RUNX1-mutated families show phenotype heterogeneity and a somatic mutation profile unique to germline predisposed AML

Authors: Brown, Anna L. ^{*, *}, Arts, Peer ^*, Carmichael, Catherine L., Babic, Milena, Dobbins, Julia, Chong, Chan-Eng, Schreiber, Andreas W., Feng, Jinghua, Phillips, Kerry, Wang, Paul P.S., Ha, Thuong, Homan, Claire C., King-Smith, Sarah L., Rawlings, Lesley, Vakulin, Cassandra, Dubowsky, Andrew, Burdett, Jessica, Moore, Sarah, McKavanagh, Grace, Henry, Denae, Wells, Amanda, Mercorella, Belinda, Nicola, Mario, Suttle, Jeffrey, Wilkins, Ella, Li, Xiao-Chun, Michaud, Joelle ^*, Brautigan, Peter, Cannon, Ping, Altree, Meryl, Jaensch, Louise, Fine, Miriam, Butcher, Carolyn, D'Andrea, Richard J., Lewis, Ian D., Hiwase, Devendra K., Papaemmanuil, Elli, Horwitz, Marshall S., Natsoulis, Georges, Rienhoff, Hugh Y., Jr, Patton, Nigel, Mapp, Sally, Susman, Rachel, Morgan, Susan, Cooney, Julian, Currie, Mark, Popat, Uday, Bochtler, Tilmann, Izraeli, Shai, Bradstock, Kenneth, Godley, Lucy A., Krämer, Alwin, Fröhling, Stefan, Wei, Andrew H., Forsyth, Cecily, Mar Fan, Helen, Poplawski, Nicola K., Hahn, Christopher N. ^{*, *}, Scott, Hamish S. ^{*, *}

Source: In Blood Advances 24 March 2020 4(6):1131-1144

A pedigree with autosomal dominant thrombocytopenia, red cell macrocytosis, and an occurrence of t(12:21) positive pre-B acute lymphoblastic leukemia

Authors: Escher, Robert, Wilson, Peter, Carmichael, Catherine, Suppiah, Ram, Liu, Marjorie, Kavallaris, Maria, Cannon, Ping, Michaud, Joelle, Scott, Hamish S.

Source: In Blood Cells, Molecules and Diseases 2007 39(1):107-114

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

Authors: Michaud, Joëlle, Wu, Feng, Osato, Motomi, Cottles, Gregory M., Yanagida, Masatoshi, Asou, Norio, Shigesada, Katsuya, Ito, Yoshiaki, Benson, Kathleen F., Raskind, Wendy H., Rossier, Colette, Antonarakis, Stylianos E., Israels, Sara, McNicol, Archie, Weiss, Harvey, Horwitz, Marshall, Scott, Hamish S.

Source: In Blood 15 February 2002 99(4):1364-1372

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

Authors: Bartoloni, Lucia, Wattenhofer, Marie, Kudoh, Jun, Berry, Asher, Shibuya, Kazunori, Kawasaki, Kazuhiko, Wang, Jun, Asakawa, Shuichi, Talior, Ilana, Bonne-Tamir, Batsheva, Rossier, Colette, Michaud, Joelle, McCabe, Edward R.B., Minoshima, Shinsei, Shimizu, Nobuyoshi, Scott, Hamish S., Antonarakis, Stylianos E.

Source: In Genomics 1 December 2000 70(2):190-200

Isolation and Characterization of a Human Chromosome 21q22.3 Gene (WDR4) and Its Mouse Homologue That Code for a WD-Repeat Protein

Authors: Michaud, Joëlle, Kudoh, Jun, Berry, Asher, Bonne-Tamir, Batsheva, Lalioti, Maria D., Rossier, Colette, Shibuya, Kazunori, Kawasaki, Kazuhiko, Asakawa, Shuichi, Minoshima, Shinsei, Shimizu, Nobuyoshi, Antonarakis, Stylianos E., Scott, Hamish S. ¹

Source: In Genomics 15 August 2000 68(1):71-79

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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.

Authors: Wattenhofer, Marie, Shibuya, Kazunori, Kudoh, Jun, Lyle, Robert, Michaud, Joelle, Rossier, Colette, Kawasaki, Kazuhiko, Asakawa, Shuichi, Minoshima, Shinsei, Berry, Asher, Bonne-Tamir, Batsheva, Shimizu, Nobuyoshi, Antonarakis, Stylianos, Scott, Hamish

Source: Human Genetics; Feb2001, Vol. 108 Issue 2, p140-147, 8p

Subject Terms: DOWN syndrome, HUMAN chromosome 21, GENE expression, GENE mapping, PROTEIN-protein interactions, GENETIC mutation, DROSOPHILA melanogaster

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