Temat: "Genetic Predisposition to Disease" - OpacWWW

Skocz do pozycji: 1.

Tytuł:: Association between a single nucleotide polymorphism of the ALOX5 gene and susceptibility to multisystem tuberculosis in a Chinese Han population.
Autorzy:: Zhang J; Department of Respiratory and Critical Care Medicine, West China Hospital of Sichuan University, No.37, Guo Xue Alley, Chengdu, 610041, Sichuan Province, People's Republic of China; Intensive Care Unit, Deyang People's Hospital, No 173, North Taishan Road, Deyang, 618000, Sichuan Province, People's Republic of China.
Wang MG; Department of Respiratory and Critical Care Medicine, West China Hospital of Sichuan University, No.37, Guo Xue Alley, Chengdu, 610041, Sichuan Province, People's Republic of China.
He JQ; Department of Respiratory and Critical Care Medicine, West China Hospital of Sichuan University, No.37, Guo Xue Alley, Chengdu, 610041, Sichuan Province, People's Republic of China. Electronic address: jianqing_.; Pokaż więcej
Źródło:: Microbial pathogenesis [Microb Pathog] 2023 Oct; Vol. 183, pp. 106289. Date of Electronic Publication: 2023 Aug 09.
Typ publikacji:: Journal Article
MeSH Terms:: East Asian People*/ethnology
East Asian People*/genetics
Genetic Predisposition to Disease*/ethnology
Genetic Predisposition to Disease*/genetics
Tuberculosis*/genetics
Tuberculosis*/metabolism
Humans ; Arachidonate 5-Lipoxygenase/genetics ; Case-Control Studies ; China ; Gene Frequency ; Genotype ; Polymorphism, Single Nucleotide ; Tuberculosis, Pulmonary/genetics

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Szczegóły

Skocz do pozycji: 2.

Tytuł:: Association analysis of MTHFR (rs1801133 and rs1801131) and MTRR (rs1801394) gene polymorphisms towards the development of hypertension in the Bai population from Yunnan, China.
Autorzy:: Liu Y; School of Basic Medicine, Dali University, Dali, Yunnan, China.
Xu C; School of Basic Medicine, Dali University, Dali, Yunnan, China.
Wang Y; School of Basic Medicine, Dali University, Dali, Yunnan, China.
Yang C; School of Basic Medicine, Dali University, Dali, Yunnan, China.
Pu G; School of Basic Medicine, Dali University, Dali, Yunnan, China.
Zhang L; School of Basic Medicine, Dali University, Dali, Yunnan, China.
Wang Z; School of Basic Medicine, Dali University, Dali, Yunnan, China.
Tao P; School of Basic Medicine, Dali University, Dali, Yunnan, China.
Hu S; Laboratory Department, The First Affiliated Hospital of Dali University, Dali, Yunnan, China.
Lai M; School of Basic Medicine, Dali University, Dali, Yunnan, China.; Pokaż więcej
Źródło:: Clinical and experimental hypertension (New York, N.Y. : 1993) [Clin Exp Hypertens] 2023 Dec 31; Vol. 45 (1), pp. 2206066.
Typ publikacji:: Journal Article
MeSH Terms:: Genetic Predisposition to Disease*
Hypertension*/genetics
Humans ; Case-Control Studies ; China/epidemiology ; Folic Acid/metabolism ; Genotype ; Methylenetetrahydrofolate Reductase (NADPH2)/genetics ; Polymorphism, Genetic ; Polymorphism, Single Nucleotide

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Skocz do pozycji: 3.

Tytuł:: Prostate cancer genetic risk and associated aggressive disease in men of African ancestry.
Autorzy:: Soh PXY; Ancestry and Health Genomics Laboratory, Charles Perkins Centre, School of Medical Sciences, Faculty of Medicine and Health, University of Sydney, Camperdown, NSW, 2006, Australia.
Mmekwa N; School of Health Systems and Public Health, University of Pretoria, Pretoria, South Africa.
Petersen DC; South African Medical Research Council Centre for Tuberculosis Research, Division of Molecular Biology and Human Genetics, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa.
Gheybi K; Ancestry and Health Genomics Laboratory, Charles Perkins Centre, School of Medical Sciences, Faculty of Medicine and Health, University of Sydney, Camperdown, NSW, 2006, Australia.
van Zyl S; Faculty of Health Sciences, University of Limpopo, Turfloop Campus, South Africa.
Jiang J; Ancestry and Health Genomics Laboratory, Charles Perkins Centre, School of Medical Sciences, Faculty of Medicine and Health, University of Sydney, Camperdown, NSW, 2006, Australia.
Patrick SM; School of Health Systems and Public Health, University of Pretoria, Pretoria, South Africa.
Campbell R; Phulukisa health Care, Pretoria, South Africa.
Jaratlerdseri W; Ancestry and Health Genomics Laboratory, Charles Perkins Centre, School of Medical Sciences, Faculty of Medicine and Health, University of Sydney, Camperdown, NSW, 2006, Australia.
Mutambirwa SBA; Department of Urology, Sefako Makgatho Health Science University, Dr George Mukhari Academic Hospital, Medunsa, South Africa.
Bornman MSR; School of Health Systems and Public Health, University of Pretoria, Pretoria, South Africa.
Hayes VM; Ancestry and Health Genomics Laboratory, Charles Perkins Centre, School of Medical Sciences, Faculty of Medicine and Health, University of Sydney, Camperdown, NSW, 2006, Australia. .; School of Health Systems and Public Health, University of Pretoria, Pretoria, South Africa. .; Faculty of Health Sciences, University of Limpopo, Turfloop Campus, South Africa. .; Manchester Cancer Research Centre, University of Manchester, Manchester, M20 4GJ, UK. .; Pokaż więcej
Źródło:: Nature communications [Nat Commun] 2023 Dec 05; Vol. 14 (1), pp. 8037. Date of Electronic Publication: 2023 Dec 05.
Typ publikacji:: Journal Article
MeSH Terms:: Genetic Predisposition to Disease*
Prostatic Neoplasms*/pathology
Male ; Humans ; Black People/genetics ; Risk Factors ; Aggression

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Skocz do pozycji: 4.

Tytuł:: Assessment of HER1 (rs11543848) and HER2 (rs1136201) polymorphism and their association with colorectal cancer susceptibility in Khyber Pakhtunkhwa, Pakistan.
Autorzy:: Ullah A; Institute of Biotechnology and Genetic Engineering (Health Division), The University of Agriculture Peshawar, Peshawar, Pakistan.
Khan BM; School of Medicine, Jiangsu University, Zhejiang, China.
Khan NU; Institute of Biotechnology and Genetic Engineering (Health Division), The University of Agriculture Peshawar, Peshawar, Pakistan. .
Muntaha ST; Institute of Biotechnology and Genetic Engineering (Health Division), The University of Agriculture Peshawar, Peshawar, Pakistan.
Khan S; Institute of Radiotherapy and Nuclear Medicine (IRNUM), Peshawar, Pakistan.
Khan AU; Institute of Radiotherapy and Nuclear Medicine (IRNUM), Peshawar, Pakistan.
Almutairi MH; Zoology Department, College of Science, King Saud University, P.O. Box: 2455, Riyadh, 11451, Saudi Arabia.
Ali I; Centre for Applied Mathematics and Bioinformatics (CAMB), Gulf University for Science and Technology, Hawally, Kuwait.; Pokaż więcej
Źródło:: Molecular biology reports [Mol Biol Rep] 2023 Dec 01; Vol. 51 (1), pp. 1. Date of Electronic Publication: 2023 Dec 01.
Typ publikacji:: Journal Article
MeSH Terms:: Genetic Predisposition to Disease*
Colorectal Neoplasms*/pathology
Humans ; Pakistan ; Genotype ; Polymorphism, Single Nucleotide/genetics ; Case-Control Studies

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Szczegóły

Skocz do pozycji: 5.

