Results 41 to 50 of about 7,994 (153)

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

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

A novel SLC26A4 splicing mutation identified in two deaf Chinese twin sisters with enlarged vestibular aqueducts

Molecular Genetics & Genomic Medicine, 2020
Background Variants in the SLC26A4 gene are correlated with nonsyndromic hearing loss with an enlarged vestibular aqueduct (EVA). This study aimed to identify the genetic causes in a Chinese family with EVA, and the pathogenicity of the detected variants.
Kai Zhou, Lancheng Huang, Menglong Feng, Xinlei Li, Yi Zhao, Fei Liu, Jiazhang Wei, Danxue Qin, Qiutian Lu, Min Shi, Shenhong Qu, Fengzhu Tang   +11 more
doaj   +1 more source

Impaired Renal Base Excretion in Secretin Receptor Knock‐Out Mice During Prolonged Base‐Loading

Acta Physiologica, Volume 242, Issue 9, September 2026.
ABSTRACT Aim Secretin was recently found to play a pivotal role in the renal adaptation to acute base excess. Here, secretin increases pendrin‐dependent HCO3− secretion from the beta‐intercalated cells in the cortical collecting ducts. Whether secretin and its receptor play a role during prolonged base‐loading remains unknown.
Tobias Jensen, Jesper Frank Andersen, Laura Woidemann Trans, Ida Marie Modvig, Helga Vitzthum, Jens Juul Holst, Bolette Hartman, Samuel L. Svendsen, Mads Vaarby Sørensen, Jens Leipziger, Peder Berg   +10 more
wiley   +1 more source

Spektrum genetischer Schwerhörigkeit im SLC26A4 Gen

, 2015
Einleitung: Mutationen im SLC26A4-Gen gehören zu den häufigsten Ursachen für genetische Schwerhörigkeit. Das breite phänotypische Spektrum reicht vom typischen Pendred-Syndrom bis zu nicht-syndromaler Schwerhörigkeit mit erweitertem, vestibulären ...
Braun, K, Müller, M, Biskup, S, Tropitzsch, A, Friese, N, Arnold, H, Löwenheim, H   +6 more
core   +1 more source

Molecular Features of SLC26A4 Common Variant p.L117F

, 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.
Brownstein, Zippora, Emanuele Bernardinelli, Karen B. Avraham, Matulevičius, Arnoldas, Dossena, Silvia, Silvia Dossena, Roesch, Sebastian, Bernardinelli, Emanuele, Avraham, Karen B., Zippora Brownstein, Sebastian Roesch, Arnoldas Matulevičius   +11 more
core   +1 more source

Compound heterozygous variants of the SLC26A4 gene in a Chinese family with enlarged vestibular aqueducts

BMC Medical Genomics, 2022
Background To investigate the genetic causes of hearing loss in patients with enlarged vestibular aqueduct (EVA), the SLC26A4-related genotypes and phenotypes were analyzed.
Xiaohui He, Shaozhi Zhao, Lin Shi, Yitong Lu, Yintong Yang, Xinwen Zhang   +5 more
doaj   +1 more source

Human Nasal and Bronchial Epithelium in Cystic Fibrosis: Differences in Expression of Airway pH Regulatory Proteins

Pediatric Pulmonology, Volume 61, Issue 8, August 2026.
ABSTRACT Background Decreased apical bicarbonate transport into the airway surface liquid (ASL) has been associated with decreased ASL pH, which can have adverse respiratory effects. However, the human CF epithelium can normalize ASL pH. Thus, we hypothesized that pH regulatory proteins other than the CFTR could be altered in the CF epithelium ...
Michael D. Davis, Laura Smith, Yi Zhao, Rania Abdul Rahman, Faiza Khalid, James Chmiel, Katie Boyne, Ivana A. Daniels, Benjamin Gaston, Nadzeya Marozkina   +9 more
wiley   +1 more source

Increased diagnosis of enlarged vestibular aqueduct by multiplex PCR enrichment and next‐generation sequencing of the SLC26A4 gene

Molecular Genetics & Genomic Medicine, 2021
Background The enlarged vestibular aqueduct (EVA) is the commonest malformation of inner ear accompanied by sensorineural hearing loss in children. Three genes SLC26A4, FOXI1, and KCNJ10 have been associated with EVA, among them SLC26A4 being the most ...
Yongan Tian, Hongen Xu, Danhua Liu, Juanli Zhang, Zengguang Yang, Sen Zhang, Huanfei Liu, Ruijun Li, Yingtao Tian, Beiping Zeng, Tong Li, Qianyu Lin, Haili Wang, Xiaohua Li, Wei Lu, Ying Shi, Yan Zhang, Hui Zhang, Chang Jiang, Ying Xu, Bei Chen, Jun Liu, Wenxue Tang   +22 more
doaj   +1 more source

Genetic Landscape of Hearing Loss in Brazilian Patients Reveals Population‐Specific Variants and Clinical Correlations

Clinical Genetics, Volume 110, Issue 2, Page 210-226, August 2026.
The Burden: Hearing loss (HL) is the most prevalent sensory disorder globally, affecting 1.5 million individuals in Brazil. The Gap: While > 150 genes are linked to HL, the genetic architecture in underrepresented populations like Brazil is poorly defined. The Problem: This lack of data limits diagnostic yield and the application of precision medicine.
Stella Diogo‐Cavassana, Danillo Alencar‐Coutinho, Rafaella Abreu‐Oberhuber, Maria Eduarda Paramo‐Neto, Jeanne Oiticica, Ricardo Ferreira Bento, Ana Carla Batissoco, Karina Lezirovitz   +7 more
wiley   +1 more source