Search Results - "SZPURKA, Hadrian"

SF3B1 haploinsufficiency leads to formation of ring sideroblasts in myelodysplastic syndromes by Visconte, Valeria, Rogers, Heesun J., Singh, Jarnail, Barnard, John, Bupathi, Manoj, Traina, Fabiola, McMahon, James, Makishima, Hideki, Szpurka, Hadrian, Jankowska, Anna, Jerez, Andres, Sekeres, Mikkael A., Saunthararajah, Yogen, Advani, Anjali S., Copelan, Edward, Koseki, Haruhiko, Isono, Kyoichi, Padgett, Richard A., Osman, Sami, Koide, Kazunori, O'Keefe, Christine, Maciejewski, Jaroslaw P., Tiu, Ramon V.

“…Whole exome/genome sequencing has been fundamental in the identification of somatic mutations in the spliceosome machinery in myelodysplastic syndromes (MDSs)…”
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250K Single Nucleotide Polymorphism Array Karyotyping Identifies Acquired Uniparental Disomy and Homozygous Mutations, Including Novel Missense Substitutions of c-Cbl, in Myeloid Malignancies by DUNBAR, Andrew J, GONDEK, Lukasz P, O'KEEFE, Christine L, MAKISHIMA, Hideki, RATAUL, Manjot S, SZPURKA, Hadrian, SEKERES, Mikkael A, XIAO FEI WANG, MCDEVITT, Michael A, MACIEJEWSKI, Jaroslaw P

“…Two types of acquired loss of heterozygosity are possible in cancer: deletions and copy-neutral uniparental disomy (UPD). Conventionally, copy number losses…”
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CBL, CBLB, TET2, ASXL1, and IDH1/2 mutations and additional chromosomal aberrations constitute molecular events in chronic myelogenous leukemia by Makishima, Hideki, Jankowska, Anna M., McDevitt, Michael A., O'Keefe, Christine, Dujardin, Simon, Cazzolli, Heather, Przychodzen, Bartlomiej, Prince, Courtney, Nicoll, John, Siddaiah, Harish, Shaik, Mohammed, Szpurka, Hadrian, Hsi, Eric, Advani, Anjali, Paquette, Ronald, Maciejewski, Jaroslaw P.

“…Progression of chronic myelogenous leukemia (CML) to accelerated (AP) and blast phase (BP) is because of secondary molecular events, as well as additional…”
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Mutations of E3 Ubiquitin Ligase Cbl Family Members Constitute a Novel Common Pathogenic Lesion in Myeloid Malignancies by Makishima, Hideki, Cazzolli, Heather, Szpurka, Hadrian, Dunbar, Andrew, Tiu, Ramon, Huh, Jungwon, Muramatsu, Hideki, O'Keefe, Christine, Hsi, Eric, Paquette, Ronald L, Kojima, Seiji, List, Alan F, Sekeres, Mikkael A, McDevitt, Michael A, Maciejewski, Jaroslaw P

“…Acquired somatic uniparental disomy (UPD) is commonly observed in myelodysplastic syndromes (MDS), myelodysplastic/myeloproliferative neoplasms (MDS/MPN), or…”
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SNP array karyotyping allows for the detection of uniparental disomy and cryptic chromosomal abnormalities in MDS/MPD-U and MPD by Gondek, Lukasz P, Dunbar, Andrew J, Szpurka, Hadrian, McDevitt, Michael A, Maciejewski, Jaroslaw P

“…We applied single nucleotide polymorphism arrays (SNP-A) to study karyotypic abnormalities in patients with atypical myeloproliferative syndromes (MPD),…”
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Loss of expression of neutrophil proteinase-3: a factor contributing to thrombotic risk in paroxysmal nocturnal hemoglobinuria by JANKOWSKA, Anna M, SZPURKA, Hadrian, CALABRO, Mark, MOHAN, Sanjay, SCHADE, Andrew E, CLEMENTE, Michael, SILVERSTEIN, Roy L, MACIEJEWSKI, Jaroslaw P

“…A deficiency of specific glycosylphosphatidyl inositol-anchored proteins in paroxysmal nocturnal hemoglobinuria may be responsible for most of the clinical…”
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Altered lipid raft composition and defective cell death signal transduction in glycosylphosphatidylinositol anchor‐deficient PIG‐A mutant cells by Szpurka, Hadrian, Schade, Andrew E., Jankowska, Anna M., Maciejewski, Jaroslaw P.

