Search Results - "Plasilova, M"

NUP98 Dysregulation in Myeloid Leukemogenesis by MOORE, M. A. S., CHUNG, K. Y., PLASILOVA, M., SCHURINGA, J. J., SHIEH, J.-H., ZHOU, P., MORRONE, G.

“…:  Nucleoporin 98 (NUP98) is a component of the nuclear pore complex that facilitates mRNA export from the nucleus. It is mapped to 11p15.5 and is fused to a…”
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Homozygous missense mutation in the lamin A/C gene causes autosomal recessive Hutchinson-Gilford progeria syndrome by Plasilova, M, Chattopadhyay, C, Pal, P, Schaub, N A, Buechner, S A, Mueller, Hj, Miny, P, Ghosh, A, Heinimann, K

“…[...]to B-type lamins, which are ubiquitously expressed in all cell types at all developmental stages, A-type lamins are absent in the cells of the early…”
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Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary congenital glaucoma by Plášilová, Martina, Stoilov, Ivaylo, Sarfarazi, Mansoor, Kádasi, Ludovít, Feráková, Eva, Ferák, Vladimír

“…Primary congenital glaucoma (PCG) is an autosomal recessive eye disease that occurs at an unusually high frequency in the ethnic isolate of Roms (Gypsies) in…”
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TRAIL (Apo2l) suppresses growth of primary human leukemia and myelodysplasia progenitors by PLASILOVA, M, ZIVNY, J, JELINEK, J, NEUWIRTOVA, R, CERMAK, J, NECAS, E, ANDERA, L, STOPKA, T

“…Tumor necrosis factor-related apoptosis-inducing ligand (TRAIL, APO2L) has been shown to induce apoptosis in a number of tumor cell lines as well as in some…”
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Shared and individual specificities of immunodominant cytotoxic T-cell clones in paroxysmal nocturnal hemoglobinuria as determined by molecular analysis by Plasilova, Magdalena, Risitano, Antonio M, O'Keefe, Christine L, Rodriguez, Alexander, Wlodarski, Marcin, Young, Neal S, Maciejewski, Jaroslaw

“…Similar immune mechanisms have been suggested to operate in aplastic anemia (AA) and paroxysmal nocturnal hemoglobinuria (PNH), and the presence of PNH clones…”
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Linkage of autosomal recessive primary congenital glaucoma to the GLC3A locus in Roms (Gypsies) from Slovakia by Plásilová, M, Feráková, E, Kádasi, L, Poláková, H, Gerinec, A, Ott, J, Ferák, V

“…The autosomal recessive form of primary congenital glaucoma (gene symbol GLC3) has been recently mapped to two different loci, GLC3A (at 2p21), and GLC3B (at…”
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In-vivo dominant immune responses in aplastic anaemia: molecular tracking of putatively pathogenetic T-cell clones by TCR β-CDR3 sequencing by Risitano, Antonio M, Maciejewski, Jaroslaw P, Green, Spencer, Plasilova, Magdalena, Zeng, Weihua, Young, Neal S

“…Aplastic anaemia is a bone-marrow-failure syndrome characterised by low blood-cell counts and fatty bone marrow. In most cases, no obvious aetiological factor…”
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Mitochondria Play a Central Role in Apoptosis Induced by α-Tocopheryl Succinate, an Agent with Antineoplastic Activity:  Comparison with Receptor-Mediated Pro-Apoptotic Signaling by Weber, Tobias, Dalen, Helge, Andera, Ladislav, Nègre-Salvayre, Anne, Augé, Nathalie, Sticha, Martin, Lloret, Ana, Terman, Alexei, Witting, Paul K, Higuchi, Masahiro, Plasilova, Magdalena, Zivny, Jan, Gellert, Nina, Weber, Christian, Neuzil, Jiri

“…α-Tocopheryl succinate (α-TOS) is a semisynthetic vitamin E analogue with high pro-apoptotic and anti-neoplastic activity [Weber, T et al. (2002) Clin. Cancer…”
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Gene conversion is a frequent mechanism of inactivation of the wild-type allele in cancers from MLH1/MSH2 deletion carriers by JIAN ZHANG, LINDROOS, Annette, OLLILA, Saara, RUSSELL, Anna, MARRA, Giancarlo, MUELLER, Hansjakob, PELTOMAKI, Paivi, PLASILOVA, Martina, HEINIMANN, Karl

