Results 91 to 100 of about 2,527,901 (173)

SLC26A4 Targeted to the Endolymphatic Sac Rescues Hearing and Balance in Slc26a4 Mutant Mice [PDF]

, 2013
Mutations of SLC26A4 are a common cause of human hearing loss associated with enlargement of the vestibular aqueduct. SLC26A4 encodes pendrin, an anion exchanger expressed in a variety of epithelial cells in the cochlea, the vestibular labyrinth and the ...
Nelson, Raoul, Andrew J. Griffith (203364), Dominique Eladari (426531), Donald G. Harbidge (432940), Andrew J Griffith, Donald G Harbidge, Nicolas Picard, Tracy Miesner, Picard, Nicolas, Régine Chambrey, Raoul Nelson (432941), Régine Chambrey (432942), Xiangming Li, Nicolas Picard (259979), Joel D Sanneman, Chambrey, Régine, Harbidge, Donald G., Daniel C Marcus, Eladari, Dominique, Miesner, Tracy, Griffith, Andrew J., Marcus, Daniel C., Raoul Nelson, Fei Zhou, Daniel C. Marcus (261077), Taku Ito, Fei Zhou (86034), Philine Wangemann (13200), Ito, Taku, Taku Ito (203353), Philine Wangemann, Joel D. Sanneman (261074), Tracy Miesner (432943), Wangemann, Antje Philine, Li, Xiangming, Zhou, Fei, Xiangming Li (302018), Dominique Eladari, Sanneman, Joel D.   +38 more
core   +1 more source

Identification of PENDRIN (SLC26A4) mutations in patients with congenital hypothyroidism and "apparent" thyroid dysgenesis

, 2014
Context: Congenital hypothyroidism (CH), the most frequent endocrine congenital disease, can occur either based on a thyroid hormone biosynthesis defect or can predominantly be due to thyroid dysgenesis.
Turan, S., Froehler, S., Grueters, A., Kuehnen, P., Biebermann, H., Krude, H., Abali, S., Chen, W., Gueran, T., Bereket, A.   +9 more
core   +2 more sources

Comprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in China

Journal of Translational Medicine, 2009
Background Every year, 30,000 babies are born with congenital hearing impairment in China. The molecular etiology of hearing impairment in the Chinese population has not been investigated thoroughly.
Kang Dongyang, Yu Fei, Wang Qiang, Wang Yong, Cui Jinghong, Huang Deliang, You Yiwen, Yuan Yongyi, Yuan Huijun, Han Dongyi, Dai Pu   +10 more
doaj   +1 more source

Analysis of the c.757A>G p.(Ile253Val) variant of the SLC26A4 gene in GJB2-negative patients with hearing loss in Yakutia

Якутский медицинский журнал
In this work, we searched for the missense variant c.757A>G p.(Ile253Val) of the SLC26A4 gene in GJB2-negative patients with hearing loss (n=201) and in the control group of hearing individuals (n=103) in Yakutia.
V. G. Pshennikova, F. M. Teryutin, A. M. Cherdonova, T. V. Borisova, S. A. Fedorova, N. A. Barashkov   +5 more
doaj   +1 more source

Sgk1 Sensitive Pendrin Expression in Murine Platelets

Cellular Physiology and Biochemistry, 2013
Background: The anion exchanger pendrin (SLC26A4) is required for proper development of the inner ear, and contributes to iodide organification in thyroid glands as well as anion transport in various epithelia, such as airways and renal tubules.
Lisann Pelzl, Hajar Fakhri, Anja T. Umbach, Meinrad Gawaz, Markus Paulmichl, Florian Lang   +5 more
doaj   +1 more source

SLC26A4 C.317C > A Variant: Functional Analysis and Patient‐Derived Induced Pluripotent Stem Line Development

Molecular Genetics & Genomic Medicine
Background SLC26A4 is the second most common cause of hereditary hearing loss worldwide. This gene predominantly harbors pathogenic variants, including splice, nonsense, and missense.
Yijing Li, Tao Sun, Sang Hu, Hongen Xu, Teng Zhang, Jinlong Liu, Shuangshuang Lu, Bing Wang, Guo Dan   +8 more
doaj   +1 more source

A novel genotyping technique for discriminating LVAS-associated hotspot mutations in SLC26A4 gene

, 2020
Abstract An increasing number of biological and epidemiological evidence suggests that IVS7-2A>G and 2168A>G mutations of solute carrier family 26, member 4 ( SLC26A4 ) gene plays a critical role in the development of large vestibular aqueduct syndrome (LVAS).
Chen Zhou, Xiangman Zou, Cuiying Peng, Guoqiang Gao, Zifen Guo   +4 more
openaire   +1 more source

Distinct and novel SLC26A4/Pendrin mutations in Chinese and US patients with nonsyndromic hearing loss

, 2009
Dai P, Stewart AK, Chebib F, Hsu A, Rozenfeld J, Huang D, Kang D, Lip V, Fang H, Shao H, Liu X, Yu F, Yuan H, Kenna M, Miller DT, Shen Y, Yang W, Zelikovic I, Platt OS, Han D, Alper SL, Wu BL. Distinct and novel SLC26A4/Pendrin mutations in Chinese and U.
Shen, Yiping, Han, Dongyi, Fang, Hong, Miller, David T., Kenna, Margaret, Rozenfeld, Julia, Dai, Pu, Yang, Weiyan, Platt, Orah S., Kang, Dongyang, Zelikovic, Israel, Lip, Va, Liu, Xin, Stewart, Andrew K., Alper, Seth L., Liu, Xue, Chebib, Fouad, Wu, Bai-Lin, Huang, Deliang, Hsu, Ann, Yu, Fei, Shao, Hong, Yuan, Huijun   +22 more
core   +1 more source

SLC26A4 gene analysis in a group of Turkish patients

, 2005
Gene Analysis in a Group of Turkish PatientsCongenital or prelingual onset hearing loss affects 1 in 1000 newborns, half of which isconsidered to be caused by genetic factors.
Duman, Duygu Akçayöz
core  

Analysis of deafness susceptibility gene of neonates in northern Guangdong, China

Scientific Reports
This study aimed to explore the molecular epidemiology characteristics of deafness susceptibility genes in neonates in northern Guangdong and provide a scientific basis for deafness prevention and control.
Zhanzhong Ma, Wenbo Huang, Jing Xu, Jianwu Qiu, Yulan Liu, Meixian Ye, Shushu Fan   +6 more
doaj   +1 more source