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Wyszukujesz frazę ""Genetic Predisposition to Disease"" wg kryterium: Temat


Tytuł :
Cross-ancestry GWAS meta-analysis identifies six breast cancer loci in African and European ancestry women.
Autorzy :
Adedokun B; Center for Clinical Cancer Genetics and Global Health, Department of Medicine, University of Chicago, Chicago, IL, USA.
Du Z; Department of Preventative Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
Gao G; Department of Public Health Sciences, University of Chicago, Chicago, IL, USA.
Ahearn TU; Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA.
Lunetta KL; Department of Biostatistics, Boston University School of Public Health, Boston, MA, USA.
Zirpoli G; Slone Epidemiology Center, Boston University, Boston, MA, USA.
Figueroa J; Usher Institute and CRUK Edinburgh Centre, University of Edinburgh, Edinburgh, UK.
John EM; Departments of Epidemiology & Population Health and of Medicine (Oncology) and Stanford Cancer Institute, Stanford University School of Medicine, Stanford, CA, USA.
Bernstein L; Biomarkers of Early Detection and Prevention, Department of Population Sciences, Beckman Research Institute, City of Hope Comprehensive Cancer Center, Duarte, CA, USA.
Zheng W; Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University, Nashville, TN, USA.
Hu JJ; Department of Public Health Sciences, University of Miami, Miami, FL, USA.
Ziegler RG; Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA.
Nyante S; Department of Radiology, University of North Carolina, Chapel Hill, NC, USA.
Bandera EV; Cancer Prevention and Control Program, Rutgers Cancer Institute of New Jersey, New Brunswick, NJ, USA.
Ingles SA; Department of Preventative Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
Press MF; Department of Pathology, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
Deming-Halverson SL; Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University, Nashville, TN, USA.
Rodriguez-Gil JL; Genomics, Development and Disease Section, Genetic Disease Research Branch, National Human Genome Research Institute, NIH, Bethesda, MD, USA.
Yao S; Department of Cancer Prevention and Control, Roswell Park Comprehensive Cancer Center, Buffalo, NY, USA.
Ogundiran TO; Department of Surgery, College of Medicine, University of Ibadan, Ibadan, Nigeria.
Ojengbede O; Center for Population and Reproductive Health, College of Medicine, University of Ibadan, Ibadan, Nigeria.
Blot W; Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University, Nashville, TN, USA.
Troester MA; Department of Epidemiology, Gillings School of Global Public Health, University of North Carolina, Chapel Hill, NC, USA.
Nathanson KL; Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Hennis A; University of the West Indies, Bridgetown, Barbados.; Department of Family, Population and Preventive Medicine, Stony Brook University, Stony Brook, NY, USA.
Nemesure B; Department of Family, Population and Preventive Medicine, Stony Brook University, Stony Brook, NY, USA.
Ambs S; Laboratory of Human Carcinogenesis, National Cancer Institute, Bethesda, MD, USA.
Fiorica PN; Department of Public Health Sciences, University of Chicago, Chicago, IL, USA.
Sucheston-Campbell LE; Department of Veterinary Biosciences, College of Veterinary Medicine, The Ohio State University, Columbus, OH, USA.
Bensen JT; Department of Epidemiology, Gillings School of Global Public Health, University of North Carolina, Chapel Hill, NC, USA.
Kushi LH; Division of Research, Kaiser Permanente Northern California, Oakland, CA, USA.
Torres-Mejia G; Center for Population Health Research, Instituto Nacional de Salud Publica, Cuernavaca, Mexico.
Hu D; Department of Medicine, University of California San Francisco, San Francisco, CA, USA.
Fejerman L; Department of Medicine, University of California San Francisco, San Francisco, CA, USA.
Bolla MK; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Dennis J; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Dunning AM; Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.
Easton DF; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.; Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.
Michailidou K; Biostatistics Unit, The Cyprus Institute of Neurology & Genetics, Nicosia, Cyprus.
Pharoah PDP; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.; Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.
Wang Q; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Sandler DP; Epidemiology Branch, National Institute of Environmental Health Sciences, NIH, Research Triangle Park, NC, USA.
Taylor JA; Epidemiology Branch, National Institute of Environmental Health Sciences, NIH, Research Triangle Park, NC, USA.
O'Brien KM; Epidemiology Branch, National Institute of Environmental Health Sciences, NIH, Research Triangle Park, NC, USA.
Kitahara CM; Radiation Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA.
Falusi AG; Institute for Advanced Medical Research and Training, College of Medicine, University of Ibadan, Ibadan, Oyo, Nigeria.
Babalola C; Department of Pharmaceutical Chemistry, University of Ibadan, Ibadan, Oyo, Nigeria.
Yarney J; Korle Bu Teaching Hospital, Accra, Ghana.
Awuah B; Komfo Anokye Teaching Hospital, Kumasi, Ghana.
Addai-Wiafe B; Peace and Love Hospital, Kumasi, Ghana.
Chanock SJ; Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA.
Olshan AF; Department of Epidemiology, Gillings School of Global Public Health, University of North Carolina, Chapel Hill, NC, USA.
Ambrosone CB; Department of Cancer Prevention and Control, Roswell Park Comprehensive Cancer Center, Buffalo, NY, USA.
Conti DV; Department of Preventative Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
Ziv E; Department of Medicine, University of California San Francisco, San Francisco, CA, USA.
Olopade OI; Center for Clinical Cancer Genetics and Global Health, Department of Medicine, University of Chicago, Chicago, IL, USA.
Garcia-Closas M; Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA.
Palmer JR; Slone Epidemiology Center, Boston University, Boston, MA, USA.
Haiman CA; Department of Preventative Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA. .
Huo D; Center for Clinical Cancer Genetics and Global Health, Department of Medicine, University of Chicago, Chicago, IL, USA. .; Department of Public Health Sciences, University of Chicago, Chicago, IL, USA. .
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Corporate Authors :
GBHS Study Team
Źródło :
Nature communications [Nat Commun] 2021 Jul 07; Vol. 12 (1), pp. 4198. Date of Electronic Publication: 2021 Jul 07.
Typ publikacji :
Journal Article; Meta-Analysis; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.
MeSH Terms :
Genetic Predisposition to Disease*
Quantitative Trait Loci*
African Continental Ancestry Group/*genetics
Breast Neoplasms/*genetics
European Continental Ancestry Group/*genetics
Female ; Genome-Wide Association Study ; Humans ; Introns ; Polymorphism, Single Nucleotide
Czasopismo naukowe
Tytuł :
GIGYF1 loss of function is associated with clonal mosaicism and adverse metabolic health.
Autorzy :
Zhao Y; MRC Epidemiology Unit, Institute of Metabolic Science, University of Cambridge, Cambridge, UK.
Stankovic S; MRC Epidemiology Unit, Institute of Metabolic Science, University of Cambridge, Cambridge, UK.
Koprulu M; MRC Epidemiology Unit, Institute of Metabolic Science, University of Cambridge, Cambridge, UK.
Wheeler E; MRC Epidemiology Unit, Institute of Metabolic Science, University of Cambridge, Cambridge, UK.
Day FR; MRC Epidemiology Unit, Institute of Metabolic Science, University of Cambridge, Cambridge, UK.
Lango Allen H; MRC Epidemiology Unit, Institute of Metabolic Science, University of Cambridge, Cambridge, UK.