Tytuł:: Associations of polysocial risk score, lifestyle and genetic factors with incident psoriasis: a larger-scale prospective cohort study.
Autorzy:: Tian R; Department of Dermatology, First Affiliated Hospital of Kunming Medical University, Kunming, China.
He Q; Department of Epidemiology and Biostatistics, School of Public Health, Medical College of Soochow University, 199 Renai Road, Suzhou City, Jiangsu Province, China.
Yang Y; Department of Health Statistics, School of Public Health, Weifang Medical University, Weifang, Shandong, China.
Nong X; Department of Dermatology, First Affiliated Hospital of Kunming Medical University, Kunming, China. Electronic address: .
Wang S; Department of Health Statistics, School of Public Health, Weifang Medical University, Weifang, Shandong, China. Electronic address: .; Pokaż więcej
Źródło:: Public health [Public Health] 2023 Dec; Vol. 225, pp. 320-326. Date of Electronic Publication: 2023 Nov 14.
Typ publikacji:: Journal Article
MeSH Terms:: Genetic Predisposition to Disease*/epidemiology
Psoriasis*/epidemiology
Psoriasis*/genetics
Humans ; Prospective Studies ; Risk Factors ; Life Style

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Skocz do pozycji: 6.

Tytuł:: Beyond familial risk: deriving risk-adapted starting ages of screening among people with a family history of colorectal cancer.
Autorzy:: Chen X; Division of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ), Heidelberg, Germany.; Medical Faculty Heidelberg, Heidelberg University, Heidelberg, Germany.
Heisser T; Division of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Cardoso R; Division of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Hibbert J; Division of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ), Heidelberg, Germany.; Medical Faculty Heidelberg, Heidelberg University, Heidelberg, Germany.
Hoffmeister M; Division of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Brenner H; Division of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ), Heidelberg, Germany.; Division of Preventive Oncology, German Cancer Research Center (DKFZ) and National Center for Tumor Diseases (NCT), Heidelberg, Germany.; German Cancer Consortium (DKTK), German Cancer Research Center (DKFZ), Heidelberg, Germany.; Pokaż więcej
Źródło:: Cancer communications (London, England) [Cancer Commun (Lond)] 2023 Dec; Vol. 43 (12), pp. 1377-1380. Date of Electronic Publication: 2023 Oct 24.
Typ publikacji:: Letter
MeSH Terms:: Genetic Predisposition to Disease*
Colorectal Neoplasms*/diagnosis
Colorectal Neoplasms*/genetics
Humans ; Early Detection of Cancer ; Risk Assessment

Opinia redakcyjna

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Szczegóły

Skocz do pozycji: 7.

Tytuł:: The body mass index increases the genetic risk scores' ability to predict risk of hepatic damage in European adolescents: The HELENA study.
Autorzy:: Seral-Cortes M; Growth, Exercise, Nutrition and Development (GENUD) Research Group, Faculty of Health Sciences, Instituto Agroalimentario de Aragón (IA2), Instituto de Investigación Sanitaria Aragón (IIS Aragón), Universidad de Zaragoza, Zaragoza, Spain.; CIBER Fisiopatología de la Obesidad y Nutrición (CIBERobn), Instituto de Salud Carlos III, Madrid, Spain.
Sabroso-Lasa S; Genetic and Molecular Epidemiology Group (GMEG), Spanish National Cancer Research Centre (CNIO), Madrid, Spain.
Gonzalez-Gross M; CIBER Fisiopatología de la Obesidad y Nutrición (CIBERobn), Instituto de Salud Carlos III, Madrid, Spain.; ImFine Research Group, Department of Health and Human Performance, Facultad de Ciencias de la Actividad Física y del Deporte-INEF, Universidad Politécnica de Madrid, Madrid, Spain.; Institute of Nutritional and Food Sciences, Nutritional Physiology, University of Bonn, Bonn, Germany.
Quesada-Gonzalez C; ImFine Research Group, Department of Health and Human Performance, Facultad de Ciencias de la Actividad Física y del Deporte-INEF, Universidad Politécnica de Madrid, Madrid, Spain.; Department of Applied Mathematics to Information and Communication Technologies, Universidad Politécnica de Madrid, Madrid, Spain.
Stehle P; Institute of Nutritional and Food Sciences, Nutritional Physiology, University of Bonn, Bonn, Germany.
Gottrand F; CHU Lille, Inserm U1286 INFINITE, University of Lille, Lille, France.
Marcos A; CIBER Fisiopatología de la Obesidad y Nutrición (CIBERobn), Instituto de Salud Carlos III, Madrid, Spain.; Immunonutrition Group, Department of Metabolism and Nutrition, Institute of Food Science, Technology and Nutrition (ICTAN), Spanish National Research Council (CSIC), Madrid, Spain.
Esperanza-Diaz L; Immunonutrition Group, Department of Metabolism and Nutrition, Institute of Food Science, Technology and Nutrition (ICTAN), Spanish National Research Council (CSIC), Madrid, Spain.
Manios Y; Department of Nutrition and Dietetics, School of Health Science & Education, Harokopio University, Athens, Greece.; Institute of Agri-food and Life Sciences, Hellenic Mediterranean University Research Centre, Heraklion, Greece.
Androutsos O; Lab of Clinical Nutrition and Dietetics, Department of Nutrition and Dietetics, School of Physical Education, Sport Science and Dietetics, University of Thessaly, Trikala, Greece.
Widhalm K; Division of Clinical Nutrition and Prevention, Department of Paediatrics, Medical University of Vienna, Vienna, Austria.; Austrian Academic Institute for Clinical Nutrition, Vienna, Austria.
Molnar D; Department of Pediatrics, Medical School, University of Pécs, Pécs, Hungary.
Huybrechts I; International Agency for Research on Cancer, World Health Organization, Lyon, France.; French Network for Nutrition and Cancer Research (NACRe network), Jouy-en-Josas, France.
Muntaner M; UMR1167, RID-AGE, Risk Factors and Molecular Determinants of Aging-Related Diseases, Centre Hosp, Institut Pasteur de Lille, Université de Lille, Lille, France.
Meirhaeghe A; UMR1167, RID-AGE, Risk Factors and Molecular Determinants of Aging-Related Diseases, Centre Hosp, Institut Pasteur de Lille, Université de Lille, Lille, France.
Salazar-Tortosa D; Department of Ecology and Evolutionary Biology, University of Arizona, Tucson, Arizona, USA.
Ruiz JR; CIBER Fisiopatología de la Obesidad y Nutrición (CIBERobn), Instituto de Salud Carlos III, Madrid, Spain.; Department of Physical Education and Sports, Faculty of Sports Science, Sport and Health University Research Institute (iMUDS), Granada, Spain.; Instituto de Investigación Biosanitaria, ibs.Granada, Granada, Spain.
Esteban LM; Escuela Politécnica de La Almunia, Universidad de Zaragoza, Zaragoza, Spain.
Labayen I; CIBER Fisiopatología de la Obesidad y Nutrición (CIBERobn), Instituto de Salud Carlos III, Madrid, Spain.; Department of Health Sciences, Public University of Navarra, Pamplona, Spain.
Moreno LA; Growth, Exercise, Nutrition and Development (GENUD) Research Group, Faculty of Health Sciences, Instituto Agroalimentario de Aragón (IA2), Instituto de Investigación Sanitaria Aragón (IIS Aragón), Universidad de Zaragoza, Zaragoza, Spain.; CIBER Fisiopatología de la Obesidad y Nutrición (CIBERobn), Instituto de Salud Carlos III, Madrid, Spain.; Pokaż więcej
Corporate Authors:: HELENA study group
Źródło:: European journal of clinical investigation [Eur J Clin Invest] 2023 Dec; Vol. 53 (12), pp. e14081. Date of Electronic Publication: 2023 Aug 22.
Typ publikacji:: Journal Article
MeSH Terms:: Genetic Predisposition to Disease*
Polymorphism, Single Nucleotide*
Male ; Female ; Humans ; Adolescent ; Body Mass Index ; Risk Factors ; Alleles ; Europe/epidemiology

Czasopismo naukowe

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Szczegóły

Skocz do pozycji: 8.

