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Year | Number of Results |
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2003 | 1 |
2010 | 1 |
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The Clouston syndrome mutation connexin30 A88V leads to hyperproliferation of sebaceous glands and hearing impairments in mice.
FEBS Lett. 2014 May 2;588(9):1795-801. doi: 10.1016/j.febslet.2014.03.040. Epub 2014 Mar 29.
FEBS Lett. 2014.
PMID: 24685692
Free article.
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, Scimemi P, Majumder P, De Siati RD, Crispino G, Rodriguez L, Bortolozzi M, Santarelli R, Seydel A, Sonntag S, Ingham N, Steel KP, Willecke K, Mammano F.
Schütz M, et al.
Hum Mol Genet. 2010 Dec 15;19(24):4759-73. doi: 10.1093/hmg/ddq402. Epub 2010 Sep 21.
Hum Mol Genet. 2010.
PMID: 20858605
Free PMC article.
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Connexin30 (Gjb6)-deficiency causes severe hearing impairment and lack of endocochlear potential.
Teubner B, Michel V, Pesch J, Lautermann J, Cohen-Salmon M, Söhl G, Jahnke K, Winterhager E, Herberhold C, Hardelin JP, Petit C, Willecke K.
Teubner B, et al.
Hum Mol Genet. 2003 Jan 1;12(1):13-21. doi: 10.1093/hmg/ddg001.
Hum Mol Genet. 2003.
PMID: 12490528
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Hearing is normal without connexin30.
Boulay AC, del Castillo FJ, Giraudet F, Hamard G, Giaume C, Petit C, Avan P, Cohen-Salmon M.
Boulay AC, et al.
J Neurosci. 2013 Jan 9;33(2):430-4. doi: 10.1523/JNEUROSCI.4240-12.2013.
J Neurosci. 2013.
PMID: 23303923
Free PMC article.
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