Defective neutrophil development and specific granule deficiency caused by a homozygous splice-site mutation in SMARCD2-Reference-Cited by-同舟云学术

Defective neutrophil development and specific granule deficiency caused by a homozygous splice-site mutation in SMARCD2

Published:2021-06 Issue:6 Volume:147 Page:2381-2385.e2
ISSN:0091-6749
Container-title:Journal of Allergy and Clinical Immunology
language:en
Short-container-title:Journal of Allergy and Clinical Immunology

Author:

Schim van der Loeff Ina,Sprenkeler Evelien G.G.,Tool Anton T.J.,Abinun Mario,Grainger Angela,Engelhardt Karin R.,van Houdt Michel,Janssen Hans,Kuijpers Taco W.,Hambleton Sophie^ORCID

Funder

Wellcome Trust

Horizon 2020

Sir Jules Thorn Charitable Trust

National Institute for Health Research

Publisher

Elsevier BV

Subject

Immunology,Immunology and Allergy

Reference11 articles.

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2. Neutrophil-specific granule deficiency: homozygous recessive inheritance of a frameshift mutation in the gene encoding transcription factor CCAAT/enhancer binding protein--epsilon;Gombart;Blood,2001

3. Chromatin-remodeling factor SMARCD2 regulates transcriptional networks controlling differentiation of neutrophil granulocytes;Witzel;Nat Genet,2017

4. SMARCD2 subunit of SWI/SNF chromatin-remodeling complexes mediates granulopoiesis through a CEBPε dependent mechanism;Priam;Nat Genet,2017

5. Dynamics of transcription regulation in human bone marrow myeloid differentiation to mature blood neutrophils;Grassi;Cell Rep,2018

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