AIM To study the genotype phenotype correlation in Wilson's disease (WD) patients within families. METHODS We report four unrelated families from South India with nine members affected with WD. Phenotype was classified as per international consensus phenotypic classification of WD. DNA was extracted from peripheral blood and 21 exons of ATP7B gene and flanking introns were amplified by polyme...

Aberrant biliary anatomy is not uncommon. Isolated aberrant segment V duct extremely rare. We report a case of isolated injury during laparoscopic cholecystectomy.

In past years, several Chlamydia-related bacteria have been discovered, including Simkania negevensis, the founding member of the Simkaniaceae family. We evaluated the antimicrobial susceptibility patterns of this emerging intracellular bacterium and highlighted significant differences, compared with related Chlamydiales members. S. negevensis was susceptible to macrolides, clindamycin, cycline...

Pathological aggregation of the microtubule-associated protein tau is a common feature of many neurodegenerative diseases. Although tau aggregation is associated with abnormal tau phosphorylation, the role of phosphorylation in the initiation of neurodegeneration has been unclear. Now, several animal models and data from human patients provide converging evidence that aberrant tau phosphorylati...

Transcription of the dnaA gene of the cyanobacterium Synechocystis sp. strain PCC 6803 is light dependent and yields a monocistronic mRNA, as determined by Northern analysis. Surprisingly, mutants with inactivated dnaA were viable. In batch cultures under standard conditions, the mutants grew like the wild type and did not show an aberrant phenotype. We conclude that, unlike the situation in ot...

Drosophila models of tauopathies have been developed by transgenically overexpressing the disease-associated forms of tau. In this paper we report for the first time that a recently developed Grape-Seed Polyphenolic Extract (GSPE) improves the eye phenotype of a Drosophila eye model of R406W tau. GSPE-mediated improvements in this distinct in vivo neurodegeneration model for protein misfolding/...

Multiple lines of evidence implicate steroid hormone and growth factor cross-talk as a modulator of endocrine response in breast cancer and that aberrations in growth factor signaling pathways are a common element in the endocrine resistant phenotype. Delineation of these relationships is thus an important diagnostic goal in cancer research, while the targeting of aberrant growth factor signali...

Development of a few but relevant connections is crucial for the proper functioning of the early hippocampus. Unnecessary and redundant sprouting can result in excessive activity leading to the anxiety-like behavior later in life. Aberrant connections observed in the female mice lacking 5-HT1Areceptor can be corrected by using a selective activator of PKC epsilon isoform, a downstream molecule ...

DBASS3 and DBASS5 provide comprehensive repositories of new exon boundaries that were induced by pathogenic mutations in human disease genes. Aberrant 5'- and 3'-splice sites were activated either by mutations in the consensus sequences of natural exon-intron junctions (cryptic sites) or elsewhere ('de novo' sites). DBASS3 and DBASS5 currently contain approximately 900 records of cryptic and de...