“…Hereditary nonpolyposis colorectal cancer (HNPCC) is an autosomal dominantly inherited cancer predisposition syndrome caused by germ line mutations in DNA…”
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Molecular Analysis of TCR Clonotypes in LGL: A Clonal Model for Polyclonal Responses by O'Keefe, Christine L, Plasilova, Magdalena, Wlodarski, Marcin, Risitano, Antonio M, Rodriguez, Alexander R, Howe, Evan, Young, Neal S, Hsi, Eric, Maciejewski, Jaroslaw P

“…Large granular lymphocytic (LGL) leukemia is a clonal lymphoproliferative disorder of CTL associated with cytopenias resulting from an immune and cytokine…”
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Evidence for genetic anticipation in hereditary non-polyposis colorectal cancer by WESTPHALEN, Alexander A, RUSSELL, Anna M, BUSER, Mauro, BERTHOD, Claudine Rey, HUTTER, Pierre, PLASILOVA, Martina, MUELLER, Hansjakob, HEINIMANN, Karl

“…Hereditary non-polyposis colorectal cancer (HNPCC) is an autosomal, dominantly inherited, colorectal cancer (CRC) predisposition syndrome caused by germline…”
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A de Novo PABPN1 Germline Mutation in a Patient with Oculopharyngeal Muscular Dystrophy by Gürtler, Nicolas, Plasilova, Martina, Podvinec, Mihael, Boesch, Nemya, Müller, Hansjakob, Heinimann, Karl

“…Background: Oculopharyngeal muscular dystrophy (OPMD) is a late‐onset autosomal dominantly inherited disorder characterized by dysphagia, ptosis, and proximal…”
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Expression of genes regulating angiogenesis in human circulating hematopoietic cord blood CD34+/CD133+ cells by Pomyje, Jiří, Živný, Jan, Šefc, Luděk, Plašilová, Magdalena, Pytlík, Robert, Nečas, Emanuel

“…: Objectives: Human CD34+ cells represent a heterogeneous population of immature cells which may differentiate to various cell types. The aim of the study was…”
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TRAIL suppresses growth of primary human leukemia and myelodysplasia progenitors by Plasilova, M, Zivny, J, Jelinek, J, Neuwirtova, R, Cermak, J, Necas, E, Andera, L, Stopka, T

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Exclusion of an extracolonic disease modifier locus on chromosome 1p33-36 in a large Swiss familial adenomatous polyposis kindred by PLASILOVA, M, RUSSELL, A. M, WANNER, A, WOLF, A, DOBBIE, Z, MÜLLER, H. J, HEINIMANN, K

“…Familial adenomatous polyposis (FAP), an autosomal dominantly inherited colorectal cancer predisposition syndrome, displays considerable inter- and…”
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Diamond blackfan anemia stem cells fail to repopulate erythropoiesis in NOD/SCID mice by Zivny, Jan, Jelinek, Jaroslav, Pospisilova, Dagmar, Plasilova, Magdalena, Necas, Emanuel, Stopka, Tomas

“…Diamond Blackfan Anemia (DBA) is a congenital disorder characterized by decreased red blood cell production and developmental abnormalities. We herein show…”
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Mitochondria play a central role in apoptosis induced by a-tocopheryl succinate, an agent with antineoplastic activity: Comparison with receptor-mediated pro-apoptotic signaling by Weber, A, Dalen, Helge, Andera, L, Nègre-Salvayre, A, Augé, N, Sticha, M, Loret, A, Terman, Alexei, Witting, PK, Higuchi, M, Plasilova, M, Zivny, J, Gellert, N, Weber, C, Neuzil, Jiri

“…a-Tocopheryl succinate (a-TOS) is a semisynthetic vitamin E analogue with high pro-apoptotic and anti-neoplastic activity [Weber, T et al. (2002) Clin. Cancer…”
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Genetic predisposition as a basis for chemoprevention, surgical and other interventions in colorectal cancer by Müller, Hansjakob, Plasilova, Martina, Russell, Anna Marie, Heinimann, Karl

“…Strategies of cancer prevention are generally developed with the population at large in mind. However, special attention is warranted for those persons with…”
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Molecular diagnosis of mutations responsible for recurrent and severe forms of primary congenital glaucoma by Plásilová, M, Gerinec, A, Ferák, V

“…A PCR-based test has been developed that makes it possible to detect a G to A substitution in the cytochrome P4501B1 gene. This mutation brings about a…”
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2 clinico-genetic types of primary congenital glaucomas in Slovakia by Gerinec, A, Ferák, V, Plásilová, M

“…The authors present the results of a 20-year follow-up of a group of 125 patients with primary congenital glaucoma. Based on 10 fundamentally different…”
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