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Tytuł:
De novo mutations disturb early brain development more frequently than common variants in schizophrenia.
Autorzy:
Itai T; Center for Precision Health, School of Biomedical Informatics, The University of Texas Health Science Center at Houston, Houston, Texas, USA.
Jia P; Center for Precision Health, School of Biomedical Informatics, The University of Texas Health Science Center at Houston, Houston, Texas, USA.
Dai Y; Center for Precision Health, School of Biomedical Informatics, The University of Texas Health Science Center at Houston, Houston, Texas, USA.
Chen J; Nevada Institute of Personalized Medicine, University of Nevada Las Vegas, Las Vegas, Nevada, USA.
Chen X; Center for Precision Health, School of Biomedical Informatics, The University of Texas Health Science Center at Houston, Houston, Texas, USA.
Zhao Z; Center for Precision Health, School of Biomedical Informatics, The University of Texas Health Science Center at Houston, Houston, Texas, USA.; Human Genetics Center, School of Public Health, The University of Texas Health Science Center at Houston, Houston, Texas, USA.; Faillace Department of Psychiatry and Behavioral Sciences, McGovern Medical School, The University of Texas Health Science Center at Houston, Houston, Texas, USA.
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Źródło:
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics [Am J Med Genet B Neuropsychiatr Genet] 2023 Apr; Vol. 192 (3-4), pp. 62-70. Date of Electronic Publication: 2023 Mar 02.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms:
Schizophrenia*/genetics
Schizophrenia*/pathology
Schizophrenia*/physiopathology
Mutation*
Brain*/cytology
Brain*/embryology
Brain*/growth & development
Brain*/pathology
Animals ; Mice ; Fetus/cytology ; Fetus/embryology ; Neurons/metabolism ; Loss of Function Mutation ; Mutation, Missense ; Humans ; Organ Specificity
Czasopismo naukowe
Szczegóły
Tytuł:
The diverse effects of pathogenic point mutations on ion channel activity of a gain-of-function polycystin-2.
Autorzy:
Wang Y; Department of Biological Sciences, St. John's University, Queens, New York, USA.
Wang Z; Department of Biological Sciences, St. John's University, Queens, New York, USA.
Pavel MA; Department of Biological Sciences, St. John's University, Queens, New York, USA.
Ng C; Department of Biological Sciences, St. John's University, Queens, New York, USA.
Kashyap P; Department of Biological Sciences, St. John's University, Queens, New York, USA.
Li B; Department of Biological Sciences, St. John's University, Queens, New York, USA.
Morais TDC; Department of Biological Sciences, St. John's University, Queens, New York, USA.
Ulloa GA; Department of Biological Sciences, St. John's University, Queens, New York, USA.
Yu Y; Department of Biological Sciences, St. John's University, Queens, New York, USA. Electronic address: .
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Źródło:
The Journal of biological chemistry [J Biol Chem] 2023 May; Vol. 299 (5), pp. 104674. Date of Electronic Publication: 2023 Apr 05.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms:
Point Mutation*
Polycystic Kidney, Autosomal Dominant*/metabolism
Humans ; TRPP Cation Channels/genetics ; TRPP Cation Channels/metabolism ; Gain of Function Mutation ; Mutation ; Ion Channels/metabolism
Czasopismo naukowe
Szczegóły
Tytuł:
The genetic determinants of recurrent somatic mutations in 43,693 blood genomes.
Autorzy:
Weinstock JS; Center for Statistical Genetics, Department of Biostatistics, University of Michigan School of Public Health, Ann Arbor, MI 48109, USA.
Laurie CA; Department of Biostatistics, University of Washington, Seattle, WA 98195, USA.
Broome JG; Department of Biostatistics, University of Washington, Seattle, WA 98195, USA.; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA.
Taylor KD; The Institute for Translational Genomics and Population Sciences, Department of Pediatrics, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA 90502, USA.
Guo X; The Institute for Translational Genomics and Population Sciences, Department of Pediatrics, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA 90502, USA.
Shuldiner AR; Department of Medicine, University of Maryland, Baltimore, Baltimore, MD 21201, USA.
O'Connell JR; Department of Medicine, University of Maryland, Baltimore, Baltimore, MD 21201, USA.
Lewis JP; Department of Medicine, University of Maryland, Baltimore, Baltimore, MD 21201, USA.
Boerwinkle E; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
Barnes KC; Division of Biomedical Informatics and Personalized Medicine, Department of Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.
Chami N; The Charles Bronfman Institute of Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.; The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
Kenny EE; Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
Loos RJF; The Charles Bronfman Institute of Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.; The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
Fornage M; Brown Foundation Institute of Molecular Medicine, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, TX 77030, USA.
Redline S; Department of Medicine, Brigham and Women's Hospital, Boston, MA 02115, USA.; Harvard Medical School, Boston, MA 02115, USA.
Cade BE; Department of Medicine, Brigham and Women's Hospital, Boston, MA 02115, USA.; Harvard Medical School, Boston, MA 02115, USA.; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA.
Gilliland FD; Department of Preventive Medicine, University of Southern California, Los Angeles, CA 90089, USA.
Chen Z; Department of Preventive Medicine, University of Southern California, Los Angeles, CA 90089, USA.
