Case report: A case of SLC26A4 mutations causing pendred syndrome and non-cystic fibrosis bronchiectasis
Sign Up to like & getrecommendations! Published in 2023 at "Frontiers in Pediatrics"
DOI: 10.3389/fped.2022.1077878
Abstract: The SLC26A4 gene encodes the transmembrane protein pendrin, which is involved in the ion transport of chloride (Cl-), iodide (I-) or bicarbonate (HCO3-). Mutations in the SLC26A4 gene alter the structure and (or) function of… read more here.
Keywords: bronchiectasis; slc26a4 gene; case report; case ... See more keywords
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)
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DOI: 10.3390/genes14040928
Abstract: 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 worldwide. Earlier, we found a high proportion of SLC26A4-related hearing… read more here.
Keywords: slc26a4 gene; pathogenic variant; hearing loss; variant 919 ... See more keywords
Selection of Diagnostically Significant Regions of the SLC26A4 Gene Involved in Hearing Loss
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms232113453
Abstract: 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 HL in many populations. However, a… read more here.
Keywords: hearing loss; selection diagnostically; gene; slc26a4 gene ... See more keywords