Results 191 to 200 of about 2,702,233 (230)

Connexin-30 Deletion Analysis in Connexin-26 Heterozygotes

Genetic Testing, 2003
Mutations in the Connexin-26 gene (Cx 26, GJB2) are the most common cause of hereditary nonsyndromic sensorineural hearing loss (SNHL). DNA analysis of the Cx 26 gene in deaf or hard-of-hearing individuals frequently demonstrates heterozygosity despite the fact that most mutations are known to be recessive. A 342-kb deletion in a gene adjacent to Cx 26,
Victoria A, Stevenson, Masamichi, Ito, Jeff M, Milunsky   +2 more
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The M34T Allele Variant of Connexin 26

Genetic Testing, 2000
GJB2 encodes the protein Connexin 26, one of the building blocks of gap junctions. Each Connexin 26 molecule can oligomerize with five other connexins to form a connexon; two connexons, in turn, can form a gap junction. Because mutations in GJB2 are the most common cause of congenital severe-to-profound autosomal recessive nonsyndromic hearing loss ...
Cucci, R.A., Prasad, S., Kelley, P., Green, G.E., Storm, K., Willockx, S., Cohn, E.S., Van Camp, G., Smith, R.J.H.   +8 more
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Expression of connexin 26 and connexin 43 is reduced in Hirschsprung's disease

Journal of Surgical Research, 2016
Despite having an optimal pull-through operation, some children with Hirschsprung's disease (HSCR) continue to experience persistent bowel symptoms. Coordinated colonic electrical activity depends on intercellular communication between the enteric nerves, interstitial cells of Cajal (ICCs), smooth muscle cells, and fibroblast-like (platelet-derived ...
David Coyle, Brian Doyle, Justin M. Murphy, Anne Marie O'Donnell, John Gillick, Prem Puri   +5 more
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Connexin 26 and Connexin 30 Mutations in Children with Nonsyndromic Hearing Loss

The Laryngoscope, 2004
AbstractObjectives/Hypothesis Mutations in the connexin 26 (Cx26) or gap junction beta 2 gene are the leading cause of hereditary nonsyndromic sensorineural hearing loss in Caucasians. The Cx26 coding region of 68 children with nonsyndromic sensorineural hearing loss was sequenced to determine the frequency and type of Cx26 mutations in this population.
Christy B, Erbe, Kevin C, Harris, Christina L, Runge-Samuelson, Valerie A, Flanary, Phillip Ashley, Wackym   +4 more
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Expression pattern of Connexin 26 and Connexin 30 in mature cochlea of the monkey

Biochemical and Biophysical Research Communications, 2019
Connexin26 (Cx26) and Cx30 are the predominant connexin subtypes found in the cochlea. They play an essential role in the cochlear functions. However, most studies use mice and the data on the cochlear expression profiles of the two Cxs in higher animals (e.g., humans) are scarce.
Xuewen Wu, Wenxue Tang, Emil C. Muly, Li Zhang, Xi Lin   +4 more
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Connexin 26 gene linked to a dominant deafness

Nature, 1998
A high proportion of all cases of congenital deafness is causedby mutations in a gene coding for a gap-junction protein,connexin 26. The deafness associated with this gene, Cx26, is the autosomal recessive form, DFNB1(refs 1–3); its involvement in autosomal dominant forms of deafness has remained controversial4.
Denoyelle, Françoise, Lina-Granade, Genevieve, Plauchu, Henri, Bruzzone, Roberto, Chaïb, Hassan, Levi-Acobas, Fabienne, Weil, Dominique, Petit, Christine   +7 more
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Connexin-26 mutations in deafness and skin disease

Expert Reviews in Molecular Medicine, 2009
Gap junctions allow the exchange of ions and small molecules between adjacent cells through intercellular channels formed by connexin proteins, which can also form functional hemichannels in nonjunctional membranes. Mutations in connexin genes cause a variety of human diseases.
Jack R, Lee, Thomas W, White
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Audiological Features of GJB2 (Connexin 26) Deafness

Ear and Hearing, 2005
The aim of the present study was to characterize audiological profiles in patients with GJB2 deafnessWe screened DNA from 399 individuals with nonsyndromic deafness for mutations in the connexin 26 gene (GJB2) by sequence analysis. A total of 77 (19%) of these deaf individuals were biallelic GJB2 mutations (either homozygous or compound heterozygous ...
Xue Zhong, Liu, Arti, Pandya, Simon, Angeli, Fred F, Telischi, Kathleen S, Arnos, Walter E, Nance, Thomas, Balkany   +6 more
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Cochlear Implant in Hypoacusis With Alteration of Connexin 26

Acta Otorrinolaringologica (English Edition), 2007
The objective of this paper is to assess the benefits of cochlear implantation in a population of profound prelingual congenital deaf children with mutation of Connexin 26 (DFNB1 phenotype), compared with a population of profound congenital deaf children without mutation of this gene.This retrospective study was carried out in 36 children with cochlear
Angel, Ramos, Carina, Rodríguez, Silvia, Borkoski, José M, Cuyás, Juan C, Falcón, Luis, Goenaga, Elisabeth, Masgoret   +6 more
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Connexin 26 is Abnormally Expressed in Bladder Cancer

Journal of Urology, 2003
Connexin 26 is the major gap junction protein in urothelial and mammary epithelial cells, and a putative tumor suppressor gene. We evaluated connexin 26 expression in normal urothelium and in bladder cancer.A total of 40 formalin fixed, paraffin embedded bladder tumors and 5 normal urothelial specimens were analyzed by immunohistochemistry.
Jason, Gee, Motoyoshi, Tanaka, H Barton, Grossman   +2 more
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