Clinical observation and genetic analysis of a SYNS1 family caused by novel NOG gene mutation

Autor: Zhao Zhang, Yu Lu, Jing‐Yuan Cao, Li Wang, Lin‐Ke Li, Chao Wang, Xuan Ye, Yi‐Ming Ji, Lin‐Yi Tu, Yi Sun

Publikováno v: Molecular Genetics & Genomic Medicine, Vol 10, Iss 5, Pp n/a-n/a (2022)

Abstract Objective Analyze the clinical and genetic characteristics of a rare Chinese family with Multiple synostoses syndrome and identify the causative variant with the high‐throughput sequencing approach. Methods The medical history investigatio

Externí odkaz: https://doaj.org/article/77637cb4bb2446919be4a6986b2af5d3

BMP antagonists in tissue development and disease.

Autor: Correns A; Department of Paediatrics and Adolescent Medicine, Faculty of Medicine and University Hospital Cologne, University of Cologne, Kerpener Str. 62, 50937 Cologne, Germany.; Center for Biochemistry, Faculty of Medicine, University Hospital of Cologne, Joseph-Stelzmann-Str. 52, 50931 Cologne, Germany., Zimmermann LA; Department of Paediatrics and Adolescent Medicine, Faculty of Medicine and University Hospital Cologne, University of Cologne, Kerpener Str. 62, 50937 Cologne, Germany.; Center for Biochemistry, Faculty of Medicine, University Hospital of Cologne, Joseph-Stelzmann-Str. 52, 50931 Cologne, Germany., Baldock C; Wellcome Trust Centre for Cell-Matrix Research, University of Manchester, B.3016 Michael Smith Building, Oxford Road, M13 9PT, Manchester, United Kingdom.; Division of Cell Matrix Biology and Regenerative Medicine, School of Biological Sciences, Faculty of Biology, Medicine and Health, Manchester Academic Health Science Centre, University of Manchester, Michael Smith Building, M13 9PT, Manchester, UK., Sengle G; Department of Paediatrics and Adolescent Medicine, Faculty of Medicine and University Hospital Cologne, University of Cologne, Kerpener Str. 62, 50937 Cologne, Germany.; Center for Biochemistry, Faculty of Medicine, University Hospital of Cologne, Joseph-Stelzmann-Str. 52, 50931 Cologne, Germany.; Center for Molecular Medicine Cologne (CMMC), University of Cologne, Robert-Koch-Str. 21, 50931 Cologne, Germany.; Cologne Centre for Musculoskeletal Biomechanics (CCMB), Joseph-Stelzmann-Str. 9, 50931 Cologne, Germany.

Publikováno v: Matrix biology plus [Matrix Biol Plus] 2021 Jun 11; Vol. 11, pp. 100071. Date of Electronic Publication: 2021 Jun 11 (Print Publication: 2021).