Tytuł:: NTHL1 is a recessive cancer susceptibility gene.
Autorzy:: Nurmi AK; Department of Obstetrics and Gynecology, University of Helsinki and Helsinki University Hospital, Biomedicum Helsinki, P.O. Box 700, 00290, Helsinki, Finland.
Pelttari LM; Department of Obstetrics and Gynecology, University of Helsinki and Helsinki University Hospital, Biomedicum Helsinki, P.O. Box 700, 00290, Helsinki, Finland.
Kiiski JI; Department of Obstetrics and Gynecology, University of Helsinki and Helsinki University Hospital, Biomedicum Helsinki, P.O. Box 700, 00290, Helsinki, Finland.
Khan S; Department of Obstetrics and Gynecology, University of Helsinki and Helsinki University Hospital, Biomedicum Helsinki, P.O. Box 700, 00290, Helsinki, Finland.
Nurmikolu M; Department of Obstetrics and Gynecology, University of Helsinki and Helsinki University Hospital, Biomedicum Helsinki, P.O. Box 700, 00290, Helsinki, Finland.
Suvanto M; Department of Obstetrics and Gynecology, University of Helsinki and Helsinki University Hospital, Biomedicum Helsinki, P.O. Box 700, 00290, Helsinki, Finland.
Aho N; Department of Obstetrics and Gynecology, University of Helsinki and Helsinki University Hospital, Biomedicum Helsinki, P.O. Box 700, 00290, Helsinki, Finland.
Tasmuth T; Department of Anaesthesiology, Intensive Care and Pain Medicine, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
Kalso E; Department of Anaesthesiology, Intensive Care and Pain Medicine, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
Schleutker J; Institute of Biomedicine, University of Turku, and FICAN West Cancer Centre, and Department of Genomics, Laboratory Division, Turku University Hospital, Turku, Finland.
Kallioniemi A; Tays Cancer Center, Tampere University Hospital, and BioMediTech Institute and Faculty of Medicine and Health Technology, Tampere University, and Fimlab Laboratories, Tampere, Finland.
Heikkilä P; Department of Pathology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
Aittomäki K; Department of Clinical Genetics, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
Blomqvist C; Department of Oncology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
Nevanlinna H; Department of Obstetrics and Gynecology, University of Helsinki and Helsinki University Hospital, Biomedicum Helsinki, P.O. Box 700, 00290, Helsinki, Finland. .; Pokaż więcej
Corporate Authors:: FinnGen
Źródło:: Scientific reports [Sci Rep] 2023 Nov 30; Vol. 13 (1), pp. 21127. Date of Electronic Publication: 2023 Nov 30.
Typ publikacji:: Journal Article
MeSH Terms:: Genetic Predisposition to Disease*
Breast Neoplasms*/genetics
Humans ; Female ; Heterozygote ; Breast ; Finland ; Deoxyribonuclease (Pyrimidine Dimer)/genetics

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Skocz do pozycji: 9.

Tytuł:: MIR938 rs2505901 T>C polymorphism is associated with increased neuroblastoma risk in Chinese children.
Autorzy:: Jiang S; Department of Child and Adolescent Health, School of Public Health, Guangdong Pharmaceutical University, Guangzhou, Guangdong Province 510006, China.; Department of Pediatric Surgery, Guangzhou Institute of Pediatrics, Guangdong Provincial Key Laboratory of Research in Structural Birth Defect Disease, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou 510623, Guangdong, China.
Sun X; Department of Medical Ultrasonics, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou 510623, Guangdong, China.
Zhang X; Department of Pediatric Surgery, Guangzhou Institute of Pediatrics, Guangdong Provincial Key Laboratory of Research in Structural Birth Defect Disease, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou 510623, Guangdong, China.
Zhou C; Department of Pathology, Children's Hospital of Nanjing Medical University, Nanjing 210008, Jiangsu, China.
Wu H; Department of Pathology, Children's Hospital of Nanjing Medical University, Nanjing 210008, Jiangsu, China.
He J; Department of Child and Adolescent Health, School of Public Health, Guangdong Pharmaceutical University, Guangzhou, Guangdong Province 510006, China.; Department of Pediatric Surgery, Guangzhou Institute of Pediatrics, Guangdong Provincial Key Laboratory of Research in Structural Birth Defect Disease, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou 510623, Guangdong, China.
Yang W; Department of Child and Adolescent Health, School of Public Health, Guangdong Pharmaceutical University, Guangzhou, Guangdong Province 510006, China.; Pokaż więcej
Źródło:: Bioscience reports [Biosci Rep] 2023 Nov 30; Vol. 43 (11).
Typ publikacji:: Journal Article
MeSH Terms:: Genetic Predisposition to Disease*
MicroRNAs*/genetics
Neuroblastoma*/epidemiology
Neuroblastoma*/genetics
Neuroblastoma*/pathology
Female ; Humans ; Infant ; Male ; Case-Control Studies ; East Asian People ; Genotype ; Polymorphism, Single Nucleotide ; Risk Factors

Czasopismo naukowe

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Szczegóły

Skocz do pozycji: 10.

Tytuł:: Association study for the role of MMP8 gene polymorphisms in Colorectal cancer susceptibility.
Autorzy:: Yu S; Department of Gastrointestinal Surgery IV, Hainan Cancer Hospital, 570100, Haikou, Hainan, China.
Cheng J; Department of Gastrointestinal Surgery IV, Hainan Cancer Hospital, 570100, Haikou, Hainan, China.
Li P; Department of Digestive Endoscopy, Hainan Cancer Hospital, 570100, Haikou, Hainan, China.
Tian L; Department of Digestive Endoscopy, Hainan Cancer Hospital, 570100, Haikou, Hainan, China.
Chen Z; Department of Gastroenterology, Hainan Cancer Hospital, 570100, Haikou, Hainan, China.
Chen Z; Department of Gastroenterology, Hainan Cancer Hospital, 570100, Haikou, Hainan, China.
Li Y; Department of Gastroenterology, Hainan Cancer Hospital, 570100, Haikou, Hainan, China.
Song J; Department of Gastroenterology, Southern University of Science and Technology Hospital, No. 6019 Liuxian Avenue, Nanshan District, 518000, Shenzhen, Guangdong, China. .; Pokaż więcej
Źródło:: BMC cancer [BMC Cancer] 2023 Nov 29; Vol. 23 (1), pp. 1169. Date of Electronic Publication: 2023 Nov 29.
Typ publikacji:: Journal Article
MeSH Terms:: Genetic Predisposition to Disease*
Colorectal Neoplasms*/genetics
Female ; Humans ; Genotype ; Matrix Metalloproteinase 8/genetics ; Polymorphism, Single Nucleotide ; Risk Factors ; Case-Control Studies

Czasopismo naukowe

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Skocz do pozycji: 11.

