Deafness gene mutations in newborns in Beijing.
Beijing, China. In Acta Otolaryngol, Feb 2016
Study sample This study tested 37 573 newborns within 3 days after birth, including nine sites in four genes: GJB2 (35 del G, 176 del 16, 235 del C, 299 del AT), SLC26A4 (IVS7-2 A > G, 2168 A > G), MTRNR1 (1555 A > G, 1494 C > T), and GJB3 (538 C > T).
Connexin channels in congenital skin disorders.
New Haven, United States. In Semin Cell Dev Biol, Feb 2016
In palmoplantar keratoderma with deafness, the connexin 26 mutations transdominantly alter the function of wild-type connexin 43 and create leaky heteromeric hemichannels.
Genetics of Hearing Loss-Nonsyndromic.
Stanford, United States. In Otolaryngol Clin North Am, Dec 2015
Although AR nonsyndromic SNHL is most commonly caused by GJB2 and SLC26A4, there is no single gene that accounts for any significant proportion of AD SNHL.
PPARγ: Welcoming the New Kid on the CML Stem Cell Block.
San Francisco, United States. In Cancer Cell, Nov 2015
Recently, chronic myeloid leukemia (CML) patients already responding to treatment showed improved molecular responses with pioglitazone, presumably through PPARγ activation and CML stem cell eradication.