Genome-Wide Analysis of DNA Methylation and Cigarette Smoking in Chinese.
Wuhan, China. In Environ Health Perspect, Feb 2016
Of these smoking-related CpGs, methylation levels at 80 CpGs showed significant correlations with the expression of corresponding genes (including RUNX3, IL6R, PTAFR, ANKRD11, CEP135 and CDH23), and methylation at 15 CpGs were significantly associated with urinary 2-hydroxynaphthalene, the most representative internal monohydroxy-PAHs biomarker for smoking.
The Genetics of Deafness in Domestic Animals.
Baton Rouge, United States. In Front Vet Sci, 2014
Across species, the genes identified with deafness or white pigmentation patterns include MITF, PMEL, KIT, EDNRB, CDH23, TYR, and TRPM1 in dog, cat, horse, cow, pig, sheep, ferret, mink, camelid, and rabbit.
Comprehensive Analysis of Deafness Genes in Families with Autosomal Recessive Nonsyndromic Hearing Loss.
İzmir, Turkey. In Plos One, 2014
Remaining 14 families had 15 different variants in other known NSHL genes (MYO7A, MYO15A, MARVELD2, TMIE, DFNB31, LOXHD1, GPSM2, TMC1, USH1G, CDH23).
Usher protein functions in hair cells and photoreceptors.
Omaha, United States. In Int J Biochem Cell Biol, 2014
In mature hair cells, homodimers of the Usher cadherins, cadherin 23 and protocadherin 15, interact to form a structural fiber, the tip link, and the linkages that anchor the taller stereocilia's actin cytoskeleton core to the shorter adjacent stereocilia and the elusive mechanotransduction channels, explaining the deafness phenotype when these molecular interactions are perturbed.
Modification of human hearing loss by plasma-membrane calcium pump PMCA2.
Rockville, United States. In N Engl J Med, 2005
Genetic evaluation revealed that a homozygous mutation in CDH23 (which encodes cadherin 23) caused the hearing loss in all five siblings and that a heterozygous, hypofunctional variant (V586M) in plasma-membrane calcium pump PMCA2, which is encoded by ATP2B2, was associated with increased loss in the three severely affected siblings.