Results 41 to 50 of about 514 (125)

Genetic linkage Analysis of DFNB1)GJB6 (and DFNB4 (SLC26A4) loci with Autosomal Recessive Non-Syndromic Hearing Loss (ARNSHL) in Kermanshah, a western province of Iran

, 2017
Background: Hearing Loss (HL) is the most common sensory disorder in human with an incidence of about one in 650 alive neonates. It is estimated that at least 50% of pre-lingual HL has a genetic basis.
Shahmohammadi, Azin, Montazer Haghighi, Mahdi, Alibakhshi, Reza, Tabatabiefar, Mohammad Amin   +3 more
core   +1 more source

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

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   +1 more source

Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4.

, 1996
Inherited causes account for about 50% of individuals presenting with childhood (prelingual) hearing loss, of which 70% are due to mutation in numerous single genes which impair auditory function alone (non-syndromic).
Coffey, R, Beth Coyle, Britton, K, Marcus Pembrey, Ze'ev Hochberg, Armour, JA, Hochberg, Z, Richard Trembath, Grossman, Ashley, William Reardon, John A.L. Armour, Coyle, B, Gausden, E, Reardon, W, Pembrey, M, Keith Britton, Rebecca Coffey, Eleanor Gausden, Grossman, A, Ashley Grossman, Trembath, R   +20 more
core   +1 more source

Novel mutations in the SLC26A4 gene

, 2012
Objectives Mutations in the SLC26A4 gene (7q22.3–7q31.1) are considered one of the most common causes of genetic hearing loss. There are two clinical forms related to these mutations: syndromic and non-syndromic deafness.
Busi M, Guaran V, Ravani A, Ferlini A, Martini A., Taddei Masieri M, Trevisi P, Castiglione A, Astolfi L   +8 more
core   +3 more sources

Mutation analysis of GJB2 and GJB6 genes and the genetic linkage analysis of five common DFNB loci in the Iranian families with autosomal recessive non-syndrom [PDF]

, 2010
The incidence of pre-lingual hearing loss (HL) is about 1 in 1000 neonates. More than 60% of cases are inherited. Non-syndromic HL (NSHL) is extremely heterogeneous: more than 130 loci have been identified so far.
Farokhi, Effat., Safari Chaleshtori, Javad., Tabatabaiefar, Mohammad Amin., Montazer Zohouri, Mostafa., Gholami, A., Shariati, Laleh., Ashrafi, Koorosh., Noori-Daloii, Mohammad Reza., Hashemzadeh-Chaleshtori, Morteza.   +8 more
core   +1 more source

Haplotype Analysis for DFNB4/PDS Locus in Hearing Impaired Families of Punjab (Pakistan) [PDF]

, 2012
: Deafness is one of the most common genetic disorders affecting 1 in 1000 newborns worldwide, while in Pakistan, its prevalence is 1.6/1000.The present study was conducted to map reported autosomal recessive deafness locus DFNB4/PDS in highly ...
Khan Khattak, Zubair Anwar, Asif Mir, Talal Jamil, Jabar Zaman, Muhammad Waqar, Syed Babar Jamal, Rizwan Ullah Khan, Arshia Iram   +8 more
core  

Developmental Expression of Membrane Pumps and Ion Channels in Human Vestibular Endolymph Homeostasis

Developmental Neurobiology, Volume 86, Issue 1, January 2026.
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.
Edward S. A. van Beelen, Wouter H. van der Valk, John C. M. J. de Groot, Peter Paul G. van Benthem, Heiko Locher   +4 more
wiley   +1 more source

Vestibular function is associated with residual low-frequency hearing loss in patients with bi-allelic mutations in the SLC26A4 gene

, 2017
DFNB4 is non-syndromic, autosomal recessive type of hearing loss with an enlarged vestibular aqueduct (EVA) caused by mutations in SLC26A4/pendrin.
서영욱, 정진세, 최재영, 김성헌   +3 more
core   +1 more source

Treating Hearing Loss: From Cochlear Implantation to Gene Therapy

Advanced Science, Volume 12, Issue 41, November 6, 2025.
Cochlear implantation is the primary treatment for deafness, restoring functional hearing in over a million people. Recently, gene therapy has enabled biological hearing restoration in a small number of patients with OTOF‐related mutations. This perspective evaluates both approaches, concluding that cochlear implants will remain the standard for most ...
Fan‐Gang Zeng, Jieyu Qi, Chen‐Chi Wu, Yilai Shu, Renjie Chai   +4 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