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A M55V Polymorphism in a Novel SUMO Gene (SUMO-4) Differentially Activates Heat Shock Transcription Factors and Is Associated with Susceptibility to Type I Diabetes Mellitus*
The identification of a novel intronless SUMO gene, SUMO-4, that encodes a 95-amino acid protein having an 86% amino acid homology withsumO-2, which is associated with type I diabetes mellitus susceptibility in families and suggests that it may be involved in the pathogenesis of type Iabetes. Expand
A proline-90 residue unique to SUMO-4 prevents maturation and sumoylation.
The maturation process of SUMO-4 to active form containing C-terminal di-glycine residues is inhibited by a unique proline residue located at position 90 (Pro-90), which appears to be unable to form covalent isopeptide bonds with substrates. Expand
Clinical review 56: Nonclassic adrenal hyperplasia: current concepts.
HLA-D region β-chain DNA endonuclease fragments differ between HLA-DR identical healthy and insulin-dependent diabetic individuals
The β-chain cDNA probe, pDR-β-1, is used to test whether there are differences in hybridization pattern between DNA from healthy individuals and diabetic patients, after digestion with restriction endonucleases, among the HLA-DR 4 and 3/4 individuals. Expand
Direct analysis of CYP21B genes in 21-hydroxylase deficiency using polymerase chain reaction amplification.
Gene deletion of CYP21B, gene conversion of the entire CYP23A gene to CYP22A, frame shift mutations in exon 3, an intron 2 mutation that causes abnormal RNA splicing, and a mutation leading to a stop codon in ex on 8 appear to be the major abnormalities of the CYP 21B gene in patients. Expand
Localization of a Type I Diabetes Susceptibility Locus to the Variable Tandem Repeat Region Flanking the Insulin Gene
It is suggested that the type I diabetes susceptibility locus on chromosome 11p15.5 is probably located in the 5′ variable tandem repeat region rather than in the 3′ region of the insulin gene. Expand
Primary Association of HLA-DQw8 With Type I Diabetes in DR4 Patients
The DQ region appears to provide the primary major histocompatibility association with type I diabetes in most DR4 patients. Expand
The Search for IDDM Susceptibility Genes: The Next Generation
The lengthy and protracted studies to prove the linkage and identity of the susceptibility genes in the HLA and insulin gene regions provide a perspective and background for understanding the complexities and time course for characterization of the putative additional IDDM susceptibility genes uncovered by genome searches. Expand
Analysis of Candidate Genes for Susceptibility to Type I Diabetes: A Case-Control and Family-Association Study of Genes on Chromosome 2q31–35
Several previously unknown DNA polymorphisms for HOXD8, BETA2, and IGFBP5 are reported, which are used along with previously known polymorphisms of H0xD8 and CTLA4 to test whether these candidate loci are the susceptibility genes on chromosome 2q31–35, and there is no evidence that these candidate genes are associated with susceptibility to type I diabetes. Expand
Inheritance of a parotid secretory protein in mice and its use in determining salivary amylase quantitative variants.
The protein ratios between amylase and PSP in saliva, obtained by scanning of electrophoretic gel separations, were found to reflect genetic differences in salivary amyl enzyme production in strains YBR/Cv and C3H/As. Expand