022 Aug; Vol. 65 (8), pp. 104552. Date of Electronic Publication: 2022 Jun 22.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Mutation, Missense*
Spastic Paraplegia, Hereditary*
Homozygote ; Humans ; Iran ; Muscle Weakness ; Muscle, Skeletal/metabolism ; Mutation ; Myopathies, Structural, Congenital ; Pedigree ; Peptide Hydrolases/genetics ; Phenotype
SCR Disease Name:
Myofibrillar Myopathy
Czasopismo naukowe
Tytuł:
A disease-associated missense mutation in CYP4F3 affects the metabolism of leukotriene B4 via disruption of electron transfer.
Autorzy:
Smeets E; Department of Cellular and Molecular Medicine, Molecular Endocrinology Laboratory, KU Leuven, Leuven, Belgium.
Huang S; Department of Pharmaceutical and Pharmacological Sciences, Pharmaceutical Analysis Laboratory, KU Leuven, Leuven, Belgium.
Lee XY; Department of Cellular and Molecular Medicine, Molecular Endocrinology Laboratory, KU Leuven, Leuven, Belgium.
Van Nieuwenhove E; Department of Microbiology, Immunology and Transplantation, Laboratory of Adaptive Immunity, KU Leuven, Leuven, Belgium.; Department of Pediatrics, University Hospitals Leuven, Leuven, Belgium.
Helsen C; Department of Cellular and Molecular Medicine, Molecular Endocrinology Laboratory, KU Leuven, Leuven, Belgium.
Handle F; Department of Cellular and Molecular Medicine, Molecular Endocrinology Laboratory, KU Leuven, Leuven, Belgium.
Moris L; Department of Cellular and Molecular Medicine, Molecular Endocrinology Laboratory, KU Leuven, Leuven, Belgium.
El Kharraz S; Department of Cellular and Molecular Medicine, Molecular Endocrinology Laboratory, KU Leuven, Leuven, Belgium.
Eerlings R; Department of Cellular and Molecular Medicine, Molecular Endocrinology Laboratory, KU Leuven, Leuven, Belgium.
Devlies W; Department of Cellular and Molecular Medicine, Molecular Endocrinology Laboratory, KU Leuven, Leuven, Belgium.
Willemsen M; Department of Microbiology, Immunology and Transplantation, Laboratory of Adaptive Immunity, KU Leuven, Leuven, Belgium.
Bücken L; Department of Microbiology, Immunology and Transplantation, Laboratory of Adaptive Immunity, KU Leuven, Leuven, Belgium.
Prezzemolo T; Department of Microbiology, Immunology and Transplantation, Laboratory of Adaptive Immunity, KU Leuven, Leuven, Belgium.
Humblet-Baron S; Department of Microbiology, Immunology and Transplantation, Laboratory of Adaptive Immunity, KU Leuven, Leuven, Belgium.
Voet A; Department of Chemistry, Biochemistry, Molecular and Structural Biology Section Laboratory, KU Leuven, Leuven, Belgium.
Rochtus A; Department of Pediatrics, University Hospitals Leuven, Leuven, Belgium.
Van Schepdael A; Department of Pharmaceutical and Pharmacological Sciences, Pharmaceutical Analysis Laboratory, KU Leuven, Leuven, Belgium.
de Zegher F; Department of Pediatrics, University Hospitals Leuven, Leuven, Belgium.
Claessens F; Department of Cellular and Molecular Medicine, Molecular Endocrinology Laboratory, KU Leuven, Leuven, Belgium.
Pokaż więcej
Źródło:
Journal of cachexia, sarcopenia and muscle [J Cachexia Sarcopenia Muscle] 2022 Aug; Vol. 13 (4), pp. 2242-2253. Date of Electronic Publication: 2022 Jun 09.
Typ publikacji:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Leukotriene B4*/metabolism
Mutation, Missense*
Cytochrome P-450 Enzyme System/genetics ; Cytochrome P-450 Enzyme System/metabolism ; Cytochrome P450 Family 4/genetics ; Electrons ; Female ; Humans
Czasopismo naukowe
Tytuł:
Shadow coat colour in American mink associated with a missense mutation in the KIT gene.
Autorzy:
Manakhov AD; Centre for Genetics and Life Science, Sirius University of Science and Technology, Sochi, Russia.; Laboratory of Evolutionary Genomics, Department of Genomics and Human Genetics, Vavilov Institute of General Genetics, Russian Academy of Sciences, Moscow, Russia.; Centre for Genetics and Genetic Technologies, Faculty of Biology, Lomonosov Moscow State University, Moscow, Russia.
Mintseva MY; Laboratory of Evolutionary Genomics, Department of Genomics and Human Genetics, Vavilov Institute of General Genetics, Russian Academy of Sciences, Moscow, Russia.
Andreeva TV; Laboratory of Evolutionary Genomics, Department of Genomics and Human Genetics, Vavilov Institute of General Genetics, Russian Academy of Sciences, Moscow, Russia.; Centre for Genetics and Genetic Technologies, Faculty of Biology, Lomonosov Moscow State University, Moscow, Russia.
