The evolution of cellular deficiency in GATA2 mutation

scientific article published on 17 December 2013

The evolution of cellular deficiency in GATA2 mutation is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1182/BLOOD-2013-07-517151
P932PMC publication ID3916878
P698PubMed publication ID24345756
P5875ResearchGate publication ID259352085

P50authorJohn DickQ6229356
Magnus GottfredssonQ37371860
Gideon M. HirschfieldQ37829929
Yenan BrycesonQ40448764
Mikko SeppänenQ42276109
Naomi McgovernQ42762867
Stephen JollesQ43122863
Eleonora GambineriQ43300293
Venetia BigleyQ55473581
Chris M BaconQ56434360
Sasan ZandiQ58329566
James E ThaventhiranQ60706508
Alexander LangridgeQ63969345
Muzlifah HaniffaQ65560182
Sophie HambletonQ87744473
Josef T PrchalQ88569926
Andrew R GenneryQ89004572
Laura JardineQ91652149
Sarah PaganQ125260797
P2093author name stringRachel E Dickinson
Matthew Helbert
Sabina I Swierczek
Eleni Tholouli
Tarja Heiskanen-Kosma
Matthew Collin
Emma Morris
Alex G Richter
Carl Allen
Paul Milne
Sari Hämäläinen
Sharon Cookson
Sigrún Reykdal
Zaveyna Ferozepurwalla
P2860cites workLigand for FLT3/FLK2 receptor tyrosine kinase regulates growth of haematopoietic stem cells and is encoded by variant RNAsQ24310069
Autosomal dominant and sporadic monocytopenia with susceptibility to mycobacteria, fungi, papillomaviruses, and myelodysplasiaQ24634431
Two subsets of memory T lymphocytes with distinct homing potentials and effector functionsQ28146072
Biochemical and genetic characterization of multiple splice variants of the Flt3 ligandQ28587182
Haploinsufficiency of GATA-2 perturbs adult hematopoietic stem-cell homeostasisQ28587266
GATA2 haploinsufficiency caused by mutations in a conserved intronic element leads to MonoMAC syndromeQ28704337
Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency.Q30368393
Cytometry by time-of-flight shows combinatorial cytokine expression and virus-specific cell niches within a continuum of CD8+ T cell phenotypesQ30543634
Mice lacking flt3 ligand have deficient hematopoiesis affecting hematopoietic progenitor cells, dendritic cells, and natural killer cellsQ30873503
NK cell terminal differentiation: correlated stepwise decrease of NKG2A and acquisition of KIRsQ33654187
Levels of soluble CD40 ligand (CD154) in serum are increased in human immunodeficiency virus type 1-infected patients and correlate with CD4(+) T-cell countsQ33943382
Antimicrobial activity of mucosal-associated invariant T cellsQ34022899
Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome.Q34192317
Myelodysplasia in autosomal dominant and sporadic monocytopenia immunodeficiency syndrome: diagnostic features and clinical implicationsQ35143513
Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemiaQ35249294
Successful allogeneic hematopoietic stem cell transplantation for GATA2 deficiency.Q35266306
Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculatureQ35750366
Germ-line GATA2 p.THR354MET mutation in familial myelodysplastic syndrome with acquired monosomy 7 and ASXL1 mutation demonstrating rapid onset and poor survival.Q36006394
Conditional Gata2 inactivation results in HSC loss and lymphatic mispatterningQ36290250
Cis-element mutated in GATA2-dependent immunodeficiency governs hematopoiesis and vascular integrityQ36290255
CD8 T cells express randomly selected KIRs with distinct specificities compared with NK cellsQ36352518
GATA-2 plays two functionally distinct roles during the ontogeny of hematopoietic stem cellsQ36403822
Preventing preterm births: analysis of trends and potential reductions with interventions in 39 countries with very high human development indexQ36611197
Mutations in GATA2 cause human NK cell deficiency with specific loss of the CD56(bright) subset.Q36743341
The inverted CD4/CD8 ratio and associated parameters in 66-year-old individuals: the Swedish HEXA immune studyQ36795190
Hematopoiesis is not clonal in healthy elderly women.Q36941071
High frequency of GATA2 mutations in patients with mild chronic neutropenia evolving to MonoMac syndrome, myelodysplasia, and acute myeloid leukemia.Q37023060
Feedback control of regulatory T cell homeostasis by dendritic cells in vivoQ37331528
Clinical and biological implications of driver mutations in myelodysplastic syndromesQ37334716
Acquired ASXL1 mutations are common in patients with inherited GATA2 mutations and correlate with myeloid transformationQ37552020
NK cell responses to cytomegalovirus infection lead to stable imprints in the human KIR repertoire and involve activating KIRsQ39624540
Dermal necrosis and chromosome Iq abnormality in a man with a familial myeloproliferative disorderQ40228535
The human syndrome of dendritic cell, monocyte, B and NK lymphoid deficiencyQ41821656
Phenotypic and functional separation of memory and effector human CD8+ T cellsQ42951823
Dendritic cell homeostasis is maintained by nonhematopoietic and T-cell-produced Flt3-ligand in steady state and during immune responses.Q43608868
Highly variable clinical manifestations in a large family with a novel GATA2 mutation.Q43989975
Differential cytokine/chemokines and KL-6 profiles in patients with different forms of tuberculosisQ44147801
Age-related trends in pediatric B-cell subsetsQ44305309
Flt3-ligand and granulocyte colony-stimulating factor mobilize distinct human dendritic cell subsets in vivoQ45193405
CD56brightCD16+ NK cells: a functional intermediate stage of NK cell differentiationQ45270327
FLT-3 ligand provides hematopoietic protection from total body irradiation in rabbits.Q47781791
GATA-2 anomaly and clinical phenotype of a sporadic case of lymphedema, dendritic cell, monocyte, B- and NK-cell (DCML) deficiency, and myelodysplasiaQ50027819
A new CD21low B cell population in the peripheral blood of patients with SLE.Q51997566
Transcription factor GATA-2 is required for proliferation/survival of early hematopoietic cells and mast cell formation, but not for erythroid and myeloid terminal differentiation.Q52194459
Familial Acute Myeloid Leukaemia with Acquired Pelger-Huet Anomaly and Aneuploidy of C GroupQ55178638
Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome)Q55671562
Emberger syndrome-Primary lymphedema with myelodysplasia: Report of seven new casesQ57150841
Serum Flt3 Ligand Variation as a Predictive Indicator of Hematopoietic Stem Cell MobilizationQ63384312
A family inheriting different subtypes of acute myelogenous leukemiaQ71244330
Plasma/serum levels of flt3 ligand are low in normal individuals and highly elevated in patients with Fanconi anemia and acquired aplastic anemiaQ71570774
FLT3 ligand preserves the ability of human CD34+ progenitors to sustain long-term hematopoiesis in immune-deficient mice after ex vivo retroviral-mediated transductionQ72996031
Five new pedigrees with inherited RUNX1 mutations causing familial platelet disorder with propensity to myeloid malignancyQ81820288
Marked genetic heterogeneity in familial myelodysplasia/acute myeloid leukaemiaQ83990685
Poor prognosis in familial acute myeloid leukaemia with combined biallelic CEBPA mutations and downstream events affecting the ATM, FLT3 and CDX2 genesQ84195606
P433issue6
P407language of work or nameEnglishQ1860
P304page(s)863-874
P577publication date2013-12-17
P1433published inBloodQ885070
P1476titleThe evolution of cellular deficiency in GATA2 mutation
P478volume123

Reverse relations

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