Associated Papers
Association study of CLDN14 variations in patients with kidney stones.
Ullah I et al.
Open Life Sciences, 2022
AMMECR1: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosis.
Andreoletti G et al.
Journal of Medical Genetics, 2017
27811305 (PubMed )
Supplement: jmedgenet-2016-104100supp002.pdf
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
Analysis of CLDN14 gene in deaf Moroccan patients with non-syndromic hearing loss.
Charif M et al.
Gene, 2013
Genetic and molecular analysis of the CLDN14 gene in Moroccan family with non-syndromic hearing loss.
Charif M et al.
Indian Journal of Human Genetics, 2013
Integrating precision medicine in the study and clinical treatment of a severely mentally ill person.
O'Rawe JA et al.
Peerj, 2013
24109560 (PubMed )
Supplement: peerj-01-177-s004.pdf
Different mechanisms preclude mutant CLDN14 proteins from forming tight junctions in vitro.
Wattenhofer M et al.
Human Mutation, 2005
Frequencies of gap- and tight-junction mutations in Turkish families with autosomal-recessive non-syndromic hearing loss.
Uyguner O et al.
Clinical Genetics, 2003
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