Mutational profiling of a MonoMAC syndrome family with GATA2 deficiency. - Wikidata - awgldk - TriplyDB

Mutational profiling of a MonoMAC syndrome family with GATA2 deficiency.

Mutational profiling of a MonoMAC syndrome family with GATA2 deficiency.

http://www.wikidata.org/entity/Q37559777

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Heterogeneity of GATA2-related myeloid neoplasms.Differential effects on gene transcription and hematopoietic differentiation correlate with GATA2 mutant disease phenotypes.Acute myeloid leukemia with 3q26 abnormality: An editorial perspective.Bacille Calmette–Guerin Complications in Newly Described Primary Immunodeficiency Diseases: 2010–2017.

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Mutational profiling of a MonoMAC syndrome family with GATA2 deficiency.

http://www.wikidata.org/entity/Q37559777

description

article científic

@ca

article scientifique

@fr

articolo scientifico

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artigo científico

@pt

bilimsel makale

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scientific article published on 29 September 2016

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vedecký článok

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vetenskaplig artikel

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videnskabelig artikel

@da

vědecký článek

@cs

name

Mutational profiling of a MonoMAC syndrome family with GATA2 deficiency.

@en

Mutational profiling of a MonoMAC syndrome family with GATA2 deficiency.

@nl

type

label

Mutational profiling of a MonoMAC syndrome family with GATA2 deficiency.

@en

Mutational profiling of a MonoMAC syndrome family with GATA2 deficiency.

@nl

prefLabel

Mutational profiling of a MonoMAC syndrome family with GATA2 deficiency.

@en

Mutational profiling of a MonoMAC syndrome family with GATA2 deficiency.

@nl

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Mutational profiling of a MonoMAC syndrome family with GATA2 deficiency.

@en

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H P Koeffler

http://www.w3.org/2001/XMLSchema#string

H Yang

http://www.w3.org/2001/XMLSchema#string

K-T Tan

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M Lill

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M Mori

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T Ikezoe

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W Chien

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Y-Y Jiang

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P2860

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

Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency.

Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome.

Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia.

Haematopoietic and immune defects associated with GATA2 mutation.

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

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 mutation

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244-245

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scholarly article

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10.1038/LEU.2016.256

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1

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31

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Anand Mayakonda

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2016-09-29T00:00:00Z

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27680514

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5214977

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