Non-USH2A mutations in USH2 patients.
Montpellier, France. In Hum Mutat, Mar 2012
We have systematically analyzed the two known minor genes involved in Usher syndrome type 2, DFNB31 and GPR98, for mutations in a cohort of 31 patients not linked to USH2A.
Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.
London, United Kingdom. In J Med Genet, 2012
METHODS: The genes MYO7A, USH1C, CDH23, PCDH15, USH1G, USH2A, GPR98, WHRN, CLRN1 and the candidate gene SLC4A7 were sequenced in 172 UK Usher patients, regardless of clinical type.
The role of the MAGUK protein CASK in neural development and synaptic function.
Taipei, Taiwan. In Curr Med Chem, 2005
These proteins, whose interactions with CASK are reviewed here, include the Parkinson's disease molecule parkin, the adhesion molecule neurexin, syndecans, calcium channel proteins, the cytoplasmic adaptor protein Mint1, Veli/mLIN-7/MALS, SAP97, caskin and CIP98, transcription factor Tbr-1, and nucleosome assembly protein CINAP.