Christopher J. Cardinale
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View article: Genome-wide association study of the age of onset of type 1 diabetes reveals HTATIP2 as a novel T cell regulator
Genome-wide association study of the age of onset of type 1 diabetes reveals HTATIP2 as a novel T cell regulator Open
Introduction Type 1 diabetes, a disorder caused by autoimmune destruction of pancreatic insulin-producing cells, is more difficult to manage when it presents at a younger age. We sought to identify genetic correlates of the age of onset by…
View article: Elevated Levels of the Cytokine LIGHT in Pediatric Crohn’s Disease
Elevated Levels of the Cytokine LIGHT in Pediatric Crohn’s Disease Open
LIGHT (homologous to lymphotoxins, exhibits inducible expression, and competes with HSV glycoprotein D for herpes virus entry mediator, a receptor expressed by T lymphocytes), encoded by the TNFSF14 gene, is a cytokine belonging to the TNF…
View article: A novel <scp><i>MBTPS2</i></scp> variant associated with <scp>BRESHECK</scp> syndrome impairs <scp>sterol‐regulated</scp> transcription and the endoplasmic reticulum stress response
A novel <span><i>MBTPS2</i></span> variant associated with <span>BRESHECK</span> syndrome impairs <span>sterol‐regulated</span> transcription and the endoplasmic reticulum stress response Open
Ichthyosis follicularis, atrichia, and photophobia syndrome (IFAP syndrome) is a rare, X‐linked disorder caused by pathogenic variants in membrane‐bound transcription factor protease, site 2 ( MBTPS2 ). Pathogenic MBTPS2 variants also caus…
View article: Elevated levels of the cytokine LIGHT in Crohn’s disease
Elevated levels of the cytokine LIGHT in Crohn’s disease Open
LIGHT, encoded by the TNFSF14 gene, is a cytokine belonging to the tumor necrosis factor superfamily. Upon binding to its receptors, HVEM and LTBR, it activates inflammatory responses. We used a single-molecule immunoassay to determine the…
View article: Regulation of Janus Kinase 2 by an Inflammatory Bowel Disease Causal Non-coding Single Nucleotide Polymorphism
Regulation of Janus Kinase 2 by an Inflammatory Bowel Disease Causal Non-coding Single Nucleotide Polymorphism Open
Background and Aims Among the >240 genetic loci described to date which confer susceptibility to inflammatory bowel disease, a small subset have been fine-mapped to an individual, non-coding single nucleotide polymorphism [SNP]. To illu…
View article: Multiple Epistasis Interactions Within MHC Are Associated With Ulcerative Colitis
Multiple Epistasis Interactions Within MHC Are Associated With Ulcerative Colitis Open
Successful searching for epistasis is much challenging, which generally requires very large sample sizes and/or very dense marker information. We exploited the largest Crohn's disease (CD) dataset (18,000 cases + 34,000 controls) and ulcer…
View article: Functional characterization of DcR3 in EBV transformed cell lines from IBD patients of different allelic background and role in disease pathogenesis
Functional characterization of DcR3 in EBV transformed cell lines from IBD patients of different allelic background and role in disease pathogenesis Open
Objectives:We have previously demonstrated association of the TNF Receptor Superfamily 6B gene (TNFRSF6B) encoding for DcR3, with Inflammatory Bowel Disease (IBD).Here we investigate the possible immuno-modulation mediated by DcR3 in EBV t…
View article: Pathway-based Genome-wide Association Studies Reveal the Association Between Growth Factor Activity and Inflammatory Bowel Disease
Pathway-based Genome-wide Association Studies Reveal the Association Between Growth Factor Activity and Inflammatory Bowel Disease Open
Our findings suggest that genes involved in pathways of growth factor signaling may make joint contributions to the etiology of CD and UC, providing novel insight into the genetic mechanisms of these diseases.
View article: Additional file 1: Table S1. of Association of a rare NOTCH4 coding variant with systemic sclerosis: a family-based whole exome sequencing study
Additional file 1: Table S1. of Association of a rare NOTCH4 coding variant with systemic sclerosis: a family-based whole exome sequencing study Open
Table of rare coding variants segregating with the SSc/scleroderma phenotype. (XLS 27 kb)