Gauderman WJ; Department of Preventive Medicine, University of Southern California, Los Angeles, CA 90089, USA.
Kumar R; Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA.; Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA.
Grammer L; Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA.
Schleimer RP; Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA.
Psaty BM; Cardiovascular Health Research Unit, Department of Medicine, University of Washington, Seattle, WA 98195, USA.; Department of Epidemiology, University of Washington, Seattle, WA 98195, USA.; Department of Medicine, University of Washington, Seattle, WA 98195, USA.
Bis JC; Cardiovascular Health Research Unit, Department of Medicine, University of Washington, Seattle, WA 98195, USA.
Brody JA; Cardiovascular Health Research Unit, Department of Medicine, University of Washington, Seattle, WA 98195, USA.
Silverman EK; Channing Division of Network Medicine, Brigham and Women's Hospital, Boston, MA 02115, USA.
Yun JH; Channing Division of Network Medicine, Brigham and Women's Hospital, Boston, MA 02115, USA.
Qiao D; Channing Division of Network Medicine, Brigham and Women's Hospital, Boston, MA 02115, USA.
Weiss ST; Department of Medicine, Brigham and Women's Hospital, Boston, MA 02115, USA.; Channing Division of Network Medicine, Brigham and Women's Hospital, Boston, MA 02115, USA.
Lasky-Su J; Department of Medicine, Brigham and Women's Hospital, Boston, MA 02115, USA.; Channing Division of Network Medicine, Brigham and Women's Hospital, Boston, MA 02115, USA.
DeMeo DL; Department of Medicine, Brigham and Women's Hospital, Boston, MA 02115, USA.; Channing Division of Network Medicine, Brigham and Women's Hospital, Boston, MA 02115, USA.
Palmer ND; Department of Biochemistry, Wake Forest School of Medicine, Winston-Salem, NC 27101, USA.
Freedman BI; Department of Internal Medicine, Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, NC 27101, USA.
Bowden DW; Department of Biochemistry, Wake Forest School of Medicine, Winston-Salem, NC 27101, USA.
Cho MH; Channing Division of Network Medicine and Division of Pulmonary and Critical Care Medicine, Brigham and Women's Hospital, Boston, MA 02115, USA.
Vasan RS; National Heart, Lung, and Blood Institute's, Boston University's Framingham Heart Study, Framingham, MA 01701, USA.
Johnson AD; National Heart, Lung, and Blood Institute's, Boston University's Framingham Heart Study, Framingham, MA 01701, USA.; National Heart, Lung and Blood Institute, Population Sciences Branch, Framingham, MA 01701, USA.
Yanek LR; Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
Becker LC; Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
Kardia S; Department of Epidemiology, School of Public Health, University of Michigan, Ann Arbor, MI 48109, USA.
He J; Department of Epidemiology, Tulane University School of Public Health and Tropical Medicine, New Orleans, LA 70112, USA.
Kaplan R; Department of Epidemiology and Population Health, Albert Einstein College of Medicine, Bronx, NY 10461, USA.
Heckbert SR; Department of Epidemiology, University of Washington, Seattle, WA 98195, USA.; Kaiser Permanente Washington Health Research Institute, Kaiser Permanente Washington, Seattle, WA 98101, USA.
Smith NL; Department of Epidemiology, University of Washington, Seattle, WA 98195, USA.; Kaiser Permanente Washington Health Research Institute, Kaiser Permanente Washington, Seattle, WA 98101, USA.; Seattle Epidemiologic Research and Information Center, Department of Veterans Affairs Office of Research and Development, Seattle, WA 98108, USA.
Wiggins KL; Cardiovascular Health Research Unit, Department of Medicine, University of Washington, Seattle, WA 98101, USA.
Arnett DK; Dean's Office, College of Public Health, University of Kentucky, Lexington, KY 40506, USA.
Irvin MR; University of Alabama at Birmingham, Birmingham, AL 35294, USA.
Tiwari H; University of Alabama at Birmingham, Birmingham, AL 35294, USA.
Correa A; Department of Medicine, Jackson Heart Study, University of Mississippi Medical Center, Jackson, MS 39216, USA.
Raffield LM; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
Gao Y; Department of Medicine, University of Mississippi Medical Center, Jackson, MS 39216, USA.
de Andrade M; Department of Health Sciences Research, Mayo Clinic, Rochester, MN 55905, USA.
Rotter JI; The Institute for Translational Genomics and Population Sciences, Department of Pediatrics, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA 90502, USA.
Rich SS; Department of Public Health Sciences, Center for Public Health Genomics, University of Virginia, Charlottesville, VA 22903, USA.
Manichaikul AW; Department of Public Health Sciences, Center for Public Health Genomics, University of Virginia, Charlottesville, VA 22903, USA.
Konkle BA; Department of Medicine, University of Washington, Seattle, WA 98195, USA.
Johnsen JM; Department of Medicine, University of Washington, Seattle, WA 98195, USA.; Research Institute, Bloodworks Northwest, Seattle, WA 98102, USA.
Wheeler MM; Genome Science, University of Washington, Seattle, WA 98195, USA.
Custer BS; Vitalant Research Institute, San Francisco, CA 94105, USA.
Duggirala R; Department of Human Genetics, University of Texas Rio Grande Valley School of Medicine, Brownsville, TX 78520, USA.; South Texas Diabetes and Obesity Institute, University of Texas Rio Grande Valley School of Medicine, Brownsville, TX 78520, USA.
