Results 31 to 40 of about 683 (138)

Congenital Deafness and Recent Advances Towards Restoring Hearing Loss

Current Protocols, Volume 1, Issue 3, March 2021., 2021
Abstract Congenital hearing loss is the most common birth defect, estimated to affect 2‐3 in every 1000 births. Currently there is no cure for hearing loss. Treatment options are limited to hearing aids for mild and moderate cases, and cochlear implants for severe and profound hearing loss. Here we provide a literature overview of the environmental and
Justine M. Renauld, Martin L. Basch
wiley   +1 more source

Pendred syndrome and DFNB4‐mutation screening of SLC26A4 by denaturing high‐performance liquid chromatography and the identification of eleven novel mutations [PDF]

American Journal of Medical Genetics Part A, 2003
AbstractMutations in SLC26A4 cause Pendred syndrome, an autosomal‐recessive disorder characterized by sensorineural deafness and goiter, and DFNB4, a type of autosomal recessive nonsyndromic deafness in which, by definition, affected persons do not have thyromegaly.
Prasad, S, Kolln, K A, Cucci, R A, Trembath, R C, Van Camp, G, Smith, R J H   +5 more
openaire   +4 more sources

Full etiologic spectrum of pediatric severe to profound hearing loss of consecutive 119 cases

Scientific Reports, 2022
Determining the etiology of severe-to-profound sensorineural hearing loss (SP-SNHL) in pediatric subjects is particularly important in aiding the decision for auditory rehabilitation.
Young Seok Kim, Yoonjoong Kim, Hyoung Won Jeon, Nayoung Yi, Sang-Yeon Lee, Yehree Kim, Jin Hee Han, Min Young Kim, Bo Hye Kim, Hyeong Yun Choi, Marge Carandang, Ja-Won Koo, Bong Jik Kim, Yun Jung Bae, Byung Yoon Choi   +14 more
doaj   +1 more source

Novel small molecule-mediated restoration of the surface expression and anion exchange activity of mutated pendrin causing Pendred syndrome and DFNB4

Biomedicine & Pharmacotherapy, 2023
Variants in SLC26A4 (pendrin) are the most common reasons for genetic hearing loss and vestibular dysfunction in East Asians. In patients with Pendred syndrome and DFNB4 (autosomal recessive type of genetic hearing loss 4), caused by variants in SLC26A4, the hearing function is residual at birth and deteriorates over several years, with no curative ...
Jinsei Jung, Shin Hye Noh, Sungwoo Jo, Doona Song, Min Jin Kang, Mi Hwa Shin, Hyun Jae Lee, Jae-Chul Pyun, Wan Namkung, Gyoonhee Han, Min Goo Lee, Jae Young Choi   +11 more
openaire   +2 more sources

Functional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4) [PDF]

Human Molecular Genetics, 2000
The PDS gene encodes a transmembrane protein, known as pendrin, which functions as a transporter of iodide and chloride. Mutations in this gene are responsible for Pendred syndrome and autosomal recessive non-syndromic hearing loss at the DFNB4 locus on chromosome 7q31.
D A, Scott, R, Wang, T M, Kreman, M, Andrews, J M, McDonald, J R, Bishop, R J, Smith, L P, Karniski, V C, Sheffield   +8 more
openaire   +2 more sources

The Diverse Genetic Landscape of Hearing Impairment in South African Families. [PDF]

Clin Genet
South African Families with Nonsyndromic (N = 24) and Syndromic Hearing Impairment (N = 21) with ≥ 2 affected members were analyzed. The underlying etiology was uncovered using exome and Sanger sequencing for 31 of these families. ABSTRACT To elucidate the genetic etiology of hearing impairment (HI) in South Africa, 45 nonsyndromic HI (NSHI) and ...
Bharadwaj T, Acharya A, Manyisa NR, Aboagye ET, Peigou Wonkam R, Xhakaza L, Popel K, de Kock C, Schrauwen I, Wonkam A, Leal SM.   +10 more
europepmc   +2 more sources

Genetic Factors That Might Lead to Different Responses in Individuals Exposed to Perchlorate [PDF]

, 2005
Perchlorate has been detected in groundwater in many parts of the United States, and recent detection in vegetable and dairy food products indicates that contamination by perchlorate is more widespread than previously thought.
Fowler, Bruce A., Murray, H. Edward, Scinicariello, Franco, Smith, Lester, Wilbur, Sharon   +4 more
core   +2 more sources

Novel roles for chloride channels, exchangers, and regulators in chronic inflammatory airway diseases [PDF]

, 2015
Chloride transport proteins play critical roles in inflammatory airway diseases, contributing to the detrimental aspects of mucus overproduction, mucus secretion, and airway constriction.
Berry, Kayla N, Brett, Tom J, Sala-Rabanal, Monica, Yurtsever, Zeynep   +3 more
core   +9 more sources

Two novel SLC26A4 mutations in Iranian families with autosomal recessive hearing loss [PDF]

, 2012
Objective: Due to the fact that SLC26A4 has been suggested as the second cause of hearing loss (HL) in Iran as well as many other countries, obtaining more comprehensive information about SLC26A4 mutations can facilitate more efficient genetic services ...
Farrokhi, Effat., Hashemzadeh-Chaleshtori, Morteza., Hosseinipour, Azam., Najmabadi, Hossein., Noormohammadi, Zahra., Shahbazi, Shirin., Tabatabaiefar, Mohammad Amin., Yazdanpanahi, Nasrin.   +7 more
core   +1 more source

A mutational analysis of the SLC26A4 gene in Spanish hearing-impaired families provides new insights into the genetic causes of Pendred syndrome and DFNB4 hearing loss. [PDF]

European Journal of Human Genetics, 2008
Pendred syndrome (PS) and DFNB4, a non-syndromic sensorineural hearing loss with enlargement of the vestibular aqueduct (EVA), are caused by mutations in the SLC26A4 gene. Both disorders are recessive, and yet only one mutated SLC26A4 allele, or no mutations, are identified in many cases.
Alejandra, Pera, Manuela, Villamar, Antonio, Viñuela, Marta, Gandía, Carme, Medà, Felipe, Moreno, Concepción, Hernández-Chico   +6 more
openaire   +2 more sources