Genetics of non-syndromic hearing loss in the Middle East.
Tehrān, Iran. In Int J Pediatr Otorhinolaryngol, 04 Oct 2014
Non-syndromic deafness is highly heterogeneous and mutations in the GJB2 are responsible for almost 30-50% in northwest to as low as 0-5% in south and southeast of the Middle East, it remain as major gene in ARNSHL in Middle East.
Strategy for the customized mass screening of genetic sensorineural hearing loss in koreans.
Seoul, South Korea. In Korean J Audiol, 30 Sep 2014
The other causative genes were MRNR1, WFS1, COCH, TECTA, MYO6, COL11A2, EYA4, GJB3, OTOF, STRC, MYO3A, and GJB2.
Kinetic modulation of a disordered protein domain by phosphorylation.
Barcelona, Spain. In Nat Commun, Dec 2013
Here we determine the kinetics and energetics of a disordered protein domain the kinase-inducible domain (KID) of the transcription factor CREB and that of its phosphorylated form pKID, using high-throughput molecular dynamic simulations.
[Hearing loss associated with GJB2 gene mutation].
In Lin Chuang Er Bi Yan Hou Ke Za Zhi, Oct 2013
The mutation of GJB2 (gap junction protein, beta 2) gene accounts for 80% of NSHL and more than 50% of children NSHL, playing the most important role in deafness genes.