12 datasets found
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Federal
Two novel frame shift, recurrent and
U.S. Department of Health & Human Services —
We have identified four different mutations causing leukocyte adhesion deficiency (LAD) in the ITGB2 gene of patients from a highly inbred population. Two were novel... -
Federal
Phylogenetic variation and polymorphism at the Toll-like receptor 4 locus (
U.S. Department of Health & Human Services —
Background: Differences in responses to bacterial surface lipopolysaccharides (LPSs) are apparent between and within mammalian species. It has been shown in mice that... -
Federal
Genetic determinants of mammographic density
U.S. Department of Health & Human Services —
Background Changes in breast density are highly correlated with steroid hormone exposure. Materials and methods In a cross-sectional study of 396 Caucasian and... -
Federal
Investigation of glutathione
U.S. Department of Health & Human Services —
Background Certain genes from the glutathione S-transferase superfamily have been associated with several cancer types. It was the objective of this study to... -
Federal
An examination of the Apo-1/Fas promoter Mva I polymorphism in Japanese patients with multiple sclerosis
U.S. Department of Health & Human Services —
Background The Apo-1/Fas (CD95) molecule is an apoptosis-signaling cell surface receptor belonging to the tumor necrosis factor (TNF) receptor family. Both Fas and... -
Federal
The vitamin D receptor polymorphism in the translation initiation codon is a risk factor for insulin resistance in glucose tolerant Caucasians
U.S. Department of Health & Human Services —
Background Although vitamin D receptor (VDR) polymorphisms have been shown to be associated with abnormal glucose metabolism, the reported polymorphisms are unlikely... -
Federal
Association of MHC and rheumatoid arthritis:HLA polymorphisms in phenotypic variants of rheumatoid arthritis
U.S. Department of Health & Human Services —
Genes in the human leukocyte antigen (HLA) region remain the most powerful disease risk genes in rheumatoid arthritis (RA). Several allelic variants of HLA-DRB1 genes... -
Federal
Possible association of β
U.S. Department of Health & Human Services —
Background The involvement of β2-adrenergic receptor (ADRB2) and β3-adrenergic receptor (ADRB3) in both adipocyte lipolysis and thermogenic activity suggests that... -
Federal
Genetic polymorphisms in lung disease: bandwagon or breakthrough?
U.S. Department of Health & Human Services —
The study of genetic polymorphisms has touched every aspect of pulmonary and critical care medicine. We review recent progress made using genetic polymorphisms to... -
Federal
A49T, V89L and TA repeat polymorphisms of steroid 5α-reductase type II and breast cancer risk in Japanese women
U.S. Department of Health & Human Services —
Background Breast cancer is hormone related, as are cancers of the endometrium, ovary, and prostate. Several studies have suggested that higher extracellular levels... -
Federal
SNP analysis of the inter-alpha-trypsin inhibitor family heavy chain-related protein (IHRP) gene by a fluorescence-adapted SSCP method
U.S. Department of Health & Human Services —
Background Single-nucleotide polymorphisms (SNPs) are considered to be useful polymorphic markers for genetic studies of polygenic traits. Single-stranded... -
Federal
Analysis of genetic heterogeneity in the HCAR adenovirus-binding Ig1 domain in a Caucasian Flemish population
U.S. Department of Health & Human Services —
Background Polymorphisms in the gene that encodes the human cellular receptor for group B coxsackieviruses and adenoviruses (HCAR) could be responsible for...
12 datasets found