Results 21 to 30 of about 683 (138)

Unraveling the Genetic Landscape of Hearing Loss: A Comprehensive Study of Azeri Families in Ardabil, Iran. [PDF]

Mol Genet Genomic Med
Our study highlights that SLC26A4 is the second most prevalent cause of hearing loss, following GJB2. This finding underscores the significance of understanding the genetic underpinnings of hearing loss for early diagnosis and the implementation of appropriate screening programs for different ethnic groups in Iran.
Mohseni M, Ashrafi FZ, Abbaspour Rodbaneh E, Mokabber H, Vafaei M, Nobakht R, Keshavarzi F, Arzhangi S, Arish S, Azar ZN, Kahrizi K, Najmabadi H, Davarnia B.   +12 more
europepmc   +2 more sources

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

SLC26A4 mutation spectrum associated with DFNB4 deafness and Pendred's syndrome in Pakistanis [PDF]

Journal of Human Genetics, 2009
Pendred's syndrome (PDS) is an autosomal-recessive disorder characterized by sensorineural hearing loss and goiter. PDS is caused by mutations of the SLC26A4 gene encoding pendrin, a transmembrane exchanger of Cl(-), I(-) and HCO(3)(-), which is expressed in the thyroid and inner ear. SLC26A4 mutations can also be associated with non-syndromic deafness,
Saima, Anwar, Saima, Riazuddin, Zubair M, Ahmed, Saba, Tasneem, , Ateeq-ul-Jaleel, Shahid Y, Khan, Andrew J, Griffith, Thomas B, Friedman, Sheikh, Riazuddin   +8 more
openaire   +2 more sources

Treating Hearing Loss: From Cochlear Implantation to Gene Therapy. [PDF]

Adv Sci (Weinh)
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 ...
Zeng FG, Qi J, Wu CC, Shu Y, Chai R.
europepmc   +2 more sources

Transcriptional Control of SLC26A4 Is Involved in Pendred Syndrome and Nonsyndromic Enlargement of Vestibular Aqueduct (DFNB4) [PDF]

The American Journal of Human Genetics, 2007
Although recessive mutations in the anion transporter gene SLC26A4 are known to be responsible for Pendred syndrome (PS) and nonsyndromic hearing loss associated with enlarged vestibular aqueduct (EVA), also known as "DFNB4," a large percentage of patients with this phenotype lack mutations in the SLC26A4 coding region in one or both alleles.
Yang, Tao, Vidarsson, Hilmar, Rodrigo-Blomqvist, Sandra, Rosengren, Sally S., Enerbäck, Sven, Smith, Richard J.H.   +5 more
openaire   +2 more sources

TMED3 Complex Mediates ER Stress‐Associated Secretion of CFTR, Pendrin, and SARS‐CoV‐2 Spike

Advanced Science, Volume 9, Issue 24, August 25, 2022., 2022
This study highlights the critical role of the TMED3 complex in the Golgi‐independent unconventional protein secretion (UPS) of transmembrane proteins, such as ΔF508‐CFTR, p.H723R‐pendrin and SARS‐CoV‐2 Spike. Under ER stress conditions, TMED3 initially recognizes the ER‐accumulated membrane proteins and the TMED2/3/9/10 heteromeric complex facilitates
Hak Park, Soo Kyung Seo, Ju‐Ri Sim, Su Jin Hwang, Ye Jin Kim, Dong Hoon Shin, Dong Geon Jang, Shin Hye Noh, Pil‐Gu Park, Si Hwan Ko, Mi Hwa Shin, Jae Young Choi, Yukishige Ito, Chung‐Min Kang, Jae Myun Lee, Min Goo Lee   +15 more
wiley   +1 more source

Role of SLC4 and SLC26 solute carriers during oxidative stress

Acta Physiologica, Volume 235, Issue 1, May 2022., 2022
Abstract Bicarbonate is one of the major anions in mammalian tissues and fluids, is utilized by various exchangers to transport other ions and organic substrates across cell membranes and plays a critical role in cell and systemic pH homoeostasis. Chloride/bicarbonate (Cl−/HCO3−) exchangers are abundantly expressed in erythrocytes and epithelial cells ...
Alessia Remigante, Sara Spinelli, Michael Pusch, Antonio Sarikas, Rossana Morabito, Angela Marino, Silvia Dossena   +6 more
wiley   +1 more source

A Novel Frameshift Mutation of in a Korean Family With Nonsyndromic Hearing Loss and Enlarged Vestibular Aqueduct [PDF]

Clinical and Experimental Otorhinolaryngology, 2017
Objectives We aimed to identify the causative mutation for siblings in a Korean family with nonsyndromic hearing loss (HL) and enlarged vestibular aqueduct (EVA).
Borum Sagong, Jeong-In Baek, Kyu-Yup Lee, Un-Kyung Kim   +3 more
doaj   +1 more source

Milestones toward cochlear gene therapy for patients with hereditary hearing loss

Laryngoscope Investigative Otolaryngology, Volume 6, Issue 5, Page 958-967, October 2021., 2021
Abstract A number of genes are reportedly responsible for hereditary hearing loss, which accounts for over 50% of all congenital hearing loss cases. Recent advances in genetic testing have enabled the identification of pathogenic variants in many cases, and systems have been developed to provide personalized treatment based on etiology. Gene therapy is
Hidekane Yoshimura, Shin‐Ya Nishio, Shin‐Ichi Usami   +2 more
wiley   +1 more source

Genetic etiology study of four Chinese families with two nonsyndromic deaf children in succession by targeted next‐generation sequencing

Molecular Genetics &Genomic Medicine, Volume 9, Issue 4, April 2021., 2021
We successfully identified pathogenic and likely pathogenic variants in 3 Chinese families with two nonsyndromic deaf children in succession by targeted NGS. Families who have had a deaf child or families with a family history of deafness should do genetic counseling before giving birth again.
Caixia Xiao, Shuang Liu, Hongyue Wang, Yibing Ding, Yaqiu Chen, Haiyan Liu   +5 more
wiley   +1 more source