Varaico: Literature-Extracted Genetic Variants

Gene:HSD11B1
Variant:p.S186insFs
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HSD11B1

NM_005525.4:p.S186insFs

Associated Papers

Genetic variants of the HSD11B1 gene promoter may be protective against polycystic ovary syndrome.

Grolmusz VK et al.

Molecular Biology Reports, 2014

[Importance of the 11β-hydroxysteroid dehydrogenase enzyme in clinical disorders].

Feldman K et al.

Orvosi Hetilap, 2013

The rs4844880 polymorphism in the promoter region of the HSD11B1 gene associates with bone mineral density in healthy and postmenopausal osteoporotic women.

Feldman K et al.

Steroids, 2012

The effect of common genetic variation in 11β-hydroxysteroid dehydrogenase type 1 on hypothalamic-pituitary-adrenal axis activity and incident depression.

Dekker MJ et al.

The Journal of Clinical Endocrinology and Metabolism, 2012

Association between 11beta-hydroxysteroid dehydrogenase type 1 gene polymorphisms and metabolic syndrome in Bosnian population.

Dujic T et al.

Biochemia Medica, 2012

A combination of polymorphisms in HSD11B1 associates with in vivo 11{beta}-HSD1 activity and metabolic syndrome in women with and without polycystic ovary syndrome.

Gambineri A et al.

European Journal of Endocrinology, 2011

The 83,557insA variant of the gene coding 11β-hydroxysteroid dehydrogenase type 1 enzyme associates with serum osteocalcin in patients with endogenous Cushing's syndrome.

Szappanos A et al.

The Journal of Steroid Biochemistry and Molecular Biology, 2011

Relationship of 11β-hydroxysteroid dehydrogenase type 1 and hexose-6-phosphate dehydrogenase gene polymorphisms with metabolic syndrome and type 2 diabetes.

Moon SS et al.

Endocrine Journal, 2011

Hexose-6-phosphate dehydrogenase in the endoplasmic reticulum.

Senesi S et al.

Biological Chemistry, 2010

Hexose 6-phosphate dehydrogenase (H6PD) and corticosteroid metabolism.

White PC et al.

Molecular and Cellular Endocrinology, 2007

Lack of Association of the 11beta-hydroxysteroid dehydrogenase type 1 gene 83,557insA and hexose-6-phosphate dehydrogenase gene R453Q polymorphisms with body composition, adrenal androgen production, blood pressure, glucose metabolism, and dementia.

Smit P et al.

The Journal of Clinical Endocrinology and Metabolism, 2007

Genotypes at 11beta-hydroxysteroid dehydrogenase type 11B1 and hexose-6-phosphate dehydrogenase loci are not risk factors for apparent cortisone reductase deficiency in a large population-based sample.

White PC

The Journal of Clinical Endocrinology and Metabolism, 2005

Mutations in the genes encoding 11beta-hydroxysteroid dehydrogenase type 1 and hexose-6-phosphate dehydrogenase interact to cause cortisone reductase deficiency.

Draper N et al.

Nature Genetics, 2003

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."