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克罗恩病中NOD2/CARD15突变的功能后果

Functional consequences of NOD2/CARD15 mutations in Crohn disease.

作者信息

Quaglietta Lucia, te Velde Anje, Staiano Annamaria, Troncone Riccardo, Hommes Daan W

机构信息

Department of Pediatrics, University Federico II, Naples, Italy.

出版信息

J Pediatr Gastroenterol Nutr. 2007 May;44(5):529-39. doi: 10.1097/MPG.0b013e31803815ee.

DOI:10.1097/MPG.0b013e31803815ee
PMID:17460484
Abstract

Crohn disease (CD) is a chronic, relapsing inflammatory disorder of the gastrointestinal tract. Its etiology remained obscure until recently, when, through an overwhelming body of research, the main theme of its origin became clear. CD develops in individuals who carry risk alleles for the disease that can cause a loss of physiological tolerance to commensal bacteria. As a consequence, immune responses develop that activate a whole range of immunocompetent cells, resulting in the secretion of proinflammatory mediators that ultimately cause mucosal breaks and the formation of ulceration, edema, and loss of proper function.

摘要

克罗恩病(CD)是一种胃肠道的慢性复发性炎症性疾病。直到最近,其病因一直不明,然而,通过大量研究,其起源的主要脉络已变得清晰。携带该疾病风险等位基因的个体易患CD,这些基因会导致对共生菌的生理耐受性丧失。结果,免疫反应发生,激活一系列免疫活性细胞,导致促炎介质分泌,最终引起黏膜破损以及溃疡、水肿的形成和正常功能丧失。

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Functional consequences of NOD2/CARD15 mutations in Crohn disease.克罗恩病中NOD2/CARD15突变的功能后果
J Pediatr Gastroenterol Nutr. 2007 May;44(5):529-39. doi: 10.1097/MPG.0b013e31803815ee.
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Clinical applications of NOD2/CARD15 mutations in Crohn's disease.NOD2/CARD15突变在克罗恩病中的临床应用
Acta Gastroenterol Latinoam. 2007 Mar;37(1):49-54.
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J Pediatr Gastroenterol Nutr. 2006 Jul;43(1):30-4. doi: 10.1097/01.mpg.0000226381.48989.f8.
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New serological markers for inflammatory bowel disease are associated with earlier age at onset, complicated disease behavior, risk for surgery, and NOD2/CARD15 genotype in a Hungarian IBD cohort.在一个匈牙利炎症性肠病队列中,炎症性肠病的新血清学标志物与发病年龄较早、疾病行为复杂、手术风险以及NOD2/CARD15基因型相关。
Am J Gastroenterol. 2008 Mar;103(3):665-81. doi: 10.1111/j.1572-0241.2007.01652.x. Epub 2007 Nov 28.
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The V249I polymorphism of the CX3CR1 gene is associated with fibrostenotic disease behavior in patients with Crohn's disease.CX3CR1基因的V249I多态性与克罗恩病患者的纤维狭窄性疾病行为相关。
Eur J Gastroenterol Hepatol. 2008 Aug;20(8):748-55. doi: 10.1097/MEG.0b013e3282f824c9.
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Prevalence of CARD15/NOD2 mutations in the Sicilian population.西西里人群中CARD15/NOD2突变的患病率。
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Identification, evolution, and association study of a novel promoter and first exon of the human NOD2 (CARD15) gene.人类NOD2(CARD15)基因一个新启动子和首个外显子的鉴定、进化及关联研究
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NOD2 mutation and mice: no Crohn's disease but many lessons to learn.NOD2突变与小鼠:无克罗恩病,但有诸多经验教训可汲取。
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CARD15/NOD2 mutations in Crohn's disease.克罗恩病中的CARD15/NOD2突变
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Epistasis between Toll-like receptor-9 polymorphisms and variants in NOD2 and IL23R modulates susceptibility to Crohn's disease.Toll样受体9多态性与NOD2和IL23R变异之间的上位性调节克罗恩病易感性。
Am J Gastroenterol. 2009 Jul;104(7):1723-33. doi: 10.1038/ajg.2009.184. Epub 2009 May 19.

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