GATA2 haploinsufficiency caused by mutations in a conserved intronic element leads to MonoMAC syndrome - Wikidata - awgldk - TriplyDB

GATA2 haploinsufficiency caused by mutations in a conserved intronic element leads to MonoMAC syndrome

GATA2 haploinsufficiency caused by mutations in a conserved intronic element leads to MonoMAC syndrome

http://www.wikidata.org/entity/Q28704337

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Mendelian genetics of human susceptibility to fungal infection GATA factor mutations in hematologic disease.Recurrent and Sustained Viral Infections in Primary Immunodeficiencies.Conservation in first introns is positively associated with the number of exons within genes and the presence of regulatory epigenetic signals Molecular basis of crosstalk between oncogenic Ras and the master regulator of hematopoiesis GATA-2 Genomic analysis of bone marrow failure and myelodysplastic syndromes reveals phenotypic and diagnostic complexity GATA2 deficiency-associated bone marrow disorder differs from idiopathic aplastic anemia.Mutational spectrum of myeloid malignancies with inv(3)/t(3;3) reveals a predominant involvement of RAS/RTK signaling pathways.Diffuse parenchymal lung disease as first clinical manifestation of GATA-2 deficiency in childhood.GATA2 deficiency.Spectrum of myeloid neoplasms and immune deficiency associated with germline GATA2 mutations.Inherited and acquired immunodeficiencies underlying tuberculosis in childhood.Haematopoietic and immune defects associated with GATA2 mutation.Epigenetic Determinants of Erythropoiesis: Role of the Histone Methyltransferase SetD8 in Promoting Erythroid Cell Maturation and Survival GATA2 deficiency in children and adults with severe pulmonary alveolar proteinosis and hematologic disorders.Evolutionary context for the association of γ-globin, serum uric acid, and hypertension in African Americans.Cis-regulatory mechanisms governing stem and progenitor cell transitions Genomic analysis of germ line and somatic variants in familial myelodysplasia/acute myeloid leukemia.A genetic perspective on granulomatous diseases with an emphasis on mycobacterial infections.GATA Factor-G-Protein-Coupled Receptor Circuit Suppresses Hematopoiesis.Functional and molecular characterization of mouse Gata2-independent hematopoietic progenitors Mutations in GATA2 cause human NK cell deficiency with specific loss of the CD56(bright) subset.Applications of high-throughput DNA sequencing to benign hematology 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 mutation Mechanism governing a stem cell-generating cis-regulatory element.Gene hunting in the genomic era: approaches to diagnostic dilemmas in patients with primary immunodeficiencies Integrating massively parallel sequencing into diagnostic workflows and managing the annotation and clinical interpretation challenge.Enhancer biology and enhanceropathies.Epigenetic and genetic mechanisms in red cell biology.Hematopoietic transcriptional mechanisms: from locus-specific to genome-wide vantage points.Eukaryotic enhancers: common features, regulation, and participation in diseases.The GATA factor revolution in hematology.Genomics of Immune Diseases and New Therapies.Understanding chronic neutropenia: life is short.Review: Aberrant EVI1 expression in acute myeloid leukaemia.Adaptive NK cells can persist in patients with GATA2 mutation depleted of stem and progenitor cells Epigenetic regulation of GATA2 and its impact on normal karyotype acute myeloid leukemia.Acquired Senescent T-Cell Phenotype Correlates with Clinical Severity in GATA Binding Protein 2-Deficient Patients.

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GATA2 haploinsufficiency caused by mutations in a conserved intronic element leads to MonoMAC syndrome

http://www.wikidata.org/entity/Q28704337

description

2013 nî lūn-bûn

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2013 թուականի Մայիսին հրատարակուած գիտական յօդուած

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2013 թվականի մայիսին հրատարակված գիտական հոդված

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2013年の論文

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GATA2 haploinsufficiency cause ...... ment leads to MonoMAC syndrome

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GATA2 haploinsufficiency cause ...... ment leads to MonoMAC syndrome

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GATA2 haploinsufficiency cause ...... ment leads to MonoMAC syndrome

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GATA2 haploinsufficiency cause ...... ment leads to MonoMAC syndrome

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GATA2 haploinsufficiency cause ...... ment leads to MonoMAC syndrome

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GATA2 haploinsufficiency cause ...... ment leads to MonoMAC syndrome

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GATA2 haploinsufficiency cause ...... ment leads to MonoMAC syndrome

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GATA2 haploinsufficiency cause ...... ment leads to MonoMAC syndrome

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GATA2 haploinsufficiency cause ...... ment leads to MonoMAC syndrome

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GATA2 haploinsufficiency cause ...... ment leads to MonoMAC syndrome

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Christa S Zerbe

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Dennis D Hickstein

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E Liana Falcone

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Emery H Bresnick

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Jacob E Lemieux

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Jennifer Cuellar-Rodriguez

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Kirby D Johnson

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Rajendran Sanalkumar

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Steven M Holland

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P2860

The UCSC Genome Browser database: update 2011

Autosomal dominant and sporadic monocytopenia with susceptibility to mycobacteria, fungi, papillomaviruses, and myelodysplasia

Structure of the leukemia oncogene LMO2: implications for the assembly of a hematopoietic transcription factor complex

A method and server for predicting damaging missense mutations

Discovering hematopoietic mechanisms through genome-wide analysis of GATA factor chromatin occupancy

The timing of eukaryotic evolution: does a relaxed molecular clock reconcile proteins and fossils?

Gata2, Fli1, and Scl form a recursively wired gene-regulatory circuit during early hematopoietic development

Molecular hallmarks of endogenous chromatin complexes containing master regulators of hematopoiesis

Haploinsufficiency of GATA-2 perturbs adult hematopoietic stem-cell homeostasis

TM4: a free, open-source system for microarray data management and analysis

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3830-7, S1-7

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10.1182/BLOOD-2012-08-452763

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19

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121

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Lauren A Sanchez

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2013-03-15T00:00:00Z

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236055509

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23502222

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haploinsufficiency

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3650705

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