Kerrison ND; MRC Epidemiology Unit, Institute of Metabolic Science, University of Cambridge, Cambridge, UK.
Pietzner M; MRC Epidemiology Unit, Institute of Metabolic Science, University of Cambridge, Cambridge, UK.
Loh PR; Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Wareham NJ; MRC Epidemiology Unit, Institute of Metabolic Science, University of Cambridge, Cambridge, UK.
Langenberg C; MRC Epidemiology Unit, Institute of Metabolic Science, University of Cambridge, Cambridge, UK.
Ong KK; MRC Epidemiology Unit, Institute of Metabolic Science, University of Cambridge, Cambridge, UK.
Perry JRB; MRC Epidemiology Unit, Institute of Metabolic Science, University of Cambridge, Cambridge, UK. .
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Źródło :
Nature communications [Nat Commun] 2021 Jul 07; Vol. 12 (1), pp. 4178. Date of Electronic Publication: 2021 Jul 07.
Typ publikacji :
Journal Article; Observational Study; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Genetic Predisposition to Disease*
Mosaicism*
Carrier Proteins/*genetics
Chromosomes, Human, Y/*genetics
Diabetes Mellitus, Type 2/*genetics
Adult ; Aged ; Carrier Proteins/metabolism ; Case-Control Studies ; DNA Mutational Analysis ; Diabetes Mellitus, Type 2/metabolism ; Female ; Genome-Wide Association Study ; Humans ; Insulin/metabolism ; Leukocytes ; Loss of Function Mutation ; Male ; Middle Aged ; Receptor, IGF Type 1/metabolism ; Signal Transduction/genetics ; Whole Exome Sequencing
Czasopismo naukowe
Tytuł :
Impact of the Physical Activity and Fitness Components on the Genetic Risk of Stroke.
Autorzy :
Jiménez-Pavón D; MOVE-IT Research Group, Department of Physical Education, Faculty of Education Sciences, University of Cádiz, Spain; Biomedical Research and Innovation Institute of Cádiz Research Unit, Puerta del Mar University Hospital, University of Cádiz, Spain; CIBER of Frailty and Healthy Aging (CIBERFES) Madrid, Spain. Electronic address: .
Laukkanen JA; Institute of Clinical Medicine, Department of Medicine, University of Eastern Finland, Kuopio; Institute of Public Health and Clinical Nutrition, University of Eastern Finland, Kuopio; Central Finland Health Care District, Jyväskylä, Finland.
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Źródło :
Mayo Clinic proceedings [Mayo Clin Proc] 2021 Jul; Vol. 96 (7), pp. 1703-1705.
Typ publikacji :
Editorial; Research Support, Non-U.S. Gov't
MeSH Terms :
Exercise*/physiology
Exercise*/psychology
Genetic Predisposition to Disease*
Physical Fitness*/physiology
Physical Fitness*/psychology
Stroke*/epidemiology
Stroke*/genetics
Stroke*/prevention & control
Effect Modifier, Epidemiologic ; Heart Disease Risk Factors ; Humans ; Risk Reduction Behavior
Raport
Tytuł :
The 2020 FASEB virtual Catalyst Conference on Integrative Approach for Complex Diseases Prevention and Management and Beyond, December 16, 2020.
Autorzy :
Chan KHK; Department of Biomedical Sciences, City University of Hong Kong, Hong Kong SAR, China.; Department of Electrical Engineering, City University of Hong Kong, Hong Kong SAR, China.; Department of Epidemiology, Center for Global Cardiometabolic Health, School of Public Health, Brown University, Providence, RI, USA.; Department of Medicine, The Warren Alpert School of Medicine, Brown University, Providence, RI, USA.; Department of Surgery, The Warren Alpert School of Medicine, Brown University, Providence, RI, USA.
Hsu YH; Institute for Aging Research, Hebrew SeniorLife, Boston, MA, USA.; Department of Medicine, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA, USA.
Yang X; Department of Integrative Biology and Physiology, University of California, Los Angeles, CA, USA.
Goto A; Department of Health Data Science, Graduate School of Data Science, Yokohama City University, Yokohama, Japan.; Epidemiology and Prevention Group, Center for Public Health Sciences, National Cancer Center, Tokyo, Japan.
Chen BH; Herbert Wertheim School of Public Health and Human Longevity, University of California, San Diego, CA, USA.; FOXO Technologies Inc., Minneapolis, MN, USA.
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Źródło :
FASEB journal : official publication of the Federation of American Societies for Experimental Biology [FASEB J] 2021 Jul; Vol. 35 (7), pp. e21500.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Genetic Predisposition to Disease*
Genome, Human*
Genome-Wide Association Study*
Polymorphism, Single Nucleotide*
Chronic Disease/*prevention & control
Chronic Disease/*therapy
Animals ; Congresses as Topic ; Humans
Czasopismo naukowe
Tytuł :
β-Arrestin 2 (ARRB2) Polymorphism is Associated With Adverse Consequences of Chronic Heroin Use.
Autorzy :
Karavidha KK; Department of Psychiatry and Behavioral Neurosciences, Wayne State University, Detroit, Michigan.
Burmeister M; Department of Computational Medicine & Bioinformatics, Michigan Neuroscience Institute, University of Michigan, Ann Arbor, Michigan.
Greenwald MK; Department of Psychiatry and Behavioral Neurosciences, Wayne State University, Detroit, Michigan.; Department of Pharmacy Practice, Wayne State University, Detroit, Michigan.
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Źródło :
The American journal on addictions [Am J Addict] 2021 Jul; Vol. 30 (4), pp. 351-357. Date of Electronic Publication: 2021 Mar 30.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Genetic Predisposition to Disease*
Heroin Dependence/*genetics
Polymorphism, Single Nucleotide/*genetics
beta-Arrestin 2/*genetics
Adult ; Chronic Disease ; Female ; Genotype ; Humans ; Male ; Middle Aged
Czasopismo naukowe
Tytuł :
An overview of genetic predisposition to familial hematological malignancies.
Autorzy :
Hamadou WS; Université de Sousse, UR Biologie moléculaire des leucémies et lymphomes, Faculté de médecine de Sousse, Sousse, Tunisia; Departement of Biology, College of Science, University of Hail, Hail, Saudi Arabia. Electronic address: .
Bouali N; Departement of Biology, College of Science, University of Hail, Hail, Saudi Arabia.
Besbes S; Université de Sousse, UR Biologie moléculaire des leucémies et lymphomes, Faculté de médecine de Sousse, Sousse, Tunisia.
Mani R; Université de Sousse, UR Biologie moléculaire des leucémies et lymphomes, Faculté de médecine de Sousse, Sousse, Tunisia.
Bardakci F; Departement of Biology, College of Science, University of Hail, Hail, Saudi Arabia.
Siddiqui AJ; Departement of Biology, College of Science, University of Hail, Hail, Saudi Arabia.
Badraoui R; Departement of Biology, College of Science, University of Hail, Hail, Saudi Arabia.
Adnan M; Departement of Biology, College of Science, University of Hail, Hail, Saudi Arabia.
Sobol H; Institut Paoli Calmettes, Département d'oncologie génétique, de prévention et dépistage, Marseille, France.
Soua Z; Université de Sousse, UR Biologie moléculaire des leucémies et lymphomes, Faculté de médecine de Sousse, Sousse, Tunisia.