Tytuł:: Association between 14 candidate genes, PM2.5, and affective disorders: a study of the Taiwan Biobank.
Autorzy:: Ma KJ; Department of Public Health, China Medical University, Taichung, Taiwan.
Lin YJ; Department of Administration, China Medical University Hospital, Taichung, Taiwan.
Liu CS; Department of Family Medicine, China Medical University Hospital, Taichung, Taiwan.; Department of Medicine, China Medical University, Taichung, Taiwan.
Tseng PY; Department of Public Health, China Medical University, Taichung, Taiwan.; Department of Medical, Lee's General Hospital, Yuanli Town, Miaoli, Taiwan.
Wang SH; Interdisciplinary Freshmen Program of Public Health, China Medical University, Taichung, Taiwan.
Yao CY; Attending physician Department of psychiatry, An-nan hospital, Tainan, Taiwan. .
Wang JY; Department of Health Services Administration, China Medical University, Taichung, Taiwan. .; Pokaż więcej
Źródło:: BMC public health [BMC Public Health] 2023 Nov 27; Vol. 23 (1), pp. 2346. Date of Electronic Publication: 2023 Nov 27.
Typ publikacji:: Journal Article
MeSH Terms:: Genetic Predisposition to Disease*
Biological Specimen Banks*
Humans ; Retrospective Studies ; Longitudinal Studies ; Taiwan/epidemiology ; Calcium Channels, L-Type/genetics ; Mood Disorders ; Polymorphism, Single Nucleotide ; Particulate Matter/adverse effects ; Genome-Wide Association Study

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Skocz do pozycji: 12.

Tytuł:: RTEL1 gene polymorphisms and neuroblastoma risk in Chinese children.
Autorzy:: Zhang T; Department of Clinical Laboratory, The Affiliated Wenling Hospital of Wenzhou Medical University, Taizhou, 317500, Zhejiang, China.
Zhou C; Department of Pathology, Children's Hospital of Nanjing Medical University, 72 Guangzhou Road, Nanjing, 210008, Jiangsu, China.
Guo J; Department of Clinical Laboratory, The Affiliated Wenling Hospital of Wenzhou Medical University, Taizhou, 317500, Zhejiang, China.
Chang J; Department of Pediatric Surgery, Guangzhou Institute of Pediatrics, Guangdong Provincial Key Laboratory of Research in Structural Birth Defect Disease, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangdong Provincial Clinical Research Center for Child Health, 9 Jinsui Road, Guangzhou, 510623, Guangdong, China.
Wu H; Department of Pathology, Children's Hospital of Nanjing Medical University, 72 Guangzhou Road, Nanjing, 210008, Jiangsu, China. .
He J; Department of Clinical Laboratory, The Affiliated Wenling Hospital of Wenzhou Medical University, Taizhou, 317500, Zhejiang, China. .; Department of Pediatric Surgery, Guangzhou Institute of Pediatrics, Guangdong Provincial Key Laboratory of Research in Structural Birth Defect Disease, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangdong Provincial Clinical Research Center for Child Health, 9 Jinsui Road, Guangzhou, 510623, Guangdong, China. .; Pokaż więcej
Źródło:: BMC cancer [BMC Cancer] 2023 Nov 24; Vol. 23 (1), pp. 1145. Date of Electronic Publication: 2023 Nov 24.
Typ publikacji:: Journal Article
MeSH Terms:: Genetic Predisposition to Disease*
Neuroblastoma*/genetics
Neuroblastoma*/pathology
Male ; Female ; Humans ; Child ; East Asian People ; Genotype ; Polymorphism, Single Nucleotide ; Case-Control Studies ; DNA Helicases/genetics

Czasopismo naukowe

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Skocz do pozycji: 13.

Tytuł:: Can polygenic risk scores help explain disease prevalence differences around the world? A worldwide investigation.
Autorzy:: Jain PR; Department of Biological Sciences, Purdue University, West Lafayette, IN, USA.
Burch M; Department of Computer Sciences, Purdue University, West Lafayette, IN, USA.
Martinez M; Department of Biological Sciences, Purdue University, West Lafayette, IN, USA.
Mir P; Unidad de Trastornos del Movimiento, Instituto de Biomedicina de Sevilla (IBiS). Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Seville, Spain.; Centro de Investigación Biomédica en Red Sobre Enfermedades Neurodegenerativas (CIBERNED), Madrid, Spain.
Fichna JP; Department of Biological Sciences, Purdue University, West Lafayette, IN, USA.; Department of Neurogenetics and Functional Genomics, Mossakowski Medical Research Institute, Polish Academy of Sciences, Warsaw, Poland.
Zekanowski C; Department of Neurogenetics and Functional Genomics, Mossakowski Medical Research Institute, Polish Academy of Sciences, Warsaw, Poland.
Rizzo R; Child and Adolescent Neurology and Psychiatry, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy.
Tümer Z; Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
Barta C; Department of Molecular Biology, Institute of Biochemistry and Molecular Biology, Semmelweis University, Budapest, Hungary.
Yannaki E; Hematology Department- Hematopoietic Cell Transplantation Unit, Gene and Cell Therapy Center, George Papanikolaou Hospital, Thessaloniki, Greece.; Department of Medicine, University of Washington, Seattle, WA, USA.
Stamatoyannopoulos J; Altius Institute for Biomedical Sciences, Seattle, WA, USA.; Department of Genome Sciences, University of Washington, Seattle, WA, USA.; Department of Medicine, Division of Oncology, University of Washington, Seattle, WA, USA.
Drineas P; Department of Computer Sciences, Purdue University, West Lafayette, IN, USA.
Paschou P; Department of Biological Sciences, Purdue University, West Lafayette, IN, USA. .; Pokaż więcej
Źródło:: BMC genomic data [BMC Genom Data] 2023 Nov 20; Vol. 24 (1), pp. 70. Date of Electronic Publication: 2023 Nov 20.
Typ publikacji:: Journal Article; Research Support, U.S. Gov't, Non-P.H.S.
MeSH Terms:: Genetic Predisposition to Disease*/genetics
Genome-Wide Association Study*/methods
Humans ; Prevalence ; Risk Factors ; Multifactorial Inheritance/genetics

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Skocz do pozycji: 14.

Tytuł:: Genetic determinants of severe COVID-19 in young Asian and Middle Eastern patients: a case series.
Autorzy:: Badla BA; College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai Health, Dubai, UAE.
Hanifa MS; College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai Health, Dubai, UAE.
Jain R; Al Jalila Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai Health, Dubai, UAE.
Naofal ME; Al Jalila Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai Health, Dubai, UAE.
Halabi N; Al Jalila Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai Health, Dubai, UAE.
Yaslam S; Al Jalila Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai Health, Dubai, UAE.
Ramaswamy S; Al Jalila Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai Health, Dubai, UAE.
Taylor A; Al Jalila Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai Health, Dubai, UAE.
Alfalasi R; Al Jalila Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai Health, Dubai, UAE.
Shenbagam S; Al Jalila Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai Health, Dubai, UAE.
Khansaheb H; Medical Education and Research Department, Dubai Health, Dubai, UAE.
Al Suwaidi H; College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai Health, Dubai, UAE.
Nowotny N; College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai Health, Dubai, UAE.; Institute of Virology, University of Veterinary Medicine Vienna, Vienna, Austria.
Popatia R; College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai Health, Dubai, UAE.
Al Khayat A; Al Jalila Children's Specialty Hospital, Dubai Health, Dubai, UAE.
Alsheikh-Ali A; College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai Health, Dubai, UAE.; Dubai Health, Dubai, UAE.
Loney T; College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai Health, Dubai, UAE.
AlDabal LM; Medical Affairs Department, Rashid Hospital, Dubai Health, Dubai, UAE.
Abou Tayoun A; Al Jalila Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai Health, Dubai, UAE. .; Center for Genomic Discovery, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai Health, Dubai, UAE. .; Pokaż więcej
Źródło:: Scientific reports [Sci Rep] 2023 Nov 20; Vol. 13 (1), pp. 20294. Date of Electronic Publication: 2023 Nov 20.
Typ publikacji:: Journal Article
MeSH Terms:: COVID-19*/genetics
Genetic Predisposition to Disease*
Adult ; Humans ; Young Adult ; Asian ; Interferons/genetics ; Middle Eastern and North Africans

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Skocz do pozycji: 15.

