Case report: A case of SLC26A4 mutations causing pendred syndrome and non-cystic fibrosis bronchiectasis [PDF]
Frontiers in Pediatrics, 2023 The SLC26A4 gene encodes the transmembrane protein pendrin, which is involved in the ion transport of chloride (Cl-), iodide (I-) or bicarbonate (HCO3-).
Kang Zhu, Yingkang Jin
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Digenic inheritance of mutations in EPHA2 and SLC26A4 in Pendred syndrome [PDF]
Nature Communications, 2020 While biallelic mutations of the SLC26A4 gene cause non-syndromic hearing loss with enlarged vestibular aqueducts or Pendred syndrome, a considerable number of patients carry mono-allelic mutations.
Mengnan Li +21 more
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Thyroid and breast carcinomas in a patient with Pendred syndrome: a case report and literature review [PDF]
Frontiers in OncologyBackgroundGoiter in the course of Pendred syndrome may in rare cases be associated with thyroid cancer (about 1% of all Pendred syndrome patients).
Hongji Wu +7 more
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Estimating the concentration of therapeutic range using disease-specific iPS cells: Low-dose rapamycin therapy for Pendred syndrome [PDF]
Regenerative Therapy, 2019 Introduction: Pendred syndrome is an autosomal-recessive disease characterized by congenital hearing loss and thyroid goiter. Previously, cell stress susceptibilities were shown to increase in patient-derived cells with intracellular aggregation using an
Makoto Hosoya +6 more
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Transcriptomic Analysis Reveals an Altered Hcy Metabolism in the Stria Vascularis of the Pendred Syndrome Mouse Model [PDF]
Neural Plasticity, 2021 Purpose. Slc26a4-/- mice exhibit severer defects in the development of the cochlea and develop deafness, while the underlying mechanisms responsible for these effects remain unclear.
Wenyue Xue +7 more
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Genetic heterogeneity in patients with enlarged vestibular aqueduct and Pendred syndrome [PDF]
Molecular MedicineBackground Pathogenic variants in the SLC26A4 gene, encoding for Cl−/HCO3 − and I− anion transporter pendrin, are associated with non-syndromic hearing loss with enlarged vestibular aqueduct (NSEVA) and Pendred syndrome (PDS). In the Caucasian population,
Marek Sklenar +9 more
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Congenital chloride diarrhea and Pendred syndrome: case report of siblings with two rare recessive disorders of SLC26 family genes [PDF]
BMC Medical Genetics, 2020 Background Congenital chloride diarrhea (CLD; OMIM 214700) is a rare autosomal recessive disorder caused by pathogenic variations in the solute carrier family 26 member A3 (SLC26A3) gene.
Eva Lindberg +4 more
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Compound Heterozygosity for Two Novel Mutations in a Large Iranian Pedigree with Pendred Syndrome [PDF]
Clinical and Experimental Otorhinolaryngology, 2013 ObjectivesThe aim of this study was to detect the genetic cause of deafness in a large Iranian family. Due to the importance of SLC26A4 in causing hearing loss, information about the gene mutations can be beneficial in molecular detection and management ...
Nasrin Yazdanpanahi +7 more
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Speech Perception and Production in Cochlear Implant Recipients with Pendred Syndrome [PDF]
Balkan Medical Journal, 2021 Jiri Skrivan +6 more
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Pendred Syndrome, or Not Pendred Syndrome? That Is the Question [PDF]
Genes, 2021 Anna Morgan, Elisa Rubinato, Eva Orzan
exaly +2 more sources