Increased airway surface liquid and decreased mucin expression in pendrin-deficient human airway epithelia [PDF]
, 2015 의과대학/박사Pendrin is an anion exchanger whose mutations are known to cause hearing loss. However, recent data support the linkage between pendrin expression and airway diseases, such as asthma. To evaluate the role of pendrin in the regulation of the airway
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Hereditary deafness carrier screening in 9,993 Chinese individuals. [PDF]
Front Genet, 2023 Liu Y +7 more
europepmc +1 more source
SLC26A4 Phenotypic Variability Influences Intra- and Inter-Familial Diagnosis and Management. [PDF]
Genes (Basel), 2022 Tawalbeh M +9 more
europepmc +1 more source
Analysis of SLC26A4, FOXI1, and KCNJ10 Gene Variants in Patients with Incomplete Partition of the Cochlea and Enlarged Vestibular Aqueduct (EVA) Anomalies [PDF]
Int J Mol Sci, 2022 Klarov LA +8 more
europepmc +1 more source
Blended Phenotype of Pelger-Huet Anomaly with Osteochondroma and Autosomal Recessive Deafness with Enlarged Vestibular Aqueduct. [PDF]
Mol Syndromol, 2022 Cinleti T +5 more
europepmc +1 more source
Haplotype Analysis for DFNB4/PDS Locus in Hearing Impaired Families of Punjab (Pakistan) [PDF]
, 2012 : Deafness is one of the most common genetic disorders affecting 1 in 1000 newborns worldwide, while in Pakistan, its prevalence is 1.6/1000.The present study was conducted to map reported autosomal recessive deafness locus DFNB4/PDS in highly ...
Arshia Iram +9 more
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Mechanism of Anion Exchange and Small-Molecule Inhibition of Pendrin [PDF]
Pendrin (SLC26A4) is an anion exchanger that mediates bicarbonate (HCO3−) exchange for chloride (Cl−) and is crucial for maintaining pH and salt homeostasis in the kidney, lung, and cochlea. Pendrin also exports iodide (I−) in the thyroid gland.
Gil-Iturbe, Eva +5 more
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Molecular Features of SLC26A4 Common Variant p.L117F. [PDF]
J Clin Med, 2022 Matulevičius A +5 more
europepmc +1 more source
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 Siberia (Russia). [PDF]
Genes (Basel), 2023 Danilchenko VY +4 more
europepmc +1 more source
Single-cell RNA-sequencing of stria vascularis cells in the adult Slc26a4<sup>-/-</sup> mouse. [PDF]
BMC Med Genomics, 2023 Koh JY +8 more
europepmc +1 more source