Results 21 to 30 of about 514 (125)

Molecular Features of SLC26A4 Common Variant p.L117F. [PDF]

J Clin Med, 2022
The SLC26A4 gene, which encodes the anion exchanger pendrin, is involved in determining syndromic (Pendred syndrome) and non-syndromic (DFNB4) autosomal recessive hearing loss.
Matulevičius A, Bernardinelli E, Brownstein Z, Roesch S, Avraham KB, Dossena S.   +5 more
europepmc   +2 more sources

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

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

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   +1 more source

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

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

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

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

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

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

Intractable Rare Dis Res, 2021
The SLC26A4 gene has been described as the second gene involved in most cases of autosomal recessive non-syndromic hearing loss (ARNSHL), after GJB2.
Koohiyan M, Hashemzadeh-Chaleshtori M, Tabatabaiefar MA.   +2 more
europepmc   +2 more sources