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SAGE analysis of genes differentially expressed in presymptomatic TgSOD1G93A transgenic mice identified cellular processes involved in early stage of ALS pathology Guipponi, Michel; Li, Qiao-Xin; Hyde, Lavinia; Beissbarth, Tim; ... Scott, Hamish Steele 2010
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Thyroxine treatments do not correct inner ear defects in tmprss1 mutant mice Hanifa, Syazana; Scott, Hamish Steele; Crewther, Pauline; Guipponi, Michel; Tan, Justin 2010
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Aire-deficient C57BL/6 mice mimicking the common human 13-base pair deletion mutation present with only a mild autoimmune phenotype Hubert, F. X.; Kinkel, S. A.; Crewther, P. E.; Cannon, P. Z.; ... Scott, Hamish Steele 2009
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An integrated genetic and functional analysis of the role of type II transmembrane serine proteases (TMPRSSs) in hearing loss Guipponi, Michel; Toh, Min-Yen; Tan, Justin; Park, Daeho; ... Scott, Hamish Steele 2008
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Autoantigen-specific interactions with CD4+ thymocytes control mature medullary thymic epithelial cell cellularity Irla, Magali; Hugues, Stéphanie; Gill, Jason; Nitta, Takeshi; ... Reith, Walter 2008
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TMPRSS3, a type II transmembrane serine protease mutated in non-syndromic autosomal recessive deafness Guipponi, Michel; Antonarakis, Stylianos; Scott, Hamish Steele 2008
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Meiotic and epigenetic defects in Dnmt3L-knockout mouse spermatogenesis Webster, K. E.; O'Bryan, M. K.; Fletcher, Stephen; Crewther, P. E.; ... Scott, Hamish Steele 2005
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Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin Menzel, Olivier; Bekkeheien, R. C.; Reymond, Alexandre; Fukai, Naomi; ... Guipponi, Michel 2004
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The epilepsy, the protease inhibitor and the dodecamer: progressive myoclonus epilepsy, cystatin b and a 12-mer repeat expansion Lalioti, M. D.; Antonarakis, Stylianos; Scott, Hamish Steele 2003
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Identification of a novel member of the CLIC family, CLIC6, mapping to 21q22.12 Friedli, Marc; Guipponi, Michel; Bertrand, Sonia; Bertrand, Daniel; ... Reymond, Alexandre 2003
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The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro Guipponi, Michel; Vuagniaux, Gregoire; Wattenhofer, Marie; Shibuya, Kazunori; ... Rossier, B. C. 2002
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Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients Wattenhofer, Marie; Di Iorio, M. V.; Rabionet, Raquel; Dougherty, Loretta; ... Antonarakis, Stylianos 2002
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In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of pathogenesis Michaud, Joelle; Wu, Feng; Osato, Motomi; Cottles, G. M.; ... Scott, Hamish Steele 2002
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APECED mutations in the autoimmune regulator (AIRE) gene Heino, M.; Peterson, P.; Kudoh, J.; Shimizu, N.; ... Krohn, K. 2001
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Axonemal beta heavy chain dynein DNAH9: cDNA sequence, genomic structure, and investigation of its role in primary ciliary dyskinesia Bartoloni, Lucia; Blouin, Jean-Louis; Maiti, A. K.; Sainsbury, A.; ... Antonarakis, Stylianos 2001
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Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness Ben-Yosef, T.; Wattenhofer, M.; Riazuddin, S.; Ahmed, Z. M.; ... Morell, R. J. 2001
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A cSNP map and database for human chromosome 21 Deutsch, Samuel; Iseli, C.; Bucher, P.; Antonarakis, Stylianos; Scott, Hamish Steele 2001
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Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness Scott, Hamish Steele; Kudoh, J.; Wattenhofer, M.; Shibuya, K.; ... Antonarakis, Stylianos 2001
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Isolation and characterization of the UBASH3A gene on 21q22.3 encoding a potential nuclear protein with a novel combination of domains Wattenhofer, M.; Shibuya, K.; Kudoh, J.; Lyle, Robert; ... Scott, Hamish Steele 2001
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Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness Masmoudi, S.; Antonarakis, Stylianos; Schwede, T.; Ghorbel, A. M.; ... Guipponi, Michel 2001
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