SLC26A4 expression among autoimmune thyroid tissues
Immunobiology, 2011 The PDS gene (SLC26A4) is responsible for Pendred syndrome (PS). Genetic analysis of PDS using Tunisian samples showed evidence for linkage and association with autoimmune thyroid diseases (AITD) emergence. In addition, the PDS gene product, pendrin, was recently identified as a novel autoantigen in Graves' disease (GD) or Hashimoto thyroiditis (HT ...
Salima, Belguith-Maalej +9 more
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SLC26A4 mutation in Pendred syndrome with hypokalemia: A case report
Medicine, 2022 Rationale: Pendred syndrome is an autosomal recessive disorder characterized by sensorineural hearing loss, inner ear malformations, goiter, and abnormal organification of iodide. It is caused by mutations in SLC26A4 gene, which encodes pendrin (a transporter of chloride, bicarbonate, and iodide).
Ya-Ting Lu +5 more
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Genetic Factors That Might Lead to Different Responses in Individuals Exposed to Perchlorate [PDF]
, 2005 Perchlorate has been detected in groundwater in many parts of the United States, and recent detection in vegetable and dairy food products indicates that contamination by perchlorate is more widespread than previously thought.
Fowler, Bruce A. +4 more
core +2 more sources
SLC26A4 Mutations in Patients with Moderate to Severe Hearing Loss [PDF]
Biochemical Genetics, 2013 Mutations in SLC26A4 cause either syndromic or nonsyndromic hearing loss. We identified a link between hearing loss and DFNB4 in 3 of the 50 families participating in this study. Sequencing analysis revealed two SLC26A4 mutations, p.V239D and p.S57X, in affected members of the 3 families.
Muhammad Riaz, Khan +2 more
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Single-cell RNA-sequencing of stria vascularis cells in the adult Slc26a4 -/- mouse
BMC Medical Genomics, 2023 Background The primary pathological alterations of Pendred syndrome are endolymphatic pH acidification and luminal enlargement of the inner ear. However, the molecular contributions of specific cell types remain poorly characterized.
Jin-Young Koh +8 more
doaj +1 more source
Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in pendred syndrome/enlarged vestibular aqueducts [PDF]
, 2013 Pendred syndrome is a common autosomal recessive disorder causing deafness. Features include sensorineural hearing impairment, goitre, enlarged vestibular aqueducts (EVA) and occasionally Mondini dysplasia.
Bitner-Glindzicz, M +4 more
core +2 more sources
SLC26A4-AS1 Aggravates AngII-induced Cardiac Hypertrophy by Enhancing SLC26A4 Expression.
Arquivos brasileiros de cardiologia, 2023 It has been reported that solute carrier family 26 members 4 antisense RNA 1 (SLC26A4-AS1) is highly related to cardiac hypertrophy.This research aims to investigate the role and specific mechanism of SLC26A4-AS1 in cardiac hypertrophy, providing a novel marker for cardiac hypertrophy treatment.Angiotensin II (AngII) was infused into neonatal mouse ...
Xiaoliang, Han +6 more
openaire +1 more source
Genotyping Data and Novel Haplotype Diversity of STR Markers in the SLC26A4 Gene Region in Five Ethnic Groups of the Iranian Population [PDF]
, 2014 Background and Aims: SLC26A4 gene mutations are the second currently identifiable genetic cause of autosomal recessive nonsyndromic hearing loss after GJB2 mutations.
Hashemzadeh-Chaleshtori, Morteza. +3 more
core +1 more source
Genetic Screening of and in Korean Cochlear Implantees: Experience of Soree Ear Clinic [PDF]
Clinical and Experimental Otorhinolaryngology, 2012 ObjectivesGenetic hearing loss is highly heterogeneous and more than 100 genes are predicted to cause this disorder in humans. In spite of this large genetic heterogeneity, mutations in SLC26A4 and GJB2 genes are primarily responsible for the major ...
Joong-Wook Shin +3 more
doaj +1 more source
Exome sequencing identifies SLC26A4, GJB2, SCARB2 and DUOX2 mutations in 2 siblings with Pendred syndrome in a Malaysian family [PDF]
, 2017 List of PCR primers used.
Jia-Shiun Khoo +6 more
core +3 more sources