scholarly article | Q13442814 |
P50 | author | John Dick | Q6229356 |
Magnus Gottfredsson | Q37371860 | ||
Gideon M. Hirschfield | Q37829929 | ||
Yenan Bryceson | Q40448764 | ||
Mikko Seppänen | Q42276109 | ||
Naomi Mcgovern | Q42762867 | ||
Stephen Jolles | Q43122863 | ||
Eleonora Gambineri | Q43300293 | ||
Venetia Bigley | Q55473581 | ||
Chris M Bacon | Q56434360 | ||
Sasan Zandi | Q58329566 | ||
James E Thaventhiran | Q60706508 | ||
Alexander Langridge | Q63969345 | ||
Muzlifah Haniffa | Q65560182 | ||
Sophie Hambleton | Q87744473 | ||
Josef T Prchal | Q88569926 | ||
Andrew R Gennery | Q89004572 | ||
Laura Jardine | Q91652149 | ||
Sarah Pagan | Q125260797 | ||
P2093 | author name string | Rachel 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 | |||
P2860 | cites work | Ligand for FLT3/FLK2 receptor tyrosine kinase regulates growth of haematopoietic stem cells and is encoded by variant RNAs | Q24310069 |
Autosomal dominant and sporadic monocytopenia with susceptibility to mycobacteria, fungi, papillomaviruses, and myelodysplasia | Q24634431 | ||
Two subsets of memory T lymphocytes with distinct homing potentials and effector functions | Q28146072 | ||
Biochemical and genetic characterization of multiple splice variants of the Flt3 ligand | Q28587182 | ||
Haploinsufficiency of GATA-2 perturbs adult hematopoietic stem-cell homeostasis | Q28587266 | ||
GATA2 haploinsufficiency caused by mutations in a conserved intronic element leads to MonoMAC syndrome | Q28704337 | ||
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 phenotypes | Q30543634 | ||
Mice lacking flt3 ligand have deficient hematopoiesis affecting hematopoietic progenitor cells, dendritic cells, and natural killer cells | Q30873503 | ||
NK cell terminal differentiation: correlated stepwise decrease of NKG2A and acquisition of KIRs | Q33654187 | ||
Levels of soluble CD40 ligand (CD154) in serum are increased in human immunodeficiency virus type 1-infected patients and correlate with CD4(+) T-cell counts | Q33943382 | ||
Antimicrobial activity of mucosal-associated invariant T cells | Q34022899 | ||
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 implications | Q35143513 | ||
Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia | Q35249294 | ||
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 vasculature | Q35750366 | ||
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 mispatterning | Q36290250 | ||
Cis-element mutated in GATA2-dependent immunodeficiency governs hematopoiesis and vascular integrity | Q36290255 | ||
CD8 T cells express randomly selected KIRs with distinct specificities compared with NK cells | Q36352518 | ||
GATA-2 plays two functionally distinct roles during the ontogeny of hematopoietic stem cells | Q36403822 | ||
Preventing preterm births: analysis of trends and potential reductions with interventions in 39 countries with very high human development index | Q36611197 | ||
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 study | Q36795190 | ||
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 vivo | Q37331528 | ||
Clinical and biological implications of driver mutations in myelodysplastic syndromes | Q37334716 | ||
Acquired ASXL1 mutations are common in patients with inherited GATA2 mutations and correlate with myeloid transformation | Q37552020 | ||
NK cell responses to cytomegalovirus infection lead to stable imprints in the human KIR repertoire and involve activating KIRs | Q39624540 | ||
Dermal necrosis and chromosome Iq abnormality in a man with a familial myeloproliferative disorder | Q40228535 | ||
The human syndrome of dendritic cell, monocyte, B and NK lymphoid deficiency | Q41821656 | ||
Phenotypic and functional separation of memory and effector human CD8+ T cells | Q42951823 | ||
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 tuberculosis | Q44147801 | ||
Age-related trends in pediatric B-cell subsets | Q44305309 | ||
Flt3-ligand and granulocyte colony-stimulating factor mobilize distinct human dendritic cell subsets in vivo | Q45193405 | ||
CD56brightCD16+ NK cells: a functional intermediate stage of NK cell differentiation | Q45270327 | ||
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 myelodysplasia | Q50027819 | ||
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 Group | Q55178638 | ||