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Źródło :
Bulletin du cancer [Bull Cancer] 2021 Jul-Aug; Vol. 108 (7-8), pp. 718-724. Date of Electronic Publication: 2021 May 26.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Genetic Predisposition to Disease*
Hematologic Neoplasms/*genetics
Age Factors ; Family ; Hematologic Neoplasms/epidemiology ; Hodgkin Disease/genetics ; Humans ; Leukemia, Lymphocytic, Chronic, B-Cell/genetics ; Leukemia, Myeloid, Acute/genetics ; Lymphoma, Non-Hodgkin/genetics ; Mutation ; Penetrance ; Precursor Cell Lymphoblastic Leukemia-Lymphoma/genetics ; Prognosis
Czasopismo naukowe
Tytuł :
Component Causes of Infectious Bovine Keratoconjunctivitis: The Role of Genetic Factors in the Epidemiology of Infectious Bovine Keratoconjunctivitis.
Autorzy :
O'Connor AM; Department of Large Animal Clinical Sciences, College of Veterinary Medicine, Michigan State University, 784 Wilson Road, Room G-100, East Lansing, MI 48824, USA. Electronic address: .
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Źródło :
The Veterinary clinics of North America. Food animal practice [Vet Clin North Am Food Anim Pract] 2021 Jul; Vol. 37 (2), pp. 321-327.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Genetic Predisposition to Disease*
Cattle/*genetics
Cattle Diseases/*genetics
Keratoconjunctivitis, Infectious/*genetics
Animals
Czasopismo naukowe
Tytuł :
Pan-ancestry exome-wide association analyses of COVID-19 outcomes in 586,157 individuals.
Autorzy :
Kosmicki JA; Regeneron Genetics Center, 777 Old Saw Mill River Road, Tarrytown, NY 10591, USA.
Horowitz JE; Regeneron Genetics Center, 777 Old Saw Mill River Road, Tarrytown, NY 10591, USA.
Banerjee N; Regeneron Genetics Center, 777 Old Saw Mill River Road, Tarrytown, NY 10591, USA.
Lanche R; Regeneron Genetics Center, 777 Old Saw Mill River Road, Tarrytown, NY 10591, USA.
Marcketta A; Regeneron Genetics Center, 777 Old Saw Mill River Road, Tarrytown, NY 10591, USA.
Maxwell E; Regeneron Genetics Center, 777 Old Saw Mill River Road, Tarrytown, NY 10591, USA.
Bai X; Regeneron Genetics Center, 777 Old Saw Mill River Road, Tarrytown, NY 10591, USA.
Sun D; Regeneron Genetics Center, 777 Old Saw Mill River Road, Tarrytown, NY 10591, USA.
Backman JD; Regeneron Genetics Center, 777 Old Saw Mill River Road, Tarrytown, NY 10591, USA.
Sharma D; Regeneron Genetics Center, 777 Old Saw Mill River Road, Tarrytown, NY 10591, USA.
Kury FSP; Regeneron Genetics Center, 777 Old Saw Mill River Road, Tarrytown, NY 10591, USA.
Kang HM; Regeneron Genetics Center, 777 Old Saw Mill River Road, Tarrytown, NY 10591, USA.
O'Dushlaine C; Regeneron Genetics Center, 777 Old Saw Mill River Road, Tarrytown, NY 10591, USA.
Yadav A; Regeneron Genetics Center, 777 Old Saw Mill River Road, Tarrytown, NY 10591, USA.
Mansfield AJ; Regeneron Genetics Center, 777 Old Saw Mill River Road, Tarrytown, NY 10591, USA.
Li AH; Regeneron Genetics Center, 777 Old Saw Mill River Road, Tarrytown, NY 10591, USA.
Watanabe K; Regeneron Genetics Center, 777 Old Saw Mill River Road, Tarrytown, NY 10591, USA.
Gurski L; Regeneron Genetics Center, 777 Old Saw Mill River Road, Tarrytown, NY 10591, USA.
McCarthy SE; Regeneron Genetics Center, 777 Old Saw Mill River Road, Tarrytown, NY 10591, USA.
Locke AE; Regeneron Genetics Center, 777 Old Saw Mill River Road, Tarrytown, NY 10591, USA.
Khalid S; Regeneron Genetics Center, 777 Old Saw Mill River Road, Tarrytown, NY 10591, USA.
O'Keeffe S; Regeneron Genetics Center, 777 Old Saw Mill River Road, Tarrytown, NY 10591, USA.
Mbatchou J; Regeneron Genetics Center, 777 Old Saw Mill River Road, Tarrytown, NY 10591, USA.
Chazara O; Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge CB2 0AA, UK.
Huang Y; Biogen, 300 Binney Street, Cambridge, MA 02142, USA.
Kvikstad E; Bristol Myers Squibb, Route 206 and Province Line Road, Princeton, NJ 08543, USA.
O'Neill A; Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge CB2 0AA, UK.
Nioi P; Alnylam Pharmaceuticals, 675 West Kendall Street, Cambridge, MA 02142, USA.
Parker MM; Alnylam Pharmaceuticals, 675 West Kendall Street, Cambridge, MA 02142, USA.
Petrovski S; Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge CB2 0AA, UK.
Runz H; Biogen, 300 Binney Street, Cambridge, MA 02142, USA.
Szustakowski JD; Bristol Myers Squibb, Route 206 and Province Line Road, Princeton, NJ 08543, USA.
Wang Q; Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge CB2 0AA, UK.
Wong E; Takeda California, Inc., 9625 Towne Centre Drive, San Diego, CA 92121, USA.
Cordova-Palomera A; Takeda California, Inc., 9625 Towne Centre Drive, San Diego, CA 92121, USA.
Smith EN; Takeda California, Inc., 9625 Towne Centre Drive, San Diego, CA 92121, USA.
Szalma S; Takeda California, Inc., 9625 Towne Centre Drive, San Diego, CA 92121, USA.
Zheng X; AbbVie, Inc., 1 N. Waukegan Road, North Chicago, IL 60064, USA.
Esmaeeli S; AbbVie, Inc., 1 N. Waukegan Road, North Chicago, IL 60064, USA.
Davis JW; AbbVie, Inc., 1 N. Waukegan Road, North Chicago, IL 60064, USA.
Lai YP; Pfizer, Inc., 1 Portland Street, Cambridge, MA 02139, USA.
Chen X; Pfizer, Inc., 1 Portland Street, Cambridge, MA 02139, USA.
Justice AE; Geisinger, Danville, PA 17822, USA.
Leader JB; Geisinger, Danville, PA 17822, USA.
Mirshahi T; Geisinger, Danville, PA 17822, USA.
Carey DJ; Geisinger, Danville, PA 17822, USA.
Verma A; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Sirugo G; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Ritchie MD; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Rader DJ; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Povysil G; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY 10032, USA.
Goldstein DB; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY 10032, USA; Department of Genetics and Development, Columbia University, New York, NY 10032, USA.
Kiryluk K; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY 10032, USA; Division of Nephrology, Department of Medicine, Vagelos College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA.
Pairo-Castineira E; Roslin Institute, University of Edinburgh, Easter Bush, Edinburgh EH25 9RG, UK; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital, Crewe Road, Edinburgh EH4 2XU, UK.
