Endoplasmic reticulum retention of xylosyltransferase 1 (XYLT1) mutants underlying Desbuquois dysplasia type II
Author:
Affiliation:
1. Department of Pathology; College of Medicine and Heath Sciences; Al-Ain United Arab Emirates
2. Department of Paediatrics; College of Medicine and Health Sciences; Al-Ain United Arab Emirates
Funder
United Arab Emirates University
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference22 articles.
1. A method and server for predicting damaging missense mutations;Adzhubei;Nature Methods,2010
2. A review of the principles of radiological assessment of skeletal dysplasias;Alanay;Journal of Clinical Research in Pediatric Endocrinology,2011
3. Novel Robinow syndrome causing mutations in the proximal region of the frizzled-like domain of ROR2 are retained in the endoplasmic reticulum;Ali;Human Genetics,2007
4. The xylosyltransferase Ι gene polymorphism c.343G>T (p.A115S) is associated with decreased serum glycosaminoglycan levels;Ambrosius;Clinical Biochemistry,2009
5. XYLT1 mutations in desbuquois dysplasia type 2;Bui;American Journal of Medical Genetics,2014
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1. Clinical and Genetic Insights into Desbuquois Dysplasia: Review of 111 Case Reports;International Journal of Molecular Sciences;2024-09-07
2. Xylosyltransferase-Deficiency in Human Dermal Fibroblasts Induces Compensatory Myofibroblast Differentiation and Long-Term ECM Reduction;Biomedicines;2024-03-04
3. Novel compound heterozygous variants in XYLT1 gene caused Desbuquois dysplasia type 2 in an aborted fetus: a case report;BMC Pediatrics;2022-01-26
4. Supply chain logistics – the role of the Golgi complex in extracellular matrix production and maintenance;Journal of Cell Science;2022-01-01
5. Congenital Disorders of Deficiency in Glycosaminoglycan Biosynthesis;Frontiers in Genetics;2021-09-03
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