Disorders of Steroid 11β-Hydroxylase Isozymes*

WHITE, PERRIN C., CURNOW, KATHLEEN M., PASCOE, LEIGH·1994·Endocrine Reviews

Cited by (272)

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  1. Four novel missense mutations in the CYP21A2 gene detected in Russian patients suffering from the classical form of congenital adrenal hyperplasia: identification, functional characterization, and structural analysis
    Grischuk, Yulia, Rubtsov, Petr, Riepe, Felix G., Grötzinger, Joachim, Beljelarskaia, Svetlana, Prassolov, Vladimir, Kalintchenko, Natalya, Semitcheva, Tatyana, Peterkova, Valentina, Tiulpakov, Anatoly et al. · 2006 · The Journal of Clinical Endocrinology & Metabolism
  2. Suppression of the HPA axis during extrahepatic biliary obstruction induces cholangiocyte proliferation in the rat
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  3. Prevalence, clinical characteristics and long-term outcomes of classical 11 β-hydroxylase deficiency (11BOHD) in Turkish population and novel mutations in CYP11B1 gene
    Firdevs Baş, Güven Toksoy, Berrin Ergun-Longmire, Zehra Oya Uyguner, Zehra Yavaş Abalı, Şükran Poyrazoğlu, Volkan Karaman, Şahin Avcı, Umut Altunoğlu, Rüveyde Bundak et al. · 2018 · The Journal of Steroid Biochemistry and Molecular Biology
  4. Characterization of the molecular genetic pathology in patients with 11β‐hydroxylase deficiency
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  5. Can the dextroenantiomer of the aromatase inhibitor fadrozole be useful for clinical investigation of aldosterone-synthase inhibition?
    Joël Ménard, Leigh Pascoe · 2006 · Journal of Hypertension
  6. Homozygous Deletion of Arginine-173 in the CYP11B2 Gene in a Girl with Congenital Hypoaldosteronism
    Michael Peter, Werner Nikischin, Peter Heinz‐Erian, W. Fussenegger, Klaus Kapelari, Wolfgang G. Sippell · 1998 · Hormone Research in Paediatrics
  7. Therapeutic relevance of pharmacogenetic factors in cardiovascular medicine
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  8. Three Novel <i>CYP11B1</i> Mutations in Congenital Adrenal Hyperplasia due to Steroid 11Beta-Hydroxylase Deficiency in a Moroccan Population
    Chabraoui, L., Abid, F., Menassa, R., Gaouzi, A., El Hessni, A., Morel, Y. · 2010 · Hormone Research in Paediatrics
  9. Only two mutations detected in 15 Tunisian patients with 11β-hydroxylase deficiency: the p.Q356X and the novel p.G379V
    Kharrat, M, Trabelsi, S, Chaabouni, M, Maazoul, F, Kraoua, L, Ben Jemaa, L, Gandoura, N, Barsaoui, S, Morel, Y, M’rad, R et al. · 2010 · Clinical Genetics
  10. The human adrenal cortex: growth control and disorders
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  11. Characterisation of three novel CYP11B1 mutations in classic and non-classic 11β-hydroxylase deficiency
    Seher Polat, Alexandra E. Kulle, Züleyha Karaca, Ilker Akkurt, Kurtoglu Selim, Fahrettin Keleştimur, Joachim Grötzinger, Paul‐Martin Holterhus, Felix G. Riepe · 2014 · European Journal of Endocrinology
  12. Novel and prevalent CYP11B1 gene mutations in Turkish patients with 11-β hydroxylase deficiency
    Nurgün Kandemir, Didem Yücel Yılmaz, Elmas Nazli Gonc, Alev Özön, Ayfer Alikaşifoğlu, Ali Dursun, Rıza Köksal Özgül · 2016 · The Journal of Steroid Biochemistry and Molecular Biology
  13. Correlation between left ventricular mass and urinary sodium excretion in specific genotypes of CYP11B2
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  14. CYP11B2 polymorphisms and cardiovascular risk factors
    Eleanor Davies, Christopher J. Kenyon · 2003 · Journal of Hypertension
  15. Genetic disorders of steroid hormone synthesis and metabolism
    Maria I. New, Perrin C. White · 1995 · Baillière s Clinical Endocrinology and Metabolism
  16. Genetics of vitamin D biosynthesis and its disorders
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  18. Physiological and pathophysiological applications of sensitive ELISA methods for urinary deoxycorticosterone and corticosterone in rodents
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  21. Congenital adrenal hyperplasias
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  22. Congenital Adrenal Hyperplasia: Molecular Genetics and Alternative Approaches to Treatment
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  23. Analysis of novel heterozygous mutations in the CYP11B2 gene causing congenital aldosterone synthase deficiency and literature review
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  24. Interaction of CYP11B1 (cytochrome P‐45011β) with CYP11A1 (cytochrome P‐450scc) in COS‐1 cells
    Peirang Cao, Rita Bernhardt · 1999 · European Journal of Biochemistry
  25. Mutations in CYP11B1 Gene Converting 11 -Hydroxylase into an Aldosterone-Producing Enzyme Are Not Present in Aldosterone-Producing Adenomas