Rawlik K; Roslin Institute, University of Edinburgh, Easter Bush, Edinburgh EH25 9RG, UK.
Pasko D; Genomics England, London EC1M 6BQ, UK.
Walker S; Genomics England, London EC1M 6BQ, UK.
Meynert A; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital, Crewe Road, Edinburgh EH4 2XU, UK.
Kousathanas A; Genomics England, London EC1M 6BQ, UK.
Moutsianas L; Genomics England, London EC1M 6BQ, UK.
Tenesa A; Roslin Institute, University of Edinburgh, Easter Bush, Edinburgh EH25 9RG, UK; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital, Crewe Road, Edinburgh EH4 2XU, UK; Centre for Global Health Research, Usher Institute of Population Health Sciences and Informatics, Teviot Place, Edinburgh EH8 9AG, UK.
Caulfield M; Genomics England, London EC1M 6BQ, UK; William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London EC1M 6BQ, UK.
Scott R; Genomics England, London EC1M 6BQ, UK; Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK.
Wilson JF; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital, Crewe Road, Edinburgh EH4 2XU, UK; Centre for Global Health Research, Usher Institute of Population Health Sciences and Informatics, Teviot Place, Edinburgh EH8 9AG, UK.
Baillie JK; Roslin Institute, University of Edinburgh, Easter Bush, Edinburgh EH25 9RG, UK; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital, Crewe Road, Edinburgh EH4 2XU, UK; Intensive Care Unit, Royal Infirmary of Edinburgh, 54 Little France Drive, Edinburgh EH16 5SA, UK.
Butler-Laporte G; Lady Davis Institute, Jewish General Hospital, Montréal, QC H3T 1E2, Canada; Department of Epidemiology, Biostatistics and Occupational Health, McGill University, Montréal, QC H3A 0G4, Canada.
Nakanishi T; Lady Davis Institute, Jewish General Hospital, Montréal, QC H3T 1E2, Canada; Department of Human Genetics, McGill University, Montréal, QC H3A 0G4, Canada; Kyoto-McGill International Collaborative School in Genomic Medicine, Graduate School of Medicine, Kyoto University, Kyoto 606-8501, Japan.
Lathrop M; Department of Human Genetics, McGill University, Montréal, QC H3A 0G4, Canada; Canadian Centre for Computational Genomics, McGill University, Montréal, QC H3A 0G4, Canada.
Richards JB; Lady Davis Institute, Jewish General Hospital, Montréal, QC H3T 1E2, Canada; Department of Epidemiology, Biostatistics and Occupational Health, McGill University, Montréal, QC H3A 0G4, Canada; Department of Human Genetics, McGill University, Montréal, QC H3A 0G4, Canada; Department of Twins Research, King's College London, London WC2R 2LS, UK.
Jones M; Regeneron Genetics Center, 777 Old Saw Mill River Road, Tarrytown, NY 10591, USA.
Balasubramanian S; Regeneron Genetics Center, 777 Old Saw Mill River Road, Tarrytown, NY 10591, USA.
Salerno W; Regeneron Genetics Center, 777 Old Saw Mill River Road, Tarrytown, NY 10591, USA.
Shuldiner AR; Regeneron Genetics Center, 777 Old Saw Mill River Road, Tarrytown, NY 10591, USA.
Marchini J; Regeneron Genetics Center, 777 Old Saw Mill River Road, Tarrytown, NY 10591, USA.
Overton JD; Regeneron Genetics Center, 777 Old Saw Mill River Road, Tarrytown, NY 10591, USA.
Habegger L; Regeneron Genetics Center, 777 Old Saw Mill River Road, Tarrytown, NY 10591, USA.
Cantor MN; Regeneron Genetics Center, 777 Old Saw Mill River Road, Tarrytown, NY 10591, USA.
Reid JG; Regeneron Genetics Center, 777 Old Saw Mill River Road, Tarrytown, NY 10591, USA.
Baras A; Regeneron Genetics Center, 777 Old Saw Mill River Road, Tarrytown, NY 10591, USA.
Abecasis GR; Regeneron Genetics Center, 777 Old Saw Mill River Road, Tarrytown, NY 10591, USA. Electronic address: .
Ferreira MAR; Regeneron Genetics Center, 777 Old Saw Mill River Road, Tarrytown, NY 10591, USA. Electronic address: .
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Corporate Authors :
Regeneron Genetics Center
UKB Exome Sequencing Consortium
Źródło :
American journal of human genetics [Am J Hum Genet] 2021 Jul 01; Vol. 108 (7), pp. 1350-1355. Date of Electronic Publication: 2021 Jun 03.
Typ publikacji :
Journal Article
MeSH Terms :
Genetic Predisposition to Disease*
Whole Exome Sequencing*
COVID-19/*diagnosis
COVID-19/*genetics
Exome/*genetics
Hospitalization/*statistics & numerical data
COVID-19/immunology ; COVID-19/therapy ; Female ; Humans ; Interferons/genetics ; Male ; Prognosis ; SARS-CoV-2 ; Sample Size
Czasopismo naukowe
Tytuł :
Impact of I/D polymorphism of angiotensin-converting enzyme 1 (ACE1) gene on the severity of COVID-19 patients.
Autorzy :
Verma S; Department of Personalized and Molecular Medicine, Era University, Lucknow 226003, Uttar Pradesh, India.
Abbas M; Department of Personalized and Molecular Medicine, Era University, Lucknow 226003, Uttar Pradesh, India; Department of Microbiology, Era University, Lucknow 226003, Uttar Pradesh, India.
Verma S; Department of Personalized and Molecular Medicine, Era University, Lucknow 226003, Uttar Pradesh, India.
Khan FH; Lambe Institute for Translational Research, Discipline of Pathology, School of Medicine, National University of Ireland Galway (NUIG), Galway, Ireland.
Raza ST; Department of Biochemistry, Eras Lucknow Medical College and Hospital, Era University, Lucknow 226003, Uttar Pradesh, India.
Siddiqi Z; Department of Medicine, Eras Lucknow Medical College and Hospital, Era University, Lucknow 226003, Uttar Pradesh, India.
Ahmad I; Department of Personalized and Molecular Medicine, Era University, Lucknow 226003, Uttar Pradesh, India.
Mahdi F; Department of Personalized and Molecular Medicine, Era University, Lucknow 226003, Uttar Pradesh, India. Electronic address: .
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Źródło :
Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases [Infect Genet Evol] 2021 Jul; Vol. 91, pp. 104801. Date of Electronic Publication: 2021 Mar 04.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Amino Acid Substitution*
Genetic Predisposition to Disease*
Polymorphism, Genetic*
COVID-19/*epidemiology
COVID-19/*genetics
Peptidyl-Dipeptidase A/*genetics
SARS-CoV-2/*pathogenicity
Adult ; Age Factors ; Aged ; Alleles ; Angiotensin-Converting Enzyme 2/genetics ; Angiotensin-Converting Enzyme 2/metabolism ; Aspartic Acid/genetics ; Aspartic Acid/metabolism ; Asymptomatic Diseases ; COVID-19/mortality ; COVID-19/virology ; Comorbidity ; Diabetes Mellitus ; Female ; Gene Expression Regulation ; Gene Frequency ; Host-Pathogen Interactions/genetics ; Humans ; Hypertension ; India/epidemiology ; Isoleucine/genetics ; Isoleucine/metabolism ; Male ; Middle Aged ; Peptidyl-Dipeptidase A/metabolism ; Risk Factors ; SARS-CoV-2/physiology ; Severity of Illness Index ; Survival Analysis
Czasopismo naukowe
Tytuł :
Interferon-induced transmembrane protein-3 genetic variant rs12252 is associated with COVID-19 mortality.
