 Connexin 26
"Connexin 26" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
A gap junction protein encoded by the Gap Junction Beta 2 or GJB2 gene. In the cochlea and epidermis, its hexamers form channels between cells that open to allow cell-to-cell diffusion of small molecules as well as recycling of potassium. Mutations in Connexin 26 are associated with congenital SENSORINEURAL HEARING LOSS.
| Descriptor ID |
D000072259
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| MeSH Number(s) |
D12.776.543.585.250.100
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| Concept/Terms |
Connexin 26- Connexin 26
- 26, Connexin
- beta2 Connexin
- Connexin, beta2
- Connexin beta-2
- Connexin beta 2
- beta-2, Connexin
- Connexin Cx26
- Cx26, Connexin
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Below are MeSH descriptors whose meaning is more general than "Connexin 26".
Below are MeSH descriptors whose meaning is more specific than "Connexin 26".
This graph shows the total number of publications written about "Connexin 26" by people in this website by year, and whether "Connexin 26" was a major or minor topic of these publications.
To see the data from this visualization as text, click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2003 | 0 | 1 | 1 | | 2005 | 0 | 4 | 4 | | 2007 | 0 | 1 | 1 | | 2014 | 0 | 1 | 1 |
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Below are the most recent publications written about "Connexin 26" by people in Profiles.
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Rehman AU, Santos-Cortez RL, Drummond MC, Shahzad M, Lee K, Morell RJ, Ansar M, Jan A, Wang X, Aziz A, Riazuddin S, Smith JD, Wang GT, Ahmed ZM, Gul K, Shearer AE, Smith RJ, Shendure J, Bamshad MJ, Nickerson DA, Hinnant J, Khan SN, Fisher RA, Ahmad W, Friderici KH, Riazuddin S, Friedman TB, Wilch ES, Leal SM. Challenges and solutions for gene identification in the presence of familial locus heterogeneity. Eur J Hum Genet. 2015 Sep; 23(9):1207-15.
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Bartholin L, Melhuish TA, Powers SE, Goddard-L?on S, Treilleux I, Sutherland AE, Wotton D. Maternal Tgif is required for vascularization of the embryonic placenta. Dev Biol. 2008 Jul 15; 319(2):285-97.
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Putcha GV, Bejjani BA, Bleoo S, Booker JK, Carey JC, Carson N, Das S, Dempsey MA, Gastier-Foster JM, Greinwald JH, Hoffmann ML, Jeng LJ, Kenna MA, Khababa I, Lilley M, Mao R, Muralidharan K, Otani IM, Rehm HL, Schaefer F, Seltzer WK, Spector EB, Springer MA, Weck KE, Wenstrup RJ, Withrow S, Wu BL, Zariwala MA, Schrijver I. A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort. Genet Med. 2007 Jul; 9(7):413-26.
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Santos RL, El-Shanti H, Sikandar S, Lee K, Bhatti A, Yan K, Chahrour MH, McArthur N, Pham TL, Mahasneh AA, Ahmad W, Leal SM. Novel sequence variants in the TMIE gene in families with autosomal recessive nonsyndromic hearing impairment. J Mol Med (Berl). 2006 Mar; 84(3):226-31.
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Santos RL, Wajid M, Khan MN, McArthur N, Pham TL, Bhatti A, Lee K, Irshad S, Mir A, Yan K, Chahrour MH, Ansar M, Ahmad W, Leal SM. Novel sequence variants in the TMC1 gene in Pakistani families with autosomal recessive hearing impairment. Hum Mutat. 2005 Oct; 26(4):396.
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Santos RL, Aulchenko YS, Huygen PL, van der Donk KP, de Wijs IJ, Kemperman MH, Admiraal RJ, Kremer H, Hoefsloot LH, Cremers CW. Hearing impairment in Dutch patients with connexin 26 (GJB2) and connexin 30 (GJB6) mutations. Int J Pediatr Otorhinolaryngol. 2005 Feb; 69(2):165-74.
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Santos RL, Wajid M, Pham TL, Hussan J, Ali G, Ahmad W, Leal SM. Low prevalence of Connexin 26 (GJB2) variants in Pakistani families with autosomal recessive non-syndromic hearing impairment. Clin Genet. 2005 Jan; 67(1):61-8.
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Brown CW, Levy ML, Flaitz CM, Reid BS, Manolidis S, Hebert AA, Bender MM, Heilstedt HA, Plunkett KS, Fang P, Roa BB, Chung P, Tang HY, Richard G, Alford RL. A novel GJB2 (connexin 26) mutation, F142L, in a patient with unusual mucocutaneous findings and deafness. J Invest Dermatol. 2003 Nov; 121(5):1221-3.
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Fishman GI, Moreno AP, Spray DC, Leinwand LA. Functional analysis of human cardiac gap junction channel mutants. Proc Natl Acad Sci U S A. 1991 May 01; 88(9):3525-9.
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