Results 71 to 80 of about 854 (148)

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

Neurobiology of Disease, 2017
Digenic Connexin26 (Cx26, GJB2) and Cx30 (GJB6) heterozygous mutations are the second most frequent cause of recessive deafness in humans. However, the underlying deafness mechanism remains unclear.
Ling Mei, Jin Chen, Liang Zong, Yan Zhu, Chun Liang, Raleigh O. Jones, Hong-Bo Zhao   +6 more
doaj   +1 more source

Altered CO2 sensitivity of connexin26 mutant hemichannels in vitro [PDF]

, 2016
Connexin26 (Cx26) mutations underlie human pathologies ranging from hearing loss to keratitis ichthyosis deafness (KID) syndrome. Cx26 hemichannels are directly gated by CO2 and contribute to the chemosensory regulation of breathing.
van de Wiel, Joseph, Cook, Jonathan, Dale, Nicholas, de Wolf, Elizabeth   +3 more
core  

Properties of connexin26 gap junctional proteins derived from mutations associated with non-syndromal heriditary deafness

, 1999
Three point mutations of the connexin26 (GJB2) gene associated with hereditary deafness were studied using in vitro expression systems. Mutation M34T results in an amino acid substitution in the first transmembrane domain of the connexin protein, W77R is
Martin, Patricia E. M., Evans, W. Howard, Coleman, Sharon Louise, Casalotti, Stefano O., Forge, Andy   +4 more
core   +1 more source

Altered cellular localization and hemichannel activities of KID syndrome associated connexin26 I30N and D50Y mutations [PDF]

, 2016
Background: Gap junctions facilitate exchange of small molecules between adjacent cells, serving a crucial function for the maintenance of cellular homeostasis.
Aypek, Hande, Gülistan Meşe, Hande Aypek (3474551), Hande Aypek, Bay, Veysel, Veysel Bay (3474554), Veysel Bay, Meşe, Gülistan, GĂźlistan Meşe (3474557)   +8 more
core   +1 more source

M34T-Missense-Mutationen bei Connexin26-bedingter Schwerhörigkeit

, 2006
Mutationen im GJB2-Gen (Connexin26) sind eine der häufigsten Ursachen non-syndromaler Hörstörungen. Zur Abklärung einer Connexin26-bedingten Schwerhörigkeit gehört die molekulargenetische Analyse des Connexin26-Gens mittlerweile zum klinischen Standard ...
Spormann-Lagodzinski, ME, Rosenfeld, J, Bohlender, J, Gross, M   +3 more
core  

INTRA-GOLGI CONNEXIN26 BEHAVES IN A PRO-ONCOGENIC MANNER IN HEAD AND NECK CANCER CELLS [PDF]

Downregulation of gap junctional intercellular communication is an important hallmark of malignant tumours. One of the downregulation mechanisms is translocation of gap junction (GJ) protein called connexin from cell membrane into cytoplasm, nucleus, or ...
IIKAWA, Nobuko, YAMAMOTO, Yohei, ISHIKAWA, Kazuo, KAWASAKI, Yohei, OMORI, Yasufumi, ENOMOTO, Katsuhiko, YOSHIOKA, Toshiaki, NISHIJIMA, Aki   +7 more
core   +2 more sources

Targeted Ablation of Connexin26 in the Inner Ear Epithelial Gap Junction Network Causes Hearing Impairment and Cell Death [PDF]

, 2002
Mutations in the gene encoding the gap junction protein connexin26 (Cx26) are responsible for the autosomal recessive isolated deafness, DFNB1, which accounts for half of the cases of prelingual profound hereditary deafness in Caucasian populations [1–5].
Wu, Tao, Eybalin, Michel, Perfettini, Isabelle, Willecke, Klaus, Petit, Christine, Cohen-Salmon, Martine, Marcus, Daniel C., Michel, Vincent, Ott, Thomas, Wangemann, Philine, Hardelin, Jean-Pierre   +10 more
core   +1 more source

The connexin26 S17F mouse mutant represents a model for the human hereditary keratitis-ichthyosis-deafness syndrome

, 2010
Mutations in the GJB2 gene coding for connexin26 (Cx26) can cause a variety of deafness and hereditary hyperproliferative skin disorders in humans. In this study, we investigated the Cx26S17F mutation in mice, which had been identified to cause the ...
T. Auth, Schuetz, Melanie, Bosen, Felicitas, Gehrt, Anna, Auth, Tanja, K. Willecke, A. Gehrt, I. Korber, N. Strenzke, Willecke, Klaus, F. Bosen, T. Moser, Strenzke, Nicola, M. Schutz, Koerber, Inken, Moser, Tobias   +15 more
core   +1 more source

A phenotype resembling the Clouston syndrome with deafness is associated with a novel missense GJB2 mutation. [PDF]

, 2004
Contains fulltext : 57105.pdf (Publisher’s version ) (Closed access)Mutations in GJB2 (connexin26) are associated with skin disorders and deafness.
Steijlen, P.M., Hoefsloot, L.H., Ravenswaaij-Arts, C.M.A. van, Hoefsloot, Elisabeth H., van Ravenswaaij-Arts, Connie M., Steijlen, Peter M., Bladergroen, Reno S., van Geel, Michel, Bladergroen, R., Steensel, M.A.M. van, Geel, M. van, van Steensel, Maurice A.M.   +11 more
core   +2 more sources

Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans.

, 1997
Non-syndromic neurosensory autosomal recessive deafness (NSRD) is the most common form of genetic hearing loss. Previous studies defined at least 15 human NSRD loci.
M. Shohat, E. Mansfield, J. Lutfi, L. Zelante, L. D'Agruma, X. Estivill, FORTINA, PAOLO, Monica Md, K. Delgrosso, S. Surrey, P. Gasparini, E. Rappaport, M. Mila, N. Govea, S. Melchionda   +14 more
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