Associated Papers
Xylosyltransferase-Deficiency in Human Dermal Fibroblasts Induces Compensatory Myofibroblast Differentiation and Long-Term ECM Reduction.
Kleine A et al.
Biomedicines, 2024
Congenital Disorders of Deficiency in Glycosaminoglycan Biosynthesis.
Mizumoto S et al.
Frontiers in Genetics, 2021
Structural Basis for the Initiation of Glycosaminoglycan Biosynthesis by Human Xylosyltransferase 1.
Briggs DC et al.
Structure (london, England : 1993), 2018
Endoplasmic reticulum retention of xylosyltransferase 1 (XYLT1) mutants underlying Desbuquois dysplasia type II.
Al-Jezawi NK et al.
American Journal of Medical Genetics. Part A, 2017
Novel and recurrent XYLT1 mutations in two Turkish families with Desbuquois dysplasia, type 2.
Guo L et al.
Journal of Human Genetics, 2017
Exome sequencing reveals two novel compound heterozygous XYLT1 mutations in a Polish patient with Desbuquois dysplasia type 2 and growth hormone deficiency.
Jamsheer A et al.
Journal of Human Genetics, 2016
Mutations in Biosynthetic Enzymes for the Protein Linker Region of Chondroitin/Dermatan/Heparan Sulfate Cause Skeletal and Skin Dysplasias.
Mizumoto S et al.
Biomed Research International, 2015
First description of the complete human xylosyltransferase-I promoter region.
Faust I et al.
Bmc Genetics, 2014
XYLT1 mutations in Desbuquois dysplasia type 2.
Bui C et al.
American Journal of Human Genetics, 2014
Forward genetics defines Xylt1 as a key, conserved regulator of early chondrocyte maturation and skeletal length.
Mis EK et al.
Developmental Biology, 2014
The missing "link": an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation.
Schreml J et al.
Human Genetics, 2014
Human genetic disorders and knockout mice deficient in glycosaminoglycan.
Mizumoto S et al.
Biomed Research International, 2014
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