PDZD7 and hearing loss: More than just a modifier.
Tehrān, Iran. In Am J Med Genet A, Dec 2015
We also describe a novel likely disease-causing mutation in CIB2 and illustrate the complexity associated with gene identification in diseases that exhibit large genetic and phenotypic heterogeneity.
Targeted next generation sequencing for molecular diagnosis of Usher syndrome.
Valencia, Spain. In Orphanet J Rare Dis, 2013
METHODS: A custom HaloPlex panel for Illumina platforms was designed to capture all exons of the 10 known causative Usher syndrome genes (MYO7A, USH1C, CDH23, PCDH15, USH1G, CIB2, USH2A, GPR98, DFNB31 and CLRN1), the two Usher syndrome-related genes (HARS and PDZD7) and the two candidate genes VEZT and MYO15A.
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Toronto, Canada. In G3 (bethesda), 2012
Several of the CGH-specific CNVs are rare in population frequency and impact previously reported ASD genes (e.g., NRXN1, GRM8, DPYD), as well as novel ASD candidate genes (e.g., CIB2, DAPP1, SAE1), and all were inherited except for a de novo CNV in the GPHN gene.
[Proliferative regulation in the cornea and lens].
Sapporo, Japan. In Nihon Ganka Gakkai Zasshi, 2003
To examine the involvement of the c-maf gene in the proliferation of the lens cells, eyes of the E13 and E18 stages of wild-type and c-maf-/- mice were analyzed by BrdU incorporation assay, TUNEL assay, and immunocytochemistry using an anti-P 27 (KIP 1) and an anti-P 57 (KIP 2) antibody.
Usher Syndrome Type I
Seattle, United States. In Unknown Journal, 2000
Mutation of genes at a minimum of nine different loci causes Usher syndrome type I. Genes at six of these loci – MYO7A (USH1B), USH1C, CDH23 (USH1D), PCDH15 (USH1F), USH1G, and CIB2 (USH1J) – have been identified.