β6 integrinosis: a new lethal autosomal recessive ITGB6 disorder leading to impaired conformational transitions of the α<sub>V</sub>β6 integrin receptor.

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第一作者： Patrick,Weil

第一单位： Clinical Molecular Genetics and Epigenetics, Centre for Biomedical Education and Research (ZBAF), HELIOS University Hospital Wuppertal, Witten/Herdecke University, Wuppertal, Germany.

作者： Patrick,Weil ^[1] ; Rhea,van den Bruck ^[2] ; Thomas,Ziegenhals ^[3] ; Stefan,Juranek ^[3] ; Daniel,Goedde ^[4] ; Valerie,Orth ^[5] ; Stefan,Wirth ^[2] ; Andreas C,Jenke ^[6] ; Jan,Postberg ^[1]

作者单位： Clinical Molecular Genetics and Epigenetics, Centre for Biomedical Education and Research (ZBAF), HELIOS University Hospital Wuppertal, Witten/Herdecke University, Wuppertal, Germany. ^[1] Department of Paediatrics, HELIOS University Hospital Wuppertal, Wuppertal, Germany. ^[2] Chair of Biochemistry, Theodor-Boveri-Institute at the Biocenter, University of Würzburg, Wurzburg, Germany. ^[3] Department of Pathology, HELIOS University Hospital Wuppertal, Wuppertal, Germany. ^[4] Department of Surgery II, HELIOS University Hospital Wuppertal, Wuppertal, Germany. ^[5] Clinical Molecular Genetics and Epigenetics, Centre for Biomedical Education and Research (ZBAF), HELIOS University Hospital Wuppertal, Witten/Herdecke University, Wuppertal, Germany.;Department of Neonatology and General Pediatrics, Children's Hospital Kassel, Kassel, Germany. ^[6]

关键词 infant gut integrins intestinal malabsorption

主题词抗原, 肿瘤(Antigens, Neoplasm);人类(Humans);整合素β链(Integrin beta Chains);整合素类(Integrins);巨噬细胞(Macrophages);单核细胞(Monocytes);伤口愈合(Wound Healing)

DOI 10.1136/gutjnl-2019-319015

PMID 31201286

发布时间 2021-02-09

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