“…Summary Paroxysmal nocturnal haemoglobinuria (PNH) is a clonal disorder of haematopoietic stem cells caused by somatic PIGA mutations, resulting in a…”
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Impact of Molecular Mutations on Treatment Response to Hypomethylating Agents in MDS by Traina, Fabiola, Jankowska, Anna M, Visconte, Valeria, Sugimoto, Yuka, Szpurka, Hadrian, Makishima, Hideki, Jerez, Andres, O'Keefe, Christine L., Sekeres, Mikkael A., Advani, Anjali S., Saunthararajah, Yogen, Kalaycio, Matt, Copelan, Edward A., Saad, Sara T. Olalla, Maciejewski, Jaroslaw P, Tiu, Ramon V.

“…Abstract 461 Aberrant DNA methylation is a hallmark of myelodysplastic syndromes (MDS), MDS/myeloproliferative neoplasms (MDS/MPN) and secondary acute myeloid…”
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Cytogenetic and molecular predictors of response in patients with myeloid malignancies without del[5q] treated with lenalidomide by Sugimoto, Yuka, Sekeres, Mikkael A, Makishima, Hideki, Traina, Fabiola, Visconte, Valeria, Jankowska, Anna, Jerez, Andres, Szpurka, Hadrian, O'Keefe, Christine L, Guinta, Kathryn, Afable, Manuel, Tiu, Ramon, McGraw, Kathy L, List, Alan F, Maciejewski, Jaroslaw

“…While lenalidomide (LEN) shows high efficacy in myelodysplastic syndromes (MDS) with del[5q], responses can be also seen in patients presenting without…”
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Phospho-STAT5 expression pattern with the MPL W515L mutation is similar to that seen in chronic myeloproliferative disorders with JAK2 V617F by Gibson, Sarah E., MD, Schade, Andrew E., MD, PhD, Szpurka, Hadrian, MSc, Bak, Beata, Maciejewski, Jaroslaw P., MD, PhD, Hsi, Eric D., MD

“…Summary Abnormal nuclear megakaryocytic staining for phospho-STAT5 (pSTAT5) correlates with JAK2 V617F mutational status in non-chronic myelogenous leukemia…”
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Loss of heterozygosity 4q24 and TET2 mutations associated with myelodysplastic/myeloproliferative neoplasms by Jankowska, Anna M., Szpurka, Hadrian, Tiu, Ramon V., Makishima, Hideki, Afable, Manuel, Huh, Jungwon, O'Keefe, Christine L., Ganetzky, Rebecca, McDevitt, Michael A., Maciejewski, Jaroslaw P.

“…Chromosomal abnormalities are frequent in myeloid malignancies, but in most cases of myelodysplasia (MDS) and myeloproliferative neoplasms (MPN), underlying…”
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Mutational spectrum analysis of chronic myelomonocytic leukemia includes genes associated with epigenetic regulation: UTX, EZH2, and DNMT3A by Jankowska, Anna M., Makishima, Hideki, Tiu, Ramon V., Szpurka, Hadrian, Huang, Yun, Traina, Fabiola, Visconte, Valeria, Sugimoto, Yuka, Prince, Courtney, O'Keefe, Christine, Hsi, Eric D., List, Alan, Sekeres, Mikkael A., Rao, Anjana, McDevitt, Michael A., Maciejewski, Jaroslaw P.

