一个信息丰富的基因内微卫星标记表明白细胞介素-1受体是囊性纤维化的一种遗传修饰因子。 - Suppr

An informative intragenic microsatellite marker suggests the IL-1 receptor as a genetic modifier in cystic fibrosis.

作者信息

Stanke Frauke, Hector Andreas, Hedtfeld Silke, Hartl Dominik, Griese Matthias, Tümmler Burkhard, Mall Marcus A

机构信息

Dept of Pediatric Pneumology, Neonatology and Allergology, Hannover Medical School, Hannover, Germany

Biomedical Research in Endstage and Obstructive Lung Disease Hannover (BREATH), German Centre for Lung Research, Hannover, Germany.

出版信息

Eur Respir J. 2017 Dec 28;50(6). doi: 10.1183/13993003.00426-2017. Print 2017 Dec.

DOI:10.1183/13993003.00426-2017

PMID:29284683

Abstract

摘要

相似文献

An informative intragenic microsatellite marker suggests the IL-1 receptor as a genetic modifier in cystic fibrosis.

Eur Respir J. 2017 Dec 28;50(6). doi: 10.1183/13993003.00426-2017. Print 2017 Dec.

Microsatellite haplotypes of Polish cystic fibrosis alleles: delta F508 chromosomes demonstrate a North-South haplotype frequency gradient.

Hum Hered. 1996 Nov-Dec;46(6):310-4. doi: 10.1159/000154370.

Diagnostic usefulness of the polymorphism of the GT dinucleotide and the polythymidine tract in intron 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

Ann Genet. 1995;38(4):202-5.

A splicing mutation in intron 16 of the cystic fibrosis transmembrane conductance regulator gene, associated with severe disease, is common on Reunion Island.

Hum Hered. 1996 May-Jun;46(3):168-71. doi: 10.1159/000154347.

Multiplex PCR combining deltaF508 mutation and intragenic microsatellites of the CFTR gene for pre-implantation genetic diagnosis (PGD) of cystic fibrosis.

Eur J Hum Genet. 2002 Apr;10(4):231-8. doi: 10.1038/sj.ejhg.5200794.

Instability of the insertional mutation in CftrTgH(neoim)Hgu cystic fibrosis mouse model.

BMC Genet. 2004 Apr 21;5:6. doi: 10.1186/1471-2156-5-6.

Genetics of Cystic Fibrosis: Clinical Implications.

Clin Chest Med. 2016 Mar;37(1):9-16. doi: 10.1016/j.ccm.2015.11.002. Epub 2015 Dec 24.

[Modifier genes and cystic fibrosis].

Arch Pediatr. 2006 Jan;13(1):57-63. doi: 10.1016/j.arcped.2005.09.029. Epub 2005 Nov 7.

What is the role of the non-coding regions of the CFTR gene in cystic fibrosis?

Expert Rev Respir Med. 2013 Aug;7(4):327-9. doi: 10.1586/17476348.2013.814404.

Cystic fibrosis mutation I1234V in a Qatari lady.

J Trop Pediatr. 2003 Feb;49(1):54-5. doi: 10.1093/tropej/49.1.54.

引用本文的文献

Genotype and transcript processing of the tumour necrosis factor receptor TNFRSF1A in epithelial cells: implications for survival in cystic fibrosis.

EBioMedicine. 2025 Jul 10;118:105848. doi: 10.1016/j.ebiom.2025.105848.

Analysis of CF patient survival confirms STAT3 as a CF-modifying gene with changing impact over time.

Hum Mol Genet. 2023 Jan 27;32(4):543-550. doi: 10.1093/hmg/ddac221.

Consistent Assignment of Risk and Benign Allele at rs2303153 in the CF Modifier Gene in Three Independent F508del- Homozygous Patient Populations.

Genes (Basel). 2021 Sep 29;12(10):1554. doi: 10.3390/genes12101554.

Epigenetics. 2022 Aug;17(8):837-860. doi: 10.1080/15592294.2021.1959976. Epub 2021 Aug 20.

Quantification of Phenotypic Variability of Lung Disease in Children with Cystic Fibrosis.

Genes (Basel). 2021 May 25;12(6):803. doi: 10.3390/genes12060803.

Cystic Fibrosis Lung Disease Modifiers and Their Relevance in the New Era of Precision Medicine.

Genes (Basel). 2021 Apr 13;12(4):562. doi: 10.3390/genes12040562.

Genetic information from discordant sibling pairs points to ESRP2 as a candidate trans-acting regulator of the CF modifier gene SCNN1B.

Sci Rep. 2020 Dec 31;10(1):22447. doi: 10.1038/s41598-020-79804-y.

Emerging Concepts and Therapies for Mucoobstructive Lung Disease.

Ann Am Thorac Soc. 2018 Nov;15(Suppl 3):S216-S226. doi: 10.1513/AnnalsATS.201806-368AW.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验

An informative intragenic microsatellite marker suggests the IL-1 receptor as a genetic modifier in cystic fibrosis.

作者信息

机构信息

出版信息

相似文献

引用本文的文献

文献AI研究员

用中文搜PubMed

文档翻译

Suppr 超能文献

相似文献

引用本文的文献