Curran JE; Department of Human Genetics, University of Texas Rio Grande Valley School of Medicine, Brownsville, TX 78520, USA.; South Texas Diabetes and Obesity Institute, University of Texas Rio Grande Valley School of Medicine, Brownsville, TX 78520, USA.
Blangero J; Department of Human Genetics, University of Texas Rio Grande Valley School of Medicine, Brownsville, TX 78520, USA.; South Texas Diabetes and Obesity Institute, University of Texas Rio Grande Valley School of Medicine, Brownsville, TX 78520, USA.
Gui H; Center for Individualized and Genomic Medicine Research (CIGMA), Henry Ford Health System, Detroit, MI 48202, USA.; Department of Medicine, Henry Ford Health System, Detroit, MI 48202, USA.
Xiao S; Center for Individualized and Genomic Medicine Research (CIGMA), Henry Ford Health System, Detroit, MI 48202, USA.; Department of Medicine, Henry Ford Health System, Detroit, MI 48202, USA.
Williams LK; Center for Individualized and Genomic Medicine Research (CIGMA), Henry Ford Health System, Detroit, MI 48202, USA.; Department of Medicine, Henry Ford Health System, Detroit, MI 48202, USA.
Meyers DA; Division of Genetics, Genomics, and Precision Medicine, University of Arizona, Tucson, AZ 85721, USA.
Li X; Department of Medicine, University of Arizona, Tucson, AZ 85721, USA.
Ortega V; Wake Forest University School of Medicine, Winston-Salem, NC 27101, USA.
McGarvey S; Department of Epidemiology and International Health Institute, Brown University School of Public Health, Providence, RI 02903, USA.
Gu CC; Division of Biostatistics, Washington University School of Medicine, Campus Box 8067, 660 S. Euclid Avenue, St. Louis, MO 63110, USA.
Chen YI; The Institute for Translational Genomics and Population Sciences, Department of Pediatrics, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA 90502, USA.
Lee WJ; Department of Medical Research, Taichung Veterans General Hospital, 1650, Sec. 4, Taiwan Boulevard, Taichung City, Taiwan.
Shoemaker MB; Division of Cardiology, Vanderbilt University Medical Center, Nashville, TN 37232, USA.
Darbar D; Division of Cardiology, University of Illinois at Chicago, Chicago, IL 60607, USA.
Roden D; Departments of Medicine, Pharmacology, and Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN 37232, USA.
Albert C; Department of Cardiology, Cedars-Sinai, Los Angeles, CA 90048, USA.
Kooperberg C; Division of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, WA 98109, USA.
Desai P; Division of Hematology and Oncology, Weill Cornell Medicine, New York, NY 10065, USA.; Englander Institute of Precision Medicine, Weill Cornell Medicine, New York 10065, NY, USA.
Blackwell TW; Center for Statistical Genetics, Department of Biostatistics, University of Michigan School of Public Health, Ann Arbor, MI 48109, USA.
Abecasis GR; Center for Statistical Genetics, Department of Biostatistics, University of Michigan School of Public Health, Ann Arbor, MI 48109, USA.; Regeneron Pharmaceuticals, Tarrytown, NY 10591, USA.
Smith AV; Center for Statistical Genetics, Department of Biostatistics, University of Michigan School of Public Health, Ann Arbor, MI 48109, USA.
Kang HM; Center for Statistical Genetics, Department of Biostatistics, University of Michigan School of Public Health, Ann Arbor, MI 48109, USA.
Mathias R; Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
Natarajan P; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA.; Cardiovascular Research Center, Massachusetts General Hospital, Boston, MA 02114, USA.; Department of Medicine, Harvard Medical School, Boston, MA 02115, USA.
Jaiswal S; Department of Pathology, Stanford University, Stanford, CA 94305, USA.
Reiner AP; Division of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, WA 98109, USA.; Department of Epidemiology, University of Washington, Seattle, WA 98195, USA.
Bick AG; Division of Genetic Medicine, Department of Medicine, Vanderbilt University, Nashville, TN 37232, USA.
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Corporate Authors:
NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium
Źródło:
Science advances [Sci Adv] 2023 Apr 28; Vol. 9 (17), pp. eabm4945. Date of Electronic Publication: 2023 Apr 26.
Typ publikacji:
Journal Article
MeSH Terms:
Hematopoiesis*
Germ-Line Mutation*
Humans ; Middle Aged ; Mutation ; Mutation, Missense ; Phenotype
Czasopismo naukowe
Szczegóły
Tytuł:
Inborn errors of immunity with loss- and gain-of-function germline mutations in STAT1.
Autorzy:
Asano T; Department of Pediatrics, Hiroshima University, Graduate School of Biomedical and Health Sciences, Hiroshima, Japan.
Utsumi T; Department of Pediatrics, Hiroshima University, Graduate School of Biomedical and Health Sciences, Hiroshima, Japan.
Kagawa R; Department of Pediatrics, Hiroshima University, Graduate School of Biomedical and Health Sciences, Hiroshima, Japan.
Karakawa S; Department of Pediatrics, Hiroshima University, Graduate School of Biomedical and Health Sciences, Hiroshima, Japan.
