Results 91 to 100 of about 8,863 (195)

A novel variant of SLC26A4 and first report of the c.716T>A variant in Iranian pedigrees with non-syndromic sensorineural hearing loss [PDF]

, 2018
The autosomal recessive non-syndromic hearing loss (ARNSHL) can be associated with variants in solute carrier family 26, member 4 (SLC26A4) gene and is the second most common cause of ARNSHL worldwide.
Ahmadi, R, Azadegan-Dehkordi, F, Bahrami, T, Farrokhi, E, Hashemzadeh-Chaleshtori, mahmoud, Tabatabaiefar, MA, Yazdanpanahi, N   +6 more
core  

Developmental Hypoxia Enhances Kidney Organoid Complexity and Maturity

Advanced Science, Volume 12, Issue 40, October 27, 2025.
The current bottleneck in metanephric mesenchyme (MM)‐derived nephron organoid development is the absence of a connected network of collecting ducts (CD) derived from the ureteric bud (UB). To address this limitation, this study proposes a hypoxia‐based differentiation method that mimics the natural renal developmental environment, enabling the ...
Hyeonji Lim, Dohui Kim, Haejin Yoon, Joo H. Kang, Yong Jun Kim, Dong Sung Kim, Tae‐Eun Park   +6 more
wiley   +1 more source

SLC26A4 gene copy number variations in Chinese patients with non-syndromic enlarged vestibular aqueduct

Journal of Translational Medicine, 2012
Background Many patients with enlarged vestibular aqueduct (EVA) have either only one allelic mutant of the SLC26A4 gene or lack any detectable mutation.
Zhao Jiandong, Yuan Yongyi, Chen Jing, Huang Shasha, Wang Guojian, Han Dongyi, Dai Pu   +6 more
doaj   +1 more source

Different Contribution of Missense and Loss‐of‐Function Variants to the Genetic Structure of Familial and Sporadic Meniere Disease

MedComm, Volume 6, Issue 10, October 2025.
This study examines the genetic basis of sporadic (SMD) and familial Meniere disease (FMD) by comparing rare protein‐coding variants using exome sequencing and gene burden analysis. FMD patients had a higher accumulation of missense and LoF variants, especially in genes linked to auditory and vestibular function.
Alberto M. Parra‐Perez, Alvaro Gallego‐Martinez, Alba Escalera‐Balsera, Paula Robles‐Bolivar, Patricia Perez‐Carpena, Jose A. Lopez‐Escamez   +5 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

Mutation analysis of the SLC26A4, FOXI1 and KCNJ10 genes in individuals with congenital hearing loss [PDF]

PeerJ, 2014
Pendred syndrome (PDS) and DFNB4 comprise a phenotypic spectrum of sensorineural hearing loss disorders that typically result from biallelic mutations of the SLC26A4 gene. Although PDS and DFNB4 are recessively inherited, sequencing of the coding regions
Lynn M. Pique, Marie-Luise Brennan, Colin J. Davidson, Frederick Schaefer, John Greinwald Jr, Iris Schrijver   +5 more
doaj   +2 more sources

Resolving the genetic heterogeneity of prelingual hearing loss within one family: Performance comparison and application of two targeted next generation sequencing approaches. [PDF]

, 2014
published_or_final_versio
A Yin, AE Shearer, AE Shearer, AJ Coffey, AM Sulonen, C Petit, C Petit, CC Morton, DL Dinwiddie, Dongyi Han, Fei Ji, G Van Camp, HM Woo, Huijun Yuan, I Schrauwen, Jing Cheng, JM Schultz, KwongWai Choy, Liyang Liu, LM Astuto, M Sotomayor, MA DePristo, MA Musarella, Michael Zhang, MJ Clark, NE Morton, PJ Coucke, R Tewhey, RJ Smith, SE Calvo, TA Sivakumaran, V Plagnol, W Tang, Weidong Shen, X Lin, X Liu, Xuegong Zhang, Xueya Zhou, Y Yuan, Ye Cao, Yu Lu, Z Brownstein, Zhanguo Jin   +42 more
core   +1 more source

Exploring AAV‐Mediated Gene Therapy for Inner Ear Diseases: from Preclinical Success to Clinical Potential

Advanced Science, Volume 12, Issue 33, September 4, 2025.
Current preclinical studies of AAV‐mediated gene therapy explore different strategies based on the characteristics of inner ear diseases. For genetic hearing loss, approaches include the replacement of a “good gene,” removal of a “bad gene,” or direct correction of mutations through base editing.
Fan Wu, Wuhui He, Yun Xiao, Qiong Wu, Qing Zhang, Tiesong Zhang, Lei Xu, Xinyi Pang   +7 more
wiley   +1 more source

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  

Is CABP2‐Associated Hearing Loss (DFNB93) a Gene Therapy Target? Preclinical Progress and Patient Registry

MedComm, Volume 6, Issue 9, September 2025.
The intended aims and benefits of the CABP2 Patient Registry. ABSTRACT CABP2 modulates presynaptic CaV1.3 Ca2+ channel function in inner hair cells (IHCs) and is required for indefatigable synaptic sound encoding. Biallelic variants in CABP2 are associated with non‐syndromic hearing loss (DFNB93).
Barbara Vona, Bernd Wollnik, Nicola Strenzke, Tina Pangršič, Tobias Moser   +4 more
wiley   +1 more source