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Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline.
Clinical practice guidelines for congenital adrenal hyperplasia (CAH) recommend universal newborn screening for severe steroid 21-hydroxylase deficiency followed by confirmatory tests and recommend judicious use of medication during pregnancy and in symptomatic patients with nonclassic CAH.
A modular analysis framework for blood genomics studies: application to systemic lupus erythematosus.
The Very Large G-Protein-Coupled Receptor VLGR1: A Component of the Ankle Link Complex Required for the Normal Development of Auditory Hair Bundles
The results indicate that Vlgr1 is required for formation of the ankle link complex and the normal development of cochlear hair bundles.
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Prenatal diagnosis by direct mutation detection permits prenatal treatment of affected females with severe, classic 21-hydroxylase deficiency to minimize genital virilization, reducing mortality from this condition.
Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
The data suggest that most but not all of the phenotypic variability in 21-hydroxylase deficiency results from allelic variation in CYP21, which should be possible in most cases using the described strategy.
Mutations in the genes encoding 11β-hydroxysteroid dehydrogenase type 1 and hexose-6-phosphate dehydrogenase interact to cause cortisone reductase deficiency
A defect in the gene HSD11B1 encoding 11β-hydroxysteroid dehydrogenase type 1 (11β-HSD1), a primary regulator of tissue-specific glucocorticoid bioavailability, is suggested and H6PDH is established as a potential factor in the pathogenesis of PCOS.
Human hypertension caused by mutations in the kidney isozyme of 11β–hydroxysteroid dehydrogenase
The gene encoding the kidney isozyme of 11βHSD is analysed and mutations on both alleles in nine of 11 AME patients (eight of nine kindreds) markedly affect enzymatic activity and permit cortisol to occupy the renal mineralocorticoid receptor and thereby cause sodium retention and hypertension.
11 beta-Hydroxysteroid dehydrogenase and the syndrome of apparent mineralocorticoid excess.
Mutations in the HSD11B2 (HSD11K) gene encoding the kidney isozyme of 11-HSD have been detected in all kindreds with AME studied thus far, and this gene represents a candidate locus for the common, "essential" form of hypertension.
Haplotype analysis of CYP11B2.
Further studies are required to determine if the observed differences between blacks and whites in blood pressure and in aldosterone levels can be explained in part by these allelic differences in CYP11B2 or by other polymorphisms in linkage disequilibrium on these haplotypes.
Gene expression in peripheral blood mononuclear cells from children with diabetes.
- E. Kaizer, C. Glaser, D. Chaussabel, J. Banchereau, V. Pascual, P. White
- Medicine, BiologyThe Journal of clinical endocrinology and…
T1D and T2D likely share a final common pathway for beta-cell dysfunction that includes secretion of IL-1beta and prostaglandins by immune effector cells, exacerbating existing beta- cell dysfunction, and causing further hyperglycemia.