- 関
- 11-beta-hydroxylase deficiency
PrepTutorEJDIC
- 〈U〉〈C〉(…の)(量・額などの)不足,欠乏《+『of』(『in』)+『名』》 / 〈C〉不足分,不足量,不足額 / 〈C〉(精神・肉体などの)欠陥
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- 1. 11βヒドロキシラーゼ欠損症による先天性副腎過形成 congenital adrenal hyperplasia due to 11 beta hydroxylase deficiency
- 2. 副腎ステロイド生合成 adrenal steroid biosynthesis
- 3. 21－ヒドロキシラーゼ欠損症による古典的先天性副腎皮質過形成の診断 diagnosis of classic congenital adrenal hyperplasia due to 21 hydroxylase deficiency
- 4. 先天性副腎過形成の稀な原因 uncommon causes of congenital adrenal hyperplasia
- 5. 原発性（本態性）の病因における遺伝的要因 genetic factors in the pathogenesis of primary essential hypertension
English Journal
- Phenotypic, metabolic, and molecular genetic characterization of six patients with congenital adrenal hyperplasia caused by novel mutations in the CYP11B1 gene.
- Nguyen HH1, Eiden-Plach A2, Hannemann F2, Malunowicz EM3, Hartmann MF4, Wudy SA4, Bernhardt R5.
- The Journal of steroid biochemistry and molecular biology.J Steroid Biochem Mol Biol.2016 Jan;155(Pt A):126-34. doi: 10.1016/j.jsbmb.2015.10.011. Epub 2015 Oct 22.
- Congenital adrenal hyperplasia (CAH) is an autosomal recessive inherited disorder of steroidogenesis. Steroid 11β-hydroxylase deficiency (11β-OHD) due to mutations in the CYP11B1 gene is the second most common form of CAH. In this study, 6 patients suffering from CAH were diagnosed with 11β-OHD u
- PMID 26476331
- Characterization of the molecular genetic pathology in patients with 11β-hydroxylase deficiency.
- Mooij CF1,2, Parajes S1, Rose IT1, Taylor AE1, Bayraktaroglu T3, Wass JA4, Connell JM5, Ray DW6, Arlt W1, Krone N1.
- Clinical endocrinology.Clin Endocrinol (Oxf).2015 Nov;83(5):629-635. doi: 10.1111/cen.12834. Epub 2015 Jul 14.
- OBJECTIVE: Steroid 11β-hydroxylase (CYP11B1) deficiency (11OHD) is the second most common form of congenital adrenal hyperplasia. Nonclassic or mild 11OHD appears to be a rare condition. Our study assessed the residual CYP11B1 function of detected mutations, adding to the spectrum of mild 11OHD, an
- PMID 26053152
- Chimeric CYP11B2/CYP11B1 causing 11β-hydroxylase deficiency in Chinese patients with congenital adrenal hyperplasia.
- Xu L1, Xia W1, Wu X1, Wang X1, Zhao L1, Nie M2.
- Steroids.Steroids.2015 Sep;101:51-5. doi: 10.1016/j.steroids.2015.06.002. Epub 2015 Jun 9.
- CYP11B1 and CYP11B2 are highly homologous genes that can form chimera following unequal crossing-over during meiosis. A chimeric CYP11B1/CYP11B2 gene causes glucocorticoid-remediable aldosteronism (GRA), while the rare CYP11B2/CYP11B1 chimeric gene leads to 11β-hydroxylase deficiency (11-OHD). The
- PMID 26066897
Japanese Journal
- The frequency of lateonset 21-hydroxylase and 11 beta-hydroxylase deficiency in women with polycystic ovary syndrome
- SAHIN Y
- Eur J Endocrinol 137, 670-674, 1997
- NAID 30015209362
Related Links
- Rarely, patients with 11-beta-hydroxylase deficiency may have salt wasting, especially during infancy. The exact pathophysiology of this is unclear. In some cases, excess glucocorticoid administration appears to play a ...
- Krone N, Riepe FG, Götze D, Korsch E, Rister M, Commentz J, Partsch CJ, Grötzinger J, Peter M, Sippell WG. Congenital adrenal hyperplasia due to 11-hydroxylase deficiency: functional characterization of two novel point ...
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★リンクテーブル★
| リンク元 | 「11β-水酸化酵素欠損症」 |
| 関連記事 | 「deficiency」 |
「11β-水酸化酵素欠損症」
- 英
- 11β-hydroxylase deficiency 11beta-hydroxylase deficiency
- 同
- 11β-ヒドロキシラーゼ欠損症 11βヒドロキシラーゼ欠損症、11β水酸化酵素欠損症
- 関
- 11β-水酸化酵素
「deficiency」
- n.
- 不足、欠乏、欠失、欠如、欠損、不十分。栄養不足、栄養素欠乏、欠乏症。(遺伝子)(染色体内の)遺伝子欠失
- 欠けているもの、不足している物。不足分。不完全なもの、欠点のあるもの
- 関
- absence, agenesis, dearth, defect, defective, deficient, deficit, delete, deletion, deletional, depletion, deprivation, deprive, lack, miss, missing, morphological defect, paucity, scarce, scarcity, starve