Associated Papers
B3GALT6 mutations lead to compromised connective tissue biomechanics in Ehlers-Danlos syndrome.
Diana RM et al.
Jci Insight, 2025
Alterations in glycosaminoglycan biosynthesis associated with the Ehlers-Danlos syndromes.
Syx D et al.
American Journal of Physiology. Cell Physiology, 2022
Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.
Barbosa P et al.
Frontiers in Cardiovascular Medicine, 2022
36061567 (PubMed )
Supplement: Table_1.XLSX › Table_S6
Identification of HLA class I-restricted immunogenic neoantigens in triple negative breast cancer.
Aparicio B et al.
Frontiers in Immunology, 2022
36405725 (PubMed )
Supplement: Table_1.xlsx › P73
Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)-B4GALT7 and Spondylodysplastic-EDS-B3GALT6.
Caraffi SG et al.
Genes, 2019
A B3GALT6 variant in patient originally described as Al-Gazali syndrome and implicating the endoplasmic reticulum quality control in the mechanism of some β3GalT6-pathy mutations.
Ben-Mahmoud A et al.
Clinical Genetics, 2018
The Ehlers-Danlos syndromes, rare types.
Brady AF et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2017
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
27527004 (PubMed )
Supplement: srep31321-s3.xls › NovelVar
Insights in the etiopathology of galactosyltransferase II (GalT-II) deficiency from transcriptome-wide expression profiling of skin fibroblasts of two sisters with compound heterozygosity for two novel B3GALT6 mutations.
Ritelli M et al.
Molecular Genetics and Metabolism Reports, 2015
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