Okada S; Department of Pediatrics, Hiroshima University, Graduate School of Biomedical and Health Sciences, Hiroshima, Japan.
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Źródło:
Clinical and experimental immunology [Clin Exp Immunol] 2023 Apr 25; Vol. 212 (2), pp. 96-106.
Typ publikacji:
Journal Article; Review; Research Support, Non-U.S. Gov't
MeSH Terms:
Candidiasis, Chronic Mucocutaneous*/genetics
Germ-Line Mutation*
Humans ; Gain of Function Mutation ; Mutation ; STAT1 Transcription Factor/metabolism
Czasopismo naukowe
Szczegóły
Tytuł:
Identification and characterisation of de novo germline structural variants in two commercial pig lines using trio-based whole genome sequencing.
Autorzy:
Steensma MJ; Wageningen University & Research Animal Breeding and Genomics, P.O. Box 338, Wageningen, 6700 AH, the Netherlands. .
Lee YL; Wageningen University & Research Animal Breeding and Genomics, P.O. Box 338, Wageningen, 6700 AH, the Netherlands.
Bouwman AC; Wageningen University & Research Animal Breeding and Genomics, P.O. Box 338, Wageningen, 6700 AH, the Netherlands.
Pita Barros C; Wageningen University & Research Animal Breeding and Genomics, P.O. Box 338, Wageningen, 6700 AH, the Netherlands.
Derks MFL; Wageningen University & Research Animal Breeding and Genomics, P.O. Box 338, Wageningen, 6700 AH, the Netherlands.; Topigs Norsvin Research Center, Schoenaker 6, Beuningen, 6641 SZ, the Netherlands.
Bink MCAM; Hendrix Genetics, P.O. Box 114, Boxmeer, 5830 AC, the Netherlands.
Harlizius B; Topigs Norsvin Research Center, Schoenaker 6, Beuningen, 6641 SZ, the Netherlands.
Huisman AE; Hendrix Genetics, P.O. Box 114, Boxmeer, 5830 AC, the Netherlands.
Crooijmans RPMA; Wageningen University & Research Animal Breeding and Genomics, P.O. Box 338, Wageningen, 6700 AH, the Netherlands.
Groenen MAM; Wageningen University & Research Animal Breeding and Genomics, P.O. Box 338, Wageningen, 6700 AH, the Netherlands.
Mulder HA; Wageningen University & Research Animal Breeding and Genomics, P.O. Box 338, Wageningen, 6700 AH, the Netherlands.
Rochus CM; University of Guelph, Centre for Genetic Improvement of Livestock, 50 Stone Rd E, Guelph, O N, N1G 2W1, Canada.
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Źródło:
BMC genomics [BMC Genomics] 2023 Apr 18; Vol. 24 (1), pp. 208. Date of Electronic Publication: 2023 Apr 18.
Typ publikacji:
Journal Article
MeSH Terms:
Germ-Line Mutation*
Germ Cells*
Animals ; Swine/genetics ; Mutation ; Whole Genome Sequencing ; Haplotypes
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
The effect of mutation subtypes on the allele frequency spectrum and population genetics inference.
Autorzy:
Liao K; Department of Biostatistics, University of Michigan, Ann Arbor, MI 48109, USA.
Carlson J; Department of Integrative Biology, University of Texas at Austin, Austin, TX 78712, USA.; Department of Population Health, University of Texas at Austin, Austin, TX 78712, USA.
Zöllner S; Department of Biostatistics, University of Michigan, Ann Arbor, MI 48109, USA.; Department of Psychiatry, University of Michigan, Ann Arbor, MI 48109, USA.
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Źródło:
G3 (Bethesda, Md.) [G3 (Bethesda)] 2023 Apr 11; Vol. 13 (4).
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms:
Genetics, Population*
Mutation Rate*
Humans ; Gene Frequency ; Mutation ; Nucleotides
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Na v 1.7 gain-of-function mutation I228M triggers age-dependent nociceptive insensitivity and C-LTMR dysregulation.
Autorzy:
Wimalasena NK; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA 02115, USA; Department of Neurobiology, Harvard Medical School, Boston, MA 02115, USA.
Taub DG; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA 02115, USA; Department of Neurobiology, Harvard Medical School, Boston, MA 02115, USA.
Shim J; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA 02115, USA; Department of Neurobiology, Harvard Medical School, Boston, MA 02115, USA.
Hakim S; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA 02115, USA; Department of Neurobiology, Harvard Medical School, Boston, MA 02115, USA.
Kawaguchi R; Department of Neurology, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA 90095, USA.
Chen L; Department of Neurology and Center for Neuroscience and Regeneration Research, Yale University School of Medicine, New Haven, CT 06510, USA; Center for Rehabilitation Research, VA Connecticut Healthcare System, West Haven, CT 06516, USA.
El-Rifai M; Department of Neurobiology, Harvard Medical School, Boston, MA 02115, USA.
Geschwind DH; Department of Neurology, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA 90095, USA.
Dib-Hajj SD; Department of Neurology and Center for Neuroscience and Regeneration Research, Yale University School of Medicine, New Haven, CT 06510, USA; Center for Rehabilitation Research, VA Connecticut Healthcare System, West Haven, CT 06516, USA.
