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Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease
Crohn's disease and ulcerative colitis, the two main types of chronic inflammatory bowel disease, are multifactorial conditions of unknown aetiology. A susceptibility locus for Crohn's disease hasExpand
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CARD15/NOD2 mutational analysis and genotype-phenotype correlation in 612 patients with inflammatory bowel disease.
CARD15/NOD2 encodes a protein involved in bacterial recognition by monocytes. Mutations in CARD15 have recently been found in patients with Crohn disease (CD), a chronic inflammatory condition of theExpand
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CARD15 mutations in Blau syndrome
We have identified three missense mutations in the nucleotide-binding domain (NBD) of CARD15/NOD2 in four French and German families with Blau syndrome. Our findings indicate that, in addition toExpand
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Familial hyperglycemia due to mutations in glucokinase. Definition of a subtype of diabetes mellitus.
BACKGROUND AND METHODS Non-insulin-dependent diabetes mellitus (NIDDM) is a genetically heterogeneous disorder. Maturity-onset diabetes of the young, a form of NIDDM with an early age of onset andExpand
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Close linkage of glucokinase locus on chromosome 7p to early-onset non-insulin-dependent diabetes mellitus
Nature 356, 162-164 (1992) THE following was omitted from the Acknowledgements section of this Letter: "This work was supported in part by a NIH grant to M.A.P. Y.T. was a recipient of a mentor basedExpand
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Nonsense mutation in the glucokinase gene causes early-onset non-insulin-dependent diabetes mellitus
MATURITY-ONSET diabetes of the young (MODY) is a form of non-insulin-dependent (type 2) diabetes mellitus (NIDDM) which is characterized by an early age at onset and an autosomal dominant mode ofExpand
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Card15 gene overexpression in mononuclear and epithelial cells of the inflamed Crohn’s disease colon
Background: Crohn’s disease is one of the principal human chronic inflammatory bowel diseases. Although its aetiology is still unknown, its complex pathogenesis has environmental, immunological, andExpand
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Gene–environment interaction modulated by allelic heterogeneity in inflammatory diseases
CARD15 is a major susceptibility gene for a frequent multifactorial chronic inflammatory bowel disorder, Crohn disease (CD). By using NF-κB activation assays, the cytosolic CARD15 was shown toExpand
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Human glucokinase gene: isolation, characterization, and identification of two missense mutations linked to early-onset non-insulin-dependent (type 2) diabetes mellitus.
DNA polymorphisms in the glucokinase gene have recently been shown to be tightly linked to early-onset non-insulin-dependent diabetes mellitus in approximately 80% of French families with this formExpand
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Close linkage of glucokinase locus on chromosome 7p to early-onset non-insulin-dependent diabetes mellitus
NON-INSULIN-DEPENDENT diabetes mellitus (NIDDM) is a major health problem, affecting 5% of the world population. Genetic factors are important in NIDDM, but the mechanisms leading to glucoseExpand
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