Results 11 to 20 of about 3,441,901 (408)

Quebec platelet disorder [PDF]

Expert Review of Hematology, 2011
Quebec platelet disorder (QPD) is an autosomal dominant bleeding disorder associated with a unique gain-of-function defect in fibrinolysis. In the past 5 years, there have been important advances in the understanding of the pathogenesis of QPD, including its genetic cause, which is a copy number variation mutation of PLAU, the gene for urokinase ...
Catherine P.M. Hayward, Georges E. Rivard   +1 more
openaire   +4 more sources

Quebec platelet disorder [PDF]

Journal of the College of Physicians and Surgeons--Pakistan : JCPSP, 2010
A case of Quebec platelet disorder is hereby reported. A 33 years old woman presented with history of epistaxis and gum bleeding since childhood and menorrhagia and bleeding per vaginum after puberty, also had history of excessive blood loss after birth ...
Abbasi, Anwar Hussain, Hussain, Syed Ather, Shaikh, Quratulain   +2 more
core   +3 more sources

COL4A1/COL4A2 and inherited platelet disorder gene variants in fetuses showing intracranial hemorrhage. [PDF]

Prenat Diagn, 2022
Variants of COL4A1/COL4A2 genes have been reported in fetal intracranial hemorrhage (ICH) cases but their prevalence and characteristics have not been established in a large series of fetuses.
Coste T, Vincent-Delorme C, Stichelbout M, Devisme L, Gelot A, Deryabin I, Pelluard F, Aloui C, Leutenegger AL, Jouannic JM, Héron D, Gould DB, Tournier-Lasserve E.   +12 more
europepmc   +2 more sources

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

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

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

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

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 [PDF]

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

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

Natural history study of patients with familial platelet disorder with associated myeloid malignancy.

Blood, 2023
Deleterious germline RUNX1 variants cause the autosomal dominant disease familial platelet disorder with associated myeloid malignancy (FPDMM), characterized by thrombocytopenia, platelet functional defects and predisposition to hematologic malignancies (
Cunningham L, Merguerian M, Calvo KR, Davis J, Deuitch NT, Dulau-Florea A, Patel N, Yu K, Sacco K, Bhattacharya S, Passi M, Ozkaya N, De Leon S, Chong S, Craft K, Diemer J, Bresciani E, O'Brien K, Andrews EJ, Park N, Hathaway L, Cowen EW, Heller T, Ryan K, Barochia A, Nghiem K, Niemela J, Rosenzweig S, Young DJ, Frischmeyer-Guerrerio PA, Braylan R, Liu PP.   +31 more
europepmc   +2 more sources