Waxman SG; Department of Neurology and Center for Neuroscience and Regeneration Research, Yale University School of Medicine, New Haven, CT 06510, USA; Center for Rehabilitation Research, VA Connecticut Healthcare System, West Haven, CT 06516, USA.
Woolf CJ; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA 02115, USA; Department of Neurobiology, Harvard Medical School, Boston, MA 02115, USA. Electronic address: .
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Źródło:
Experimental neurology [Exp Neurol] 2023 Jun; Vol. 364, pp. 114393. Date of Electronic Publication: 2023 Mar 30.
Typ publikacji:
Journal Article; Research Support, U.S. Gov't, Non-P.H.S.; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural
MeSH Terms:
Gain of Function Mutation*/genetics
NAV1.7 Voltage-Gated Sodium Channel*/genetics
Male ; Female ; Mice ; Animals ; Nociception ; Mutation/genetics ; Sodium ; Ganglia, Spinal/pathology
SCR Disease Name:
Paroxysmal Extreme Pain Disorder
Czasopismo naukowe
Szczegóły
Tytuł:
Missense mutation of c.635 T > C in CAPN3 impairs muscle injury repair in a Limb-Girdel Muscular Dystropy Model.
Autorzy:
Ma HS; Shanghai Institute of Medical Genetics, Shanghai Children's Hospital, School of medicine, Shanghai Jiao Tong University, Shanghai, 200040, China.
Gong XL; Shanghai Institute of Medical Genetics, Shanghai Children's Hospital, School of medicine, Shanghai Jiao Tong University, Shanghai, 200040, China.; NHC Key Laboratory of Medical Embryogenesis and Developmental Molecular Biology & Shanghai Key Laboratory of Embryo and Reproduction Engineering, Shanghai, 200040, China.
Li WX; Shanghai Institute of Medical Genetics, Shanghai Children's Hospital, School of medicine, Shanghai Jiao Tong University, Shanghai, 200040, China.
Cai Q; Shanghai Institute of Medical Genetics, Shanghai Children's Hospital, School of medicine, Shanghai Jiao Tong University, Shanghai, 200040, China.; NHC Key Laboratory of Medical Embryogenesis and Developmental Molecular Biology & Shanghai Key Laboratory of Embryo and Reproduction Engineering, Shanghai, 200040, China.
Chen YW; Shanghai Institute of Medical Genetics, Shanghai Children's Hospital, School of medicine, Shanghai Jiao Tong University, Shanghai, 200040, China.
Guo XB; Shanghai Institute of Medical Genetics, Shanghai Children's Hospital, School of medicine, Shanghai Jiao Tong University, Shanghai, 200040, China.
Ren ZR; Shanghai Institute of Medical Genetics, Shanghai Children's Hospital, School of medicine, Shanghai Jiao Tong University, Shanghai, 200040, China.; NHC Key Laboratory of Medical Embryogenesis and Developmental Molecular Biology & Shanghai Key Laboratory of Embryo and Reproduction Engineering, Shanghai, 200040, China.
Zeng F; Shanghai Institute of Medical Genetics, Shanghai Children's Hospital, School of medicine, Shanghai Jiao Tong University, Shanghai, 200040, China.; NHC Key Laboratory of Medical Embryogenesis and Developmental Molecular Biology & Shanghai Key Laboratory of Embryo and Reproduction Engineering, Shanghai, 200040, China.; Department of Histo-Embryology, Genetics and Developmental Biology, Shanghai Jiao Tong University School of Medicine, Shanghai, 200025, China.
Yan JB; Shanghai Institute of Medical Genetics, Shanghai Children's Hospital, School of medicine, Shanghai Jiao Tong University, Shanghai, 200040, China.; NHC Key Laboratory of Medical Embryogenesis and Developmental Molecular Biology & Shanghai Key Laboratory of Embryo and Reproduction Engineering, Shanghai, 200040, China.
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Źródło:
Clinical genetics [Clin Genet] 2023 Jun; Vol. 103 (6), pp. 663-671. Date of Electronic Publication: 2023 Mar 31.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Mutation, Missense*
Muscular Dystrophies, Limb-Girdle*/genetics
Humans ; Animals ; Mice ; Muscle Proteins/genetics ; Muscle, Skeletal/pathology ; Mutation ; Calpain/genetics ; Disease Models, Animal
Czasopismo naukowe
Szczegóły
Tytuł:
Possible involvement of silent mutations in cancer pathogenesis and evolution.
Autorzy:
Kikutake C; Division of Bioinformatics, Medical Institute of Bioregulation, Kyushu University, Fukuoka, 812-8582, Japan.
Suyama M; Division of Bioinformatics, Medical Institute of Bioregulation, Kyushu University, Fukuoka, 812-8582, Japan. .
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Źródło:
Scientific reports [Sci Rep] 2023 May 10; Vol. 13 (1), pp. 7593. Date of Electronic Publication: 2023 May 10.
Typ publikacji:
Journal Article
MeSH Terms:
Silent Mutation*
Neoplasms*/genetics
Humans ; Evolution, Molecular ; Mutation ; Codon
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Familial Whole Exome Sequencing Study of 30 Families With Early-Onset High Myopia.
Autorzy:
Yang E; Department of Ophthalmology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, China.
Yu J; Department of Ophthalmology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, China.
Liu X; Department of Ophthalmology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, China.
