Results 11 to 20 of about 8,863 (195)

SLC26A4-AS1 Agrava a Hipertrofia Cardíaca Induzida por AngII Aumentando a Expressão de SLC26A4

Arquivos Brasileiros de Cardiologia, 2023
Resumo Fundamento Foi relatado que o RNA 1 antisenso 1 (SLC26A4-AS1) do membro 4 da família de transportadores de soluto 26 está altamente relacionado à hipertrofia cardíaca. Objetivo Esta pesquisa visa investigar o papel e o mecanismo específicos de
Xiaoliang Han, Chao Li, Qinjiong Ji, Ling Zhang, Xiaofei Xie, Huijuan Shang, Hong Ye   +6 more
doaj   +4 more sources

SLC26A4 targeted to the endolymphatic sac rescues hearing and balance in Slc26a4 mutant mice.

PLoS Genetics, 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 ...
Xiangming Li, Joel D Sanneman, Donald G Harbidge, Fei Zhou, Fei Zhou, Taku Ito, Raoul Nelson, Nicolas Picard, Régine Chambrey, Dominique Eladari, Tracy Miesner, Andrew J Griffith, Daniel C Marcus, Philine Wangemann   +13 more
doaj   +3 more sources

Slc26a4-insufficiency causes fluctuating hearing loss and stria vascularis dysfunction [PDF]

Neurobiology of Disease, 2014
SLC26A4 mutations can cause a distinctive hearing loss phenotype with sudden drops and fluctuation in patients. Existing Slc26a4 mutant mouse lines have a profound loss of hearing and vestibular function, with severe inner ear malformations that do not ...
Taku Ito, Xiangming Li, Kiyoto Kurima, Byung Yoon Choi, Philine Wangemann, Andrew J. Griffith   +5 more
doaj   +3 more sources

Computational analysis of functional single nucleotide polymorphisms associated with SLC26A4 gene.

PLoS ONE, 2020
Single Nucleotide Polymorphisms (SNPs) are the most common candidate mutations in human beings that play a vital role in the genetic basis of certain diseases.
Mirza Jawad Ul Hasnain, Muhammad Shoaib, Salman Qadri, Bakhtawar Afzal, Tehreem Anwar, Syed Hassan Abbas, Amina Sarwar, Hafiz Muhammad Talha Malik, Muhammad Tariq Pervez   +8 more
doaj   +4 more sources

Digenic inheritance of mutations in EPHA2 and SLC26A4 in Pendred syndrome [PDF]

Nature Communications, 2020
While biallelic mutations of the SLC26A4 gene cause non-syndromic hearing loss with enlarged vestibular aqueducts or Pendred syndrome, a considerable number of patients carry mono-allelic mutations.
Mengnan Li, Shin-ya Nishio, Chie Naruse, Meghan Riddell, Sabrina Sapski, Tatsuya Katsuno, Takao Hikita, Fatemeh Mizapourshafiyi, Fiona M. Smith, Leanne T. Cooper, Min Goo Lee, Masahide Asano, Thomas Boettger, Marcus Krueger, Astrid Wietelmann, Johannes Graumann, Bryan W. Day, Andrew W. Boyd, Stefan Offermanns, Shin-ichiro Kitajiri, Shin-ichi Usami, Masanori Nakayama   +21 more
doaj   +6 more sources

Developmental Expression of Membrane Pumps and Ion Channels in Human Vestibular Endolymph Homeostasis. [PDF]

Dev Neurobiol
ABSTRACT The expression patterns of key membrane pumps and ion channels involved in endolymph cycling have been studied in the rodent inner ear and the developing and adult human cochlea. However, little is known about their expression during the development of the human vestibular system.
van Beelen ESA, van der Valk WH, de Groot JCMJ, van Benthem PPG, Locher H.   +4 more
europepmc   +2 more sources

Bilateral Enlarged Vestibular Aqueduct: Auditory, Genetic and Radiological Characterization, and Benefits of Cochlear Implants. [PDF]

Otolaryngol Head Neck Surg
Abstract Objective The study aimed to describe the auditory phenotype of patients with bilateral enlarged vestibular aqueduct, including benefits of cochlear implantation, and to look for genotype‐phenotype correlation. Study Design Retrospective single‐center study. Setting Tertiary adult reference center.
Vigouroux A, Glemain B, Torres R, Jonard L, Loundon N, Ferrary E, Mosnier I, Daoudi H, Marlin S, Lahlou G.   +9 more
europepmc   +2 more sources

Molecular Features of SLC26A4 Common Variant p.L117F

Journal of Clinical Medicine, 2022
The SLC26A4 gene, which encodes the anion exchanger pendrin, is involved in determining syndromic (Pendred syndrome) and non-syndromic (DFNB4) autosomal recessive hearing loss. SLC26A4 c.349C>T, p.L117F is a relatively common allele in the Ashkenazi Jewish community, where its minor allele frequency is increased compared to other populations ...
Arnoldas Matulevičius, Emanuele Bernardinelli, Zippora Brownstein, Sebastian Roesch, Karen B. Avraham, Silvia Dossena   +5 more
openaire   +2 more sources

Differences in the pathogenicity of the p.H723R mutation of the common deafness-associated SLC26A4 gene in humans and mice. [PDF]

PLoS ONE, 2014
Mutations in the SLC26A4 gene are a common cause of human hereditary hearing impairment worldwide. Previous studies have demonstrated that different SLC26A4 mutations have different pathogenetic mechanisms.
Ying-Chang Lu, Chen-Chi Wu, Ting-Hua Yang, Yin-Hung Lin, I-Shing Yu, Shu-Wha Lin, Qing Chang, Xi Lin, Jau-Min Wong, Chuan-Jen Hsu   +9 more
doaj   +1 more source

Establishment of a knock-in mouse model with the SLC26A4 c.919-2A>G mutation and characterization of its pathology. [PDF]

PLoS ONE, 2011
Recessive mutations in the SLC26A4 gene are a common cause of hereditary hearing impairment worldwide. Previous studies have demonstrated that different SLC26A4 mutations may have different pathogenetic mechanisms.
Ying-Chang Lu, Chen-Chi Wu, Wen-Sheng Shen, Ting-Hua Yang, Te-Huei Yeh, Pei-Jer Chen, I-Shing Yu, Shu-Wha Lin, Jau-Min Wong, Qing Chang, Xi Lin, Chuan-Jen Hsu   +11 more
doaj   +1 more source