Using exome sequencing we found a missense variant (r.206A>T leading to p.Asp69Val) in the TBL1Y gene. TBL1Y is homologous of TBL1X, whose partial deletion has described to be involved in X-linked hearing loss. Here, we demonstrate that it has a restricted expression in adult human...
Deafness is a really common disorder in humans. It can begin at any age with any degree of severity. Hereditary hearing loss is characterized by a vast genetic heterogeneity with more than 140 loci described in humans but only 65 genes so far identified. Families affected by hearing impairment...
库存:现货 规格 产品信息 Catalog No. :IMB1441 Reactivity:Human;Mouse;Rat;Dog;Pig Applications:WB Gene Name:TBL1Y Protein Name:F-box-like/WD repeat-containing protein TBL1Y Human Gene Id:90665 Swiss-Prot:Q9BQ87 Formulation:PurIF:ied mouse monoclonal in buffer containing 0.1M Tris-Glycine (pH...
Moreover, we show novel single nucleotide polymor- phisms (SNPs) in the TBL1Y gene and discuss the evolutionary significance of TBL1Y. Materials and methods Cell culture The NT2/D1 cells and HTC116 cells, which were origi- nally derived from human testicular embryonal cell carcinoma and ...
Recently, it has been shown that TBLR1, another homologue whose gene resides on chromosome 3, and TBL1X act as a corepressor/coactivator exchanger for several nuclear receptors and transcription factors. However, the expression pattern and function of TBL1Y remain unknown. The RT-PCR analysis ...
This document provides methods and materials involved in detecting translocations of TBL1XR1 and TP63 nucleic acid. For example, methods and materials for detecting TBL1XR1 and TP63 gene rearrangements (e.g., translocations) associated with cancer (e.g., T-cell lymphomas) as well as methods...