Associated Papers
Melatonin receptor 1A variants as genetic cause of idiopathic osteoporosis.
Bisikirska B et al.
Science Translational Medicine, 2024
Molecular Genetics and Modifier Genes in Pseudoxanthoma Elasticum, a Heritable Multisystem Ectopic Mineralization Disorder.
Luo H et al.
The Journal of Investigative Dermatology, 2021
The genetic map of diabetic nephropathy: evidence from a systematic review and meta-analysis of genetic association studies.
Tziastoudi M et al.
Clinical Kidney Journal, 2020
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
Disease variants in genomes of 44 centenarians.
Freudenberg-Hua Y et al.
Molecular Genetics & Genomic Medicine, 2014
Forward genetics defines Xylt1 as a key, conserved regulator of early chondrocyte maturation and skeletal length.
Mis EK et al.
Developmental Biology, 2014
An association-adjusted consensus deleterious scheme to classify homozygous Mis-sense mutations for personal genome interpretation.
Preeprem T et al.
Biodata Mining, 2013
Genes and abdominal aortic aneurysm.
Hinterseher I et al.
Annals of Vascular Surgery, 2011
Pseudoxanthoma elasticum: molecular genetics and putative pathomechanisms.
Uitto J et al.
The Journal of Investigative Dermatology, 2010
In silico functional profiling of human disease-associated and polymorphic amino acid substitutions.
Mort M et al.
Human Mutation, 2010
The mineralization phenotype in Abcc6 ( -/- ) mice is affected by Ggcx gene deficiency and genetic background--a model for pseudoxanthoma elasticum.
Li Q et al.
Journal of Molecular Medicine (berlin, Germany), 2010
The xylosyltransferase Iota gene polymorphism c.343G>T (p.A115S) is associated with decreased serum glycosaminoglycan levels.
Ambrosius M et al.
Clinical Biochemistry, 2009
Identification of a xylosyltransferase II gene haplotype marker for diabetic nephropathy in type 1 diabetes.
Hendig D et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2008
Xylosyltransferase I variants and their impact on abdominal aortic aneurysms.
Götting C et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2008
The xylosyltransferase I gene polymorphism c.343G>T (p.A125S) is a risk factor for diabetic nephropathy in type 1 diabetes.
Schön S et al.
Diabetes Care, 2006
Polymorphisms in the xylosyltransferase genes cause higher serum XT-I activity in patients with pseudoxanthoma elasticum (PXE) and are involved in a severe disease course.
Schön S et al.
Journal of Medical Genetics, 2006
Novel sequence variants in the human xylosyltransferase I gene and their role in diabetic nephropathy.
Bahr C et al.
Diabetic Medicine : a Journal of the British Diabetic Association, 2006
Mutational and functional analyses of xylosyltransferases and their implication in osteoarthritis.
Schön S et al.
Osteoarthritis and Cartilage, 2006
Impact of polymorphisms in the genes encoding xylosyltransferase I and a homologue in type 1 diabetic patients with and without nephropathy.
Schön S et al.
Kidney International, 2005