Chu H; Department of Ophthalmology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, China.
Li L; Department of Ophthalmology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, China.
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Źródło:
Investigative ophthalmology & visual science [Invest Ophthalmol Vis Sci] 2023 May 01; Vol. 64 (5), pp. 10.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Frameshift Mutation*
Myopia*/genetics
Humans ; Exome Sequencing ; Mutation ; Pedigree
Czasopismo naukowe
Szczegóły
Tytuł:
A point mutation and large deletion at the candidate avirulence locus AvrMlp7 in the poplar rust fungus correlate with poplar RMlp7 resistance breakdown.
Autorzy:
Louet C; Université de Lorraine, INRAE, IAM, Nancy, France.
Saubin M; Université de Lorraine, INRAE, IAM, Nancy, France.
Andrieux A; Université de Lorraine, INRAE, IAM, Nancy, France.
Persoons A; Université de Lorraine, INRAE, IAM, Nancy, France.
Gorse M; Université de Lorraine, INRAE, IAM, Nancy, France.
Pétrowski J; Université de Lorraine, INRAE, IAM, Nancy, France.
Fabre B; Université de Lorraine, INRAE, IAM, Nancy, France.
De Mita S; Université de Lorraine, INRAE, IAM, Nancy, France.
Duplessis S; Université de Lorraine, INRAE, IAM, Nancy, France.
Frey P; Université de Lorraine, INRAE, IAM, Nancy, France.
Halkett F; Université de Lorraine, INRAE, IAM, Nancy, France.
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Źródło:
Molecular ecology [Mol Ecol] 2023 May; Vol. 32 (10), pp. 2472-2483. Date of Electronic Publication: 2021 Dec 14.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Point Mutation*
Basidiomycota*/genetics
Mutation ; Europe ; Genetics, Population ; Fungi ; Plant Diseases/genetics ; Plant Diseases/microbiology
Czasopismo naukowe
Szczegóły
Tytuł:
A novel FUT1*c.889C>T allele associated with the para-Bombay AB phenotype and computational evaluation of the mutation effect.
Autorzy:
Luo H; Institute of Clinical Blood Transfusion, Guangzhou Blood Center, Guangzhou, People's Republic of China.
Shao Y; Institute of Clinical Blood Transfusion, Guangzhou Blood Center, Guangzhou, People's Republic of China.
Wen J; Institute of Clinical Blood Transfusion, Guangzhou Blood Center, Guangzhou, People's Republic of China.
Chen Z; Yangjiang People's Hospital, Yangjiang, People's Republic of China.
Ji Y; Institute of Clinical Blood Transfusion, Guangzhou Blood Center, Guangzhou, People's Republic of China.
Wang J; Institute of Clinical Blood Transfusion, Guangzhou Blood Center, Guangzhou, People's Republic of China.
Wang Z; Institute of Clinical Blood Transfusion, Guangzhou Blood Center, Guangzhou, People's Republic of China.
Luo G; Institute of Clinical Blood Transfusion, Guangzhou Blood Center, Guangzhou, People's Republic of China.
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Źródło:
Transfusion [Transfusion] 2023 May; Vol. 63 (5), pp. 912-917. Date of Electronic Publication: 2023 Feb 28.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Mutation, Missense*
Alleles ; Genotype ; Mutation ; Phenotype ; Humans
Czasopismo naukowe
Szczegóły
Tytuł:
Practical challenges for functional validation of STAT1 gain of function genetic variants.
Autorzy:
Albuquerque AS; Institute of Immunity and Transplantation, University College London, London, UK.
Maimaris J; Institute of Immunity and Transplantation, University College London, London, UK.; Department of Immunology, Royal Free London NHS Foundation Trust, London, UK.
McKenna AJ; Institute of Immunity and Transplantation, University College London, London, UK.
Lambourne J; Department of Infectious Diseases, Royal London Hospital, Barts Health NHS Trust, London, UK.
Moreira F; Department of Immunology, Royal Free London NHS Foundation Trust, London, UK.
Workman S; Department of Immunology, Royal Free London NHS Foundation Trust, London, UK.
Megy K; NIHR BioResource-Rare Disease Consortium, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, UK.
Simeoni I; NIHR BioResource-Rare Disease Consortium, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, UK.
Lango Allen H; NIHR BioResource-Rare Disease Consortium, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, UK.; Cambridge Genomics Laboratory, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
Morris EC; Institute of Immunity and Transplantation, University College London, London, UK.; Department of Immunology, Royal Free London NHS Foundation Trust, London, UK.
Burns SO; Institute of Immunity and Transplantation, University College London, London, UK.; Department of Immunology, Royal Free London NHS Foundation Trust, London, UK.
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Corporate Authors:
NIHR BioResource-Rare Disease Consortium
Źródło:
Clinical and experimental immunology [Clin Exp Immunol] 2023 Apr 25; Vol. 212 (2), pp. 166-169.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Gain of Function Mutation*
Candidiasis, Chronic Mucocutaneous*/genetics
Humans ; Mutation ; STAT1 Transcription Factor/genetics ; STAT1 Transcription Factor/metabolism
Czasopismo naukowe
Szczegóły
Tytuł:
Dentin defects caused by a Dspp frameshift mutation are associated with the activation of autophagy.
