Associated Papers
Large-pore connexin hemichannels function like molecule transporters independent of ion conduction.
Gaete PS et al.
Proceedings of the National Academy of Sciences of the United States of America, 2024
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
Connexin Mutations and Hereditary Diseases.
Qiu Y et al.
International Journal of Molecular Sciences, 2022
The QChip1 knowledgebase and microarray for precision medicine in Qatar.
Rodriguez-Flores JL et al.
Npj Genomic Medicine, 2022
Connexin Genes Variants Associated with Non-Syndromic Hearing Impairment: A Systematic Review of the Global Burden.
Adadey SM et al.
Life (basel, Switzerland), 2020
Inner Ear Connexin Channels: Roles in Development and Maintenance of Cochlear Function.
Mammano F
Cold Spring Harbor Perspectives in Medicine, 2019
Astroglial Cx30 sustains neuronal population bursts independently of gap-junction mediated biochemical coupling.
Pannasch U et al.
Glia, 2019
A deafness mechanism of digenic Cx26 (GJB2) and Cx30 (GJB6) mutations: Reduction of endocochlear potential by impairment of heterogeneous gap junctional function in the cochlear lateral wall.
Mei L et al.
Neurobiology of Disease, 2017
In Vitro Models of GJB2-Related Hearing Loss Recapitulate Ca2+ Transients via a Gap Junction Characteristic of Developing Cochlea.
Fukunaga I et al.
Stem Cell Reports, 2016
Functional Analysis of a Novel Connexin30 Mutation in a Large Family with Hearing Loss, Pesplanus, Ichthyosis, Cutaneous Nodules, and Keratoderma.
Pandey N et al.
Annals of Human Genetics, 2016
Connexins and gap junctions in the inner ear--it's not just about K⁺ recycling.
Jagger DJ et al.
Cell and Tissue Research, 2015
The Sarcoglycan complex is expressed in the cerebrovascular system and is specifically regulated by astroglial Cx30 channels.
Boulay AC et al.
Frontiers in Cellular Neuroscience, 2015
Cellular and Deafness Mechanisms Underlying Connexin Mutation-Induced Hearing Loss - A Common Hereditary Deafness.
Wingard JC et al.
Frontiers in Cellular Neuroscience, 2015
Connexin46fs380 causes progressive cataracts.
Berthoud VM et al.
Investigative Ophthalmology & Visual Science, 2014
Syndromic and non-syndromic disease-linked Cx43 mutations.
Laird DW
Febs Letters, 2014
Mutations in Cx30 that are linked to skin disease and non-syndromic hearing loss exhibit several distinct cellular pathologies.
Berger AC et al.
Journal of Cell Science, 2014
The plasma membrane calcium pump in health and disease.
Brini M et al.
The Febs Journal, 2013
[High-throughout detection and analysis of drug-resistance gene mutation for 2465 cases with chronic hepatitis B in Shenzhen].
Chen YY et al.
Zhonghua Shi Yan He Lin Chuang Bing Du Xue Za Zhi = Zhonghua Shiyan He Linchuang Bingduxue Zazhi = Chinese Journal of Experimental and Clinical Virology, 2013
The role of connexins in ear and skin physiology - functional insights from disease-associated mutations.
Xu J et al.
Biochimica Et Biophysica Acta, 2013
Novel connexin 30 and connexin 26 mutational spectrum in patients with progressive sensorineural hearing loss.
Battelino S et al.
The Journal of Laryngology and Otology, 2012
Autosomal recessive nonsyndromic deafness genes: a review.
Duman D et al.
Frontiers in Bioscience (landmark Edition), 2012
Key functions for gap junctions in skin and hearing.
Scott CA et al.
The Biochemical Journal, 2011
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 novel missense mutation in the connexin30 causes nonsyndromic hearing loss.
Wang WH et al.
Plos One, 2011
The human deafness-associated connexin 30 T5M mutation causes mild hearing loss and reduces biochemical coupling among cochlear non-sensory cells in knock-in mice.
Schütz M et al.
Human Molecular Genetics, 2010
Diverse deafness mechanisms of connexin mutations revealed by studies using in vitro approaches and mouse models.
Hoang Dinh E et al.
Brain Research, 2009
Function and expression pattern of nonsyndromic deafness genes.
Hilgert N et al.
Current Molecular Medicine, 2009
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
Identification of mutations in members of the connexin gene family as a cause of nonsyndromic deafness in Taiwan.
Yang JJ et al.
Audiology & Neuro-otology, 2007
High frequency of 35delG GJB2 mutation and absence of del(GJB6-D13S1830) in Greek Cypriot patients with nonsyndromic hearing loss.
Neocleous V et al.
Genetic Testing, 2006
Gap junction-mediated intercellular biochemical coupling in cochlear supporting cells is required for normal cochlear functions.
Zhang Y et al.
Proceedings of the National Academy of Sciences of the United States of America, 2005
Connexin30 mutations responsible for hidrotic ectodermal dysplasia cause abnormal hemichannel activity.
Essenfelder GM et al.
Human Molecular Genetics, 2004
A phenotype resembling the Clouston syndrome with deafness is associated with a novel missense GJB2 mutation.
van Steensel MA et al.
The Journal of Investigative Dermatology, 2004
Further evidence for heterozygote advantage of GJB2 deafness mutations: a link with cell survival.
Common JE et al.
Journal of Medical Genetics, 2004
Genetic heterogeneity of KID syndrome: identification of a Cx30 gene (GJB6) mutation in a patient with KID syndrome and congenital atrichia.
Jan AY et al.
The Journal of Investigative Dermatology, 2004
Connexin30 (Gjb6)-deficiency causes severe hearing impairment and lack of endocochlear potential.
Teubner B et al.
Human Molecular Genetics, 2003
Functional studies of human skin disease- and deafness-associated connexin 30 mutations.
Common JE et al.
Biochemical and Biophysical Research Communications, 2002
Connexin mutations in hearing loss, dermatological and neurological disorders.
Rabionet R et al.
Trends in Molecular Medicine, 2002
Mutations in GJB6 cause hidrotic ectodermal dysplasia.
Lamartine J et al.
Nature Genetics, 2000
Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins.
Rabionet R et al.
Human Mutation, 2000
Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus.
Grifa A et al.
Nature Genetics, 1999