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 TitleAuthors / EditorsDate
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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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APECED mutations in the autoimmune regulator (AIRE) gene Heino, M.; Peterson, P.; Kudoh, J.; Shimizu, N.; ... Krohn, K. 2001
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C21orf5, a novel human chromosome 21 gene, has a Caenorhabditis elegans ortholog (pad-1) required for embryonic patterning Guipponi, Michel; Brunschwig, K.; Chamoun, Z.; Scott, Hamish Steele; ... Antonarakis, Stylianos 2000
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RNA and protein expression of the murine autoimmune regulator gene (Aire) in normal, RelB-deficient and in NOD mouse Heino, M.; Peterson, P.; Sillanpaa, N.; Guerin, S.; ... Krohn, K. J. 2000
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Isolation and characterization of a human chromosome 21q22.3 gene (WDR4) and its mouse homologue that code for a WD-repeat protein Michaud, J.; Kudoh, J.; Berry, A.; Bonne-Tamir, B.; ... Scott, Hamish Steele 2000
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The autoimmune regulator protein has transcriptional transactivating properties and interacts with the common coactivator CREB-binding protein Pitkanen, J.; Doucas, V.; Sternsdorf, T.; Nakajima, T.; ... Peterson, P. 2000
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Isolation and initial characterization of a novel zinc finger gene, DNMT3L, on 21q22.3, related to the cytosine-5-methyltransferase 3 gene family Aapola, Ulla; Kawasaki, K.; Scott, Hamish Steele; Ollila, J.; ... Peterson, P. 2000
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Cloning and characterization of a putative human glycerol 3-phosphate permease gene (SLC37A1 or G3PP) on 21q22.3: mutation analysis in two candidate phenotypes, DFNB10 and a glycerol kinase deficiency Bartoloni, Lucia; Wattenhofer, M.; Kudoh, J.; Berry, A.; ... Antonarakis, Stylianos 2000
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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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Autoimmune regulator is expressed in the cells regulating immune tolerance in thymus medulla Heino, M.; Peterson, P.; Kudoh, J.; Nagamine, K.; ... Krohn, K. 1999
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Mutation analyses of North American APS-1 patients Heino, M.; Scott, Hamish Steele; Chen, Q.; Peterson, P.; ... Krohn, K. 1999
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Isolation and characterization of the mouse Aire gene Mittaz, L.; Rossier, Colette; Heino, M.; Peterson, P.; ... Scott, Hamish Steele 1999
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Common mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients of different origins Scott, Hamish Steele; Heino, M.; Peterson, P.; Mittaz, L.; ... Antonarakis, Stylianos 1998
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Identification and characterization of a novel cyclic nucleotide phosphodiesterase gene (PDE9A) that maps to 21q22.3: alternative splicing of mRNA transcripts, genomic structure and sequence Guipponi, Michel; Scott, Hamish Steele; Kudoh, J.; Kawasaki, K.; ... Antonarakis, Stylianos 1998
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APECED: a monogenic autoimmune disease providing new clues to self-tolerance Peterson, P.; Nagamine, K.; Scott, Hamish Steele; Heino, M.; ... Krohn, K. J. 1998
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A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients Rosatelli, M. C.; Meloni, A.; Devoto, M.; Cao, A.; ... Antonarakis, Stylianos 1998
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Positional cloning of the APECED gene Nagamine, K.; Peterson, P.; Scott, Hamish Steele; Kudoh, J.; ... Shimizu, N. 1997
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Cloning of two human homologs of the Drosophila single-minded gene SIM1 on chromosome 6q and SIM2 on 21q within the Down syndrome chromosomal region Chrast, R.; Scott, Hamish Steele; Chen, H.; Kudoh, J.; ... Antonarakis, Stylianos 1997