Results 1 to 10 of about 8,794 (137)

Genetic heterogeneity in patients with enlarged vestibular aqueduct and Pendred syndrome [PDF]

Molecular Medicine
Background Pathogenic variants in the SLC26A4 gene, encoding for Cl−/HCO3 − and I− anion transporter pendrin, are associated with non-syndromic hearing loss with enlarged vestibular aqueduct (NSEVA) and Pendred syndrome (PDS). In the Caucasian population,
Marek Sklenar, Silvia Borecka, Lukas Varga, Emanuele Bernardinelli, Juraj Stanik, Martina Skopkova, Miroslav Sabo, Diana Ugorova, Silvia Dossena, Daniela Gasperikova   +9 more
doaj   +2 more sources

SLC26A4 regulates autophagy and activates the NLRP3 inflammasome to mediate pathological cardiac hypertrophy [PDF]

Scientific Reports
Solute carrier family 26 member 4 (SLC26A4) plays an essential role in the progression of pathological cardiac hypertrophy. This study aimed to examine the involvement of SLC26A4 in cardiac hypertrophy by regulation of autophagy and activation of the NOD-
Li-qun Tang, Ling-ling Wang, Qi-feng Tang, Wei Wang   +3 more
doaj   +2 more sources

Comparative genomic profiling of SLC26A4-expressing cells in the inner ear and other organs. [PDF]

PLoS ONE
Pendred syndrome and autosomal recessive non-syndromic hearing loss, type 4 (DFNB4), are associated with mutations in SLC26A4 that encodes the anion transporter SLC26A4 (pendrin).
Keiji Honda, Akimasa Kajino, Takeshi Tsutsumi   +2 more
doaj   +2 more sources

Diagnostic Value of Plasma Long Non-coding SLC26A4 Antisense RNA 1 Combined with Magnetic Resonance Imaging in Rectal Cancer [PDF]

The Turkish Journal of Gastroenterology
Background/Aims: The prevalence of rectal cancer is increasing every year due to changes in living and eating habits. Early diagnosis contributes to the treatment and survival of patients.
Zhiqian Li, Mei Pu, Peng Zhou, Tao Zhang, Yang Xu, Yusui Zhang   +5 more
doaj   +2 more sources

Comparative analysis of haplotypes carrying pathogenic variants c.1545T>G, c.2027T>A and c.919-2A>G of the SLC26A4 gene in patients with hearing loss from the Tyva Republic (Southern Siberia) [PDF]

Вавиловский журнал генетики и селекции
Pathogenic variants in the SLC26A4 gene (OMIM #605646), leading to non-syndromic recessive hearing loss type 4 (DFNB4) and Pendred syndrome, significantly contribute to the etiology of hearing loss in many populations of the world.
V. Yu. Danilchenko, M. V. Zytsar, E. A. Panina, K. E. Orishchenko, O. L. Posukh   +4 more
doaj   +2 more sources

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

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   +2 more sources

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

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   +2 more sources

SLC26A Gene Family Participate in pH Regulation during Enamel Maturation. [PDF]

, 2015
The bicarbonate transport activities of Slc26a1, Slc26a6 and Slc26a7 are essential to physiological processes in multiple organs. Although mutations of Slc26a1, Slc26a6 and Slc26a7 have not been linked to any human diseases, disruption of Slc26a1 ...
Kurtz, Ira, Lacruz, Rodrigo S, Lei, Yuejuan, Paine, Michael L, Snead, Malcolm L, Soleimani, Manoocher, Wen, Xin, White, Shane N, Yin, Kaifeng   +8 more
core   +13 more sources

Inhibiting SLC26A4 reverses cardiac hypertrophy in H9C2 cells and in rats [PDF]

PeerJ, 2020
Background It has been confirmed that mutations in solute carrier family 26 member 4 (SLC26A4) contribute to pendred syndrome. However, the role of SLC26A4 in cardiac hypertrophy and the signaling pathways remain unclear.
Liqun Tang, Xiaoqin Yu, Yangyang Zheng, Ning Zhou   +3 more
doaj   +2 more sources

Failure of fluid absorption in the endolymphatic sac initiates cochlear enlargement that leads to deafness in mice lacking pendrin expression. [PDF]

PLoS ONE, 2010
Mutations of SLC26A4 are among the most prevalent causes of hereditary deafness. Deafness in the corresponding mouse model, Slc26a4(-/-), results from an abnormally enlarged cochlear lumen.
Hyoung-Mi Kim, Philine Wangemann
doaj   +1 more source