¹H, ¹⁵N, and ¹³C chemical shift assignments of murine calcium-binding protein 4.
Davis, United States. In Biomol Nmr Assign, 2014
Calcium-binding protein 4 (CaBP4) regulates voltage-gated Ca(2+) channels in retinal rod cells and specific mutations within CaBP4 are associated with congenital stationary night blindness type 2. We report complete NMR chemical shift assignments of the Ca(2+)-saturated form of CaBP4 with Ca(2+) bound at EF1, EF3 and EF4 (BMRB no.
ZRANB2 localizes to supraspliceosomes and influences the alternative splicing of multiple genes in the transcriptome.
Sydney, Australia. In Mol Biol Rep, 2013
At the FDR ≤1.3 significance level we found that ZRANB2 influenced the alternative splicing of primary transcripts of CENTB1, WDR78, C10orf18, CABP4, SMARCC2, SPATA13, OR4C6, ZNF263, CAPN10, SALL1, ST18 and ZP2.
Clinical characterisation of the CABP4-related retinal phenotype.
Riyadh, Saudi Arabia. In Br J Ophthalmol, 2013
BACKGROUND: Calcium binding protein 4 (CABP4), specifically located in photoreceptor synaptic terminals, has been associated with congenital stationary night blindness based on this clinical diagnosis being made for three individuals from two Swiss families with CABP4 mutations; however, the few reported cases limit phenotype-genotype correlation.
Genotyping microarray for CSNB-associated genes.
Zürich, Switzerland. In Invest Ophthalmol Vis Sci, 2009
Subsequently, oligonucleotides were designed representing 126 sequence variations in RHO, CABP4, CACNA1F, CACNA2D4, GNAT1, GRM6, NYX, PDE6B, and SAG and spotted on the chip.