Trapezov OV; Department of Animals and Human Genetics, Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, Novosibirsk, Russia.; Novosibirsk State University, Novosibirsk, Russia.
Rogaev EI; Centre for Genetics and Life Science, Sirius University of Science and Technology, Sochi, Russia.; Laboratory of Evolutionary Genomics, Department of Genomics and Human Genetics, Vavilov Institute of General Genetics, Russian Academy of Sciences, Moscow, Russia.; Centre for Genetics and Genetic Technologies, Faculty of Biology, Lomonosov Moscow State University, Moscow, Russia.; Department of Psychiatry, UMass Chan Medical School, Worcester, Massachusetts, USA.
Pokaż więcej
Źródło:
Animal genetics [Anim Genet] 2022 Aug; Vol. 53 (4), pp. 522-525. Date of Electronic Publication: 2022 Apr 28.
Typ publikacji:
Journal Article
MeSH Terms:
Mink*/genetics
Mutation, Missense*
Animals ; Color ; Hair Color/genetics ; Mutation ; Phenotype
Czasopismo naukowe
Tytuł:
Combined in Silico Prediction Methods, Molecular Dynamic Simulation, and Molecular Docking of FOXG1 Missense Mutations: Effect on FoxG1 Structure and Its Interactions with DNA and Bmi-1 Protein.
Autorzy:
Kharrat M; Laboratory of Molecular and Functional Genetics, Faculty of Science, Sfax University, Sfax, Tunisia. .
Triki CC; Child Neurology Department, Hedi Chaker Hospital, Sfax, Tunisia.; Research Laboratory (LR19ES15), Sfax Medical School, Sfax University, Sfax, Tunisia.
Alila-Fersi O; Laboratory of Molecular and Functional Genetics, Faculty of Science, Sfax University, Sfax, Tunisia.
Jallouli O; Child Neurology Department, Hedi Chaker Hospital, Sfax, Tunisia.; Research Laboratory (LR19ES15), Sfax Medical School, Sfax University, Sfax, Tunisia.
Khemakham B; Laboratory of Plant Biotechnology, Faculty of Sciences of Sfax, Sfax University, Sfax, Tunisia.
Mallouli S; Child Neurology Department, Hedi Chaker Hospital, Sfax, Tunisia.; Research Laboratory (LR19ES15), Sfax Medical School, Sfax University, Sfax, Tunisia.
Maalej M; Laboratory of Molecular and Functional Genetics, Faculty of Science, Sfax University, Sfax, Tunisia.
Ammar M; Laboratory of Molecular and Functional Genetics, Faculty of Science, Sfax University, Sfax, Tunisia.
Frikha F; Laboratory of Molecular and Cellular Screening Processes, Center of Biotechnology of Sfax, University of Sfax, Sfax, Tunisia.
Kamoun F; Child Neurology Department, Hedi Chaker Hospital, Sfax, Tunisia.; Research Laboratory (LR19ES15), Sfax Medical School, Sfax University, Sfax, Tunisia.
Fakhfakh F; Laboratory of Molecular and Functional Genetics, Faculty of Science, Sfax University, Sfax, Tunisia. .
Pokaż więcej
Źródło:
Journal of molecular neuroscience : MN [J Mol Neurosci] 2022 Aug; Vol. 72 (8), pp. 1695-1705. Date of Electronic Publication: 2022 Jun 02.
Typ publikacji:
Journal Article
MeSH Terms:
Molecular Dynamics Simulation*
Mutation, Missense*
DNA ; Forkhead Transcription Factors/genetics ; Forkhead Transcription Factors/metabolism ; Molecular Docking Simulation ; Mutation ; Nerve Tissue Proteins/metabolism
Czasopismo naukowe
Tytuł:
Is a heterozygous missense variant in SGSH the cause of a syndromic form of congenital amastia in an Original Braunvieh calf?
Autorzy:
Jacinto JGP; Department of Veterinary Medical Sciences, University of Bologna, Ozzano Emilia (Bologna), Italy.; Vetsuisse Faculty, Institute of Genetics, University of Bern, Bern, Switzerland.
Häfliger IM; Vetsuisse Faculty, Institute of Genetics, University of Bern, Bern, Switzerland.
Christen M; Vetsuisse Faculty, Institute of Genetics, University of Bern, Bern, Switzerland.
Paris JM; Vetsuisse Faculty, Institute of Genetics, University of Bern, Bern, Switzerland.
Seefried FR; Qualitas AG, Zug, Switzerland.
Drögemüller C; Vetsuisse Faculty, Institute of Genetics, University of Bern, Bern, Switzerland.
Pokaż więcej
Źródło:
Animal genetics [Anim Genet] 2022 Aug; Vol. 53 (4), pp. 530-531. Date of Electronic Publication: 2022 May 09.
Typ publikacji:
Journal Article
MeSH Terms:
Breast Diseases*/veterinary
Mutation, Missense*
Animals ; Cattle ; Heterozygote
SCR Disease Name:
Amastia
Czasopismo naukowe
Tytuł:
The distribution of four missense mutations in SPTBN5 gene across native Chinese breeds.
