Associated Papers
Proteogenomic Profiling of Treatment-Naïve Metastatic Malignant Melanoma.
Kuras M et al.
Cancers, 2025
Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.
Yang N et al.
Bmc Pediatrics, 2024
Evolutionary history of adenomas to colorectal cancer in FAP families.
Yang C et al.
Frontiers in Genetics, 2024
Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.
Fang Y et al.
Frontiers in Genetics, 2023
Sensitization of Patient-Derived Colorectal Cancer Organoids to Photon and Proton Radiation by Targeting DNA Damage Response Mechanisms.
Pape K et al.
Cancers, 2022
H6PD Gene Polymorphisms (R453Q and D151A) and Polycystic Ovary Syndrome: A Case-Control Study in A Population of Iranian Kurdish Women.
Naseri R et al.
International Journal of Fertility & Sterility, 2022
Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.
Sebate B et al.
Plos One, 2021
Whole-Exome Sequencing Characterized the Landscape of Somatic Mutations and Pathways in Colorectal Cancer Liver Metastasis.
Feng L et al.
Journal of Oncology, 2019
X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.
Khan MJ et al.
Scientific Reports, 2018
Three-dimensional modelling identifies novel genetic dependencies associated with breast cancer progression in the isogenic MCF10 model.
Maguire SL et al.
The Journal of Pathology, 2016
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
Tang X et al.
Nucleic Acids Research, 2014
Genetic variants of the HSD11B1 gene promoter may be protective against polycystic ovary syndrome.
Grolmusz VK et al.
Molecular Biology Reports, 2014
Gender-dependent association of HSD11B1 single nucleotide polymorphisms with glucose and HDL-C levels.
Turek LV et al.
Genetics and Molecular Biology, 2014
Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.
Nasuno T et al.
Cancer Science, 2014
[Importance of the 11β-hydroxysteroid dehydrogenase enzyme in clinical disorders].
Feldman K et al.
Orvosi Hetilap, 2013
The R453Q and D151A polymorphisms of hexose-6-phosphate dehydrogenase gene (H6PD) influence the polycystic ovary syndrome (PCOS) and obesity.
Martínez-García MA et al.
Gene, 2012
Association between 11beta-hydroxysteroid dehydrogenase type 1 gene polymorphisms and metabolic syndrome in Bosnian population.
Dujic T et al.
Biochemia Medica, 2012
Genetic polymorphisms of the glucocorticoid receptor may affect the phenotype of women with anovulatory polycystic ovary syndrome.
Valkenburg O et al.
Human Reproduction (oxford, England), 2011
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
Mutations of the hexose-6-phosphate dehydrogenase gene rarely cause hyperandrogenemic polycystic ovary syndrome.
Qin K et al.
Steroids, 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
Family-based analysis of candidate genes for polycystic ovary syndrome.
Ewens KG et al.
The Journal of Clinical Endocrinology and Metabolism, 2010
Hexose-6-phosphate dehydrogenase in the endoplasmic reticulum.
Senesi S et al.
Biological Chemistry, 2010
Steroid biomarkers and genetic studies reveal inactivating mutations in hexose-6-phosphate dehydrogenase in patients with cortisone reductase deficiency.
Lavery GG et al.
The Journal of Clinical Endocrinology and Metabolism, 2008
Physiological roles of 11 beta-hydroxysteroid dehydrogenase type 1 and hexose-6-phosphate dehydrogenase.
White PC et al.
Current Opinion in Pediatrics, 2008
Identification of SNPs, or mutations in sequence chromatograms.
Draper N
Methods in Molecular Biology (clifton, N.j.), 2008
From human genetics and genomics to pharmacogenetics and pharmacogenomics: past lessons, future directions.
Nebert DW et al.
Drug Metabolism Reviews, 2008
[11beta-hydroxysteroide dehydrogenases. Recent advances].
Vantyghem MC et al.
Annales D'endocrinologie, 2007
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
Variants implicated in cortisone reductase deficiency do not contribute to susceptibility to common forms of polycystic ovary syndrome.
Draper N et al.
Clinical Endocrinology, 2006
Genetic variation in 11beta-hydroxysteroid dehydrogenase type 1 predicts adrenal hyperandrogenism among lean women with polycystic ovary syndrome.
Gambineri A et al.
The Journal of Clinical Endocrinology and Metabolism, 2006
Genomic variants in polycystic ovary syndrome.
Luque-Ramírez M et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2006
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
A study of the hexose-6-phosphate dehydrogenase gene R453Q and 11beta-hydroxysteroid dehydrogenase type 1 gene 83557insA polymorphisms in the polycystic ovary syndrome.
San Millán JL et al.
The Journal of Clinical Endocrinology and Metabolism, 2005
Minireview: hexose-6-phosphate dehydrogenase and redox control of 11{beta}-hydroxysteroid dehydrogenase type 1 activity.
Hewitt KN et al.
Endocrinology, 2005
11beta-hydroxysteroid dehydrogenase type 1: a tissue-specific regulator of glucocorticoid response.
Tomlinson JW et al.
Endocrine Reviews, 2004
Molecular screening of the 11beta-HSD1 gene in men characterized by the metabolic syndrome.
Robitaille J et al.
Obesity Research, 2004
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
Functional genetic polymorphisms and female reproductive disorders: Part I: Polycystic ovary syndrome and ovarian response.
Simoni M et al.
Human Reproduction Update, 0