NDLI: Novel Missense Mutation in the NOD2 Gene in a Patient with Early Onset Ulcerative Colitis: Causal or Chance Association?

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Application of Computational Methods for the Design of BACE-1 Inhibitors: Validation of in Silico Modelling

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Correction: Zainalabdeen, N., et al., Synthesis and Characterization of Naphthalenediimide-Functionalized Flavin Derivatives. Int. J. Mol. Sci. 2013, 14, 7468–7479.

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Novel Missense Mutation in the NOD2 Gene in a Patient with Early Onset Ulcerative Colitis: Causal or Chance Association?

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Interactive Association of Drugs Binding to Human Serum Albumin

Transport of Glial Cell Line-Derived Neurotrophic Factor into Liposomes across the Blood-Brain Barrier: In Vitro and in Vivo Studies

Non-Specific Inhibition of Ischemia- and Acidosis-Induced Intracellular Calcium Elevations and Membrane Currents by α-Phenyl-N-tert-butylnitrone, Butylated Hydroxytoluene and Trolox

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HBx Protein Promotes Oval Cell Proliferation by Up-Regulation of Cyclin D1 via Activation of the MEK/ERK and PI3K/Akt Pathways

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Acknowledgement to Reviewers of International Journal of Molecular Sciences 2013

Genistein-Inhibited Cancer Stem Cell-Like Properties and Reduced Chemoresistance of Gastric Cancer

Novel Missense Mutation in the NOD2 Gene in a Patient with Early Onset Ulcerative Colitis: Causal or Chance Association?

Content Provider	MDPI
Author	Girardelli, Martina Vuch, Josef Tommasini, Alberto Crovella, Sergio Bianco, Anna
Abstract	Deregulated immune response to gut microflora in genetically predisposed individuals is typical for inflammatory bowel diseases. It is reasonable to assume that genetic association with the disease will be more pronounced in subjects with early onset than adult onset. The nucleotide-binding oligomerization domain containing-2 gene, commonly involved in multifactorial risk of Crohn’s disease, and interleukin 10 receptor genes, associated with rare forms of early onset inflammatory bowel diseases, were sequenced in an early onset patient. We identified a novel variant in the NOD2 gene (c.2857A > G p.K953E) and two already described missense variants in the IL10RA gene (S159G and G351R). The new NOD2 missense variant was examined in silico with two online bioinformatics tools to predict the potentially deleterious effects of the mutation. Although cumulative effect of these variations in the early onset of the disease can be only hypothesized, we demonstrated that family information and in silico studies can be used to predict association with the disease.
File Size	249856
Ending Page	3841
Page Count	8
Starting Page	3834
File Format	PDF
e-ISSN	14220067
DOI	10.3390/ijms15033834
Journal	International Journal of Molecular Sciences
Issue Number	3
Volume Number	15
Language	English
Publisher Date	2014-03-03
Access Restriction	Open
Subject Keyword	complex disease digenic heterozygosis early onset-inflammatory bowel disease IL10R NOD2
Content Type	Text
Resource Type	Article

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