Autorzy :
Alghamdi J; Saudi Biobank, King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard - Health Affairs, Riyadh, Saudi Arabia. Electronic address: .
Alaamery M; Developmental Medicine Department, King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard- Health Affairs, Riyadh, Saudi Arabia; KACST-BWH Centre of Excellence for Biomedicine, Joint Centers of Excellence Program, King Abdulaziz City for Science and Technology (KACST), Riyadh, Saudi Arabia; King Abdulaziz City for Science and Technology (KACST), Saudi Human Genome Project (SHGP), Satellite Lab at King Abdulaziz Medical City (KAMC), Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.
Barhoumi T; Core Facility and Research Platforms, King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard - Health Affairs, Riyadh, Saudi Arabia.
Rashid M; Department of Bioinformatics, King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard - Health Affairs, Riyadh, Saudi Arabia.
Alajmi H; Saudi Biobank, King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard - Health Affairs, Riyadh, Saudi Arabia.
Aljasser N; Saudi Biobank, King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard - Health Affairs, Riyadh, Saudi Arabia.
Alhendi Y; Saudi Biobank, King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard - Health Affairs, Riyadh, Saudi Arabia.
Alkhalaf H; Saudi Biobank, King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard - Health Affairs, Riyadh, Saudi Arabia.
Alqahtani H; Saudi Biobank, King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard - Health Affairs, Riyadh, Saudi Arabia.
Algablan O; Saudi Biobank, King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard - Health Affairs, Riyadh, Saudi Arabia.
Alshaya AI; College of Pharmacy, King Saud bin Abdulaziz University for Health Sciences, King Abdullah International Medical Research Center, Ministry of National Guard - Health Affairs, Riyadh, Saudi Arabia.
Tashkandi N; Nursing Services, Ministry of the National Guard - Health Affairs, King Abdullah International Medical Research Center, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.
Massadeh S; Developmental Medicine Department, King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard- Health Affairs, Riyadh, Saudi Arabia; KACST-BWH Centre of Excellence for Biomedicine, Joint Centers of Excellence Program, King Abdulaziz City for Science and Technology (KACST), Riyadh, Saudi Arabia; King Abdulaziz City for Science and Technology (KACST), Saudi Human Genome Project (SHGP), Satellite Lab at King Abdulaziz Medical City (KAMC), Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.
Almuzzaini B; Medical Genomics Research Department, King Abdullah International Medical Research Center, King Saud bin Abdulaziz University for Health Sciences, Ministry of National Guard - Health Affairs, Riyadh, Saudi Arabia.
Ehaideb SN; Experimental Medicine Department, King Abdullah International Medical Research Center, King Saud bin Abdulaziz University for Health Sciences, Ministry of National Guard - Health Affairs, Riyadh, Saudi Arabia.
Bosaeed M; Department of Medicine, Ministry of the National Guard - Health Affairs, Riyadh, Saudi Arabia; College of Medicine, King Saud bin Abdulaziz University for Health Sciences, King Abdullah International Medical Research Center, Riyadh, Saudi Arabia.
Ayoub K; King Abdulaziz Cardiac Center, Ministry of the National Guard - Health Affairs, King Abdullah International Medical Research Center, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.
Yezli S; The Global Centre for Mass Gatherings Medicine, Ministry of Health, Riyadh, Saudi Arabia.
Khan A; The Global Centre for Mass Gatherings Medicine, Ministry of Health, Riyadh, Saudi Arabia; College of Medicine, King Saud University, Riyadh, Saudi Arabia.
Alaskar A; Oncology Department, Ministry of the National Guard - Health Affairs, King Abdullah International Medical Research Center, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.
Bouchama A; Experimental Medicine Department, King Abdullah International Medical Research Center, King Saud bin Abdulaziz University for Health Sciences, Ministry of National Guard - Health Affairs, Riyadh, Saudi Arabia. Electronic address: .
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Źródło :
Genomics [Genomics] 2021 Jul; Vol. 113 (4), pp. 1733-1741. Date of Electronic Publication: 2021 Apr 07.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Genetic Predisposition to Disease*
COVID-19/*genetics
Membrane Proteins/*genetics
RNA-Binding Proteins/*genetics
SARS-CoV-2/*genetics
Adult ; Aged ; Aged, 80 and over ; COVID-19/mortality ; COVID-19/virology ; Female ; Genetic Association Studies ; Genotype ; Humans ; Interferons/genetics ; Male ; Middle Aged ; Polymorphism, Single Nucleotide/genetics ; SARS-CoV-2/pathogenicity
Czasopismo naukowe
Tytuł :
Glutathione S-transferase M1 and T1 genes deletion polymorphisms and blood pressure control among treated essential hypertensive patients in Burkina Faso.
Autorzy :
Sombié HK; Laboratory of Molecular Biology and Genetics (LABIOGENE), UFR/SVT, University Joseph Ki-Zerbo, 03 P.O. Box 7021, Ouagadougou 03, Burkina Faso.; Pietro Annigoni Biomolecular Research Center (CERBA), P.O. Box 364, Ouagadougou 01, Burkina Faso.
Tchelougou D; Laboratory of Molecular Biology and Genetics (LABIOGENE), UFR/SVT, University Joseph Ki-Zerbo, 03 P.O. Box 7021, Ouagadougou 03, Burkina Faso.; Pietro Annigoni Biomolecular Research Center (CERBA), P.O. Box 364, Ouagadougou 01, Burkina Faso.
Ouattara AK; Laboratory of Molecular Biology and Genetics (LABIOGENE), UFR/SVT, University Joseph Ki-Zerbo, 03 P.O. Box 7021, Ouagadougou 03, Burkina Faso. .; Pietro Annigoni Biomolecular Research Center (CERBA), P.O. Box 364, Ouagadougou 01, Burkina Faso. .; CERBA/LABIOGENE; University Joseph Ki-Zerbo, 01 BP 364, Ouagadougou 01, Burkina Faso. .
Kologo JK; Saint Camille Hospital of Ouagadougou (HOSCO), 01 P.O. Box 444, Ouagadougou 01, Burkina Faso.; University Hospital Center-Yalgado Ouédraogo (CHUYO), 01 P.O. Box 676, Ouagadougou, Burkina Faso.
Sorgho PA; Laboratory of Molecular Biology and Genetics (LABIOGENE), UFR/SVT, University Joseph Ki-Zerbo, 03 P.O. Box 7021, Ouagadougou 03, Burkina Faso.; Pietro Annigoni Biomolecular Research Center (CERBA), P.O. Box 364, Ouagadougou 01, Burkina Faso.
Somda D; Laboratory of Molecular Biology and Genetics (LABIOGENE), UFR/SVT, University Joseph Ki-Zerbo, 03 P.O. Box 7021, Ouagadougou 03, Burkina Faso.
