Lack of Association Between NOD2 3020InsC Frameshift Mutation and Psoriasis

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The NOD2 3020insC mutation and the risk of colorectal cancer.

Several predispositions to colorectal cancer have been identified, but little is known about genetic susceptibilities to disease in older persons. Colorectal cancer is a risk in Crohn's disease and is believed to be associated with an inappropriate inflammatory response. Recently, the NOD2 gene has been associated with Crohn's disease, which further strengthens the notion that the inflammatory ...

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The 3020insC NOD2 gene mutation in patients with ovarian cancer.

OBJECTIVE There is an increasing evidence that genetic factors play a role in the etiology of malignant tumors. Mutations of BRCA1 and BRCA2 genes are responsible for an increased risk of ovarian cancer. The role of mutations in NOD2 gene in this type of neoplasm is still under investigation. THE AIM The aim of this study was to determine: 1. incidence of NOD 2 3020insC constitutional mutatio...

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The NOD2 3020insC Mutation and The Risk of Familial Pancreatic Cancer?

1Inter-University Unit of Molecular Biology, University of Szczecin and Pomeranian Medical University, Szczecin, Poland; 2Department of Surgery, Philipps-University, Marburg, Germany; 3Institute of Clinical Genetics, Philipps-University, Marburg, Germany; 4Department of Internal Medicine, Hospital Langendreer, Ruhr-University, Bochum, Germany; 5International Hereditary Cancer Center, Department...

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Impaired dendritic cell function in Crohn's disease patients with NOD2 3020insC mutation.

The nucleotide oligomerization domain 2 (NOD2) 3020insC (NOD2fs) mutation increases susceptibility to Crohn's disease (CD), but the mechanism remains controversial. Loss-of-function and gain-of-function phenotypes have been described as a result of NOD2fs. Here, we show that dendritic cells (DC) derived from CD patients homozygous for this mutation respond normally to purified Toll-like recepto...

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Lack of Association between ctla-4 A49G Polymorphism and Vitiligo

Background: Vitiligo is an acquired skin disorder that selectively destroys melanocytes in epidermis with an unknown etiology.   Objective: To investigate the exon 1 A49G polymorphism of cytotoxic T lymphocyte antigen-4 (ctla-4) gene in vitiligo patients.   Methods: The A49G polymorphism was detected by Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) method in 101...

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ژورنال

عنوان ژورنال: Journal of Investigative Dermatology

سال: 2001

ISSN: 0022-202X

DOI: 10.1046/j.0022-202x.2001.01620.x