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  26. Mutation THR-185 ILE is associated with corticosterone methyl oxidase deficiency type II
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  27. The effect of amino‐acid substitutions I112P, D147E and K152N in CYP11B2 on the catalytic activities of the enzyme
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  28. Inherited Disorders of the Renal Tubule
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  29. Evaluation of Hypertension in Childhood Diseases
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  30. A Case of 11β-Hydroxylase Deficiency Detected in a Newborn Screening Program by Second-Tier LC-MS/MS
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  31. Congenital Adrenal Hyperplasia due to 11-Hydroxylase Deficiency – Insights from Two Novel <i>CYP11B1</i> Mutations (p.M92X, p.R453Q)
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  35. Molecular Diagnosis of Congenital Adrenal Hyperplasia in Iran: Focusing on CYP21A2 Gene.
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  36. Aldosterone synthase deficiency caused by a homozygous L451F mutation in the CYP11B2 gene
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  37. Phenotypic, metabolic, and molecular genetic characterization of six patients with congenital adrenal hyperplasia caused by novel mutations in the CYP11B1 gene
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  38. Two Novel Mutations in Splice Donor Sites ofCYP11B1in Congenital Adrenal Hyperplasia Due to 11β-Hydroxylase Deficiency
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  39. Steroid Hormones: Chemistry, Biosynthesis, and Metabolism
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  42. Update on the Prenatal Diagnosis and Treatment of Congenital Adrenal Hyperplasia due to 11β-Hydroxylase Deficiency
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  43. Functional effects of genetic variants in the 11β‐hydroxylase (CYP11B1) gene
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  46. Amino Acid Residue 147 of Human Aldosterone Synthase and 11 -Hydroxylase Plays a Key Role in 11 -Hydroxylation
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  47. Hook Effect: A Pitfall Leading to Misdiagnosis of Hypoaldosteronism in an Infant with Pseudohypoaldosteronism
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  48. Expression of 11?-hydroxylase (CYP11B1) and aldosterone synthase (CYP11B2) in the human fetal adrenal
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  49. Identification of the fungicide epoxiconazole by virtual screening and biological assessment as inhibitor of human 11β-hydroxylase and aldosterone synthase
    Muhammad Akram, Melanie Patt, Teresa Kaserer, Veronika Temml, Watcharee Waratchareeyakul, Denise V. Kratschmar, Jörg Haupenthal, Rolf W. Hartmann, Alex Odermatt, Daniela Schuster · 2019 · The Journal of Steroid Biochemistry and Molecular Biology
  50. Genetics of the Adrenal Gland
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  51. Novel CYP11B2 mutation causing aldosterone synthase (P450c11AS) deficiency
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  52. Mechanisms of Negative and Positive Feedback of Steroids in the Hypothalamic–Pituitary System
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  53. Congenital Hypoaldosteronism: The Visser-Cost Syndrome Revisited
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  54. Evaluation of Endocrine Function
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  56. Effects of atipamezole, detomidine and medetomidine on release of steroid hormones by porcine adrenocortical cells in vitro
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  57. Congenital Adrenal Hyperplasia: From Genetics and Biochemistry to Clinical Practice, Part 1
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  59. Acne infantum as presenting symptom of congenital adrenal hyperplasia due to 11‐beta‐hydroxylase deficiency
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  60. Novel homozygous p.R454C mutation in the CYP11B1 gene leads to 11β-hydroxylase deficiency in a Chinese patient
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  64. Chromatographic system for the simultaneous measurement of plasma 18-hydroxy-11-deoxycorticosterone and 18-hydroxycorticosterone by radioimmunoassay: reference data for neonates and infants and its application in aldosterone-synthase deficiency
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  67. A Novel Mutation in theCYP11B1Gene Causes Steroid 11β-Hydroxylase Deficient Congenital Adrenal Hyperplasia with Reversible Cardiomyopathy
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