Results 81 to 90 of about 7,994 (153)

Contribution of SLC26A4 to the molecular diagnosis of nonsyndromic prelingual sensorineural hearing loss in a Brazilian cohort

BMC Research Notes, 2018
Objective Hereditary hearing loss (HL) is the most common sensorineural disorder in humans. Besides mutations in GJB2 and GJB6 genes, pathogenic variants in the SLC26A4 gene have been reported as a cause of hereditary HL due to its role in the physiology
Simone da Costa e Silva Carvalho, Carlos Henrique Paiva Grangeiro, Clarissa Gondim Picanço-Albuquerque, Thaís Oliveira dos Anjos, Greice Andreotti De Molfetta, Wilson Araujo Silva, Victor Evangelista de Faria Ferraz   +6 more
doaj   +1 more source

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

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

Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness

, 2003
Recessive mutations of SLC26A4 ( PDS ) are a common cause of Pendred syndrome and non-syndromic deafness in western populations. Although south and east Asia contain nearly one half of the global population, the origins and frequencies of SLC26A4 ...
Shaukat, S, Liu, X, Khan, S, Pandya, A, Abe, S, Moon, S, Radnaabazar, J, Usami, S, Nance, W, Griffith, A, Riazuddin, S, Tukamoto, K, Kim, H, Naz, S, Hahn, S, Erdenetungalag, R, Park, H, Kabra, M, Wilcox, E, Ghosh, M   +19 more
core   +1 more source

Two novel SLC26A4 mutations in Iranian families with autosomal recessive hearing loss [PDF]

, 2012
Objective: Due to the fact that SLC26A4 has been suggested as the second cause of hearing loss (HL) in Iran as well as many other countries, obtaining more comprehensive information about SLC26A4 mutations can facilitate more efficient genetic services ...
Hosseinipour, Azam., Noormohammadi, Zahra., Tabatabaiefar, Mohammad Amin., Najmabadi, Hossein., Shahbazi, Shirin., Yazdanpanahi, Nasrin., Farrokhi, Effat., Hashemzadeh-Chaleshtori, Morteza.   +7 more
core   +1 more source

The SLC26A4-AS1/NTRK2 axis in breast cancer: insights into the ceRNA network and implications for prognosis and immune microenvironment

Discover Oncology
Breast cancer is a leading malignancy in women, with mortality disparities between developed and underdeveloped regions. Accumulating evidence suggests that the competitive endogenous RNA (ceRNA) regulatory networks play paramount roles in various human ...
Mengqiu Lan, Shuang Qin, Jingjing Wei, Lihong Wu, Zhenni Lu, Wenjie Huang   +5 more
doaj   +1 more source

Mutation Identification in Exon 10 of SLC26A4 Gene in Individuals with Hearing Loss in Guilan Province

Bihdād, 2020
Introduction: Mutation in SLC26A4 gene is one of reason of syndromic and non-syndomic hearing loss. Mutation in this gene is reported to be the second most common cause of deafness in the worldwide, after GJB2 gene.
Omid Rezaei, Najmeh Ranji, Zeinab Khazaei Koohpar   +2 more
doaj  

Mutations in the SLC26A4 (pendrin) gene in patients with sensorineural deafness and enlarged vestibular aqueduct

, 2004
Pendred syndrome and the enlarged vestibular aqueduct (EVA) are considered phenotypic variations of the same entity due to mutations in the SLC26A4 (pendrin) gene.
Bogazzi F., Bartalena L., BERRETTINI, STEFANO, BERRETTINI S, Grasso L., MARIOTTI S, BOGAZZI, FAUSTO, ULTIMIERI F, MARTINO E., Pinchera A., Raggi F., PINCHERA A, Ultimieri F., Russo D., FORLI F, MARIOTTI, STEFANO, Berrettini S., GRASSO, LUCIA, BOGAZZI F, BARTALENA, LUIGI, GRASSO L, Forli F., RUSSO D, RAGGI F, MARTINO, ENIO, BARTALENA L, CECCARELLI C, Ceccarelli C., Mariotti S.   +28 more
core   +1 more source

A systematic review of SLC26A4 mutations causing hearing loss in the Iranian population

, 2019
Objectives: The genetics of sensorineural hearing loss is characterized by a high degree of heterogeneity. In spite of this, mutations in the SLC26A4 gene, have been reported to be the second most common contributor after those of GJB2 in many ...
Koohiyan, Mahboobeh
core   +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