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PubMed (cited) for id: 601736
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Page 1
Specific Granule Deficiency Due To Novel Homozygote SMARCD2 Variant.
Pediatr Allergy Immunol Pulmonol. 2022 Mar;35(1):43-46. doi: 10.1089/ped.2021.0070.
Pediatr Allergy Immunol Pulmonol. 2022.
PMID: 35320004
Defective neutrophil development and specific granule deficiency caused by a homozygous splice-site mutation in SMARCD2.
Schim van der Loeff I, Sprenkeler EGG, Tool ATJ, Abinun M, Grainger A, Engelhardt KR, van Houdt M, Janssen H, Kuijpers TW, Hambleton S.
Schim van der Loeff I, et al.
J Allergy Clin Immunol. 2021 Jun;147(6):2381-2385.e2. doi: 10.1016/j.jaci.2020.11.025. Epub 2020 Dec 3.
J Allergy Clin Immunol. 2021.
PMID: 33279574
Free PMC article.
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Novel Frameshift Autosomal Recessive Loss-of-Function Mutation in SMARCD2 Encoding a Chromatin Remodeling Factor Mediates Granulopoiesis.
Yucel E, Karakus IS, Krolo A, Kiykim A, Heredia RJ, Tamay Z, Cipe FE, Karakoc-Aydiner E, Ozen A, Karaman S, Boztug K, Baris S.
Yucel E, et al.
J Clin Immunol. 2021 Jan;41(1):59-65. doi: 10.1007/s10875-020-00878-4. Epub 2020 Oct 6.
J Clin Immunol. 2021.
PMID: 33025377
Review.
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Chromatin-remodeling factor SMARCD2 regulates transcriptional networks controlling differentiation of neutrophil granulocytes.
Witzel M, Petersheim D, Fan Y, Bahrami E, Racek T, Rohlfs M, Puchałka J, Mertes C, Gagneur J, Ziegenhain C, Enard W, Stray-Pedersen A, Arkwright PD, Abboud MR, Pazhakh V, Lieschke GJ, Krawitz PM, Dahlhoff M, Schneider MR, Wolf E, Horny HP, Schmidt H, Schäffer AA, Klein C.
Witzel M, et al.
Nat Genet. 2017 May;49(5):742-752. doi: 10.1038/ng.3833. Epub 2017 Apr 3.
Nat Genet. 2017.
PMID: 28369036
Free PMC article.
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SMARCD2 subunit of SWI/SNF chromatin-remodeling complexes mediates granulopoiesis through a CEBPɛ dependent mechanism.
Priam P, Krasteva V, Rousseau P, D'Angelo G, Gaboury L, Sauvageau G, Lessard JA.
Priam P, et al.
Nat Genet. 2017 May;49(5):753-764. doi: 10.1038/ng.3812. Epub 2017 Apr 3.
Nat Genet. 2017.
PMID: 28369034
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Five SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin (SMARC) genes are dispersed in the human genome.
Ring HZ, Vameghi-Meyers V, Wang W, Crabtree GR, Francke U.
Ring HZ, et al.
Genomics. 1998 Jul 1;51(1):140-3. doi: 10.1006/geno.1998.5343.
Genomics. 1998.
PMID: 9693044
Free article.
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Diversity and specialization of mammalian SWI/SNF complexes.
Wang W, Xue Y, Zhou S, Kuo A, Cairns BR, Crabtree GR.
Wang W, et al.
Genes Dev. 1996 Sep 1;10(17):2117-30. doi: 10.1101/gad.10.17.2117.
Genes Dev. 1996.
PMID: 8804307
Free article.
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