“…Chronic myelomonocytic leukemia (CMML), a myelodysplastic/myeloproliferative neoplasm, is characterized by monocytic proliferation, dysplasia, and progression…”
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Dasatinib, a small-molecule protein tyrosine kinase inhibitor, inhibits T-cell activation and proliferation by Schade, Andrew E., Schieven, Gary L., Townsend, Robert, Jankowska, Anna M., Susulic, Vojkan, Zhang, Rosemary, Szpurka, Hadrian, Maciejewski, Jaroslaw P.

“…Dasatinib is an oral small molecule inhibitor of Abl and Src family tyrosine kinases (SFK), including p56Lck (Lck). Given the central importance of Lck in…”
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Mutational Determinants of Epigenetic Instablity in Myeloid Malignancies : MOLECULAR PATHOGENESIS OF HEMATOLOGIC MALIGNANCIES by JANKOWSKA, Anna M, SZPURKA, Hadrian

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Refractory anemia with ringed sideroblasts associated with marked thrombocytosis (RARS-T), another myeloproliferative condition characterized by JAK2 V617F mutation by Szpurka, Hadrian, Tiu, Ramon, Murugesan, Gurunathan, Aboudola, Samer, Hsi, Eric D., Theil, Karl S., Sekeres, Mikkael A., Maciejewski, Jaroslaw P.

“…JAK2 V617F mutation recently was identified as a pathogenic factor in typical chronic myeloproliferative diseases (CMPD). Some forms of myelodysplastic…”
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Mutational Determinants of Epigenetic Instablity in Myeloid Malignancies by Jankowska, Anna M, Szpurka, Hadrian

“…Until recently, myeloid neoplasms have been attributed to genomic and genetic instability leading to clonal outgrowth. However, it is now increasingly evident…”
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Abstract A12: The CDK4/CDK6 inhibitor abemaciclib inhibits transcriptional targets which facilitate growth in ER+ breast cancer cells by McNulty, Ann M., Burke, Teresa, Dempsey, Jack A., Marchal, Christophe C., Schade, Andrew E., Szpurka, Hadrian P., Dowless, Michele S., Stephens, Jennifer, Edmondson, Denise, Stayrook, Keith, Caldwell, William C., Buchanan, Sean, Merzoug, Farhana F., Beckmann, Richard P.

“…Abemaciclib (LY2835219) is an ATP-competitive inhibitor of cyclin dependent kinases 4 and 6 (CDK4/6), which is currently undergoing clinical evaluation as a…”
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Molecular lesions in childhood and adult acute megakaryoblastic leukaemia by Hama, Asahito, Muramatsu, Hideki, Makishima, Hideki, Sugimoto, Yuka, Szpurka, Hadrian, Jasek, Monika, O'Keefe, Christine, Takahashi, Yoshiyuki, Sakaguchi, Hirotoshi, Doisaki, Sayoko, Shimada, Akira, Watanabe, Nobuhiro, Kato, Koji, Kiyoi, Hitoshi, Naoe, Tomoki, Kojima, Seiji, Maciejewski, Jaroslaw P.

“…Summary While acute megakaryoblastic leukaemia (AMKL) occurs in children with (DS‐AMKL) and without (paediatric non‐DS‐AMKL) Down syndrome, it can also affect…”
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Spectrum of mutations in RARS-T patients includes TET2 and ASXL1 mutations by Szpurka, Hadrian, Jankowska, Anna M, Makishima, Hideki, Bodo, Juraj, Bejanyan, Nelli, Hsi, Eric D, Sekeres, Mikkael A, Maciejewski, Jaroslaw P

“…Abstract While a majority of patients with refractory anemia with ring sideroblasts and thrombocytosis harbor JAK2V617F and rarely MPLW515L, JAK2/MPL-negative…”
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Consequences of UTX Dysfunction in Myelodysplastic Syndrome by Jankowska, Anna M, Szpurka, Hadrian, Cheriyath, Venugopalan, Ng, Kwok Peng, Hu, Zhenbo, McDevitt, Michael A, Saunthararajah, Yogen, Maciejewski, Jaroslaw P.

“…Abstract 2427 While various mechanisms of chromosomal instability in myeloid malignancies and myelodysplastic syndrome (MDS) have been proposed based on…”
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