Results 51 to 60 of about 8,863 (195)

Epithelial cell stretching and luminal acidification lead to a retarded development of stria vascularis and deafness in mice lacking pendrin. [PDF]

PLoS ONE, 2011
Loss-of-function mutations of SLC26A4/pendrin are among the most prevalent causes of deafness. Deafness and vestibular dysfunction in the corresponding mouse model, Slc26a4(-/-), are associated with an enlargement and acidification of the membranous ...
Hyoung-Mi Kim, Philine Wangemann
doaj   +1 more source

Heterogeneity in the processing defect of SLC26A4 mutants

Journal of Medical Genetics, 2008
Background: Mutations in the SLC26A4 gene are responsible for Pendred syndrome and non-syndromic hearing loss (DFNB4). This study analysed non-synonymous SLC26A4 mutations newly identified in East Asians, as well as three common mutations in Caucasians, to characterise their molecular pathogenic mechanisms and to ...
J S, Yoon, H-J, Park, S-Y, Yoo, W, Namkung, M J, Jo, S K, Koo, H-Y, Park, W-S, Lee, K H, Kim, M G, Lee   +9 more
openaire   +3 more sources

Versatility of NaCl transport mechanisms in the cortical collecting duct [PDF]

, 2017
Versatility of NaCl transport mechanisms in the cortical collecting duct. Am J Physiol Renal Physiol 313: F1254 –F1263, 2017. First published September 6, 2017; doi:10.1152/ajprenal.00369.2017.—The cortical collecting duct (CCD) forms part of the ...
Crambert, Gilles, Edwards, Aurelie
core   +1 more source

SLC26A4 correlates with homologous recombination deficiency and patient prognosis in prostate cancer

Journal of Translational Medicine, 2022
Abstract Background Homologous recombination deficiency (HRD) is closely associated with patient prognosis and treatment options in prostate cancer (PCa). However, there is a lack of quantitative indicators related to HRD to predict the prognosis of PCa accurately.
Cong Luo, Zhi Liu, Yu Gan, Xiaomei Gao, Xiongbing Zu, Ye Zhang, Wenrui Ye, Yi Cai   +7 more
openaire   +3 more sources

Mutation screening of the SLC26A4 gene in a cohort of 192 Chinese patients with congenital hypothyroidism

Archives of Endocrinology and Metabolism, 2016
Objective Pendred syndrome (PS) is an autosomal recessive disorder characterised by sensorineural hearing loss and thyroid dyshormonogenesis. It is caused by biallelic mutations in the SLC26A4 gene encoding for pendrin.
Chunyun Fu, Haiyang Zheng, Shujie Zhang, Yun Chen, Jiasun Su, Jin Wang, Bobo Xie, Xuyun Hu, Xin Fan, Jingsi Luo, Chuan Li, Rongyu Chen, Yiping Shen, Shaoke Chen   +13 more
doaj   +1 more source

The iodide transporter Slc26a7 impacts thyroid function more strongly than Slc26a4 in mice

Scientific Reports, 2022
SLC26A4 is a known iodide transporter, and is localized at the apical membrane of thyrocytes. Previously, we reported that SLC26A7 is also involved in iodide transport and that Slc26a7 is a novel causative gene for congenital hypothyroidism. However, its
Naoya Yamaguchi, Atsushi Suzuki, Aya Yoshida, Tatsushi Tanaka, Kohei Aoyama, Hisashi Oishi, Yuichiro Hara, Tomoo Ogi, Izuki Amano, Satomi Kameo, Noriyuki Koibuchi, Yasuhiro Shibata, Shinya Ugawa, Haruo Mizuno, Shinji Saitoh   +14 more
doaj   +1 more source

Molecular epidemiology and functional assessment of novel allelic variants of SLC26A4 in non-syndromic hearing loss patients with enlarged vestibular aqueduct in China.

PLoS ONE, 2012
BackgroundMutations in SLC26A4, which encodes pendrin, are a common cause of deafness. SLC26A4 mutations are responsible for Pendred syndrome and non-syndromic enlarged vestibular aqueduct (EVA).
Yongyi Yuan, Weiwei Guo, Jie Tang, Guozheng Zhang, Guojian Wang, Mingyu Han, Xun Zhang, Shiming Yang, David Z Z He, Pu Dai   +9 more
doaj   +1 more source

Intrafamilial phenotypic variability in families with biallelic SLC26A4 mutations

The Laryngoscope, 2013
Objectives/HypothesisEnlarged vestibular aqueduct (EVA) and hearing loss are known to be caused by SLC26A4 mutations, but large phenotypic variability exists among patients with biallelic SLC26A4 mutations. Intrafamilial phenotypic variability was analyzed in multiplex EVA families carrying biallelic SLC26A4 mutations to identify the contribution of ...
Mee Hyun, Song, Joong-Wook, Shin, Hong-Joon, Park, Kyung-A, Lee, Yoonjung, Kim, Un-Kyung, Kim, Ju Hyun, Jeon, Jae Young, Choi   +7 more
openaire   +3 more sources

NaCl Restriction Upregulates Renal Slc26a4 Through Subcellular Redistribution [PDF]

Hypertension, 2004
Slc26a4 (Pds , pendrin) is an anion transporter expressed in the apical region of type B and non-A, non-B intercalated cells of the distal nephron. It is upregulated by aldosterone analogues and is critical in the development of mineralocorticoid-induced hypertension.
Susan M, Wall, Young Hee, Kim, Lorraine, Stanley, Dawn M, Glapion, Lorraine A, Everett, Eric D, Green, Jill W, Verlander   +6 more
openaire   +2 more sources

Macrophage invasion contributes to degeneration of stria vascularis in Pendred syndrome mouse model

BMC Medicine, 2006
Background Pendred syndrome, an autosomal-recessive disorder characterized by deafness and goiter, is caused by a mutation of SLC26A4, which codes for the anion exchanger pendrin.
Everett Lorraine A, Wall Susan M, Fleming Sherry, Maganti Rajanikanth J, Singh Ruchira, Oelke Alisha, Jabba Sairam V, Green Eric D, Wangemann Philine   +8 more
doaj   +1 more source