Digenic mutations involving both the BSND and GJB2 genes detected in Bartter syndrome type IV.

Bartter syndrome type IV, characterized by salt-losing nephropathies and sensorineural deafness, is caused by mutations of BSND or simultaneous mutations of both CLCNKA and CLCNKB. GJB2 is the primary causative gene for non-syndromic sensorineural deafness and associated with several syndromic sensorineural deafness. Owing to the rarity of Bartter syndrome, only a few mutations have been reported in the abovementioned causative genes.

Osteopontin expression in nasopharyngeal carcinoma: its relevance to the clinical stage of the disease.

Purpose: To investigate osteopontin (OPN) expression in human nasopharyngeal carcinoma (NPC) and evaluate its clinical significance in the disease.

Materials And Methods: The expression of OPN mRNA in 44 frozen NPC tissue and 15 normal nasopharyngeal epithelium tissue (NNET) samples was examined by semi-quantitative reverse transcriptase polymerase chain reaction (qRT-PCR). OPN protein expression in 67 paraffin-embedded NPC tissue and 21 NNET samples was detected by immunohistochemistry (IHC).

Identification of Galectin-1 as a novel biomarker in nasopharyngeal carcinoma by proteomic analysis.

Nasopharyngeal carcinoma (NPC) is one of the most common malignant tumors in southern China and Southeast Asia. It is characterized as a multistep process involved in multiple genetic and epigenetic events. The mechanism of carcinogenesis still needs to be further clarified.