| Title | Authors / Editors | Date |
unige:9095 |
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 |
unige:8798 |
APECED mutations in the autoimmune regulator (AIRE) gene |
Heino, M.; Peterson, P.; Kudoh, J.; Shimizu, N.; ... Krohn, K. |
2001 |
unige:8638 |
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 |
unige:9029 |
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 |
unige:8593 |
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 |
unige:8627 |
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 |
unige:8639 |
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 |
unige:8771 |
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 |
unige:8799 |
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 |
unige:8899 |
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 |
unige:8968 |
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 |
unige:8797 |
Autoimmune regulator is expressed in the cells regulating immune tolerance in thymus medulla |
Heino, M.; Peterson, P.; Kudoh, J.; Nagamine, K.; ... Krohn, K. |
1999 |
unige:8800 |
Mutation analyses of North American APS-1 patients |
Heino, M.; Scott, Hamish Steele; Chen, Q.; Peterson, P.; ... Krohn, K. |
1999 |
unige:8905 |
Isolation and characterization of the mouse Aire gene |
Mittaz, L.; Rossier, Colette; Heino, M.; Peterson, P.; ... Scott, Hamish Steele |
1999 |
unige:8774 |
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 |
unige:8964 |
APECED: a monogenic autoimmune disease providing new clues to self-tolerance |
Peterson, P.; Nagamine, K.; Scott, Hamish Steele; Heino, M.; ... Krohn, K. J. |
1998 |
unige:9001 |
A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients |
Rosatelli, M. C.; Meloni, A.; Devoto, M.; Cao, A.; ... Antonarakis, Stylianos |
1998 |
unige:9028 |
Common mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients of different origins |
Scott, Hamish Steele; Heino, M.; Peterson, P.; Mittaz, L.; ... Antonarakis, Stylianos |
1998 |
unige:8686 |
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 |
unige:8918 |
Positional cloning of the APECED gene |
Nagamine, K.; Peterson, P.; Scott, Hamish Steele; Kudoh, J.; ... Shimizu, N. |
1997 |