Mutations in the heparan sulfate backbone elongating enzymes EXT1 and EXT2 have no major effect on endothelial glycocalyx and the glomerular filtration barrier
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics and Genomics"
DOI: 10.1007/s00438-022-01854-w
Abstract: In this study, the effect of heterozygous germline mutations in the heparan sulfate (HS) glycosaminoglycan chain co-polymerases EXT1 and EXT2 on glomerular barrier function and the endothelial glycocalyx in humans is investigated. Heparan sulfate (HS)… read more here.
Keywords: glycocalyx; heparan sulfate; ext1 ext2; endothelial glycocalyx ... See more keywords
A Target Antigen-Based Approach to the Classification of Membranous Nephropathy.
Sign Up to like & getrecommendations! Published in 2021 at "Mayo Clinic proceedings"
DOI: 10.1016/j.mayocp.2020.11.028
Abstract: OBJECTIVE To describe the clinical and pathological phenotype of membranous nephropathy (MN) associated with M-type-phospholipase-A2-receptor (PLA2R), thrombospondin-type-1-domain-containing-7A (THSD7A), semaphorin 3B (SEMA3B), neural-epidermal-growth-factor-like-1-protein (NELL-1), protocadherin 7 (PCDH7), exostosin 1/exostosin 2 (EXT1/EXT2) and neural cell adhesion molecule… read more here.
Keywords: disease; target; membranous nephropathy; target antigen ... See more keywords
In Patients with Membranous Lupus Nephritis, Exostosin-Positivity and Exostosin-Negativity Represent Two Different Phenotypes.
Sign Up to like & getrecommendations! Published in 2021 at "Journal of the American Society of Nephrology : JASN"
DOI: 10.1681/asn.2020081181
Abstract: BACKGROUND In patients with secondary (autoimmune) membranous nephropathy, two novel proteins, Exostosin 1 and Exostosin 2 (EXT1/EXT2), are potential disease antigens, biomarkers, or both. In this study, we validate the EXT1/EXT2 findings in a large… read more here.
Keywords: membranous lupus; ext2 positive; lupus nephritis; ext1 ext2 ... See more keywords
Clinical and Genetic Analysis of Multiple Osteochondromas in a Cohort of Argentine Patients
Sign Up to like & getrecommendations! Published in 2022 at "Genes"
DOI: 10.3390/genes13112063
Abstract: Multiple Osteochondromatosis (MO, MIM 133700 & 133701), an autosomal dominant O-glycosylation disorder (EXT1/EXT2-CDG), can be associated with a reduction in skeletal growth, bony deformity, restricted joint motion, shortened stature and pathogenic variants in two tumor… read more here.
Keywords: pathogenic variants; ext1 ext2; clinical genetic; analysis multiple ... See more keywords