Results 11 to 20 of about 3,348,298 (337)

Downregulation of TREM-like transcript-1 and collagen receptor α2 subunit, two novel RUNX1-targets, contributes to platelet dysfunction in familial platelet disorder with predisposition to acute myelogenous leukemia

Haematologica, 2019
Germline RUNX1 mutations lead to thrombocytopenia and platelet dysfunction in familial platelet disorder with predisposition to acute myelogenous leukemia (AML).
Ana C. Glembotsky, Dominika Sliwa, Dominique Bluteau, Nathalie Balayn, Cecilia P. Marin Oyarzún, Anna Raimbault, Marie Bordas, Nathalie Droin, Iryna Pirozhkova, Valance Washington, Nora P. Goette, Rosana F. Marta, Rémi Favier, Hana Raslova, Paula G. Heller   +14 more
doaj   +2 more sources

P1637: RISKS FOR A PLATELET COUNT DROP: COVID-19 & ITP DATA FROM THE PLATELET DISORDER SUPPORT ASSOCIATION (PDSA) PATIENT REGISTRY [PDF]

HemaSphere, 2022
J. DiRaimo, C. Kruse, A. Kruse, M. Lambert, J. B. Bussel   +4 more
doaj   +2 more sources

Down-regulation of the RUNX1-target gene NR4A3 contributes to hematopoiesis deregulation in familial platelet disorder/acute myelogenous leukemia [PDF]

Blood, 2011
RUNX1 encodes a DNA-binding α subunit of the core-binding factor, a heterodimeric transcription factor. RUNX1 is a master regulatory gene in hematopoiesis and its disruption is one of the most common aberrations in acute leukemia.
Dominique Bluteau, Laure Gilles, Morgane Hilpert, Iléana Antony‐Debré, Chloé James, Najet Debili, Valérie Camara‐Clayette, Orianne Wagner‐Ballon, Véronique Cordette-Lagarde, Thomas Robert, Hugues Ripoche, Patrick Gonin, Sabina Świerczek, Josef T. Prchal, William Vainchenker, Rémi Favier, Hana Raslová   +16 more
openalex   +2 more sources

Studies of a familial platelet disorder [PDF]

Blood, 1985
Abstract At least 22 members of a large kindred have a bleeding tendency resulting from an autosomal dominant disorder of platelet production and function. Phenotypic manifestations include mild to moderate thrombocytopenia, bleeding time prolongation, and abnormal platelet aggregation. Platelet survival time is normal.
Diana S. Beardsley, SB Dowton, Frederick P. Li, Dean T. Jamison, S Blattner   +4 more
semanticscholar   +6 more sources

Platelets from patients with the Quebec platelet disorder contain and secrete abnormal amounts of urokinase-type plasminogen activator [PDF]

Blood, 2001
The Quebec platelet disorder (QPD) is an autosomal dominant platelet disorder associated with delayed bleeding and alpha-granule protein degradation.
Walter H.A. Kahr, Shilun Zheng, Prameet M. Sheth, Menaka Pai, Alison Cowie, Madeleine Bouchard, Thomas J. Podor, Georges E. Rivard, Catherine P.M. Hayward   +8 more
openalex   +2 more sources

Bleeding risks associated with inheritance of the Quebec platelet disorder [PDF]

Blood, 2004
Quebec platelet disorder (QPD) is an autosomal dominant bleeding disorder associated with increased urokinase-type plasminogen activator in platelets and alpha-granule protein degradation.
Heather McKay, Francine Derome, M.A. Haq, Susan Whittaker, Emmy Arnold, Frédéric Adam, Nancy M. Heddle, Georges E. Rivard, Catherine P.M. Hayward   +8 more
openalex   +2 more sources

Five new pedigrees with inherited RUNX1 mutations causing familial platelet disorder with propensity to myeloid malignancy [PDF]

Blood, 2008
Familial platelet disorder with propensity to myeloid malignancy (FPD/AML) is an autosomal dominant syndrome characterized by platelet abnormalities and a predisposition to myelodysplasia (MDS) and/or acute myeloid leukemia (AML). The disorder, caused by
Carolyn Owen, Cynthia L. Toze, Anna Koochin, Donna L. Forrest, Clayton A. Smith, Jane Stevens, Shannon Jackson, Man‐Chiu Poon, Gary Sinclair, Brian Leber, Peter Johnson, Anthony Macheta, John A. Liu Yin, Michael J. Barnett, Tim Lister, Jude Fitzgibbon   +15 more
openalex   +2 more sources

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

Blood, 2002
Familial platelet disorder with predisposition to acute myelogenous leukemia (FPD/AML) is an autosomal dominant familial platelet disorder characterized by thrombocytopenia and a propensity to develop AML.
Jacques L. Michaud
openalex   +2 more sources

Increased expression of urokinase plasminogen activator in Quebec platelet disorder is linked to megakaryocyte differentiation

Blood, 2008
Quebec platelet disorder (QPD) is an inherited bleeding disorder associated with increased urokinase plasminogen activator (uPA) in platelets but not in plasma, intraplatelet plasmin generation, and alpha-granule protein degradation.
D. Kika Veljkovic, Georges E. Rivard, Maria Diamandis, Jessica Blavignac, Elisabeth M. Cramer, Catherine P.M. Hayward   +5 more
openalex   +3 more sources

Low Mpl receptor expression in a pedigree with familial platelet disorder with predisposition to acute myelogenous leukemia and a novel AML1 mutation

Blood, 2005
Germ-line heterozygous mutations in the hematopoietic transcription factor AML1 (RUNX1) have been identified in patients with familial platelet disorder with predisposition to acute myelogenous leukemia (FPD/AML), which is characterized by ...
Paula G. Heller, Ana C. Glembotsky, Manish J. Gandhi, Carrie L. Cummings, Carlos J. Pirola, Rosana F. Marta, Laura Kornblihtt, Jonathan G. Drachman, Felisa C. Molinas   +8 more
openalex   +2 more sources