Yaméogo S; Laboratory of Molecular Biology and Genetics (LABIOGENE), UFR/SVT, University Joseph Ki-Zerbo, 03 P.O. Box 7021, Ouagadougou 03, Burkina Faso.
Zongo AW; Laboratory of Molecular Biology and Genetics (LABIOGENE), UFR/SVT, University Joseph Ki-Zerbo, 03 P.O. Box 7021, Ouagadougou 03, Burkina Faso.
Kiendrebeogo IT; Laboratory of Molecular Biology and Genetics (LABIOGENE), UFR/SVT, University Joseph Ki-Zerbo, 03 P.O. Box 7021, Ouagadougou 03, Burkina Faso.; Pietro Annigoni Biomolecular Research Center (CERBA), P.O. Box 364, Ouagadougou 01, Burkina Faso.
Adoko ETHD; University Hospital Center-Yalgado Ouédraogo (CHUYO), 01 P.O. Box 676, Ouagadougou, Burkina Faso.
Yonli AT; Laboratory of Molecular Biology and Genetics (LABIOGENE), UFR/SVT, University Joseph Ki-Zerbo, 03 P.O. Box 7021, Ouagadougou 03, Burkina Faso.; Pietro Annigoni Biomolecular Research Center (CERBA), P.O. Box 364, Ouagadougou 01, Burkina Faso.
Djigma FW; Laboratory of Molecular Biology and Genetics (LABIOGENE), UFR/SVT, University Joseph Ki-Zerbo, 03 P.O. Box 7021, Ouagadougou 03, Burkina Faso.; Pietro Annigoni Biomolecular Research Center (CERBA), P.O. Box 364, Ouagadougou 01, Burkina Faso.
Zabsonré P; University Hospital Center-Yalgado Ouédraogo (CHUYO), 01 P.O. Box 676, Ouagadougou, Burkina Faso.
Millogo H; University Hospital Center-Yalgado Ouédraogo (CHUYO), 01 P.O. Box 676, Ouagadougou, Burkina Faso.
Simporé J; Laboratory of Molecular Biology and Genetics (LABIOGENE), UFR/SVT, University Joseph Ki-Zerbo, 03 P.O. Box 7021, Ouagadougou 03, Burkina Faso.; Pietro Annigoni Biomolecular Research Center (CERBA), P.O. Box 364, Ouagadougou 01, Burkina Faso.; Saint Camille Hospital of Ouagadougou (HOSCO), 01 P.O. Box 444, Ouagadougou 01, Burkina Faso.; Faculty of Medicine, University Saint Thomas d'Aquin, P.O. Box 10212, Ouagadougou, Burkina Faso.
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Źródło :
BMC research notes [BMC Res Notes] 2021 Jun 30; Vol. 14 (1), pp. 244. Date of Electronic Publication: 2021 Jun 30.
Typ publikacji :
Journal Article
MeSH Terms :
Genetic Predisposition to Disease*
Hypertension*/drug therapy
Hypertension*/genetics
Blood Pressure ; Burkina Faso ; Case-Control Studies ; Cross-Sectional Studies ; Genotype ; Glutathione Transferase/genetics ; Humans ; Polymorphism, Genetic
Czasopismo naukowe
Tytuł :
Genetic association of TOLLIP gene polymorphisms and HIV infection: a case-control study.
Autorzy :
Wang MG; Department of Respiratory and Critical Care Medicine, Clinical Research Center for Respiratory Disease, West China Hospital, Sichuan University, No. 37, Guo Xue Alley, Chengdu, 610041, Sichuan Province, People's Republic of China.
Wang J; Department of Infectious Disease, Neijiang Second People's Hospital, Neijiang, Sichuan Province, People's Republic of China.
He JQ; Department of Respiratory and Critical Care Medicine, Clinical Research Center for Respiratory Disease, West China Hospital, Sichuan University, No. 37, Guo Xue Alley, Chengdu, 610041, Sichuan Province, People's Republic of China. .
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Źródło :
BMC infectious diseases [BMC Infect Dis] 2021 Jun 21; Vol. 21 (1), pp. 590. Date of Electronic Publication: 2021 Jun 21.
Typ publikacji :
Journal Article
MeSH Terms :
Genetic Predisposition to Disease*
Polymorphism, Single Nucleotide*
HIV Infections/*genetics
Intracellular Signaling Peptides and Proteins/*genetics
Adult ; Alleles ; Case-Control Studies ; Genotype ; HIV Infections/etiology ; Humans ; Logistic Models ; Male ; Mannose-Binding Lectin/genetics ; Middle Aged
Czasopismo naukowe
Tytuł :
TMB in NSCLC: A Broken Dream?
Autorzy :
Bravaccini S; IRCCS Istituto Romagnolo per lo Studio dei Tumori (IRST) 'Dino Amadori', 47014 Meldola, Italy.
Bronte G; IRCCS Istituto Romagnolo per lo Studio dei Tumori (IRST) 'Dino Amadori', 47014 Meldola, Italy.
Ulivi P; IRCCS Istituto Romagnolo per lo Studio dei Tumori (IRST) 'Dino Amadori', 47014 Meldola, Italy.
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Źródło :
International journal of molecular sciences [Int J Mol Sci] 2021 Jun 18; Vol. 22 (12). Date of Electronic Publication: 2021 Jun 18.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Biomarkers, Tumor*
Genetic Predisposition to Disease*
Mutation*
Carcinoma, Non-Small-Cell Lung/*genetics
Lung Neoplasms/*genetics
Carcinoma, Non-Small-Cell Lung/diagnosis ; Carcinoma, Non-Small-Cell Lung/therapy ; Clinical Trials as Topic ; Disease Management ; Genetic Association Studies ; Humans ; Lung Neoplasms/diagnosis ; Lung Neoplasms/therapy ; Molecular Targeted Therapy ; Patient Outcome Assessment
Czasopismo naukowe
Tytuł :
Human α-Galactosidase A Mutants: Priceless Tools to Develop Novel Therapies for Fabry Disease.
Autorzy :
Modrego A; Institut de Biotecnologia i de Biomedicina, Universitat Autònoma de Barcelona, Bellaterra, 08193 Barcelona, Spain.; Centro Nacional de Biotecnología, Consejo Superior de Investigaciones Científicas (CSIC), 28049 Madrid, Spain.
Amaranto M; Departamento de Química Biológica Ranwel Caputto, Centro de Investigaciones en Química Biológica de Córdoba, CONICET, Facultad de Ciencias Químicas, Universidad Nacional de Córdoba, Córdoba 5016, Argentina.
Godino A; Departamento de Química Biológica Ranwel Caputto, Centro de Investigaciones en Química Biológica de Córdoba, CONICET, Facultad de Ciencias Químicas, Universidad Nacional de Córdoba, Córdoba 5016, Argentina.
Mendoza R; Institut de Biotecnologia i de Biomedicina, Universitat Autònoma de Barcelona, Bellaterra, 08193 Barcelona, Spain.; Centro de Investigación Biomédica en Red en Bioingeniería, Biomateriales y Nanomedicina (CIBER-BBN), c/Monforte de Lemos 3-5, 28029 Madrid, Spain.
Barra JL; Departamento de Química Biológica Ranwel Caputto, Centro de Investigaciones en Química Biológica de Córdoba, CONICET, Facultad de Ciencias Químicas, Universidad Nacional de Córdoba, Córdoba 5016, Argentina.
