SNAP29、LZTR1和P2RXL1基因在一名22q11.2区域存在非典型0.5 Mb缺失患者的免疫调节中的作用。 - Suppr

Role of SNAP29, LZTR1 and P2RXL1 genes on immune regulation in a patient with atypical 0.5 Mb deletion in 22q11.2 region.

作者信息

de Queiroz Soares Diogo Cordeiro, Dutra Roberta Lelis, D'angioli Costa Quaio Caio Robledo, Melaragno Maria Isabel, Kulikowski Leslie Domenici, Torres Leuridan Cavalcante, Kim Chong Ae

出版信息

Clin Immunol. 2012 Oct;145(1):55-8. doi: 10.1016/j.clim.2012.07.013. Epub 2012 Aug 6.

DOI:10.1016/j.clim.2012.07.013

PMID:22926078

Abstract

摘要

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Role of SNAP29, LZTR1 and P2RXL1 genes on immune regulation in a patient with atypical 0.5 Mb deletion in 22q11.2 region.

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引用本文的文献

How to use a multipurpose SNARE: The emerging role of Snap29 in cellular health.

Cell Stress. 2018 Mar 22;2(4):72-81. doi: 10.15698/cst2018.04.130.

Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS.

J Med Genet. 2013 Feb;50(2):80-90. doi: 10.1136/jmedgenet-2012-101320. Epub 2012 Dec 11.

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Role of SNAP29, LZTR1 and P2RXL1 genes on immune regulation in a patient with atypical 0.5 Mb deletion in 22q11.2 region.

Clin Immunol. 2012 Oct;145(1):55-8. doi: 10.1016/j.clim.2012.07.013. Epub 2012 Aug 6.

Immunologic defects in 22q11.2 deletion syndrome.

J Allergy Clin Immunol. 2008 Aug;122(2):362-7, 367.e1-4. doi: 10.1016/j.jaci.2008.03.033. Epub 2008 May 16.

Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS.

J Med Genet. 2013 Feb;50(2):80-90. doi: 10.1136/jmedgenet-2012-101320. Epub 2012 Dec 11.

A 39-year-old father is diagnosed in adulthood as having partial DiGeorge anomaly with a combined T- and B-cell immunodeficiency after diagnosis of the condition in his daughter.

Ann Allergy Asthma Immunol. 2008 Jun;100(6):620-1. doi: 10.1016/S1081-1206(10)60066-X.

mutant mice recapitulate neurological and ophthalmological abnormalities associated with 22q11 and CEDNIK syndrome.

Commun Biol. 2019 Oct 11;2:375. doi: 10.1038/s42003-019-0601-5. eCollection 2019.

Association between polymorphism of the SNAP29 gene promoter region and schizophrenia.

Schizophr Res. 2005 Oct 15;78(2-3):339-41. doi: 10.1016/j.schres.2005.03.023.

Patient with a 22q11.2 deletion with no overlap of the minimal DiGeorge syndrome critical region (MDGCR).

Am J Med Genet. 1999 Sep 3;86(1):27-33.

The immune deficiency of chromosome 22q11.2 deletion syndrome.

Am J Med Genet A. 2017 Sep;173(9):2366-2372. doi: 10.1002/ajmg.a.38319. Epub 2017 Jun 19.

Inherited t(9;22) as the cause of DiGeorge syndrome: a case report.

Malays J Pathol. 2009 Dec;31(2):133-6.

A prospective study of influenza vaccination and a comparison of immunologic parameters in children and adults with chromosome 22q11.2 deletion syndrome (digeorge syndrome/velocardiofacial syndrome).

J Clin Immunol. 2011 Dec;31(6):927-35. doi: 10.1007/s10875-011-9569-8. Epub 2011 Aug 24.

引用本文的文献

How to use a multipurpose SNARE: The emerging role of Snap29 in cellular health.

Cell Stress. 2018 Mar 22;2(4):72-81. doi: 10.15698/cst2018.04.130.

Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS.

J Med Genet. 2013 Feb;50(2):80-90. doi: 10.1136/jmedgenet-2012-101320. Epub 2012 Dec 11.

Role of SNAP29, LZTR1 and P2RXL1 genes on immune regulation in a patient with atypical 0.5 Mb deletion in 22q11.2 region.

作者信息

de Queiroz Soares Diogo Cordeiro, Dutra Roberta Lelis, D'angioli Costa Quaio Caio Robledo, Melaragno Maria Isabel, Kulikowski Leslie Domenici, Torres Leuridan Cavalcante, Kim Chong Ae

出版信息

Clin Immunol. 2012 Oct;145(1):55-8. doi: 10.1016/j.clim.2012.07.013. Epub 2012 Aug 6.

DOI:10.1016/j.clim.2012.07.013

PMID:22926078

Abstract

摘要

Role of SNAP29, LZTR1 and P2RXL1 genes on immune regulation in a patient with atypical 0.5 Mb deletion in 22q11.2 region.

作者信息

出版信息

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Role of SNAP29, LZTR1 and P2RXL1 genes on immune regulation in a patient with atypical 0.5 Mb deletion in 22q11.2 region.

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