Quebec platelet disorder

02/15/1997 - "Studies of a second family with the Quebec platelet disorder: evidence that the degradation of the alpha-granule membrane and its soluble contents are not secondary to a defect in targeting proteins to alpha-granules."
02/15/1997 - "Pathologic proteolysis of alpha-granular contents, rather than a defect in targeting proteins to alpha-granules, may be the cause of the protein degradation in the Quebec platelet disorder."
02/01/1997 - "The abnormality in the factor V Quebec disorder leads to a degradation of most proteins contained within the alpha-granule. "
05/01/1996 - "The results indicate that factor V Quebec disorder is probably associated with a generalized defect that leads to degradation of most proteins of the alpha-granules."
08/01/2003 - "The Quebec Platelet Disorder (QPD) is an unusual bleeding disorder associated with increased platelet stores of urokinase-type plasminogen activator (u-PA) and proteolysis of platelet alpha-granule proteins. "

10/01/2019 - "A unique gain-of-function defect in fibrinolysis causes the Quebec platelet disorder (QPD) which is characterized by profibrinolytic platelets containing increased urokinase-type plasminogen activator (uPA) in the α-granules. "
08/01/2008 - "The diagnosis of Quebec Platelet Disorder was confirmed by urokinase-specific Western blots. "
07/15/2001 - "Platelets from patients with the Quebec platelet disorder contain and secrete abnormal amounts of urokinase-type plasminogen activator."
07/01/2004 - "Quebec platelet disorder (QPD) is an autosomal dominant bleeding disorder associated with increased urokinase-type plasminogen activator in platelets and alpha-granule protein degradation. "
08/01/2003 - "These transgenic mice had altered platelet biology and a bleeding diathesis similar to that seen in patients with Quebec platelet disorder, affirming the role of ectopic urokinase expression as the etiology of this inherited disease. "

02/11/2010 - "Persons with Quebec platelet disorder have a tandem duplication of PLAU, the urokinase plasminogen activator gene."
02/12/2009 - "Increased expression of urokinase plasminogen activator in Quebec platelet disorder is linked to megakaryocyte differentiation."
02/12/2009 - "Quebec platelet disorder is linked to the urokinase plasminogen activator gene (PLAU) and increases expression of the linked allele in megakaryocytes."
07/01/2008 - "Evaluation of urokinase plasminogen activator in urine from individuals with Quebec platelet disorder."
01/01/2017 - "Quebec Platelet disorder (QPD) is a unique bleeding disorder that markedly increases urokinase plasminogen activator (uPA) in megakaryocytes and platelets but not in plasma or urine. "

03/01/1997 - "In one of these patients this may be caused by an abnormality in platelet alpha-granule factor V distinct from that described for factor V Quebec, alpha delta-SPD, or alpha-SPD (gray platelet syndrome). "
02/01/2001 - "In addition, her platelet multimerin was normal and immunoblot analysis excluded the type of generalized granular protein defect and pathological proteolysis that has been suggested to explain the factor V defect in the Quebec platelet disorder. "
02/01/2001 - "Platelet factor V New York: a defect in factor V distinct from that in factor V Quebec resulting in impaired prothrombinase generation."
03/01/2009 - "In the Quebec platelet disorder, overexpression of the fibrinolytic enzyme urokinase-type plasminogen activator results in the degradation of alpha-granule proteins, including factor V, and a specific abnormality in platelet factor V is the basis for the prothrombinase defect in platelet factor V-New York. "
12/01/2020 - "We used CAT to assess thrombin generation (TG) in Quebec platelet disorder (QPD)-a bleeding disorder caused by a PLAU duplication mutation that increases platelet (but not plasma) urokinase plasminogen activator (uPA), leading to intraplatelet (but not systemic) plasmin generation that degrades α-granule proteins and causes platelet (but not plasma) factor V (FV) deficiency. "

