The generation of various phosphoinositide messenger molecules at distinct locations within the cell is mediated via the specific targeting of different isoforms and splice variants of phosphoinositide kinases. The lipid messenger PtdIns(4,5)P(2) is generated by several of these enzymes when targeted to distinct cellular compartments. Several splice variants of the type Igamma isoform of PIPK (...

Genetic variants in MYBPC3 are one of the most common causes hypertrophic cardiomyopathy (HCM). While affecting canonical splice site dinucleotides a well-characterised cause HCM, only recently has work begun to investigate pathogenicity more deeply intronic variants. Here, we present three patients with HCM and splice-affecting analyse impact on splicing using vitro minigene assays. We show th...

Although reduced levels of the epithelial cell adhesion molecule E-cadherin are often associated with poorly differentiated breast cancers, recent studies show that expression of other cadherins such as N-cadherin, P-cadherin, and the mesenchymal cadherin-11 is actually elevated in invasive breast cancers and cell lines. Cadherin-11 is unique among cadherins in that it exists as two alternative...

Although reduced levels of the epithelial cell adhesion molecule Ecadherin are often associated with poorly differentiated breast cancers, recent studies show that expression of other cadherins such as N-cadherin, P-cadherin, and the mesenchymal cadherin-11 is actually elevated in invasive breast cancers and cell lines. Cadherin-11 is unique among cadherins in that it exists as two alternativel...

Information theory-based software tools have been useful in interpreting noncoding sequence variation within functional sequence elements such as splice sites. Individual information analysis detects activated cryptic splice sites and associated splicing regulatory sites and is capable of distinguishing null from partially functional alleles. We present a server (https://splice.cmh.edu) designe...

hereditary ataxias are heterogeneous group of neurodegenerative disorders classified mainly into more than 40 autosomal dominant cerebellar ataxias and 50 recessive ataxias. large amount of nearly uncommon subtypes with extensive phenotypic overlap and relatively high rate of abnormal repetitive sequence expansions, such as trinucleotide repeat expansions make diagnostic genetic testing complic...

Resistance of prostate cancer (CaP) cells to the next generation anti-androgen, Enzalutamide, may be mediated by a multitude of survival signaling pathways. In this study we tested whether increased expression of NF-κB2/p52 induces CaP cell resistance to Enzalutamide and whether this response is mediated by aberrant androgen receptor (AR) activation and AR splice variant production. LNCaP cells...