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Refined localization of autosomal recessive nonsyndromic deafness DFNB10 locus using 34 novel microsatellite markers, genomic structure, and exclusion of six known genes in the region.
Berry A, Scott HS, Kudoh J, Talior I, Korostishevsky M, Wattenhofer M, Guipponi M, Barras C, Rossier C, Shibuya K, Wang J, Kawasaki K, Asakawa S, Minoshima S, Shimizu N, Antonarakis S, Bonné-Tamir B. Berry A, et al. Genomics. 2000 Aug 15;68(1):22-9. doi: 10.1006/geno.2000.6253. Genomics. 2000. PMID: 10950923
Nineteen additional unpredicted transcripts from human chromosome 21.
Reymond A, Camargo AA, Deutsch S, Stevenson BJ, Parmigiani RB, Ucla C, Bettoni F, Rossier C, Lyle R, Guipponi M, de Souza S, Iseli C, Jongeneel CV, Bucher P, Simpson AJ, Antonarakis SE. Reymond A, et al. Among authors: antonarakis se. Genomics. 2002 Jun;79(6):824-32. doi: 10.1006/geno.2002.6781. Genomics. 2002. PMID: 12036297
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. Among authors: antonarakis se. Hum Mol Genet. 2002 Nov 1;11(23):2829-36. doi: 10.1093/hmg/11.23.2829. Hum Mol Genet. 2002. PMID: 12393794
Human chromosome 21 gene expression atlas in the mouse.
Reymond A, Marigo V, Yaylaoglu MB, Leoni A, Ucla C, Scamuffa N, Caccioppoli C, Dermitzakis ET, Lyle R, Banfi S, Eichele G, Antonarakis SE, Ballabio A. Reymond A, et al. Among authors: antonarakis se. Nature. 2002 Dec 5;420(6915):582-6. doi: 10.1038/nature01178. Nature. 2002. PMID: 12466854
661 results