Associated Papers
Caste-based genetic diagnosis: evidence from a pathogenic SLC26A4 variant implicated in hereditary hearing loss.
Bhinder MA et al.
Journal of Tropical Pediatrics, 2026
Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.
Ayoub C et al.
Human Genomics, 2025
Genetics of prelingual isolated deafness and Usher syndrome in the Maghreb and Jordan: Harnessing the potential of homozygosity.
Riahi Z et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
Whole-exome sequencing for genetic screening in high-risk populations: Insights from consanguineous Palestinian families.
Hodrob T et al.
Journal of Genetic Counseling, 2025
Assessing the Functional Significance of Novel and Rare Variants of the SLC26A4 Gene Found in Patients with Hearing Loss by Minigene Assay.
Danilchenko VY et al.
International Journal of Molecular Sciences, 2025
Genetic landscape of hearing loss in prelingual deaf patients of eastern Iran: Insights from exome sequencing analysis.
Alerasool M et al.
Clinical Genetics, 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
Spectrum of Genes for Non-GJB2-Related Non-Syndromic Hearing Loss in the Russian Population Revealed by a Targeted Deafness Gene Panel.
Shatokhina O et al.
International Journal of Molecular Sciences, 2022
Analysis of SLC26A4, FOXI1, and KCNJ10 Gene Variants in Patients with Incomplete Partition of the Cochlea and Enlarged Vestibular Aqueduct (EVA) Anomalies
Klarov LA et al.
International Journal of Molecular Sciences, 2022
Kidney ion handling genes and their interaction in blood pressure control.
An C et al.
Bioscience Reports, 2022
Molecular diagnose of a large hearing loss population from China by targeted genome sequencing.
Wu J et al.
Journal of Human Genetics, 2022
Insights of Noncanonical Splice-site Variants on RNA Splicing in Patients With Congenital Hypothyroidism.
Albader N et al.
The Journal of Clinical Endocrinology and Metabolism, 2022
Molecular diagnosis of SLC26A4-related hereditary hearing loss in a group of patients from two provinces of Iran.
Koohiyan M et al.
Intractable & Rare Diseases Research, 2021
NGS-based expanded carrier screening for genetic disorders in North Indian population reveals unexpected results - a pilot study.
Singh K et al.
Bmc Medical Genetics, 2020
Genetic Epidemiology of Hearing Loss in the 22 Arab Countries: A Systematic Review.
Sidenna M et al.
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2020
Systematic quantification of the anion transport function of pendrin (SLC26A4) and its disease-associated variants.
Wasano K et al.
Human Mutation, 2020
Modified U1 snRNA and antisense oligonucleotides rescue splice mutations in SLC26A4 that cause hereditary hearing loss.
Lee B et al.
Human Mutation, 2019
Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss.
Richard EM et al.
Human Mutation, 2019
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
Novel pathogenic variants underlie SLC26A4-related hearing loss in a multiethnic cohort.
Cengiz FB et al.
International Journal of Pediatric Otorhinolaryngology, 2017
An update of common autosomal recessive non-syndromic hearing loss genes in Iranian population.
Ghasemnejad T et al.
International Journal of Pediatric Otorhinolaryngology, 2017
Mapping pathogenic mutations suggests an innovative structural model for the pendrin (SLC26A4) transmembrane domain.
Bassot C et al.
Biochimie, 2017
[Results of molecular genetic testing in Russian patients with Pendred syndrome and allelic disorders].
Mironovich OL et al.
Genetika, 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
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
Identification of PENDRIN (SLC26A4) mutations in patients with congenital hypothyroidism and "apparent" thyroid dysgenesis.
Kühnen P et al.
The Journal of Clinical Endocrinology and Metabolism, 2014
Compound heterozygous mutations of SLC26A4 in 4 Chinese families with enlarged vestibular aqueduct.
Yao G et al.
International Journal of Pediatric Otorhinolaryngology, 2013
A comprehensive study to determine heterogeneity of autosomal recessive nonsyndromic hearing loss in Iran.
Babanejad M et al.
American Journal of Medical Genetics. Part A, 2012
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
Functional characterization of pendrin mutations found in the Israeli and Palestinian populations.
Dossena S et al.
Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology, 2011
Genetic causes of nonsyndromic hearing loss in Iran in comparison with other populations.
Mahdieh N et al.
Journal of Human Genetics, 2010
Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families.
Shahin H et al.
European Journal of Human Genetics : Ejhg, 2010
Identification of SLC26A4 gene mutations in Iranian families with hereditary hearing impairment.
Kahrizi K et al.
European Journal of Pediatrics, 2009
The responsible genes in Japanese deafness patients and clinical application using Invader assay.
Usami S et al.
Acta Oto-laryngologica, 2008
Genomic analysis of a heterogeneous Mendelian phenotype: multiple novel alleles for inherited hearing loss in the Palestinian population.
Walsh T et al.
Human Genomics, 2006