Tytuł:: Genetic association between interleukin-17 and susceptibility to rheumatoid arthritis.
Autorzy:: Zhao R; Department of Rheumatology, Second Hospital of Shanxi Medical University, Taiyuan, 030001, Shanxi, China.; Key Laboratory of Cellular Physiology at Shanxi Medical University, Ministry of Education, Taiyuan, China.
Zhang YW; Key Laboratory of Cellular Physiology at Shanxi Medical University, Ministry of Education, Taiyuan, China.
Yao JY; Key Laboratory of Cellular Physiology at Shanxi Medical University, Ministry of Education, Taiyuan, China.
Qiao J; Department of Rheumatology, Second Hospital of Shanxi Medical University, Taiyuan, 030001, Shanxi, China.; Key Laboratory of Cellular Physiology at Shanxi Medical University, Ministry of Education, Taiyuan, China.
Song S; Department of Rheumatology, Second Hospital of Shanxi Medical University, Taiyuan, 030001, Shanxi, China.; Key Laboratory of Cellular Physiology at Shanxi Medical University, Ministry of Education, Taiyuan, China.
Zhang SX; Department of Rheumatology, Second Hospital of Shanxi Medical University, Taiyuan, 030001, Shanxi, China.
Wang CH; Department of Rheumatology, Second Hospital of Shanxi Medical University, Taiyuan, 030001, Shanxi, China. .
Li XF; Department of Rheumatology, Second Hospital of Shanxi Medical University, Taiyuan, 030001, Shanxi, China. lxf_.; Pokaż więcej
Źródło:: BMC medical genomics [BMC Med Genomics] 2023 Nov 06; Vol. 16 (1), pp. 277. Date of Electronic Publication: 2023 Nov 06.
Typ publikacji:: Journal Article
MeSH Terms:: Arthritis, Rheumatoid*/genetics
Interleukin-17*/genetics
Genetic Predisposition to Disease*
Receptors, Interleukin-17*/genetics
Humans ; Genome-Wide Association Study ; Interleukin-27 ; Risk Factors

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Skocz do pozycji: 16.

Tytuł:: Developments in Genetics: Better Management of Ovarian Cancer Patients.
Autorzy:: Maioru OV; Department of Medical Genetics, 'Carol Davila' University of Medicine and Pharmacy, 020021 Bucharest, Romania.
Radoi VE; Department of Medical Genetics, 'Carol Davila' University of Medicine and Pharmacy, 020021 Bucharest, Romania.; 'Alessandrescu-Rusescu' National Institute for Maternal and Child Health, 20382 Bucharest, Romania.
Coman MC; Department of Medical Genetics, 'Carol Davila' University of Medicine and Pharmacy, 020021 Bucharest, Romania.
Hotinceanu IA; Department of Medical Genetics, 'Carol Davila' University of Medicine and Pharmacy, 020021 Bucharest, Romania.
Dan A; Department of Medical Genetics, 'Carol Davila' University of Medicine and Pharmacy, 020021 Bucharest, Romania.
Eftenoiu AE; Department of Medical Genetics, 'Carol Davila' University of Medicine and Pharmacy, 020021 Bucharest, Romania.
Burtavel LM; Department of Medical Genetics, 'Carol Davila' University of Medicine and Pharmacy, 020021 Bucharest, Romania.
Bohiltea LC; Department of Medical Genetics, 'Carol Davila' University of Medicine and Pharmacy, 020021 Bucharest, Romania.; 'Alessandrescu-Rusescu' National Institute for Maternal and Child Health, 20382 Bucharest, Romania.
Severin EM; Department of Medical Genetics, 'Carol Davila' University of Medicine and Pharmacy, 020021 Bucharest, Romania.; Pokaż więcej
Źródło:: International journal of molecular sciences [Int J Mol Sci] 2023 Nov 05; Vol. 24 (21). Date of Electronic Publication: 2023 Nov 05.
Typ publikacji:: Journal Article; Review
MeSH Terms:: Genetic Predisposition to Disease*
Ovarian Neoplasms*/diagnosis
Ovarian Neoplasms*/genetics
Ovarian Neoplasms*/therapy
Humans ; Female ; Genetic Testing

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Skocz do pozycji: 17.

Tytuł:: Comprehensive analysis of genes associated with migraine in the Indian population: a meta-analysis of genetic association studies with trial sequential analysis.
Autorzy:: Sudershan A; Institute of Human Genetics, University of Jammu, Jammu, Jammu and Kashmir, 180006, India.; Department of Human Genetics, Sri Pratap College, Cluster University of Srinagar, Kashmir, Jammu and Kashmir, India.
Pushap AC; Department of Education, Dakshina Bharat Hindi Prachar Sabha, Madras, 600017, India.
Bhagat M; Department of Zoology and Institute of Human Genetics, University of Jammu, Jammu, Jammu and Kashmir, 180006, India.
Sharma I; Department of Zoology and Institute of Human Genetics, University of Jammu, Jammu, Jammu and Kashmir, 180006, India.
Kumar H; Department of Neurology, Super Specialty Hospital, Jammu, Jammu and Kashmir, 180006, India.
Digra SK; Department of Paediatrics, Sri Maharaja Gulab Singh Hospital, Government Medical College, Jammu, Jammu and Kashmir, 180006, India. .
Kumar P; Institute of Human Genetics, University of Jammu, Jammu, Jammu and Kashmir, 180006, India. .; Department of Zoology and Institute of Human Genetics, University of Jammu, Jammu, Jammu and Kashmir, 180006, India. .; Pokaż więcej
Źródło:: Scientific reports [Sci Rep] 2023 Nov 04; Vol. 13 (1), pp. 19070. Date of Electronic Publication: 2023 Nov 04.
Typ publikacji:: Systematic Review; Meta-Analysis; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Genetic Predisposition to Disease*
Migraine Disorders*/genetics
Migraine Disorders*/epidemiology
Humans ; Genetic Association Studies ; Alleles ; Asian People

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Skocz do pozycji: 18.