Corchero JL; Institut de Biotecnologia i de Biomedicina, Universitat Autònoma de Barcelona, Bellaterra, 08193 Barcelona, Spain.; Centro de Investigación Biomédica en Red en Bioingeniería, Biomateriales y Nanomedicina (CIBER-BBN), c/Monforte de Lemos 3-5, 28029 Madrid, Spain.; Departament de Genètica i de Microbiologia, Universitat Autònoma de Barcelona, Bellaterra, 08193 Barcelona, Spain.
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Źródło :
International journal of molecular sciences [Int J Mol Sci] 2021 Jun 17; Vol. 22 (12). Date of Electronic Publication: 2021 Jun 17.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Genetic Predisposition to Disease*
Mutation*
Fabry Disease/*genetics
alpha-Galactosidase/*genetics
Alleles ; Animals ; Combined Modality Therapy/adverse effects ; Combined Modality Therapy/methods ; Disease Management ; Enzyme Activation ; Fabry Disease/diagnosis ; Fabry Disease/metabolism ; Fabry Disease/therapy ; Humans ; Structure-Activity Relationship ; Treatment Outcome ; alpha-Galactosidase/chemistry ; alpha-Galactosidase/metabolism
Czasopismo naukowe
Tytuł :
Functional Characterization of Two Novel Mutations in SCN5A Associated with Brugada Syndrome Identified in Italian Patients.
Autorzy :
Balla C; Cardiological Center, University of Ferrara, 44121 Ferrara, Italy.
Conte E; Department of Pharmacy-Drug Sciences, University of Bari 'Aldo Moro', 70125 Bari, Italy.
Selvatici R; Unit of Medical Genetics, Department of Medical Sciences, University of Ferrara, 44121 Ferrara, Italy.
Marsano RM; Department of Biology, University of Bari 'Aldo Moro', 70125 Bari, Italy.
Gerbino A; Department of Biosciences, Biotechnologies and Biopharmaceutics, University of Bari 'Aldo Moro', 70125 Bari, Italy.
Farnè M; Unit of Medical Genetics, Department of Medical Sciences, University of Ferrara, 44121 Ferrara, Italy.
Blunck R; Department of Physics, Université de Montréal, Montréal, QC H3C 3J7, Canada.
Vitali F; Cardiological Center, University of Ferrara, 44121 Ferrara, Italy.
Armaroli A; Unit of Medical Genetics, Department of Medical Sciences, University of Ferrara, 44121 Ferrara, Italy.
Brieda A; Cardiological Center, University of Ferrara, 44121 Ferrara, Italy.
Liantonio A; Department of Pharmacy-Drug Sciences, University of Bari 'Aldo Moro', 70125 Bari, Italy.
De Luca A; Department of Pharmacy-Drug Sciences, University of Bari 'Aldo Moro', 70125 Bari, Italy.
Ferlini A; Unit of Medical Genetics, Department of Medical Sciences, University of Ferrara, 44121 Ferrara, Italy.
Rapezzi C; Cardiological Center, University of Ferrara, 44121 Ferrara, Italy.; Maria Cecilia Hospital, GVM Care & Research, 48033 Cotignola, Italy.
Bertini M; Cardiological Center, University of Ferrara, 44121 Ferrara, Italy.
Gualandi F; Unit of Medical Genetics, Department of Medical Sciences, University of Ferrara, 44121 Ferrara, Italy.
Imbrici P; Department of Pharmacy-Drug Sciences, University of Bari 'Aldo Moro', 70125 Bari, Italy.
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Źródło :
International journal of molecular sciences [Int J Mol Sci] 2021 Jun 17; Vol. 22 (12). Date of Electronic Publication: 2021 Jun 17.
Typ publikacji :
Journal Article
MeSH Terms :
Genetic Association Studies*/methods
Genetic Predisposition to Disease*
Mutation*
Brugada Syndrome/*diagnosis
Brugada Syndrome/*genetics
NAV1.5 Voltage-Gated Sodium Channel/*genetics
Action Potentials ; Aged ; Aged, 80 and over ; Alleles ; Amino Acid Substitution ; Electrocardiography ; Female ; Genotype ; Humans ; Italy ; Male ; Models, Biological ; Models, Molecular ; NAV1.5 Voltage-Gated Sodium Channel/chemistry ; NAV1.5 Voltage-Gated Sodium Channel/metabolism ; Pedigree ; Phenotype ; Protein Conformation ; Protein Transport
Czasopismo naukowe
Tytuł :
Implications of ACMG guidelines to identify high-risk acute lymphoblastic leukemia patients with hereditary cancer susceptibility syndromes (HCSS) in a highly consanguineous population.
Autorzy :
Aslam S; Institute of Microbiology and Molecular Genetics, University of the Punjab, Lahore, 54590, Pakistan. .
Shabana; Institute of Microbiology and Molecular Genetics, University of the Punjab, Lahore, 54590, Pakistan. .
Ahmed M; Institute of Microbiology and Molecular Genetics, University of the Punjab, Lahore, 54590, Pakistan.
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Źródło :
BMC pediatrics [BMC Pediatr] 2021 Jun 16; Vol. 21 (1), pp. 282. Date of Electronic Publication: 2021 Jun 16.
Typ publikacji :
Journal Article
MeSH Terms :
Genetic Predisposition to Disease*
Precursor Cell Lymphoblastic Leukemia-Lymphoma*/diagnosis
Precursor Cell Lymphoblastic Leukemia-Lymphoma*/epidemiology
Precursor Cell Lymphoblastic Leukemia-Lymphoma*/genetics
Child ; Consanguinity ; Humans ; Pakistan/epidemiology ; Syndrome ; United States
Czasopismo naukowe
Tytuł :
Shifting epigenetic contexts influence regulatory variation and disease risk.
Autorzy :
Richard D; Department of Human Evolutionary Biology, Harvard University, Cambridge, MA 02138, USA.
Capellini TD; Department of Human Evolutionary Biology, Harvard University, Cambridge, MA 02138, USA.; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
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Źródło :
Aging [Aging (Albany NY)] 2021 Jun 16; Vol. 13 (12), pp. 15699-15749. Date of Electronic Publication: 2021 Jun 16.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Epigenesis, Genetic*
Genetic Predisposition to Disease*
Genetic Variation*
Aging/genetics ; Base Sequence ; Chromatin/metabolism ; Genetic Loci ; Genome, Human ; Genome-Wide Association Study ; Humans ; Quantitative Trait, Heritable ; Risk Factors
Czasopismo naukowe
Tytuł :
Novel TTLL5 Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal Dystrophy.
Autorzy :
Smirnov V; Université de Lille, Faculté de Médecine, 59037 Lille, France.; CHU Lille, Service d'Exploration Fonctionnelle de la Vision et de Neuro-Ophtalmologie, Hôpital Salengro, 59037 Lille, France.; Sorbonne Université, INSERM, CNRS, Institut de la Vision, 75012 Paris, France.
Grunewald O; Univ. Lille, Inserm, CHU Lille, U1172-LilNCog-Lille Neuroscience & Cognition, 59045 Lille, France.
Muller J; Laboratoire de Génétique Médicale, Institut de Génétique Médicale d'Alsace (IGMA), INSERM U1112, Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg UMRS_1112, 67000 Strasbourg, France.; Laboratoire de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, Institut de Génétique Médicale d'Alsace (IGMA), 67000 Strasbourg, France.
