Germ-line GATA2 p.THR354MET mutation in familial myelodysplastic syndrome with acquired monosomy 7 and ASXL1 mutation demonstrating rapid onset and poor survival.
about
Master regulatory GATA transcription factors: mechanistic principles and emerging links to hematologic malignanciesGATA family transcriptional factors: emerging suspects in hematologic disordersHeritable GATA2 mutations associated with familial AML-MDS: a case report and review of literatureGATA2 deficiency.Spectrum of myeloid neoplasms and immune deficiency associated with germline GATA2 mutations.Haematopoietic and immune defects associated with GATA2 mutation.Young woman with mild bone marrow dysplasia, GATA2 and ASXL1 mutation treated with allogeneic hematopoietic stem cell transplantationGenomic analysis of germ line and somatic variants in familial myelodysplasia/acute myeloid leukemia.NotI microarrays: novel epigenetic markers for early detection and prognosis of high grade serous ovarian cancer.High frequency of GATA2 mutations in patients with mild chronic neutropenia evolving to MonoMac syndrome, myelodysplasia, and acute myeloid leukemia.Acquired ASXL1 mutations are common in patients with inherited GATA2 mutations and correlate with myeloid transformation.GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity.The evolution of cellular deficiency in GATA2 mutationFamilial myelodysplastic syndrome/acute leukemia syndromes: a review and utility for translational investigationsFamilial leukemias.Successful umbilical cord blood hematopoietic stem cell transplantation in pediatric patients with MDS/AML associated with underlying GATA2 mutations: two case reports and review of literature.Myelodysplastic syndromes and acute leukemia with genetic predispositions: a new challenge for hematologists.Heterogeneity of GATA2-related myeloid neoplasms.GATA2 deficiency and related myeloid neoplasms.Acute lymphoblastic leukemia in a patient with MonoMAC syndrome/GATA2 haploinsufficiency.Functional evidence implicating chromosome 7q22 haploinsufficiency in myelodysplastic syndrome pathogenesis.Familial Myelodysplastic/Acute Leukemia Syndromes-Myeloid Neoplasms with Germline PredispositionIdentification of acquired mutations by whole-genome sequencing in GATA-2 deficiency evolving into myelodysplasia and acute leukemiaGATA2 and secondary mutations in familial myelodysplastic syndromes and pediatric myeloid malignancies.Collaborating constitutive and somatic genetic events in myeloid malignancies: ASXL1 mutations in patients with germline GATA2 mutations.Highly variable clinical manifestations in a large family with a novel GATA2 mutation.In vivo T-depleted reduced intensity transplantation for GATA2-related immune dysfunction.Differential effects on gene transcription and hematopoietic differentiation correlate with GATA2 mutant disease phenotypes.Bacille Calmette–Guerin Complications in Newly Described Primary Immunodeficiency Diseases: 2010–2017.Natural history of GATA2 deficiency in a survey of 79 French and Belgian patients
P2860
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P2860
Germ-line GATA2 p.THR354MET mutation in familial myelodysplastic syndrome with acquired monosomy 7 and ASXL1 mutation demonstrating rapid onset and poor survival.
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
2012年论文
@zh
2012年论文
@zh-cn
name
Germ-line GATA2 p.THR354MET mu ...... rapid onset and poor survival.
@ast
Germ-line GATA2 p.THR354MET mu ...... rapid onset and poor survival.
@en
type
label
Germ-line GATA2 p.THR354MET mu ...... rapid onset and poor survival.
@ast
Germ-line GATA2 p.THR354MET mu ...... rapid onset and poor survival.
@en
prefLabel
Germ-line GATA2 p.THR354MET mu ...... rapid onset and poor survival.
@ast
Germ-line GATA2 p.THR354MET mu ...... rapid onset and poor survival.
@en
P2093
P2860
P50
P1433
P1476
Germ-line GATA2 p.THR354MET mu ...... rapid onset and poor survival
@en
P2093
Aline Renneville
András Matolcsy
Biju Krishnan
Carolyn Owen
Jamie Cavenagh
Jude Fitzgibbon
Karolina Kramarzová
Matthew Smith
Michael J Barnett
Pascaline Etancelin
P2860
P304
P356
10.3324/HAEMATOL.2011.054361
P577
2012-01-22T00:00:00Z