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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1996 1
1997 2
1998 2
1999 1
2001 5
2002 4
2003 2
2004 3
2005 4
2007 2
2008 1
2011 3
2012 5
2013 6
2014 6
2015 9
2016 6
2017 7
2018 3
2019 3
2020 2
2021 6
2022 3
2023 9
2024 1

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PubMed for id: 322046

90 results

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Page 1
Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutations.
Weegerink NJ, Schraders M, Oostrik J, Huygen PL, Strom TM, Granneman S, Pennings RJ, Venselaar H, Hoefsloot LH, Elting M, Cremers CW, Admiraal RJ, Kremer H, Kunst HP. Weegerink NJ, et al. J Assoc Res Otolaryngol. 2011 Dec;12(6):753-66. doi: 10.1007/s10162-011-0282-3. Epub 2011 Jul 23. J Assoc Res Otolaryngol. 2011. PMID: 21786053 Free PMC article.
Tmprss3, a transmembrane serine protease deficient in human DFNB8/10 deafness, is critical for cochlear hair cell survival at the onset of hearing.
Fasquelle L, Scott HS, Lenoir M, Wang J, Rebillard G, Gaboyard S, Venteo S, François F, Mausset-Bonnefont AL, Antonarakis SE, Neidhart E, Chabbert C, Puel JL, Guipponi M, Delprat B. Fasquelle L, et al. J Biol Chem. 2011 May 13;286(19):17383-97. doi: 10.1074/jbc.M110.190652. Epub 2011 Mar 21. J Biol Chem. 2011. PMID: 21454591 Free PMC article.
The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro.
Guipponi M, Vuagniaux G, Wattenhofer M, Shibuya K, Vazquez M, Dougherty L, Scamuffa N, Guida E, Okui M, Rossier C, Hancock M, Buchet K, Reymond A, Hummler E, Marzella PL, Kudoh J, Shimizu N, Scott HS, Antonarakis SE, Rossier BC. Guipponi M, et al. Hum Mol Genet. 2002 Nov 1;11(23):2829-36. doi: 10.1093/hmg/11.23.2829. Hum Mol Genet. 2002. PMID: 12393794
90 results