Associated Papers
Pregestational screening of hereditary deafness genes carriers in 10,684 normal pregnant women in Zhuzhou, China.
Qi M et al.
Birth Defects Research, 2021
Gjb3 Gene Mutations in Non-Syndromic Hearing Loss of Bloch, Kurd, and Turkmen Ethnicities in Iran.
Aliazami F et al.
Iranian Journal of Public Health, 2020
Genome scale analysis of pathogenic variants targetable for single base editing.
Lavrov AV et al.
Bmc Medical Genomics, 2020
Exome Sequencing Identifies a Novel Nonsense Mutation of MYO6 as the Cause of Deafness in a Brazilian Family.
Sampaio-Silva J et al.
Annals of Human Genetics, 2018
A novel missense mutation in the SLC26A4 gene causes nonsyndromic hearing loss and enlarged vestibular aqueduct.
He X et al.
International Journal of Pediatric Otorhinolaryngology, 2017
Development and validation of a fetal genotyping assay with potential for noninvasive prenatal diagnosis of hereditary hearing loss.
Chen Y et al.
Prenatal Diagnosis, 2016
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
Mechanism of a novel missense mutation, p.V174M, of the human connexin31 (GJB3) in causing nonsyndromic hearing loss.
Li TC et al.
Biochemistry and Cell Biology = Biochimie Et Biologie Cellulaire, 2014
The role of connexins in ear and skin physiology - functional insights from disease-associated mutations.
Xu J et al.
Biochimica Et Biophysica Acta, 2013
Key functions for gap junctions in skin and hearing.
Scott CA et al.
The Biochemical Journal, 2011
Gap-junction channels dysfunction in deafness and hearing loss.
Martínez AD et al.
Antioxidants & Redox Signaling, 2009
Gap junctions and connexins in the inner ear: their roles in homeostasis and deafness.
Nickel R et al.
Current Opinion in Otolaryngology & Head and Neck Surgery, 2008
Intracellular distribution, assembly and effect of disease-associated connexin 31 mutants in HeLa cells.
He LQ et al.
Acta Biochimica Et Biophysica Sinica, 2005
Connexin mutations in hearing loss, dermatological and neurological disorders.
Rabionet R et al.
Trends in Molecular Medicine, 2002
Mutations in connexin31 underlie recessive as well as dominant non-syndromic hearing loss.
Liu XZ et al.
Human Molecular Genetics, 2000