GATA2 Germline Mutations Impair GATA2 Transcription, Causing Haploinsufficiency: Functional Analysis of the p.Arg396Gln Mutation-Reference-Cited by-同舟云学术

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GATA2 Germline Mutations Impair GATA2 Transcription, Causing Haploinsufficiency: Functional Analysis of the p.Arg396Gln Mutation

Published:2015-01-26 Issue:5 Volume:194 Page:2190-2198
ISSN:0022-1767
Container-title:The Journal of Immunology
language:en
Short-container-title:J.I.

Author:

Cortés-Lavaud Xabier,Landecho Manuel F.,Maicas Miren,Urquiza Leire,Merino Juana,Moreno-Miralles Isabel,Odero María D.

Publisher

The American Association of Immunologists

Subject

Immunology,Immunology and Allergy

Reference29 articles.

1. An early haematopoietic defect in mice lacking the transcription factor GATA-2

2. The human syndrome of dendritic cell, monocyte, B and NK lymphoid deficiency

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

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

5. GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity

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1. GATA2 deficiency with early-onset interstitial pneumonia;2024-04-09

2. A novel GATA2 distal enhancer mutation results in MonoMAC syndrome in 2 second cousins;Blood Advances;2023-10-16

3. Loss of HSC stemness identity is associated with exhaustion and hyporesponsiveness in GATA2 deficiency syndrome;2023-08-07

4. Transcription factor genetics and biology in predisposition to bone marrow failure and hematological malignancy;Frontiers in Oncology;2023-06-12

5. Mutations du gène GATA2 : à propos de 3 cas;La Revue de Médecine Interne;2022-11

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