Asymmetric pendrin homodimer reveals its molecular mechanism as anion exchanger
Q Liu, X Zhang, H Huang, Y Chen, F Wang… - Nature …, 2023 - nature.com
Abstract Pendrin (SLC26A4) is an anion exchanger expressed in the apical membranes of
selected epithelia. Pendrin ablation causes Pendred syndrome, a genetic disorder …
selected epithelia. Pendrin ablation causes Pendred syndrome, a genetic disorder …
Selection of Diagnostically Significant Regions of the SLC26A4 Gene Involved in Hearing Loss
VY Danilchenko, MV Zytsar, EA Maslova… - International Journal of …, 2022 - mdpi.com
Screening pathogenic variants in the SLC26A4 gene is an important part of molecular
genetic testing for hearing loss (HL) since they are one of the common causes of hereditary …
genetic testing for hearing loss (HL) since they are one of the common causes of hereditary …
Analysis of SLC26A4, FOXI1, and KCNJ10 Gene Variants in Patients with Incomplete Partition of the Cochlea and Enlarged Vestibular Aqueduct (EVA) Anomalies
LA Klarov, VG Pshennikova, GP Romanov… - International Journal of …, 2022 - mdpi.com
Pathogenic variants in the SLC26A4, FOXI1, and KCNJ10 genes are associated with
hearing loss (HL) and specific inner ear abnormalities (DFNB4). In the present study …
hearing loss (HL) and specific inner ear abnormalities (DFNB4). In the present study …
Genetic Testing for Rare Diseases
JM Millán, G García-García - Diagnostics, 2022 - mdpi.com
The term rare disease was coined in the 1970s to refer to diseases that have a low
prevalence. However, the definition varies among countries. The European Commission …
prevalence. However, the definition varies among countries. The European Commission …
Low frequency of SLC26A4 c.919-2A > G variant among patients with nonsyndromic hearing loss in Yunnan of Southwest China
YQ Li, H Ma, QY Wang, DS Liu, W Wang, SX Li… - BMC Medical …, 2024 - Springer
Background Gene variants are responsible for more than half of hearing loss, particularly in
nonsyndromic hearing loss (NSHL). The most common pathogenic variant in SLC26A4 …
nonsyndromic hearing loss (NSHL). The most common pathogenic variant in SLC26A4 …
Insight into the Natural History of Pathogenic Variant c.919-2A>G in the SLC26A4 Gene Involved in Hearing Loss: The Evidence for Its Common Origin in Southern …
VY Danilchenko, MV Zytsar, EA Maslova… - Genes, 2023 - mdpi.com
Pathogenic variants in the SLC26A4 gene leading to nonsyndromic recessive deafness
(DFNB4), or Pendred syndrome, are some of the most common causes of hearing loss …
(DFNB4), or Pendred syndrome, are some of the most common causes of hearing loss …
[HTML][HTML] Analysis of SLC26A4 Gene in Individuals with Non Syndromic Hearing Impairment in Relation with GJB2 Associated Mutations
K Rajalakshmi, J Thirunavukkarasu… - Avicenna Journal of …, 2023 - ncbi.nlm.nih.gov
Background: Hearing Loss (HL) is the most common sensory disorder. HL commonly ranges
from mild to severe. Persons with HL face difficulty in hearing conversations or sounds …
from mild to severe. Persons with HL face difficulty in hearing conversations or sounds …
Анализ гена SLC26A4 и его генетического окружения у пациентов с нарушениями слуха и расширенным водопроводом преддверия в Бурятии
АМ Чердонова, ТВ Борисова… - Медицинская …, 2023 - medgen-journal.ru
Аннотация Патогенные варианты гена SLC26A4 ассоциированы как с аутосомно-
рецессивной глухотой 4 типа (DFNB4, OMIM# 600791), так и с синдромом Пендреда …
рецессивной глухотой 4 типа (DFNB4, OMIM# 600791), так и с синдромом Пендреда …