Tytuł:: Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency.
Autorzy:: Le Voyer T; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France. .; Paris Cité University, Imagine Institute, Paris, France. .
Parent AV; Diabetes Center, University of California, San Francisco, San Francisco, CA, USA.
Liu X; Diabetes Center, University of California, San Francisco, San Francisco, CA, USA.
Cederholm A; Science for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden.
Gervais A; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France.; Paris Cité University, Imagine Institute, Paris, France.
Rosain J; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France.; Paris Cité University, Imagine Institute, Paris, France.; Study Center for Immunodeficiencies, Necker Hospital for Sick Children, Paris, France.
Nguyen T; Garvan Institute of Medical Research, Sydney, New South Wales, Australia.; School of Clinical Medicine, UNSW Medicine & Health, Darlinghurst, New South Wales, Australia.
Perez Lorenzo M; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France.; Paris Cité University, Imagine Institute, Paris, France.
Rackaityte E; Department of Biochemistry and Biophysics, University of California San Francisco, San Francisco, CA, USA.
Rinchai D; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
Zhang P; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
Bizien L; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France.; Paris Cité University, Imagine Institute, Paris, France.
Hancioglu G; Division of Pediatric Allergy and Immunology, Ondokuz Mayıs University Faculty of Medicine, Samsun, Turkey.
Ghillani-Dalbin P; Department of Immunology, AP-HP, Pitié-Salpêtrière Hospital, Paris, France.
Charuel JL; Department of Immunology, AP-HP, Pitié-Salpêtrière Hospital, Paris, France.
Philippot Q; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France.; Paris Cité University, Imagine Institute, Paris, France.
Gueye MS; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France.; Paris Cité University, Imagine Institute, Paris, France.
Maglorius Renkilaraj MRL; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France.; Paris Cité University, Imagine Institute, Paris, France.
Ogishi M; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
Soudée C; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France.; Paris Cité University, Imagine Institute, Paris, France.
Migaud M; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France.; Paris Cité University, Imagine Institute, Paris, France.
Rozenberg F; Virology, Cochin-Saint-Vincent de Paul Hospital, University of Paris, Paris, France.
Momenilandi M; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France.; Paris Cité University, Imagine Institute, Paris, France.
Riller Q; Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, Paris Cité University, Imagine Institute, INSERM UMR1163, Paris, France.
Imberti L; Section of Microbiology, University of Brescia, Brescia, Italy.
Delmonte OM; Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.
Müller G; Institute for Immunodeficiency, Center for Chronic Immunodeficiencies, Medical Center-University Hospital Freiburg, and Faculty of Medicine, Albert-Ludwigs-University, Freiburg, Germany.; Department of Rheumatology and Clinical Immunology, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Keller B; Department of Rheumatology and Clinical Immunology, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.; Center for Chronic Immunodeficiency (CCI), Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Orrego J; Primary Immunodeficiencies Group, Department of Microbiology and Parasitology, School of Medicine, University of Antioquia, Medellín, Colombia.
Franco Gallego WA; Primary Immunodeficiencies Group, Department of Microbiology and Parasitology, School of Medicine, University of Antioquia, Medellín, Colombia.
Rubin T; Division of Pediatric Clinical Immunology and Allergy, Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, Manitoba, Canada.
Emiroglu M; Department of Pediatric Infectious Diseases, Faculty of Medicine, Selcuk University, Konya, Turkey.
Parvaneh N; Division of Allergy and Clinical Immunology, Department of Pediatrics, Tehran University of Medical Sciences, Tehran, Iran.
Eriksson D; Department of Clinical Genetics, Uppsala University Hospital, Uppsala, Sweden.; Department of Immunology, Genetics and Pathology, Section of Clinical Genetics, Uppsala University and University Hospital, Uppsala, Sweden.; Center for Molecular Medicine, Department of Medicine (Solna), Karolinska Institute, Stockholm, Sweden.
Aranda-Guillen M; Center for Molecular Medicine, Department of Medicine (Solna), Karolinska Institute, Stockholm, Sweden.
Berrios DI; Diabetes Center, University of California, San Francisco, San Francisco, CA, USA.
Vong L; Division of Immunology and Allergy, Department of Paediatrics, Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada.; The Canadian Centre for Primary Immunodeficiency and The Jeffrey Modell Research Laboratory for the Diagnosis of Primary Immunodeficiency, The Hospital for Sick Children, Toronto, Ontario, Canada.
Katelaris CH; Immunology and Allergy, University of Western Sydney and Campbelltown Hospital, Campbelltown, New South Wales, Australia.
Mustillo P; Division of Allergy and Immunology, Nationwide Children's Hospital, The Ohio State University College of Medicine, Columbus, OH, USA.
Raedler J; Division of Pediatric Immunology and Rheumatology, Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, Ludwig-Maximilians-Universität München, Munich, Germany.
Bohlen J; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France.; Paris Cité University, Imagine Institute, Paris, France.
Bengi Celik J; Department of Anesthesiology and Reanimation, Selcuk University Faculty of Medicine, Konya, Turkey.
Astudillo C; Hospital de Niños Roberto del Río, Santiago, Chile.; Department of Pediatrics, Facultad de Medicina Clinica Alemana Universidad del Desarrollo, Santiago, Chile.
Winter S; Laboratory of Lymphocyte Activation and Susceptibility to EBV, Paris Cité University, Imagine Institute, Inserm UMR1163, Paris, France.
McLean C; Department of Anatomical Pathology, The Alfred Hospital, Prahran, Victoria, Australia.
Guffroy A; Department of Clinical Immunology and Internal Medicine, National Reference Center for Autoimmune Diseases, Strasbourg University Hospital, Strasbourg, France.
DeRisi JL; Department of Biochemistry and Biophysics, University of California San Francisco, San Francisco, CA, USA.; Chan Zuckerberg Biohub, San Francisco, CA, USA.
Yu D; Diabetes Center, University of California, San Francisco, San Francisco, CA, USA.
Miller C; Diabetes Center, University of California, San Francisco, San Francisco, CA, USA.
Feng Y; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
Guichard A; Joint Unit Hospices Civils de Lyon-BioMérieux, Lyon, France.
Béziat V; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France.; Paris Cité University, Imagine Institute, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
Bustamante J; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France.; Paris Cité University, Imagine Institute, Paris, France.; Study Center for Immunodeficiencies, Necker Hospital for Sick Children, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
Pan-Hammarström Q; Department of Biosciences and Nutrition, Karolinska Institutet, Stockholm, Sweden.; Division of Immunology, Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden.
Zhang Y; Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.; NIAID Clinical Genomics Program, NIH, Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, NIAID, NIH, Bethesda, MD, USA.
Rosen LB; Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.
Holland SM; Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.
Bosticardo M; Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.
Kenney H; Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.
Castagnoli R; Pediatric Unit, Department of Clinical, Surgical, Diagnostic, and Pediatric Sciences, University of Pavia, Pavia, Italy.; Pediatric Clinic, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.
Slade CA; Immunology Division, Walter and Eliza Hall Institute, Melbourne, Victoria, Australia.; Dept Medical Biology, University of Melbourne, Victoria, Parkville, Australia.; Dept Clinical Immunology and Allergy, The Royal Melbourne Hospital, Parkville, Australia.
Boztuğ K; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.; Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria.; Anna Children's Cancer Research Institute, Vienna, Austria.; Anna Children's Hospital, Vienna, Austria.
Mahlaoui N; French National Reference Center for Primary Immunodeficiencies (CEREDIH), Necker-Enfants University Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.; Department of Pediatric Immunology, Hematology and Rheumatology, Necker-Enfants Malades Hospital, AP-HP, Paris, France.
Latour S; Laboratory of Lymphocyte Activation and Susceptibility to EBV, Paris Cité University, Imagine Institute, Inserm UMR1163, Paris, France.
Abraham RS; Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, OH, USA.
Lougaris V; Department of Clinical and Experimental Sciences, Pediatrics Clinic and Institute for Molecular Medicine A. Nocivelli, University of Brescia ASST-Spedali Civili di Brescia, Brescia, Italy.
Hauck F; Division of Pediatric Immunology and Rheumatology, Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, Ludwig-Maximilians-Universität München, Munich, Germany.
Sediva A; Department of Immunology, Second Faculty of Medicine Charles University and Motol University Hospital, Prague, Czech Republic.
Atschekzei F; Department of Rheumatology and Immunology, Hannover Medical School, Hannover, Germany.
Sogkas G; Department of Rheumatology and Immunology, Hannover Medical School, Hannover, Germany.
Poli MC; Hospital de Niños Roberto del Río, Santiago, Chile.; Department of Pediatrics, Facultad de Medicina Clinica Alemana Universidad del Desarrollo, Santiago, Chile.
Slatter MA; Children's Haemopoietic Stem Cell Transplant Unit, Great North Children's Hospital, Newcastle-upon-Tyne Hospital NHS Foundation Trust, Newcastle upon Tyne, UK.
Palterer B; Allergy and Clinical Immunology, Department of Experimental and Clinical Medicine, University of Florence, Florence, Italy.
Keller MD; Division of Allergy and Immunology, Children's National Medical Center, Washington, DC, USA.
Pinzon-Charry A; Clinical Immunogenomics Research Consortium Australasia (CIRCA), Darlinghurst, New South Wales, Australia.; Immunology and Allergy, Queensland Children's Hospital, South Brisbane, Queensland, Australia.
Sullivan A; Clinical Immunogenomics Research Consortium Australasia (CIRCA), Darlinghurst, New South Wales, Australia.; Immunology and Allergy, Queensland Children's Hospital, South Brisbane, Queensland, Australia.
Droney L; Clinical Immunogenomics Research Consortium Australasia (CIRCA), Darlinghurst, New South Wales, Australia.; Immunology and Allergy, Queensland Children's Hospital, South Brisbane, Queensland, Australia.
Suan D; Clinical Immunogenomics Research Consortium Australasia (CIRCA), Darlinghurst, New South Wales, Australia.; Westmead Clinical School, University of Sydney, Sydney, New South Wales, Australia.
