Rabbit Anti-Human B3GAT3 (a.a. 1-335) Polyclonal antibody

Ehlers-Danlos syndrome (EDS) describes a group of clinical entities in which the connective tissue, primarily that of the skin, joint and vessels, is abnormal, although the resulting clinical manifestations can vary widely between the different historical subtypes. Many cases of hereditary disorders of connective tissue that do not seem to fit these historical subtypes exist. The aim of this study is to describe a large series of patients with inherited connective tissue disorders evaluated by our clinical genetics service and for whom a likely causal variant was identified. In addition to clinical phenotyping, patients underwent various genetic tests including molecular karyotyping, candidate gene analysis, autozygome analysis, and whole-exome and whole-genome sequencing as appropriate. We describe a cohort of 69 individuals representing 40 families, all referred because of suspicion of an inherited connective tissue disorder by their primary physician. Molecular lesions included variants in the previously published disease genes B3GALT6, GORAB, ZNF469, B3GAT3, ALDH18A1, FKBP14, PYCR1, CHST14 and SPARC with interesting variations on the published clinical phenotypes. We also describe the first recessive EDS-like condition to be caused by a recessive COL1A1 variant. In addition, exome capture in a familial case identified a homozygous truncating variant in a novel and compelling candidate gene, AEBP1. Finally, we also describe a distinct novel clinical syndrome of cutis laxa and marked facial features and propose ATP6V1E1 and ATP6V0D2 ( two subunits of vacuolar ATPase) as likely candidate genes based on whole-genome and whole-exome sequencing of the two families with this new clinical entity. Our study expands the clinical spectrum of hereditary disorders of connective tissue and adds three novel candidate genes including two that are associated with a highly distinct syndrome.

Liver cancer is one of the most malignant tumors with poor prognosis. Finding molecular markers that can predict prognosis is very important for the treatment of liver cancer. The present research is trying to find a new biomarker for human liver cancer. The analysis of abnormal expression genes and prognosis value on liver cancer by Gene Expression Profiling Interactive Analysis (GEPIA) database, the Pathology Atlas of the Human Protein Atlas (HPA), and Kaplan Meier-plotter (KM plotter), proved that B3GAT3 might be one of the important candidates. Furthermore, we investigated the specific role of B3GAT3 on liver cancer through the transfection of B3GAT3 siRNA in HepG2 cells. The proliferation was detected using CCK8, and migration and invasion were determined using Transwell assay. Our results proved that knockdown of B3GAT3 inhibited the proliferation, migration, and invasion. Moreover, B3GAT3 knockdown inhibited the expression of EMT related proteins, N-cad, Snail, and Twist, while promoting the expression of E-cad, suggesting that B3GAT3 knockdown reversed the EMT process of liver cancer cells. In conclusion, overexpressed B3GAT3 promotes the process of tumor EMT, which is an independent prognostic marker to predict the prognosis of liver cancer and might be a potential new target for liver cancer therapy.