Autorzy:
Liang T; Department of Biologic and Materials Sciences, University of Michigan School of Dentistry, 1011 North University, Ann Arbor, MI, 48109-1078, USA. .
Smith CE; Department of Biologic and Materials Sciences, University of Michigan School of Dentistry, 1011 North University, Ann Arbor, MI, 48109-1078, USA.; Department of Anatomy & Cell Biology, Faculty of Medicine & Health Sciences, McGill University, Montreal, QC, Canada.
Hu Y; Department of Biologic and Materials Sciences, University of Michigan School of Dentistry, 1011 North University, Ann Arbor, MI, 48109-1078, USA.
Zhang H; Department of Biologic and Materials Sciences, University of Michigan School of Dentistry, 1011 North University, Ann Arbor, MI, 48109-1078, USA.
Zhang C; Department of Biologic and Materials Sciences, University of Michigan School of Dentistry, 1011 North University, Ann Arbor, MI, 48109-1078, USA.
Xu Q; Department of Biomedical Sciences and Center for Craniofacial Research and Diagnosis, Texas A&M University College of Dentistry, 3302 Gaston Ave., Dallas, TX, 75246, USA.
Lu Y; Department of Biomedical Sciences and Center for Craniofacial Research and Diagnosis, Texas A&M University College of Dentistry, 3302 Gaston Ave., Dallas, TX, 75246, USA.
Qi L; Department of Molecular & Integrative Physiology, Department of Internal Medicine, Division of Metabolism, Endocrinology and Diabetes, University of Michigan Medical School, 1000 Wall St., Ann Arbor, MI, 48105, USA.
Hu JC; Department of Biologic and Materials Sciences, University of Michigan School of Dentistry, 1011 North University, Ann Arbor, MI, 48109-1078, USA.
Simmer JP; Department of Biologic and Materials Sciences, University of Michigan School of Dentistry, 1011 North University, Ann Arbor, MI, 48109-1078, USA.
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Źródło:
Scientific reports [Sci Rep] 2023 Apr 19; Vol. 13 (1), pp. 6393. Date of Electronic Publication: 2023 Apr 19.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms:
Frameshift Mutation*
Extracellular Matrix Proteins*/genetics
Mice ; Humans ; Animals ; Odontoblasts ; Mutation ; Phosphoproteins/genetics ; Sialoglycoproteins/genetics ; Dentin ; Autophagy/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Lymphatic contractile dysfunction in mouse models of Cantú Syndrome with K ATP channel gain-of-function.
Autorzy:
Davis MJ; Department of Medical Pharmacology and Physiology, University of Missouri School of Medicine, Columbia MO 65212, USA.
Castorena-Gonzalez JA; Department of Pharmacology, Tulane University School of Medicine, New Orleans LA 70112, USA.
Kim HJ; Department of Medical Pharmacology and Physiology, University of Missouri School of Medicine, Columbia MO 65212, USA.
Li M; Department of Medical Pharmacology and Physiology, University of Missouri School of Medicine, Columbia MO 65212, USA.
Remedi M; Center for the Investigation of Membrane Excitability Diseases, Washington University School of Medicine, St. Louis, MO 63110, USA.; Division of Endocrinology, Diabetes and Metabolism, Department of Medicine, Washington University School of Medicine, St. Louis, MO 63110, USA.
Nichols CG; Center for the Investigation of Membrane Excitability Diseases, Washington University School of Medicine, St. Louis, MO 63110, USA.; Department of Cell Biology and Physiology, Washington University School of Medicine, St. Louis, MO 63110, USA.
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Źródło:
Function (Oxford, England) [Function (Oxf)] 2023 Apr 18; Vol. 4 (3), pp. zqad017. Date of Electronic Publication: 2023 Apr 18 (Print Publication: 2023).
Typ publikacji:
Journal Article
MeSH Terms:
KATP Channels*/genetics
Gain of Function Mutation*/genetics
Mice ; Animals ; Mutation ; Adenosine Triphosphate
SCR Disease Name:
Cantu syndrome
Czasopismo naukowe
Szczegóły
Tytuł:
Counterintuitive structural and functional effects due to naturally occurring mutations targeting the active site of the disease-associated NQO1 enzyme.
Autorzy:
Pacheco-García JL; Departamento de Química Física, Universidad de Granada, Spain.
Anoz-Carbonell E; Departamento de Bioquímica y Biología Molecular y Celular, Facultad de Ciencias, Instituto de Biocomputación y Física de Sistemas Complejos (BIFI) (GBsC-CSIC Joint Unit), Universidad de Zaragoza, Spain.
Loginov DS; Institute of Microbiology - BioCeV, Academy of Sciences of the Czech Republic, Vestec, Czech Republic.
Kavan D; Institute of Microbiology - BioCeV, Academy of Sciences of the Czech Republic, Vestec, Czech Republic.
Salido E; Center for Rare Diseases (CIBERER), Hospital Universitario de Canarias, Universidad de la Laguna, Tenerife, Spain.
Man P; Institute of Microbiology - BioCeV, Academy of Sciences of the Czech Republic, Vestec, Czech Republic.
Medina M; Departamento de Bioquímica y Biología Molecular y Celular, Facultad de Ciencias, Instituto de Biocomputación y Física de Sistemas Complejos (BIFI) (GBsC-CSIC Joint Unit), Universidad de Zaragoza, Spain.
