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MHC2TA is associated with differential MHC molecule expression and susceptibility to rheumatoid arthritis, multiple sclerosis and myocardial infarction
Antigen presentation to T cells by MHC molecules is essential for adaptive immune responses. To determine the exact position of a gene affecting expression of MHC molecules, we finely mapped aExpand
Epigenetic regulation of PPARGC1A in human type 2 diabetic islets and effect on insulin secretion
Aims/hypothesisInsulin secretion in pancreatic islets is dependent upon mitochondrial function and production of ATP. The transcriptional coactivator peroxisome proliferator activated receptor gammaExpand
Mutational spectrum of the steroid 21-hydroxylase gene in Sweden: implications for genetic diagnosis and association with disease manifestation.
We have characterized the disease-causing mutations in the steroid 21-hydroxylase genes of 127 patients with different clinical forms of congenital adrenal hyperplasia, representing 186 unrelatedExpand
High efficiency polyoma DNA transfection of chloroquine treated cells.
Chloroquine treatment of rodent cells during the first hours of polyoma DNA transfection increase the fraction of cells expressing viral functions. The effect has been observed after DNA absorptionExpand
Genetic analysis of non-insulin dependent diabetes mellitus in the GK rat
Non-insulin dependent diabetes mellitus (NIDDM) is a major public health problem, but its aetiology remains poorly understood. We have performed a comprehensive study of the genetic basis of diabetesExpand
Susceptibility loci for atopic dermatitis on chromosomes 3, 13, 15, 17 and 18 in a Swedish population.
Atopic dermatitis is a hereditary, pruritic, inflammatory and chronic skin disease that typically presents in early childhood and may continue or recur later. The etiology of atopic dermatitis isExpand
Overexpression of Alpha2A-Adrenergic Receptors Contributes to Type 2 Diabetes
Ratting Out a Diabetes Gene Inbred animals with inherited susceptibility to disease can be especially informative regarding pathogenetic mechanisms because they carry naturally occurring geneticExpand
No mutations in the BACH1 gene in BRCA1 and BRCA2 negative breast‐cancer families linked to 17q22
Dear Sir, At least 10% of all breast cancer is estimated to result from an inherited predisposition.1 Mutations in 2 genes, BRCA1 and BRCA2, have been shown to confer a very high risk for breast andExpand
Steroid 21-hydroxylase deficiency: two additional mutations in salt-wasting disease and rapid screening of disease-causing mutations.
A method for genetic diagnosis of steroid 21-hydroxylase deficiency was developed based on allele-specific PCR. With this approach, genotyping of fourteen mutations and diagnosis of homozygous geneExpand
Synergistic effect of partially inactivating mutations in steroid 21-hydroxylase deficiency.
Lesions in the gene encoding steroid 21-hydroxylase result in congenital adrenal hyperplasia, with impaired secretion of cortisol and aldosterone from the adrenal cortex and overproduction ofExpand