10/01/1984 - "Factor V (Quebec): a bleeding diathesis associated with a qualitative platelet Factor V deficiency."
06/15/1996 - "Patients with factor V Quebec, a disorder with abnormal platelet factor V, had a quantitative deficiency in multimerin (n = 11 tested; mean, 12.5%; range, 5% to 27% of the normal pool; normal range, 45% to 214%) with a normal multimer pattern. "
02/01/2001 - "Platelet factor V New York: a defect in factor V distinct from that in factor V Quebec resulting in impaired prothrombinase generation."
03/01/2009 - "In the Quebec platelet disorder, overexpression of the fibrinolytic enzyme urokinase-type plasminogen activator results in the degradation of alpha-granule proteins, including factor V, and a specific abnormality in platelet factor V is the basis for the prothrombinase defect in platelet factor V-New York. "
06/15/1996 - "These data indicate that patients with factor V Quebec have an inherited bleeding disorder distinct from other platelet disorders and associated with multiple abnormalities, including multimerin deficiency, abnormal platelet factor V, thrombospondin, von Willebrand factor, and fibrinogen, and an epinephrine aggregation defect."

05/01/1997 - "Patients with the Quebec platelet disorder (13/13) had elevated serum FDPs (P < 0.01) due to secreted degraded platelet fibrinogen, but normal plasma FDPs and D-dimers. "
05/01/1997 - "Fibrinogen degradation products in patients with the Quebec platelet disorder."
05/01/1997 - "The Quebec platelet disorder is a serious bleeding disorder associated with proteolysis of alpha-granular proteins, including fibrinogen. "
08/01/2008 - "Platelet proteomics showed reduced amounts of alpha-granule proteins multimerin, fibrinogen and thrombospondin-1 in patient compared to control samples suggestive of Quebec Platelet Disorder. "
06/15/1996 - "The levels of platelet beta-thromboglobulin, von Willebrand factor, thrombospondin, and fibrinogen antigen were normal in the factor V Quebec patients. "

06/15/1996 - "Patients with factor V Quebec, a disorder with abnormal platelet factor V, had a quantitative deficiency in multimerin (n = 11 tested; mean, 12.5%; range, 5% to 27% of the normal pool; normal range, 45% to 214%) with a normal multimer pattern. "
08/01/2008 - "Platelet proteomics showed reduced amounts of alpha-granule proteins multimerin, fibrinogen and thrombospondin-1 in patient compared to control samples suggestive of Quebec Platelet Disorder. "
02/01/2001 - "In addition, her platelet multimerin was normal and immunoblot analysis excluded the type of generalized granular protein defect and pathological proteolysis that has been suggested to explain the factor V defect in the Quebec platelet disorder. "
06/15/1996 - "These data indicate that patients with factor V Quebec have an inherited bleeding disorder distinct from other platelet disorders and associated with multiple abnormalities, including multimerin deficiency, abnormal platelet factor V, thrombospondin, von Willebrand factor, and fibrinogen, and an epinephrine aggregation defect."

02/01/2001 - "Platelet factor V New York: a defect in factor V distinct from that in factor V Quebec resulting in impaired prothrombinase generation."
03/01/2009 - "In the Quebec platelet disorder, overexpression of the fibrinolytic enzyme urokinase-type plasminogen activator results in the degradation of alpha-granule proteins, including factor V, and a specific abnormality in platelet factor V is the basis for the prothrombinase defect in platelet factor V-New York. "

04/01/2020 - "Quebec platelet disorder (QPD) is a condition that causes delayed-onset bleeding after hemostatic challenges. "
05/01/2006 - "The Quebec platelet disorder (QPD) is inherited and characterized by delayed-onset bleeding following hemostatic challenge. "

02/12/2009 - "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. "
12/01/2020 - "We used CAT to assess thrombin generation (TG) in Quebec platelet disorder (QPD)-a bleeding disorder caused by a PLAU duplication mutation that increases platelet (but not plasma) urokinase plasminogen activator (uPA), leading to intraplatelet (but not systemic) plasmin generation that degrades α-granule proteins and causes platelet (but not plasma) factor V (FV) deficiency. "

12/01/2020 - "Improved platelet counts during prolonged tranexamic therapy for Quebec platelet disorder implicate the underlying fibrinolytic defect as the cause of lower platelet counts."

04/01/2020 - "Management of Quebec Platelet Disorder for Cervical Facet Injections in the Outpatient Setting: A Case Report."