Associated Papers
Bi-Allelic MARVELD2 Variant Identified with Exome Sequencing in a Consanguineous Multiplex Ghanaian Family Segregating Non-Syndromic Hearing Loss.
Twumasi Aboagye E et al.
International Journal of Molecular Sciences, 2025
40244166 (PubMed )
Supplement: ijms-26-03337-s001.zip › ijms-3532175-supplementary.pdf
Case report: A novel nonsense mutation in the MARVELD2 gene causes nonsyndromic hearing loss in a China family.
Huang C et al.
Frontiers in Genetics, 2024
A novel pathogenic variant in the MARVELD2 gene causes autosomal recessive non-syndromic hearing loss in an Iranian family.
Taghipour-Sheshdeh A et al.
Genomics, 2019
Transcription-coupled RNA surveillance in human genetic diseases caused by splice site mutations.
Vaz-Drago R et al.
Human Molecular Genetics, 2015
Molecular genetics of MARVELD2 and clinical phenotype in Pakistani and Slovak families segregating DFNB49 hearing loss.
Nayak G et al.
Human Genetics, 2015
MARVELD2 (DFNB49) mutations in the hearing impaired Central European Roma population--prevalence, clinical impact and the common origin.
Mašindová I et al.
Plos One, 2015
DFNB49 is an important cause of non-syndromic deafness in Czech Roma patients but not in the general Czech population.
Šafka Brožková D et al.
Clinical Genetics, 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
Splice-site mutations in the TRIC gene underlie autosomal recessive nonsyndromic hearing impairment in Pakistani families.
Chishti MS et al.
Journal of Human Genetics, 2008
Tricellulin is a tight-junction protein necessary for hearing.
Riazuddin S et al.
American Journal of Human Genetics, 2006
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