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Two isoforms of a human intersectin (ITSN) protein are produced by brain-specific alternative splicing in a stop codon Guipponi, Michel; Scott, Hamish Steele; Chen, H.; Schebesta, A.; ... Antonarakis, Stylianos 1998
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TNPO3 protects HIV-1 replication from CPSF6-mediated capsid stabilization in the host cell cytoplasm De Iaco, Alberto; Santoni, Federico; Vannier, Anne; Guipponi, Michel; ... Luban, Jeremy 2013
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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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Tmprss3, a transmembrane serine protease deficient in human DFNB8/10 deafness, is critical for cochlear hair cell survival at the onset of hearing Fasquelle, Lydie; Scott, Hamish S; Lenoir, Marc; Wang, Jing; ... Delprat, Benjamin 2011
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Tissue-specific effects of genetic and epigenetic variation on gene regulation and splicing Gutierrez Arcelus, Maria; Ongen, Halit; Lappalainen, Tuuli Emilia; Montgomery, Stephen; ... Dermitzakis, Emmanouil 2015
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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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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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The murine orthologue of the Golgi-localized TPTE protein provides clues to the evolutionary history of the human TPTE gene family Guipponi, Michel; Tapparel, Caroline; Jousson, Olivier; Scamuffa, N.; ... Antonarakis, Stylianos 2001
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The Caenorhabditis elegans ortholog of C21orf80, a potential new protein O-fucosyltransferase, is required for normal development Menzel, Olivier; Vellai, Tibor; Takacs-Vellai, Krisztina; Reymond, Alexandre; ... Guipponi, Michel 2004
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Structure of the human Lanosterol synthase gene and its analysis as a candidate for holoprosencephaly (HPE1) Roessler, E.; Mittaz, L.; Du, Y.; Scott, Hamish Steele; ... Antonarakis, Stylianos 1999
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Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster Santoni, Federico; Makrythanasis, Periklis; Nikolaev, Sergey Igorievich; Guipponi, Michel; ... Antonarakis, Stylianos 2014
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Simultaneous analysis of serotonin transporter, tryptophan hydroxylase 1 and 2 gene expression in the ventral prefrontal cortex of suicide victims Perroud, Nader Ali; Neidhart, Elizabeth; Petit, Brice; Vessaz, Monique; ... Guipponi, Michel 2010
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SERPINI1 pathogenic variants: An emerging cause of childhood-onset progressive myoclonic epilepsy Ranza, Emmanuelle Nathalie; Garcia-Tarodo, Stéphanie; Varvagiannis, Konstantinos; Guipponi, Michel; ... Korff, Christian 2017
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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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Role of Type II Transmembrane Serine Proteases in Hearing Loss Guipponi, Michel 2011
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Role of the pleckstrin homology domain in intersectin-L Dbl homology domain activation of Cdc42 and signaling Pruitt, W. M.; Karnoub, A. E.; Rakauskas, A. C.; Guipponi, Michel; ... Der, C. J. 2003
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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, Hamish Steele; Kudoh, J.; Talior, I.; ... Bonne-Tamir, B. 2000
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Perturbations of heart development and function in cardiomyocytes from human embryonic stem cells with trisomy 21 Bosman, Alexis; Letourneau, Audrey; Sartiani, Laura; Del Lungo, Martina; ... Jaconi, Marisa 2015
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Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia Makrythanasis, Periklis; Kato, Mitsuhiro; Zaki, Maha S; Saitsu, Hirotomo; ... Murakami, Yoshiko 2016
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Passive and active DNA methylation and the interplay with genetic variation in gene regulation Gutierrez Arcelus, Maria; Lappalainen, Tuuli Emilia; Montgomery, Stephen; Buil Demur, Alfonso Alberto; ... Dermitzakis, Emmanouil 2013
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