Autorzy:
Zhou H; College of Veterinary Medicine, Northwest A&F University, Yangling, Shaanxi, China.
Huang B; Yunnan Academy of Grassland Animal Science, Kunming, China.
Qu K; Yunnan Academy of Grassland Animal Science, Kunming, China.
Liu J; Yunnan Academy of Grassland Animal Science, Kunming, China.
Zhang J; Yunnan Academy of Grassland Animal Science, Kunming, China.
Lei C; College of Animal Science and Technology, Northwest A&F University, Yangling, China.
Pokaż więcej
Źródło:
Animal biotechnology [Anim Biotechnol] 2022 Aug; Vol. 33 (4), pp. 796-800. Date of Electronic Publication: 2020 Oct 16.
Typ publikacji:
Journal Article
MeSH Terms:
Cattle*/genetics
Mutation, Missense*
Polymorphism, Single Nucleotide*
Alleles ; Animals ; Gene Frequency
Czasopismo naukowe
Tytuł:
Predicting potentially pathogenic effects of h RPE65 missense mutations: a computational strategy based on molecular dynamics simulations.
Autorzy:
Poli G; Department of Pharmacy, University of Pisa, Pisa, Italy.
Barravecchia I; Department of Pharmacy, University of Pisa, Pisa, Italy.; Institute of Life Sciences, Scuola Superiore Sant'Anna, Pisa, Italy.
Demontis GC; Department of Pharmacy, University of Pisa, Pisa, Italy.
Sodi A; Department of Neurosciences, Psychology, Drug Research and Child Health Eye Clinic, University of Florence, AOU Careggi, Florence, Italy.
Saba A; Department of Surgical Pathology, Molecular Medicine and of the Critical Area, University of Pisa, Pisa, Italy.
Rizzo S; Ophthalmology Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.; Catholic University Sacro Cuore, Rome, Italy.; Consiglio Nazionale delle Ricerche, Istituto di Neuroscienze, Pisa, Italy.
Macchia M; Department of Pharmacy, University of Pisa, Pisa, Italy.
Tuccinardi T; Department of Pharmacy, University of Pisa, Pisa, Italy.
Pokaż więcej
Źródło:
Journal of enzyme inhibition and medicinal chemistry [J Enzyme Inhib Med Chem] 2022 Dec; Vol. 37 (1), pp. 1765-1772.
Typ publikacji:
Journal Article
MeSH Terms:
Mutation, Missense*
Retinitis Pigmentosa*/genetics
cis-trans-Isomerases*/genetics
Humans ; Molecular Dynamics Simulation
Czasopismo naukowe
Tytuł:
Identification of a novel missense mutation in non-syndromic familial multiple supernumerary teeth.
Autorzy:
Hua W; State Key Laboratory of Oral Diseases, National Clinical Research Center for Oral Diseases, Department of Orthodontics, West China Hospital of Stomatology, Sichuan University, Chengdu, China.
Gan Z; State Key Laboratory of Oral Diseases, National Clinical Research Center for Oral Diseases, Department of Orthodontics, West China Hospital of Stomatology, Sichuan University, Chengdu, China; Hospital of Stomatology, Guanghua School of Stomatology, Sun Yat-sen University, Guangdong Provincial Key Laboratory of Stomatology, Guangzhou, China.
Wu Y; Department of Stomatology, Hospital of Chengdu University of Traditional Chinese Medicine, Chengdu, China. Electronic address: .
Zhao L; State Key Laboratory of Oral Diseases, National Clinical Research Center for Oral Diseases, Department of Orthodontics, West China Hospital of Stomatology, Sichuan University, Chengdu, China. Electronic address: .
Pokaż więcej
Źródło:
Archives of oral biology [Arch Oral Biol] 2022 Nov; Vol. 143, pp. 105542. Date of Electronic Publication: 2022 Sep 09.
Typ publikacji:
Journal Article
MeSH Terms:
Mutation, Missense*
Tooth, Supernumerary*/genetics
Adenine ; Guanine ; Humans ; Mutation ; Polymorphism, Single Nucleotide ; Protein Kinase C
Czasopismo naukowe

Ta witryna wykorzystuje pliki cookies do przechowywania informacji na Twoim komputerze. Pliki cookies stosujemy w celu świadczenia usług na najwyższym poziomie, w tym w sposób dostosowany do indywidualnych potrzeb. Korzystanie z witryny bez zmiany ustawień dotyczących cookies oznacza, że będą one zamieszczane w Twoim komputerze. W każdym momencie możesz dokonać zmiany ustawień dotyczących cookies

Prześlij opinię

Twoje opinie są dla nas bardzo ważne i mogą być niezwykle pomocne w pokazaniu nam, gdzie możemy dokonać ulepszeń. Bylibyśmy bardzo wdzięczni za poświęcenie kilku chwil na wypełnienie krótkiego formularza.

Formularz