Associated Papers
Prevalence of pendrin defects in sudanese families with congenital hypothyroidism.
Islam MS et al.
Endocrine, 2025
Identifying DNA Variants in a Turkish Cohort with Inner Ear Anomalies.
Yilmaz U et al.
Ear, Nose, & Throat Journal, 2024
Functional Studies of Deafness-Associated Pendrin and Prestin Variants.
Takahashi S et al.
International Journal of Molecular Sciences, 2024
Functional studies of deafness-associated pendrin and prestin variants.
Takahashi S et al.
Biorxiv : the Preprint Server for Biology, 2024
Asymmetric pendrin homodimer reveals its molecular mechanism as anion exchanger.
Liu Q et al.
Nature Communications, 2023
Selection of Diagnostically Significant Regions of the SLC26A4 Gene Involved in Hearing Loss.
Danilchenko VY et al.
International Journal of Molecular Sciences, 2022
Exomes of Ductal Luminal Breast Cancer Patients from Southwest Colombia: Gene Mutational Profile and Related Expression Alterations.
Cortes-Urrea C et al.
Biomolecules, 2020
Systematic quantification of the anion transport function of pendrin (SLC26A4) and its disease-associated variants.
Wasano K et al.
Human Mutation, 2020
Genomic Landscape and Mutational Signatures of Deafness-Associated Genes.
Azaiez H et al.
American Journal of Human Genetics, 2018
Homology of pendrin, sodium-iodide symporter and apical iodide transporter.
Benvenga S et al.
Frontiers in Bioscience (landmark Edition), 2018
Molecular analysis of human solute carrier SLC26 anion transporter disease-causing mutations using 3-dimensional homology modeling.
Rapp C et al.
Biochimica Et Biophysica Acta. Biomembranes, 2017
A Novel Mutation in SLC26A4 Causes Nonsyndromic Autosomal Recessive Hearing Impairment.
Wolf A et al.
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2017
Mapping pathogenic mutations suggests an innovative structural model for the pendrin (SLC26A4) transmembrane domain.
Bassot C et al.
Biochimie, 2017
Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort.
Bademci G et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
Mutation analysis of the SLC26A4, FOXI1 and KCNJ10 genes in individuals with congenital hearing loss.
Pique LM et al.
Peerj, 2014
Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in Pendred syndrome/enlarged vestibular aqueducts.
Landa P et al.
Bmc Medical Genetics, 2013
Screening of SLC26A4 gene in autoimmune thyroid diseases.
Kallel R et al.
International Journal of Immunogenetics, 2013
Molecular and functional studies of 4 candidate loci in Pendred syndrome and nonsyndromic hearing loss.
Cirello V et al.
Molecular and Cellular Endocrinology, 2012
Mutation analysis of SLC26A4 for Pendred syndrome and nonsyndromic hearing loss by high-resolution melting.
Chen N et al.
The Journal of Molecular Diagnostics : Jmd, 2011
Molecular and functional characterization of human pendrin and its allelic variants.
Dossena S et al.
Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology, 2011
Identification of allelic variants of pendrin (SLC26A4) with loss and gain of function.
Dossena S et al.
Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology, 2011
SLC26A4 variations among Graves' hyper-functioning thyroid gland.
Hadj-Kacem H et al.
Disease Markers, 2010
The rocky road toward clinical genetic testing: insights into the physio-genetic basis of hearing loss.
Runge-Samuelson C et al.
Physiological Genomics, 2009
Distinct and novel SLC26A4/Pendrin mutations in Chinese and U.S. patients with nonsyndromic hearing loss.
Dai P et al.
Physiological Genomics, 2009
Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVA.
Pera A et al.
Proceedings of the National Academy of Sciences of the United States of America, 2008
The responsible genes in Japanese deafness patients and clinical application using Invader assay.
Usami S et al.
Acta Oto-laryngologica, 2008
Variant Reclassification in Underrepresented Minority Children With Sensorineural Hearing Loss.
Scaria SM et al.
Ear and Hearing, 0