Results 1 to 10 of about 664 (124)

DNAJC14 Ameliorates Inner Ear Degeneration in the DFNB4 Mouse Model [PDF]

Molecular Therapy: Methods & Clinical Development, 2020
The His723Arg (H723R) mutation in SLC26A4, encoding pendrin, is the most prevalent mutation in East Asia, resulting in DFNB4, an autosomal recessive type of genetic hearing loss.
Hye Ji Choi, Hyun Jae Lee, Jin Young Choi, Ik Hyun Jeon, Byunghwa Noh, Sushil Devkota, Han-Woong Lee, Seong Kug Eo, Jae Young Choi, Min Goo Lee, Jinsei Jung   +10 more
doaj   +9 more sources

Screening of 10 DFNB Loci Causing Autosomal Recessive Non-Syndromic Hearing Loss in Two Iranian Populations Negative for GJB2 Mutations [PDF]

Iranian Journal of Public Health, 2019
Background: Autosomal recessive non-syndromic hearing loss (ARNSHL), one of the global public health concerns, is marked by a high degree of genetic heterogeneity. The role of GJB2, as the most common cause of ARNSHL, is only
Mahbobeh KOOHIYAN, Somayeh REIISI, Fatemeh AZADEGAN-DEHKORDI, Mansoor SALEHI, Hamidreza ABTAHI, Morteza HASHEMZADEH-CHALESHTORI, Mohammad Reza NOORI-DALOII, Mohammad Amin TABATABAIEFAR   +7 more
doaj   +5 more sources

Compound Heterozygosity for Two Novel Mutations in a Large Iranian Pedigree with Pendred Syndrome [PDF]

Clinical and Experimental Otorhinolaryngology, 2013
ObjectivesThe aim of this study was to detect the genetic cause of deafness in a large Iranian family. Due to the importance of SLC26A4 in causing hearing loss, information about the gene mutations can be beneficial in molecular detection and management ...
Nasrin Yazdanpanahi, Mohammad Amin Tabatabaiefar, Effat Farrokhi, Narges Abdian, Nader Bagheri, Shirin Shahbazi, Zahra Noormohammadi, Morteza Hashemzadeh Chaleshtori   +7 more
doaj   +4 more sources

Genetic Determinants of Non-Syndromic Enlarged Vestibular Aqueduct: A Review [PDF]

Audiology Research, 2021
Hearing loss is the most common sensorial deficit in humans and one of the most common birth defects. In developed countries, at least 60% of cases of hearing loss are of genetic origin and may arise from pathogenic sequence alterations in one of more ...
Sebastian Roesch, Gerd Rasp, Antonio Sarikas, Silvia Dossena   +3 more
doaj   +2 more sources

Genetic Linkage Analysis of 15 DFNB Loci in a Group of Iranian Families with Autosomal Recessive Hearing Loss [PDF]

Iranian Journal of Public Health, 2011
Background: Hearing loss (HL) is the most frequent sensory birth defect in humans. Autosomal recessive non-syn­dromic HL (ARNSHL) is the most common type of hereditary HL.
MA Tabatabaiefar , F Alasti, M Montazer Zohour, L Shariati, E Farrokhi , DD Farhud , GV Camp, MR Noori-Daloii, M Hashemzadeh Chaleshtori   +8 more
doaj   +7 more sources

Different Rates of the SLC26A4-Related Hearing Loss in Two Indigenous Peoples of Southern Siberia (Russia) [PDF]

Diagnostics, 2021
Hereditary hearing loss (HL) is known to be highly locus/allelic heterogeneous, and the prevalence of different HL forms significantly varies among populations worldwide. Investigation of region-specific landscapes of hereditary HL is important for local
Valeriia Yu. Danilchenko, Marina V. Zytsar, Ekaterina A. Maslova, Marita S. Bady-Khoo, Nikolay A. Barashkov, Igor V. Morozov, Alexander A. Bondar, Olga L. Posukh   +7 more
doaj   +2 more sources

A phase I/IIa double blind single institute trial of low dose sirolimus for Pendred syndrome/DFNB4. [PDF]

Medicine (Baltimore), 2020
Abstract Introduction: Pendred syndrome (PDS)/DFNB 4 is a disorder with fluctuating and progressive hearing loss, vertigo, and thyroid goiter. We identified pathophysiology of a neurodegenerative disorder in PDS patient derived cochlear cells that were induced via induced pluripotent stem cells and found sirolimus, an
Fujioka M, Akiyama T, Hosoya M, Kikuchi K, Fujiki Y, Saito Y, Yoshihama K, Ozawa H, Tsukada K, Nishio SY, Usami SI, Matsunaga T, Hasegawa T, Sato Y, Ogawa K.   +14 more
europepmc   +3 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

Molecular diagnosis of SLC26A4-related hereditary hearing loss in a group of patients from two provinces of Iran. [PDF]

Intractable Rare Dis Res, 2021
Recessive mutations in the <i>SLC26A4</i> gene are responsible for nonsyndromic enlarged vestibular aqueduct (EVA) and Pendred syndrome. However, in some affected families, only 1 or 0 mutated allele can be identified, as well as no clear correlation between <i>SLC26A4</i> genotypes and clinical phenotypes, hampering the ...
Koohiyan M, Hashemzadeh-Chaleshtori M, Tabatabaiefar MA.   +2 more
europepmc   +2 more sources

A Family of H723R Mutation for Associated with Enlarged Vestibular Aqueduct Syndrome [PDF]

Clinical and Experimental Otorhinolaryngology, 2009
Recessive mutations of the SLC26A4 (PDS) gene on chromosome 7q31 can cause sensorineural deafness with goiter (Pendred syndrome, OMIM 274600) or NSRD with goiter (at the DFNB4 locus, OMIM 600791).
SungHee Kim, Dae Gun Song, Jae Woong Bae, Soo-Young Choi, Un-Kyung Kim, Young Jun Choi, Kyu Yup Lee, Sang Heun Lee, Jung Rae Lee   +8 more
doaj   +4 more sources