Results 71 to 80 of about 7,994 (153)

Role of Hearing Loss Genes in the Sensory Epithelia Associated With Meniere Disease

Sensory Neuroscience, Volume 2, Issue 1, March 2026.
ABSTRACT Meniere disease (MD) is an inner ear disorder characterized by episodic vertigo, tinnitus, fluctuating sensorineural hearing loss (SNHL), and aural fullness. Its hallmark pathological feature is endolymphatic hydrops. MD shows significant familial clustering in European and East Asian populations, supporting a strong genetic component in ...
Jose A. Lopez‐Escamez, Qiuyue Mao, Patricia Perez‐Carpena   +2 more
wiley   +1 more source

Mutation analysis of SLC26A4 (Pendrin) gene in a Brazilian sample of hearing-impaired subjects

BMC Medical Genetics, 2018
Background Mutations in the SLC26A4 gene are associated with Pendred syndrome and autosomal recessive non-syndromic deafness (DFNB4). Both disorders have similar audiologic characteristics: bilateral hearing loss, often severe or profound, which may be ...
Renata Watanabe Nonose, Karina Lezirovitz, Maria Teresa Balester de Mello Auricchio, Ana Carla Batissoco, Guilherme Lopes Yamamoto, Regina Célia Mingroni-Netto   +5 more
doaj   +1 more source

Branchial localization of acid (A‐type) and base (B‐type) excreting ionocytes in Amazonian stenohaline freshwater Potamotrygon ray

Journal of Fish Biology, Volume 108, Issue 3, Page 922-931, March 2026.
Abstract The branchial epithelium of Potamotrygon—a member of the only strictly freshwater elasmobranch family Potamotrygonidae—was observed via immunohistochemistry, and two distinct forms of ionocytes were identified. The acid (A‐type) and base (B‐type) secreting cells with respective basolateral–apical localizations of Na+/K+‐ATPase–Na+/H+ exchanger
M. W. Rossi, C. M. Wood, A. L. Val, J. M. Wilson   +3 more
wiley   +1 more source

Early deterioration of residual hearing in patients with SLC26A4 mutations

, 2017
OBJECTIVES/HYPOTHESIS: To compare changes in hearing in patients with SLC26A4 during early and late childhood. STUDY DESIGN: Retrospective chart review.
노경진, 최재영
core   +1 more source

Digenic inheritance of mutations in EPHA2 and SLC26A4 in Pendred syndrome

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   +1 more source

Measurements of endolymphatic K⁺ concentrations in the utricle of pre- and postnatal Slc26a4 Δ/+ and Slc26a4 Δ/Δ mice [PDF]

Master of ScienceDepartment of Anatomy and PhysiologyAntje P. WangemannSLC26A4 and its murine ortholog Slc26a4 code for pendrin, an anion-exchanger that is expressed in the inner ear.
Zhou, Fei
core  

Population Data on D7S2425 Marker in Five Ethnic Groups of the Iranian Population: A Highly Informative Marker for Molecular Diagnosis of ARNSHL [PDF]

Journal of Kerman University of Medical Sciences, 2014
Background & Aims: SLC26A4 gene mutations are the second identifiable genetic cause of autosomal recessive nonsyndromic hearing loss (ARNSHL) after GJB2 mutations and are currently investigated in molecular diagnosis.In databases, several potential STR ...
Marjan Mojtabavi Naeini, Sadeq Vallian Boroujeni, Morteza Hashemzadeh Chaleshtori   +2 more
doaj  

Generation of a human iPS cell line (CGMH.SLC26A4919-2) from a Pendred syndrome patient carrying SLC26A4 c.919-2A>G splice-site mutation

Stem Cell Research, 2019
SLC26A4 is the second most frequent gene implicated in congenital hearing loss after GJB2 mutations. Here, we report the generation of induced pluripotent stem cells (iPSCs), from a patient who was carrying a homozygous c.919-2A>G variant in the SLC26A4 ...
Yen-Fu Cheng, Yen-Hui Chan, Chin-Ju Hu, Ying-Chang Lu, Tsubasa Saeki, Makoto Hosoya, Chika Saegusa, Masato Fujioka, Hideyuki Okano, Shih-Ming Weng, Chuan-Jen Hsu, Kuo-Hsuan Chang, Chen-Chi Wu   +12 more
doaj   +1 more source

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)

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   +1 more source

OTOF Gene Therapy: From Breakthroughs to Roadmaps

MedComm, Volume 7, Issue 3, March 2026.
Qiuju Wang, Tobias Moser, Christine Petit   +2 more
wiley   +1 more source