The structure of EXTL3 helps to explain the different roles of bi-domain exostosins in heparan sulfate synthesis
Heparan sulfate is a highly modified O-linked glycan that performs diverse physiological
roles in animal tissues. Though quickly modified, it is initially synthesised as a …
roles in animal tissues. Though quickly modified, it is initially synthesised as a …
Primary and secondary defects of the thymus
SS Dinges, K Amini, LD Notarangelo… - Immunological …, 2024 - Wiley Online Library
The thymus is the primary site of T‐cell development, enabling generation, and selection of
a diverse repertoire of T cells that recognize non‐self, whilst remaining tolerant to self …
a diverse repertoire of T cells that recognize non‐self, whilst remaining tolerant to self …
EXTL3-Associated Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities: A Lethal Phenotype
E Demir, F Adım, ME Döğen, A Aydoğdu… - Pediatric Allergy …, 2023 - liebertpub.com
Background: Immunoskeletal dysplasia with neurodevelopmental abnormalities (ISDNA)
caused by Exostosin-Like Glycosyltransferase 3 (EXTL3) biallelic mutations is a very rare …
caused by Exostosin-Like Glycosyltransferase 3 (EXTL3) biallelic mutations is a very rare …
Immune skeletal dysplasia with neurodevelopmental abnormalities caused by a novel variant of EXTL3 gene in a Chinese family
X Tian, X Zhang, Q Zhang, X Chen… - … Genetics & Genomic …, 2024 - Wiley Online Library
Background Immune skeletal dysplasia with neurodevelopmental abnormalities (ISDNA) is
an extremely rare, autosomal recessive genetic disorder characterized by various skeletal …
an extremely rare, autosomal recessive genetic disorder characterized by various skeletal …
The structure of EXTL3 helps to explain the different roles of bi-domain exostosins in heparan sulfate synthesis
Heparan sulfate is a highly modified O-linked glycan that performs diverse physiological
roles in animal tissues. Though quickly modified, it is initially synthesised as a …
roles in animal tissues. Though quickly modified, it is initially synthesised as a …