Identification of mutations in the c-mpl gene in congenital amegakaryocytic thrombocytopenia
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چکیده
منابع مشابه
[Identification of mutations in c-mpl gene in congenital amegakaryocytic thrombocytopenia].
Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare disorder expressed in infancy and characterized by isolated thrombocytopenia and megakaryocytopenia with no physical anomalies. Our previous hematological analysis indicated similarities between human CAMT and murine c-mpl (thrombopoietin receptor) deficiency. Because the c-mpl gene was considered as one of the candidate genes for thi...
متن کاملc-mpl mutations are the cause of congenital amegakaryocytic thrombocytopenia.
Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare disease presenting with isolated thrombocytopenia in infancy and developing into a pancytopenia in later childhood. Thrombopoietin (TPO) is the main regulator of thrombocytopoiesis and has also been demonstrated to be an important factor in early hematopoiesis. We analyzed 9 patients with CAMT for defects in TPO production and reactiv...
متن کاملScreening for c-mpl mutations in patients with congenital amegakaryocytic thrombocytopenia identifies a polymorphism.
a therapeutic approach to children and adolescents with AML that leads to cure half of the time,. .. irrespective of the presence of a. .. family donor. " 1(p61) It is true that the presented event-free survival estimates for both the allogeneic BMT and chemotherapy groups receiving intensively timed induction therapy exceeded 50% (66% and 53%, respectively); this statement is misleading, howev...
متن کاملCongenital amegakaryocytic thrombocytopenia iPS cells exhibit defective MPL-mediated signaling.
Congenital amegakaryocytic thrombocytopenia (CAMT) is caused by the loss of thrombopoietin receptor-mediated (MPL-mediated) signaling, which causes severe pancytopenia leading to bone marrow failure with onset of thrombocytopenia and anemia prior to leukopenia. Because Mpl(-/-) mice do not exhibit the human disease phenotype, we used an in vitro disease tracing system with induced pluripotent s...
متن کاملSevere Clinical Course in a Patient with Congenital Amegakaryocytic Thrombocytopenia Due to a Missense Mutation of the c-MPL Gene
Congenital amegakaryocytic thrombocytopenia (CAMT) generally begins at birth with severe thrombocytopenia and progresses to pancytopenia. It is caused by mutations in the thrombopoietin receptor gene, the myeloproliferative leukemia virus oncogene (c-MPL). The association between CAMT and c-MPL mutation type has been reported in the literature. Patients with CAMT have been categorized according...
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ژورنال
عنوان ژورنال: Proceedings of the National Academy of Sciences
سال: 1999
ISSN: 0027-8424,1091-6490
DOI: 10.1073/pnas.96.6.3132