COL4A1/COL4A2 and inherited platelet disorder gene variants in fetuses showing intracranial hemorrhage
Sign Up to like & getrecommendations! Published in 2022 at "Prenatal Diagnosis"
DOI: 10.1002/pd.6113
Abstract: 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. Fetal neonatal alloimmune thrombocytopenia is a major… read more here.
Keywords: gene variants; col4a1 col4a2; inherited platelet; col4a2 ... See more keywords
Acquired TET2 mutation in one patient with familial platelet disorder with predisposition to AML led to the development of pre‐leukaemic clone resulting in T2‐ALL and AML‐M0
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Cellular and Molecular Medicine"
DOI: 10.1111/jcmm.13051
Abstract: Familial platelet disorder with predisposition to acute myeloid leukaemia (FPD/AML) is characterized by germline RUNX1 mutations, thrombocytopaenia, platelet dysfunction and a risk of developing acute myeloid and in rare cases lymphoid T leukaemia. Here, we… read more here.
Keywords: clone; platelet disorder; familial platelet; aml ... See more keywords
Enhancer-gene rewiring in the pathogenesis of Quebec Platelet Disorder.
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DOI: 10.1182/blood.2020005394
Abstract: Quebec Platelet Disorder (QPD) is an autosomal dominant bleeding disorder with a unique, platelet-dependent gain-of-function defect in fibrinolysis, without systemic fibrinolysis. The hallmark feature of QPD is a >100-fold overexpression of PLAU specifically in megakaryocytes.… read more here.
Keywords: plau; quebec platelet; platelet disorder; disorder ... See more keywords