SLC26A4 Mutation Promotes Cell Apoptosis by Inducing Pendrin Transfer, Reducing Cl- Transport, and Inhibiting PI3K/Akt/mTOR Pathway
X Dai, J Li, XJ Hu, J Ye, WQ Cai - BioMed Research …, 2022 - Wiley Online Library
… Furthermore, we found that transfection with wild-type SLC26A4 greatly upregulated CLIC1
… levels were determined. We found that transfection with wild-type SLC26A4 significantly …
… levels were determined. We found that transfection with wild-type SLC26A4 significantly …
The mutation frequencies of GJB2, GJB3, SLC26A4 and MT-RNR1 of patients with severe to profound sensorineural hearing loss in northwest China
XW Liu, JC Wang, SY Wang, SJ Li, YM Zhu… - International Journal of …, 2020 - Elsevier
… Our results showed that GJB2 and SLC26A4 were the two major HL-causing genes in
northwest China. The most common mutation alleles in GJB2 were c.235delC, c.109G>A and c.…
northwest China. The most common mutation alleles in GJB2 were c.235delC, c.109G>A and c.…
[HTML][HTML] The molecular principles underlying diverse functions of the SLC26 family of proteins
S Takahashi, K Homma - Journal of Biological Chemistry, 2024 - ASBMB
… In this study, we sought to identify the common versus distinct molecular mechanism among
… artificial missense changes introduced to SLC26A4, SLC26A5, and SLC26A9. We found: (i) …
… artificial missense changes introduced to SLC26A4, SLC26A5, and SLC26A9. We found: (i) …
[HTML][HTML] SLC26A9 as a potential modifier and therapeutic target in cystic fibrosis lung disease
G Gorrieri, F Zara, P Scudieri - Biomolecules, 2022 - mdpi.com
… diarrhea [4], and SLC26A4 in Pendred syndrome and hereditary … Cl − secretion in the airways
of wild-type but not SLC26A9-… CF patients, particularly those carrying gating mutations and …
of wild-type but not SLC26A9-… CF patients, particularly those carrying gating mutations and …
[HTML][HTML] Case report: A case of SLC26A4 mutations causing pendred syndrome and non-cystic fibrosis bronchiectasis
K Zhu, Y Jin - Frontiers in Pediatrics, 2023 - frontiersin.org
… Based on the above analysis, we speculated that mutations in the SLC26A4 (… We explained
the analysis and speculative conclusions to the patient's … WT, wild type; het, heterozygous. …
the analysis and speculative conclusions to the patient's … WT, wild type; het, heterozygous. …
Custom Next‐Generation Sequencing Identifies Novel Mutations Expanding the Molecular and clinical spectrum of isolated Hearing Impairment or along with defects …
MB Said, IB Ayed, I Elloumi, M Hasnaoui… - … Genetics & Genomic …, 2022 - Wiley Online Library
… The sequence of the wild-type CDH23 (UniProtKB - Q9H251), and SLC26A4 (UniProtKB-…
functional analysis for SLC26A4- Ile71Asn mutation (d) Sequence comparison of SLC26A4 …
functional analysis for SLC26A4- Ile71Asn mutation (d) Sequence comparison of SLC26A4 …
Targeted mutation analysis of the SLC26A4, MYO6, PJVK and CDH23 genes in Iranian patients with AR nonsyndromic hearing loss
M Alimardani, SM Hosseini, MS Khaniani… - Fetal and Pediatric …, 2019 - Taylor & Francis
… with ARNSHL in which we found none in the 100 subjects tested. … frequencies of targeted
mutations in SLC26A4, CDH23, PJVK and MYO6 genes in 100 Iranian patients with NSHL with …
mutations in SLC26A4, CDH23, PJVK and MYO6 genes in 100 Iranian patients with NSHL with …
Identification and computational analysis of USH1C, and SLC26A4 variants in Pakistani families with prelingual hearing loss
… to wild type protein, in which 93 residues (labeled amino acids) are outliers, the p.Glu50
change predicted 100 residues in outlier region. (c) Wild type and mutant residues of SLC26A4 …
change predicted 100 residues in outlier region. (c) Wild type and mutant residues of SLC26A4 …
[HTML][HTML] Chloride/Multiple Anion Exchanger SLC26A Family: Systemic Roles of SLC26A4 in Various Organs
… to recover expression of SLC26A4, which is mutated in SLC26A4-related hearing loss. This
is … deletion of the Slc26a4 gene in a mouse model than in wild-type mice [54]. The deletion of …
is … deletion of the Slc26a4 gene in a mouse model than in wild-type mice [54]. The deletion of …
A novel missense mutation in the SLC26A4 gene in a chinese family with enlarged vestibular aqueducts
X He, S Zhao, L Shi, Y Lu, Y Yang, X Zhang - 2022 - researchsquare.com
… Our studies expand the mutation site of SLC26A4 gene and provide genetic … patient and
her mother is c.2069T>A heterozygous mutation of SLC26A4 H The patient’s mother is wild-type …
her mother is c.2069T>A heterozygous mutation of SLC26A4 H The patient’s mother is wild-type …