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B3GAT3 gene

Known as: GLUCURONOSYLTRANSFERASE I, galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3, GlcAT-I 
National Institutes of Health

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2 relations
B3GAT1 geneGalactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2020
2020
Pseudodiastrophic dysplasia expands the known phenotypic spectrum of defects in proteoglycan biosynthesis
Background Pseudodiastrophic dysplasia (PDD) is a severe skeletal dysplasia associated with prenatal manifestation and early… 
2019
2019
High Expression B3GAT3 Is Related with Poor Prognosis of Liver Cancer
Abstract Liver cancer is one of the most malignant tumors with poor prognosis. Finding molecular markers that can predict… 
2017
2017
B3GAT3-related disorder with craniosynostosis and bone fragility due to a unique mutation
PurposeBased on prenatal suspicion of the combination of radioulnar or radiohumeral synostosis and a peculiar shape of the skull… 
2017
2017
Novel Splicing Mutation in B3GAT3 Associated with Short Stature, GH Deficiency, Hypoglycaemia, Developmental Delay, and Multiple Congenital Anomalies
B3GAT3, encoding β-1,3-glucuronyltransferase 3, has an important role in proteoglycan biosynthesis. Homozygous B3GAT3 mutations… 
2016
2016
Functional validation of novel compound heterozygous variants in B3GAT3 resulting in severe osteopenia and fractures: expanding the disease phenotype
BackgroundA new disease class of syndromes, described as linkeropathies, which are derived from defects in the glycosaminoglycan… 
2015
2015
Skeletal dysplasia with short stature and a Larsen-like phenotype due to a homozygous mutation in B3GAT3
1. Von Oettingen J, Tan WH, Dauber A. 2014: Am.J. Med. Genet 164A,1580-6 2. Baasanjav S, Al-Gazali L, Hashiguchi T et al. , Am J… 
2015
2015
Skeletal dysplasia in a consanguineous clan from the island of Nias/Indonesia is caused by a novel mutation in B3GAT3
We describe a large family with disproportionate short stature and bone dysplasia from Nias in which we observed differences in… 
Review
2014
Review
2014
Human Genetic Disorders and Knockout Mice Deficient in Glycosaminoglycan
Glycosaminoglycans (GAGs) are constructed through the stepwise addition of respective monosaccharides by various… 
Highly Cited
2011
Highly Cited
2011
Faulty initiation of proteoglycan synthesis causes cardiac and joint defects.
2004
2004
Temperature-sensitive Glycosaminoglycan Biosynthesis in a Chinese Hamster Ovary Cell Mutant Containing a Point Mutation in Glucuronyltransferase I*
In previous studies, we reported the isolation and characterization of a Chinese hamster ovary cell mutant (pgsG) defective in… 
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