Wong M; Clinical Immunogenomics Research Consortium Australasia (CIRCA), Darlinghurst, New South Wales, Australia.; Westmead Clinical School, University of Sydney, Sydney, New South Wales, Australia.; Faculty of Medicine, University of Sydney, Sydney, New South Wales, Australia.
Kane A; School of Clinical Medicine, UNSW Medicine & Health, Darlinghurst, New South Wales, Australia.; Clinical Immunogenomics Research Consortium Australasia (CIRCA), Darlinghurst, New South Wales, Australia.; South Western Sydney Clinical School, Faculty of Medicine and Health, UNSW Sydney, Sydney, New South Wales, Australia.; Department of Immunology, Allergy and HIV, St Vincent's Hospital, Sydney, New South Wales, Australia.
Hu H; Clinical Immunogenomics Research Consortium Australasia (CIRCA), Darlinghurst, New South Wales, Australia.; South Western Sydney Clinical School, Faculty of Medicine and Health, UNSW Sydney, Sydney, New South Wales, Australia.; Department of Immunology, Allergy and HIV, St Vincent's Hospital, Sydney, New South Wales, Australia.
Ma C; Garvan Institute of Medical Research, Sydney, New South Wales, Australia.; School of Clinical Medicine, UNSW Medicine & Health, Darlinghurst, New South Wales, Australia.; Clinical Immunogenomics Research Consortium Australasia (CIRCA), Darlinghurst, New South Wales, Australia.
Grombiříková H; Centre for Cardiovascular Surgery and Transplantation, Medical Faculty, Masaryk University, Brno, Czech Republic.
Ciznar P; Department of Paediatrics, Faculty of Medicine, Comenius University Bratislava, Bratislava, Slovakia.
Dalal I; Pediatric Department, E. Wolfson Medical Center, Tel Aviv University, Tel Aviv, Israel.
Aladjidi N; Pediatric Oncology Hematology Unit, University Hospital, Plurithématique CIC (CICP), Centre d'Investigation Clinique (CIC) 1401, Bordeaux, France.
Hie M; Internal Medicine Department, Pitié-Salpêtrière Hospital, Paris, France.
Lazaro E; Department of Internal Medicine & Infectious Diseases, Bordeaux Hospital University, Bordeaux, France.
Franco J; Primary Immunodeficiencies Group, Department of Microbiology and Parasitology, School of Medicine, University of Antioquia, Medellín, Colombia.
Keles S; Division of Pediatric Allergy and Immunology, Meram Medical Faculty, Necmettin Erbakan University, Konya, Turkey.
Malphettes M; Clinical Immunology Department, Saint Louis Hospital, Paris, France.
Pasquet M; Department of Pediatric Hematology, Toulouse University Hospital, Toulouse, France.
Maccari ME; Institute for Immunodeficiency, Center for Chronic Immunodeficiencies, Medical Center-University Hospital Freiburg, and Faculty of Medicine, Albert-Ludwigs-University, Freiburg, Germany.; Division of Pediatric Hematology and Oncology, Department of Pediatrics and Adolescent Medicine, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Meinhardt A; Department of Pediatric Hematology, Oncology and Immunodeficiencies, University Children's Hospital Gießen, Giessen, Germany.
Ikinciogullari A; Department of Pediatric Immunology and Allergy, Ankara University School of Medicine, Ankara, Turkey.
Shahrooei M; Dr. Shahrooei Lab, Tehran, Iran.; Clinical and Diagnostic Immunology, Department of Microbiology, Immunology, and Transplantation, KU Leuven, Leuven, Belgium.
Celmeli F; Department of Allergy and Immunology, University of Medical Science, Antalya Education and Research Hospital, Antalya, Turkey.
Frosk P; Department of Biochemistry and Medical Genetics, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada.
Goodnow CC; Garvan Institute of Medical Research, Sydney, New South Wales, Australia.; School of Clinical Medicine, UNSW Medicine & Health, Darlinghurst, New South Wales, Australia.; Clinical Immunogenomics Research Consortium Australasia (CIRCA), Darlinghurst, New South Wales, Australia.
Gray PE; Clinical Immunogenomics Research Consortium Australasia (CIRCA), Darlinghurst, New South Wales, Australia.; Immunology and Infectious Diseases, Sydney Children's Hospital Randwick, Western Sydney University, Campbelltown, New South Wales, Australia.
Belot A; CNRS UMR 5308, ENS, UCBL, Lyon, France.; National Reference Center for Rheumatic, Autoimmune and Systemic Diseases in Children (RAISE), Lyon, France.; Immunopathology Federation LIFE, Hospices Civils de Lyon, Lyon, France.
Kuehn HS; Immunology Service, Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD, USA.
Rosenzweig SD; Immunology Service, Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD, USA.
Miyara M; Department of Immunology, AP-HP, Pitié-Salpêtrière Hospital, Paris, France.; Centre d'Immunologie et des Maladies Infectieuses (CIMI), Sorbonne Université, INSERM U1135, Paris, France.
Licciardi F; Department of Pediatrics and Public Health, Università degli Studi di Torino, Turin, Italy.
Servettaz A; Internal Medicine, Clinical Immunology and Infectious Diseases Department, University Hospital Center, Reims, France.; IRMAIC EA 7509, URCA, Reims, France.
Barlogis V; CHU Marseille, Hôpital La Timone, Service d'Hémato-oncologie Pédiatrique, Assistance Publique-Hôpitaux de Marseille, Marseille, France.
Le Guenno G; Centre Hospitalier Universitaire Estaing, Clermont-Ferrand, France.
Herrmann VM; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
Kuijpers T; Department of Pediatric Immunology, Rheumatology and Infectious Diseases, Emma Children's Hospital, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
Ducoux G; Department of Internal Medicine, Edouard Herriot Hospital, Lyon, France.
Sarrot-Reynauld F; Department of Internal Medicine, Hôpital Michallon, CHU de Grenoble Alpes, Grenoble, France.
Schuetz C; Department of Pediatrics, Universitätsklinikum Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.
Cunningham-Rundles C; Departments of Medicine and Pediatrics, Mount Sinai School of Medicine, New York, NY, USA.
Rieux-Laucat F; Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, Paris Cité University, Imagine Institute, INSERM UMR1163, Paris, France.
Tangye SG; Garvan Institute of Medical Research, Sydney, New South Wales, Australia.; School of Clinical Medicine, UNSW Medicine & Health, Darlinghurst, New South Wales, Australia.; Clinical Immunogenomics Research Consortium Australasia (CIRCA), Darlinghurst, New South Wales, Australia.
Sobacchi C; IRCCS Humanitas Research Hospital, Rozzano, Italy.; CNR-IRGB, Milan Unit, Milan, Italy.
Doffinger R; Department of Clinical Biochemistry and Immunology, Addenbrooke's Hospital, Cambridge, UK.
Warnatz K; Department of Rheumatology and Clinical Immunology, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.; Center for Chronic Immunodeficiency (CCI), Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Grimbacher B; Institute for Immunodeficiency, Center for Chronic Immunodeficiencies, Medical Center-University Hospital Freiburg, and Faculty of Medicine, Albert-Ludwigs-University, Freiburg, Germany.; Department of Rheumatology and Clinical Immunology, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Fieschi C; Clinical Immunology Department, Saint Louis Hospital, Paris, France.; Paris Cité University, Paris, France.
Berteloot L; Pediatric Radiology Department, Assistance Publique-Hôpitaux de Paris (AP-HP), Necker Hospital for Sick Children, Paris, France.
Bryant VL; Immunology Division, Walter and Eliza Hall Institute, Melbourne, Victoria, Australia.; Dept Medical Biology, University of Melbourne, Victoria, Parkville, Australia.; Dept Clinical Immunology and Allergy, The Royal Melbourne Hospital, Parkville, Australia.
Trouillet Assant S; Joint Unit Hospices Civils de Lyon-BioMérieux, Lyon, France.; CIRI (Centre International de Recherche en Infectiologie), Université de Lyon, Université Claude Bernard Lyon 1, INSERM U1111, CNRS, UMR5308, ENS Lyon, Université Jean Monnet de Saint-Etienne, Lyon, France.
Su H; Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.; NIAID Clinical Genomics Program, NIH, Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, NIAID, NIH, Bethesda, MD, USA.
Neven B; Department of Pediatric Immunology, Hematology and Rheumatology, Necker-Enfants Malades Hospital, AP-HP, Paris, France.
Abel L; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France.; Paris Cité University, Imagine Institute, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
Zhang Q; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France.; Paris Cité University, Imagine Institute, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
Boisson B; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France.; Paris Cité University, Imagine Institute, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
Cobat A; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France.; Paris Cité University, Imagine Institute, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
Jouanguy E; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France.; Paris Cité University, Imagine Institute, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
Kampe O; Department of Endocrinology, Metabolism and Diabetes, Karolinska University Hospital, Stockholm, Sweden.
Bastard P; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France.; Paris Cité University, Imagine Institute, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.; Department of Pediatric Immunology, Hematology and Rheumatology, Necker-Enfants Malades Hospital, AP-HP, Paris, France.
Roifman CM; Division of Immunology and Allergy, Department of Paediatrics, Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada.; The Canadian Centre for Primary Immunodeficiency and The Jeffrey Modell Research Laboratory for the Diagnosis of Primary Immunodeficiency, The Hospital for Sick Children, Toronto, Ontario, Canada.
Landegren N; Science for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden.; Center for Molecular Medicine, Department of Medicine (Solna), Karolinska Institute, Stockholm, Sweden.
Notarangelo LD; Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.
Anderson MS; Diabetes Center, University of California, San Francisco, San Francisco, CA, USA.; Department of Medicine, University of California, San Francisco, San Francisco, CA, USA.
Casanova JL; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France. .; Paris Cité University, Imagine Institute, Paris, France. .; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA. .; Howard Hughes Medical Institute, New York, NY, USA. .; Department of Pediatrics, Necker Hospital for Sick Children, Paris, France. .
Puel A; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France. .; Paris Cité University, Imagine Institute, Paris, France. .; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA. .; Pokaż więcej
Corporate Authors:: NF-κB Consortium
COVID Human Genetic Effort
Źródło:: Nature [Nature] 2023 Nov; Vol. 623 (7988), pp. 803-813. Date of Electronic Publication: 2023 Nov 08.
Typ publikacji:: Journal Article
MeSH Terms:: Autoantibodies*/immunology
Genetic Predisposition to Disease*
Interferon Type I*/antagonists & inhibitors
Interferon Type I*/immunology
NF-kappa B*/deficiency
NF-kappa B*/genetics
Humans ; COVID-19/genetics ; COVID-19/immunology ; Gain of Function Mutation ; Heterozygote ; I-kappa B Proteins/deficiency ; I-kappa B Proteins/genetics ; Loss of Function Mutation ; NF-kappa B p52 Subunit/deficiency ; NF-kappa B p52 Subunit/genetics ; Pneumonia, Viral/genetics ; Pneumonia, Viral/immunology ; Thymus Gland/abnormalities ; Thymus Gland/immunology ; Thymus Gland/pathology ; Thyroid Epithelial Cells/metabolism ; Thyroid Epithelial Cells/pathology
SCR Disease Name:: Autoimmune polyendocrinopathy syndrome, type 1

