Literature DB >> 3855665

Studies of a familial platelet disorder.

S B Dowton, D Beardsley, D Jamison, S Blattner, F P Li.   

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. The platelet disorder in this family appears to differ from known hereditary thrombocytopenic or thrombocytopathic syndromes and may represent a new genetic disease. Six family members reportedly developed hematologic neoplasms: acute monocytic leukemia nine years after treatment for congenital neuroblastoma; lymphosarcoma at age 10 years; myeloid leukemia at age 23 years; acute myelocytic leukemia at age 62 years; leukemia of unknown type at age 48 years; and lymphocytic lymphoma at age 52 years.

Entities:  

Mesh:

Year:  1985        PMID: 3855665

Source DB:  PubMed          Journal:  Blood        ISSN: 0006-4971            Impact factor:   22.113


  17 in total

1.  Anticipation in familial leukemia.

Authors:  M Horwitz; E L Goode; G P Jarvik
Journal:  Am J Hum Genet       Date:  1996-11       Impact factor: 11.025

Review 2.  Role of RUNX1 in hematological malignancies.

Authors:  Raman Sood; Yasuhiko Kamikubo; Paul Liu
Journal:  Blood       Date:  2017-02-08       Impact factor: 22.113

3.  Hereditary leukemia due to rare RUNX1c splice variant (L472X) presents with eczematous phenotype.

Authors:  A Sorrell; C Espenschied; W Wang; J Weitzel; S Chu; P Parker; S Saldivar; R Bhatia
Journal:  Int J Clin Med       Date:  2012-12-01

Review 4.  Myeloid neoplasms with germ line RUNX1 mutation.

Authors:  Yoshihiro Hayashi; Yuka Harada; Gang Huang; Hironori Harada
Journal:  Int J Hematol       Date:  2017-05-22       Impact factor: 2.490

Review 5.  The role of the AML1 transcription factor in leukemogenesis.

Authors:  R B Lorsbach; J R Downing
Journal:  Int J Hematol       Date:  2001-10       Impact factor: 2.490

6.  T cell acute lymphoblastic leukemia arising from familial platelet disorder.

Authors:  Nahoko Nishimoto; Yoichi Imai; Koki Ueda; Masahiro Nakagawa; Akihito Shinohara; Motoshi Ichikawa; Yasuhito Nannya; Mineo Kurokawa
Journal:  Int J Hematol       Date:  2010-06-12       Impact factor: 2.490

7.  Targeted correction of RUNX1 mutation in FPD patient-specific induced pluripotent stem cells rescues megakaryopoietic defects.

Authors:  Jon P Connelly; Erika M Kwon; Yongxing Gao; Niraj S Trivedi; Abdel G Elkahloun; Marshall S Horwitz; Linzhao Cheng; P Paul Liu
Journal:  Blood       Date:  2014-09-18       Impact factor: 22.113

Review 8.  Familial myelodysplastic syndromes: a review of the literature.

Authors:  Elena Liew; Carolyn Owen
Journal:  Haematologica       Date:  2011-05-23       Impact factor: 9.941

9.  Genetic heterogeneity in familial acute myelogenous leukemia: evidence for a second locus at chromosome 16q21-23.2.

Authors:  M Horwitz; K F Benson; F Q Li; J Wolff; M F Leppert; L Hobson; M Mangelsdorf; S Yu; D Hewett; R I Richards; W H Raskind
Journal:  Am J Hum Genet       Date:  1997-10       Impact factor: 11.025

Review 10.  A role for RUNX1 in hematopoiesis and myeloid leukemia.

Authors:  Motoshi Ichikawa; Akihide Yoshimi; Masahiro Nakagawa; Nahoko Nishimoto; Naoko Watanabe-Okochi; Mineo Kurokawa
Journal:  Int J Hematol       Date:  2013-04-24       Impact factor: 2.490

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