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
Novel compound heterozygous variants in MARVELD2 causing autosomal recessive hearing loss in two Chinese families.
Shi X et al.
Molecular Genetics & Genomic Medicine, 2024
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic Medicine, 2024
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
Quantitative thresholds for variant enrichment in 13,845 cases: improving pathogenicity classification in genetic hearing loss.
Liu S et al.
Genome Medicine, 2023
A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in Indians.
Kausthubham N et al.
Human Mutation, 2021
A Rare Mutation in the MARVELD2 Gene Can Cause Nonsyndromic Hearing Loss.
Sadeghi Z et al.
International Medical Case Reports Journal, 2020
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
Tricellular junctions: how to build junctions at the TRICkiest points of epithelial cells.
Higashi T et al.
Molecular Biology of the Cell, 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
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 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
Tricellulin deficiency affects tight junction architecture and cochlear hair cells.
Nayak G et al.
The Journal of Clinical Investigation, 2013
Analysis of the 'angulin' proteins LSR, ILDR1 and ILDR2--tricellulin recruitment, epithelial barrier function and implication in deafness pathogenesis.
Higashi T et al.
Journal of Cell Science, 2013
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
A mutation in the Srrm4 gene causes alternative splicing defects and deafness in the Bronx waltzer mouse.
Nakano Y et al.
Plos 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
A comprehensive introduction to the genetic basis of non-syndromic hearing loss in the Saudi Arabian population.
Imtiaz F et al.
Bmc Medical Genetics, 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