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Skocz do pozycji: 19.

Tytuł:: Tumor necrosis factor-α (TNF-α) -308G >a promoter polymorphism (rs1800629) promotes Asians in susceptibility to Plasmodium falciparum severe malaria: A meta-analysis.
Autorzy:: Kongjam P; Chulabhorn International College of Medicine, Thammasat University (Rangsit Campus), Klongneung, Klongluang, Pathumthani, Thailand.
Pabalan N; Chulabhorn International College of Medicine, Thammasat University (Rangsit Campus), Klongneung, Klongluang, Pathumthani, Thailand.
Tharabenjasin P; Chulabhorn International College of Medicine, Thammasat University (Rangsit Campus), Klongneung, Klongluang, Pathumthani, Thailand.
Jarjanazi H; Environmental Monitoring and Reporting Branch, Ontario Ministry of the Environment and Parks, Toronto, Ontario, Canada.
Chaijaroenkul W; Chulabhorn International College of Medicine, Thammasat University (Rangsit Campus), Klongneung, Klongluang, Pathumthani, Thailand.
Na-Bangchang K; Chulabhorn International College of Medicine, Thammasat University (Rangsit Campus), Klongneung, Klongluang, Pathumthani, Thailand.; Graduate Program in Bioclinical Sciences, Chulabhorn International College of Medicine, Thammasat University (Rangsit Campus), Klongnueng, Klongluang, Pathumthani, Thailand.; Pokaż więcej
Źródło:: PLoS neglected tropical diseases [PLoS Negl Trop Dis] 2023 Nov 01; Vol. 17 (11), pp. e0011735. Date of Electronic Publication: 2023 Nov 01 (Print Publication: 2023).
Typ publikacji:: Meta-Analysis; Journal Article
MeSH Terms:: Genetic Predisposition to Disease*
Tumor Necrosis Factor-alpha*/genetics
Humans ; Genotype ; Plasmodium falciparum/genetics ; Polymorphism, Single Nucleotide

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Skocz do pozycji: 20.

Tytuł:: Reassessment of the NF1 variants of unknown significance found during the 20-year activity of a genetics diagnostic laboratory.
Autorzy:: Martorana D; Medical Genetics, University Hospital of Parma, 43126, Parma, Italy; CoreLAB Research Center, University Hospital of Parma, 43126, Italy.
Barili V; Medical Genetics, Department of Medicine and Surgery, University of Parma, Parma, Italy.
Uliana V; Medical Genetics, University Hospital of Parma, 43126, Parma, Italy.
Ambrosini E; Medical Genetics, University Hospital of Parma, 43126, Parma, Italy.
Riva M; Medical Genetics, Department of Medicine and Surgery, University of Parma, Parma, Italy.
De Sensi E; Medical Genetics, Department of Medicine and Surgery, University of Parma, Parma, Italy.
Luppi E; Medical Genetics, University of Bologna, Italy.
Messina C; Medical Genetics, University Hospital of Parma, 43126, Parma, Italy.
Caleffi E; Plastic Surgery, University Hospital of Parma, 43126, Parma, Italy.
Pisani F; Children's Neuropsychological Services, Department of Medicine and Surgery, University of Parma, Parma, Italy.
Percesepe A; Medical Genetics, University Hospital of Parma, 43126, Parma, Italy; Medical Genetics, Department of Medicine and Surgery, University of Parma, Parma, Italy. Electronic address: .; Pokaż więcej
Źródło:: European journal of medical genetics [Eur J Med Genet] 2023 Nov; Vol. 66 (11), pp. 104847. Date of Electronic Publication: 2023 Sep 24.
Typ publikacji:: Journal Article
MeSH Terms:: Genetic Predisposition to Disease*
Neurofibromatosis 1*/diagnosis
Neurofibromatosis 1*/genetics
Adult ; Humans ; Retrospective Studies ; Genetic Testing/methods ; Mutation, Missense

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