Associated Papers
Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.
Khan H et al.
Scientific Reports, 2024
The Segregation of p.Arg68Ter-CLDN14 Mutation in a Syrian Deaf Family, Phenotypic Variations, and Comparative Analysis with the GJB2 Gene.
Tlili A et al.
Genes, 2024
Autosomal recessive non-syndromic hearing loss genes in Pakistan during the previous three decades.
Shadab M et al.
Journal of Cellular and Molecular Medicine, 2024
Global Distribution of Founder Variants Associated with Non-Syndromic Hearing Impairment.
Aboagye ET et al.
Genes, 2023
Molecular genetic landscape of hereditary hearing loss in Pakistan.
Naz S
Human Genetics, 2022
Genetics Landscape of Nonsyndromic Hearing Loss in Indian Populations.
Ray M et al.
Journal of Pediatric Genetics, 2022
Association study of CLDN14 variations in patients with kidney stones.
Ullah I et al.
Open Life Sciences, 2022
Review: Understanding Rare Genetic Diseases in Low Resource Regions Like Jammu and Kashmir - India.
Angural A et al.
Frontiers in Genetics, 2020
Mouse Models of Human Claudin-Associated Disorders: Benefits and Limitations.
Seker M et al.
International Journal of Molecular Sciences, 2019
Detailed Clinical Features of Deafness Caused by a Claudin-14 Variant.
Kitano T et al.
International Journal of Molecular Sciences, 2019
Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss.
Richard EM et al.
Human Mutation, 2019
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sheppard S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Genetic analysis of CLDN14 in the Chinese population affected with non-syndromic hearing loss.
Lu Y et al.
International Journal of Pediatric Otorhinolaryngology, 2018
Mutations in OTOF, CLDN14 & SLC26A4 genes as major causes of hearing impairment in Dhadkai village, Jammu & Kashmir, India.
Pandey N et al.
The Indian Journal of Medical Research, 2017
Genetic causes of moderate to severe hearing loss point to modifiers.
Naz S et al.
Clinical Genetics, 2017
Mutations of SGO2 and CLDN14 collectively cause coincidental Perrault syndrome.
Faridi R et al.
Clinical Genetics, 2017
A common variant in CLDN14 causes precipitous, prelingual sensorineural hearing loss in multiple families due to founder effect.
Pater JA et al.
Human Genetics, 2017
The Genetic Basis of Nonsyndromic Hearing Loss in Indian and Pakistani Populations.
Yan D et al.
Genetic Testing and Molecular Biomarkers, 2015
Genetic analysis of genes related to tight junction function in the Korean population with non-syndromic hearing loss.
Kim MA et al.
Plos One, 2014
The role of claudin in hypercalciuric nephrolithiasis.
Hou J
Current Urology Reports, 2013
Phenotypic variability of CLDN14 mutations causing DFNB29 hearing loss in the Pakistani population.
Bashir ZE et al.
Journal of Human Genetics, 2013
Novel CLDN14 mutations in Pakistani families with autosomal recessive non-syndromic hearing loss.
Lee K et al.
American Journal of Medical Genetics. Part A, 2012
Do cell junction protein mutations cause an airway phenotype in mice or humans?
Chang EH et al.
American Journal of Respiratory Cell and Molecular Biology, 2011
Mutations in CLDN14 are associated with different hearing thresholds.
Bashir R et al.
Journal of Human Genetics, 2010
Sequence variants in the CLDN14 gene associate with kidney stones and bone mineral density.
Thorleifsson G et al.
Nature Genetics, 2009
Different mechanisms preclude mutant CLDN14 proteins from forming tight junctions in vitro.
Wattenhofer M et al.
Human Mutation, 2005
Mutations in the gene encoding tight junction claudin-14 cause autosomal recessive deafness DFNB29.
Wilcox ER et al.
Cell, 2001