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 cases | Q57150841 | ||
Serum Flt3 Ligand Variation as a Predictive Indicator of Hematopoietic Stem Cell Mobilization | Q63384312 | ||
A family inheriting different subtypes of acute myelogenous leukemia | Q71244330 | ||
Plasma/serum levels of flt3 ligand are low in normal individuals and highly elevated in patients with Fanconi anemia and acquired aplastic anemia | Q71570774 | ||
FLT3 ligand preserves the ability of human CD34+ progenitors to sustain long-term hematopoiesis in immune-deficient mice after ex vivo retroviral-mediated transduction | Q72996031 | ||
Five new pedigrees with inherited RUNX1 mutations causing familial platelet disorder with propensity to myeloid malignancy | Q81820288 | ||
Marked genetic heterogeneity in familial myelodysplasia/acute myeloid leukaemia | Q83990685 | ||
Poor prognosis in familial acute myeloid leukaemia with combined biallelic CEBPA mutations and downstream events affecting the ATM, FLT3 and CDX2 genes | Q84195606 | ||
P433 | issue | 6 | |
P407 | language of work or name | English | Q1860 |
P304 | page(s) | 863-874 | |
P577 | publication date | 2013-12-17 | |
P1433 | published in | Blood | Q885070 |
P1476 | title | The evolution of cellular deficiency in GATA2 mutation | |
P478 | volume | 123 |
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Q40656859 | Acute lymphoblastic leukemia in a patient with MonoMAC syndrome/GATA2 haploinsufficiency |
Q38956465 | Adaptive NK cells can persist in patients with GATA2 mutation depleted of stem and progenitor cells |
Q48504653 | Allogeneic Hematopoietic Stem-Cell Transplantation for GATA2 Deficiency Using a Busulfan-Based Regimen. |
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Q40165095 | Altered chemotactic response to CXCL12 in patients carrying GATA2 mutations |
Q33417357 | Autoimmune and other cytopenias in primary immunodeficiencies: pathomechanisms, novel differential diagnoses, and treatment |
Q41990601 | Autoimmunity/inflammation in a monogenic primary immunodeficiency cohort |
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Q26739239 | Bone Marrow Immunity and Myelodysplasia |
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Q47136225 | Case Report of an Adolescent Male With Unexplained Pancytopenia: GATA2-Associated Bone Marrow Failure and Genetic Testing |
Q35161496 | Circulating precursors of human CD1c+ and CD141+ dendritic cells |
Q36276945 | Cis-regulatory mechanisms governing stem and progenitor cell transitions |
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Q52597254 | Differential effects on gene transcription and hematopoietic differentiation correlate with GATA2 mutant disease phenotypes. |
Q35122462 | Diffuse parenchymal lung disease as first clinical manifestation of GATA-2 deficiency in childhood. |
Q27003187 | Discovery of single-gene inborn errors of immunity by next generation sequencing |
Q61627910 | Disruption of an antimycobacterial circuit between dendritic and helper T cells in human SPPL2a deficiency |
Q90627999 | Emerging insights into human health and NK cell biology from the study of NK cell deficiencies |
Q38759271 | Exome sequencing identifies highly recurrent somatic GATA2 and CEBPA mutations in acute erythroid leukemia |
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Q59789119 | GATA2 deficiency and human hematopoietic development modeled using induced pluripotent stem cells |
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Q34802461 | GATA2 deficiency-associated bone marrow disorder differs from idiopathic aplastic anemia. |
Q35127953 | GATA2 deficiency. |
Q64108064 | GATA2 hypomorphism induces chronic myelomonocytic leukemia in mice |
Q64939397 | GATA2 mutation in long stand Mycobacterium kansasii infection, myelodysplasia and MonoMAC syndrome: a case-report. |
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Q40331582 | Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms |
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Q28263427 | Hematopoietic Signaling Mechanism Revealed from a Stem/Progenitor Cell Cistrome |
Q55313085 | Herpetic ocular manifestations in a patient with GATA2 deficiency. |
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