Zeitz C; Sorbonne Université, INSERM, CNRS, Institut de la Vision, 75012 Paris, France.
Obermaier CD; Praxis für Humangenetik Tuebingen & Center for Genomics and Transcriptomics, CeGaT GmbH, 72076 Tuebingen, Germany.
Devos A; Univ. Lille, CHU Lille, Service de Toxicologie et Génopathies, 59037 Lille, France.
Pelletier V; Centre de Référence pour les Affections Rares en Génétique Ophtalmologiques, Hopitaux Universitaires de Strasbourg, 67000 Strasbourg, France.
Bocquet B; National Reference Centre for Inherited Sensory Diseases, University of Montpellier, Montpellier University Hospital, Sensgene Care Network, ERN-EYE Network, 34295 Montpellier, France.; Institute for Neurosciences of Montpellier (INM), INSERM, University of Montpellier, INSERM, 34295 Montpellier, France.
Andrieu C; Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, INSERM-DHOS CIC 1423, 75012 Paris, France.
Bacquet JL; Centre de Référence pour les Affections Rares en Génétique Ophtalmologiques, Hopitaux Universitaires de Strasbourg, 67000 Strasbourg, France.
Lebredonchel E; Univ. Lille, CHU Lille, Service de Toxicologie et Génopathies, 59037 Lille, France.
Mohand-Saïd S; Sorbonne Université, INSERM, CNRS, Institut de la Vision, 75012 Paris, France.; Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, INSERM-DHOS CIC 1423, 75012 Paris, France.
Defoort-Dhellemmes S; CHU Lille, Service d'Exploration Fonctionnelle de la Vision et de Neuro-Ophtalmologie, Hôpital Salengro, 59037 Lille, France.
Sahel JA; Sorbonne Université, INSERM, CNRS, Institut de la Vision, 75012 Paris, France.; Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, INSERM-DHOS CIC 1423, 75012 Paris, France.; Fondation Ophtalmologique Adolphe de Rothschild, 75019 Paris, France.; Department of Ophthalmology, The University of Pittsburgh School of Medicine, Pittsburgh, PA 15213, USA.
Dollfus H; Centre de Référence pour les Affections Rares en Génétique Ophtalmologiques, Hopitaux Universitaires de Strasbourg, 67000 Strasbourg, France.
Zanlonghi X; Service d'Ophtalmologie, CHU de Rennes, 35000 Rennes, France.
Audo I; Sorbonne Université, INSERM, CNRS, Institut de la Vision, 75012 Paris, France.; Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, INSERM-DHOS CIC 1423, 75012 Paris, France.; Institute of Ophthalmology, University College London, London EC1V 9EL, UK.
Meunier I; National Reference Centre for Inherited Sensory Diseases, University of Montpellier, Montpellier University Hospital, Sensgene Care Network, ERN-EYE Network, 34295 Montpellier, France.; Institute for Neurosciences of Montpellier (INM), INSERM, University of Montpellier, INSERM, 34295 Montpellier, France.
Boulanger-Scemama E; Fondation Ophtalmologique Adolphe de Rothschild, 75019 Paris, France.
Dhaenens CM; Univ. Lille, Inserm, CHU Lille, U1172-LilNCog-Lille Neuroscience & Cognition, 59045 Lille, France.
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Źródło :
International journal of molecular sciences [Int J Mol Sci] 2021 Jun 15; Vol. 22 (12). Date of Electronic Publication: 2021 Jun 15.
Typ publikacji :
Journal Article
MeSH Terms :
Genetic Association Studies*
Genetic Predisposition to Disease*
Carrier Proteins/*genetics
Cone-Rod Dystrophies/*genetics
Eye Diseases, Hereditary/*genetics
Mutation/*genetics
Retinal Dystrophies/*genetics
Adult ; Aged ; Child ; Chromosome Breakpoints ; Computer Simulation ; Cone-Rod Dystrophies/physiopathology ; DNA Copy Number Variations/genetics ; Electroretinography ; Eye Diseases, Hereditary/physiopathology ; Female ; Genotype ; Humans ; Male ; Middle Aged ; Phenotype ; Retinal Dystrophies/physiopathology
SCR Disease Name :
Retinal Dystrophy, Early Onset Severe
Czasopismo naukowe
Tytuł :
Genetic Variants of SARS-CoV-2: What Do We Know So Far?
Autorzy :
Jamil S
Shafazand S
Pasnick S
Carlos WG
Maves R
Cruz CD
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Źródło :
American journal of respiratory and critical care medicine [Am J Respir Crit Care Med] 2021 Jun 15; Vol. 203 (12), pp. P30-P32.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Genetic Predisposition to Disease*
COVID-19/*virology
RNA, Viral/*genetics
SARS-CoV-2/*genetics
COVID-19/epidemiology ; Genetic Variation ; Humans
Czasopismo naukowe
Tytuł :
Association between Predicted Effects of TP53 Missense Variants on Protein Conformation and Their Phenotypic Presentation as Li-Fraumeni Syndrome or Hereditary Breast Cancer.
Autorzy :
Liu Y; Department of Oncology-Pathology, Karolinska Institutet, Bioclinicum, Karolinska University Hospital, 17164 Stockholm, Sweden.
Axell O; Department of Oncology-Pathology, Karolinska Institutet, Bioclinicum, Karolinska University Hospital, 17164 Stockholm, Sweden.
van Leeuwen T; Department of Laboratory Medicine, Division of Biomolecular and Cellular Medicine, Karolinska Institutet, 17177 Stockholm, Sweden.
Konrat R; Christian Doppler Laboratory for High-Content Structural Biology and Biotechnology, Department of Structural and Computational Biology, Max F. Perutz Laboratories, University of Vienna, 1030 Vienna, Austria.
Kharaziha P; Department of Oncology-Pathology, Karolinska Institutet, Bioclinicum, Karolinska University Hospital, 17164 Stockholm, Sweden.
Larsson C; Department of Oncology-Pathology, Karolinska Institutet, Bioclinicum, Karolinska University Hospital, 17164 Stockholm, Sweden.
Wright APH; Department of Laboratory Medicine, Division of Biomolecular and Cellular Medicine, Karolinska Institutet, 17177 Stockholm, Sweden.
Bajalica-Lagercrantz S; Department of Oncology-Pathology, Karolinska Institutet, Bioclinicum, Karolinska University Hospital, 17164 Stockholm, Sweden.
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Źródło :
International journal of molecular sciences [Int J Mol Sci] 2021 Jun 14; Vol. 22 (12). Date of Electronic Publication: 2021 Jun 14.
Typ publikacji :
Journal Article
MeSH Terms :
Genetic Association Studies*
Genetic Predisposition to Disease*
Breast Neoplasms/*genetics
Li-Fraumeni Syndrome/*genetics
Mutation, Missense/*genetics
Tumor Suppressor Protein p53/*chemistry
Tumor Suppressor Protein p53/*genetics
Amino Acid Sequence ; Female ; Germ-Line Mutation/genetics ; Humans ; Logistic Models ; Multivariate Analysis ; Phenotype ; Protein Conformation
SCR Disease Name :
Breast Cancer, Familial
Czasopismo naukowe

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