Missense variants in NOX1 and p22phox in a case of very-early-onset inflammatory bowel disease are functionally linked to NOD2.

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作者： Simone,Lipinski ^[1] ; Britt-Sabina,Petersen ^[1] ; Matthias,Barann ^[1] ; Agnes,Piecyk ^[1] ; Florian,Tran ^[1] ; Gabriele,Mayr ^[2] ; Marlene,Jentzsch ^[1] ; Konrad,Aden ^[1] ; Stephanie T,Stengel ^[1] ; Ulrich C,Klostermeier ^[2] ; Vrunda,Sheth ^[1] ; David,Ellinghaus ^[1] ; Tobias,Rausch ^[3] ; Jan O,Korbel ^[1] ; Michael,Nothnagel ^[4] ; Michael,Krawczak ^[4] ; Christian,Gilissen ^[5] ; Joris A,Veltman ^[5] ; Michael,Forster ^[6] ; Peter,Forster ^[6] ; Clarence C,Lee ^[7] ; Annette,Fritscher-Ravens ^[1] ; Stefan,Schreiber ^[8] ; Andre,Franke ^[2] ; Philip,Rosenstiel ^[2]

作者单位： Institute of Clinical Molecular Biology (IKMB), Christian-Albrechts-University, 24105 Kiel, Germany. ^[1] Department of General Internal Medicine, Christian-Albrechts-University, University Hospital Schleswig-Holstein, 24105 Kiel, Germany. ^[2] Life Technologies, Beverly, Massachusetts 01915, USA. ^[3] European Molecular Biology Laboratory (EMBL), Genome Biology Unit, 69117 Heidelberg, Germany. ^[4] Institute of Medical Informatics and Statistics (IMIS), Christian-Albrechts University, 24105 Kiel, Germany. ^[5] Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen 6525, The Netherlands. ^[6] Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, United Kingdom. ^[7] Murray Edwards College, University of Cambridge, Cambridge CB3 0DF, United Kingdom. ^[8]

关键词 inflammation of the large intestine

主题词细胞系, 肿瘤(Cell Line, Tumor);染色体, 人, X(Chromosomes, Human, X);纯合子(Homozygote);人类(Humans);炎性肠疾病(Inflammatory Bowel Diseases);男(雄)性(Male);突变, 误义(Mutation, Missense);Nod2信号接头蛋白质(Nod2 Signaling Adaptor Protein);多态性, 单核苷酸(Polymorphism, Single Nucleotide)

DOI 10.1101/mcs.a002428

PMID 30709874

发布时间 2022-12-07

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Cold Spring Harbor molecular case studies

2019年5卷1期

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Missense variants in NOX1 and p22phox in a case of very-early-onset inflammatory bowel disease are functionally linked to NOD2.

Cold Spring Harbor molecular case studies

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Cold Spring Harbor molecular case studies

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Missense variants in NOX1 and p22phox in a case of very-early-onset inflammatory bowel disease are functionally linked to NOD2.

Cold Spring Harbor molecular case studies

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Cold Spring Harbor molecular case studies

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