Pey AL; Departamento de Química Física, Unidad de Excelencia en Química Aplicada a Biomedicina y Medioambiente e Instituto de Biotecnología, Universidad de Granada, Spain.
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Źródło:
The FEBS journal [FEBS J] 2023 Apr; Vol. 290 (7), pp. 1855-1873. Date of Electronic Publication: 2022 Nov 25.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Proteins*/chemistry
Mutation, Missense*
Humans ; Catalytic Domain/genetics ; Mutation ; Molecular Biology ; Computational Biology ; NAD(P)H Dehydrogenase (Quinone)/genetics ; NAD(P)H Dehydrogenase (Quinone)/metabolism
Czasopismo naukowe
Szczegóły
Tytuł:
A novel C19orf12 frameshift mutation in a MPAN pedigree impairs mitochondrial function and connectivity leading to neurodegeneration.
Autorzy:
Chen HY; Department of Microbiology, College of Medicine, National Taiwan University, Taipei, Taiwan.
Lin HI; Department of Neurology, National Taiwan University Hospital, Taipei, Taiwan.
Hsu CL; Department of Medical Research, National Taiwan University Hospital, Taipei, Taiwan.
Chen PL; Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan; Graduate Institute of Medical Genomics and Proteomics, National Taiwan University, College of Medicine, Taipei, Taiwan.
Huang CY; The First Core Laboratory, College of Medicine, National Taiwan University, Taipei, Taiwan.
Teng SC; Department of Microbiology, College of Medicine, National Taiwan University, Taipei, Taiwan; Center of Precision Medicine, National Taiwan University, Taipei, Taiwan. Electronic address: .
Lin CH; Department of Neurology, National Taiwan University Hospital, Taipei, Taiwan; Institute of Molecular Medicine, College of Medicine, National Taiwan University, Taipei, Taiwan. Electronic address: .
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Źródło:
Parkinsonism & related disorders [Parkinsonism Relat Disord] 2023 Apr; Vol. 109, pp. 105353. Date of Electronic Publication: 2023 Feb 27.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Frameshift Mutation*/genetics
Neuroblastoma*
Humans ; alpha-Synuclein/genetics ; Pedigree ; Mitochondrial Proteins/genetics ; Mitochondria/genetics ; Mitochondria/metabolism ; Mutation ; Membrane Proteins/genetics ; Iron/metabolism
Czasopismo naukowe
Szczegóły
Tytuł:
Novel frameshift mutation in the noncollagenous region of the COL7A1 gene in pretibial epidermolysis bullosa.
Autorzy:
Schneider C; Dr. Phillip Frost Department of Dermatology and Cutaneous Surgery, University of Miami Miller School of Medicine, Miami, FL, USA.
Mervis J; Dr. Phillip Frost Department of Dermatology and Cutaneous Surgery, University of Miami Miller School of Medicine, Miami, FL, USA.
Lev-Tov H; Dr. Phillip Frost Department of Dermatology and Cutaneous Surgery, University of Miami Miller School of Medicine, Miami, FL, USA.
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Źródło:
International journal of dermatology [Int J Dermatol] 2023 Apr; Vol. 62 (4), pp. e204-e205. Date of Electronic Publication: 2022 Sep 13.
Typ publikacji:
Letter
MeSH Terms:
Frameshift Mutation*
Epidermolysis Bullosa Dystrophica*/genetics
Humans ; Mutation ; Collagen Type VII/genetics ; Pedigree
SCR Disease Name:
Epidermolysis bullosa, pretibial
Opinia redakcyjna
Szczegóły
Tytuł:
A multifaceted disease: The stats of STAT3 GOF.
Autorzy:
Freeman AF; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md. Electronic address: .
Bergerson JRE; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md.
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Źródło:
The Journal of allergy and clinical immunology [J Allergy Clin Immunol] 2023 Apr; Vol. 151 (4), pp. 901-903. Date of Electronic Publication: 2023 Feb 21.
Typ publikacji:
Editorial; Research Support, N.I.H., Intramural; Comment
MeSH Terms:
Gain of Function Mutation*
STAT3 Transcription Factor*/genetics
STAT3 Transcription Factor*/metabolism
Humans ; Mutation ; STAT1 Transcription Factor/genetics
Raport
Szczegóły
Tytuł:
When more is less: heritable gain-of-function chk1 mutations impair human fertility.
Autorzy:
Gillespie DA; Instituto de Tecnologías Biomédicas, Centro de Investigaciones Biomédicas de Canarias, Facultad de Medicina, Campus Ciencias de la Salud, Universidad de La Laguna, España.
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Źródło:
The FEBS journal [FEBS J] 2023 Apr; Vol. 290 (7), pp. 1719-1724. Date of Electronic Publication: 2022 Mar 08.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Gain of Function Mutation*
Protein Kinases*/genetics
Protein Kinases*/metabolism
Female ; Humans ; Checkpoint Kinase 1/genetics ; Checkpoint Kinase 1/metabolism ; DNA Damage ; Fertility/genetics ; G2 Phase Cell Cycle Checkpoints/genetics ; Mutation ; Phosphorylation
Czasopismo naukowe
Szczegóły
Wyświetlanie 1-20 z 737456

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