Associated Papers
Novel pathogenic WHRN variant causing hearing loss in a moroccan family.
AitRaise I et al.
Molecular Biology Reports, 2023
Usher syndrome and non-syndromic deafness: Functions of different whirlin isoforms in the cochlea, vestibular organs, and retina.
Mathur PD et al.
Hearing Research, 2019
Distinct expression and function of whirlin isoforms in the inner ear and retina: an insight into pathogenesis of USH2D and DFNB31.
Mathur PD et al.
Human Molecular Genetics, 2015
A novel DFNB31 mutation associated with Usher type 2 syndrome showing variable degrees of auditory loss in a consanguineous Portuguese family.
Audo I et al.
Molecular Vision, 2011
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
20507906 (PubMed )
Supplement: gkq472_nar-00429-web-b-2010-File006.xls › MPO_to_OMIM_allelic_Variants
Ablation of whirlin long isoform disrupts the USH2 protein complex and causes vision and hearing loss.
Yang J et al.
Plos Genetics, 2010
A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss.
Ebermann I et al.
Human Genetics, 2007
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
Identification of a novel frameshift mutation in the DFNB31/WHRN gene in a Tunisian consanguineous family with hereditary non-syndromic recessive hearing loss.
Tlili A et al.
Human Mutation, 2005
Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31.
Mburu P et al.
Nature Genetics, 2003
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