| Clinical and molecular characterization of 10 Chinese children with congenital adrenal hyperplasia due to 11beta-hydroxylase deficiency. | Clinical and molecular characterization of 10 Chinese children with congenital adrenal hyperplasia due to 11beta-hydroxylase deficiency.
Lu WL, Ma XY, Zhang J, Wang JQ, Zhang TT, Ye L, Xiao Y, Dong ZY, Wang W, Sun SY, Li CY, Hu RG, Ning G, Zhang LD., Free PMC Article | 06/28/2024 |
| [Analysis of a family with 11beta-hydroxylase deficiency due to a mutation in the CYP11B1 gene]. | [Analysis of a family with 11β-hydroxylase deficiency due to a mutation in the CYP11B1 gene].
Yu YY, Tao YK, Hou JZ, Zhou GX, Du JJ, Zhang D. | 06/20/2024 |
| Identification and functional characterization of compound heterozygous CYP11B1 gene mutations. | Identification and functional characterization of compound heterozygous CYP11B1 gene mutations.
Liu H, Liu F, Wei Z, Liu P, Liu Q, Chen L, Hou X. | 04/16/2024 |
| Molecular analysis of 12 Chinese patients with 11beta-hydroxylase deficiency and in vitro functional study of 20 CYP11B1 missense variants. | Molecular analysis of 12 Chinese patients with 11β-hydroxylase deficiency and in vitro functional study of 20 CYP11B1 missense variants.
Sun B, Lu L, Xie S, Zhang W, Zhang X, Tong A, Chen S, Wu X, Mao J, Wang X, Qiu L, Nie M. | 03/22/2023 |
| Genetic variants in CYP11B1 influence the susceptibility to coronary heart disease. | Genetic variants in CYP11B1 influence the susceptibility to coronary heart disease.
Huang X, Cheng Y, Wang N., Free PMC Article | 07/23/2022 |
| Aldosterone-producing nodules and CYP11B1 signaling correlate in primary aldosteronism. | Aldosterone-producing nodules and CYP11B1 signaling correlate in primary aldosteronism.
Lin JH, Peng KY, Kuo YP, Liu H, Tan CB, Lin YF, Chiu HW, Lin YH, Chen YM, Chueh JS, Wu VC. | 04/16/2022 |
| Expression of CYP11B1 and CYP11B2 in adrenal adenoma correlates with clinical characteristics of primary aldosteronism. | Expression of CYP11B1 and CYP11B2 in adrenal adenoma correlates with clinical characteristics of primary aldosteronism.
Ahn CH, Na HY, Park SY, Yu HW, Kim SJ, Choi JY, Lee KE, Kim SW, Jung KC, Kim JH. | 01/29/2022 |
| GRAde: a long-read sequencing approach to efficiently identifying the CYP11B1/CYP11B2 chimeric form in patients with glucocorticoid-remediable aldosteronism. | GRAde: a long-read sequencing approach to efficiently identifying the CYP11B1/CYP11B2 chimeric form in patients with glucocorticoid-remediable aldosteronism.
Wu YC, Chen CI, Chen PY, Kuo CH, Hung YH, Peng KY, Wu VC, Tsai-Wu JJ, Hsu CL, TAIPAI group., Free PMC Article | 01/15/2022 |
| CYP11B1 variants influence skeletal maturation via alternative splicing. | CYP11B1 variants influence skeletal maturation via alternative splicing.
Grgic O, Gazzara MR, Chesi A, Medina-Gomez C, Cousminer DL, Mitchell JA, Prijatelj V, de Vries J, Shevroja E, McCormack SE, Kalkwarf HJ, Lappe JM, Gilsanz V, Oberfield SE, Shepherd JA, Kelly A, Mahboubi S, Faucz FR, Feelders RA, de Jong FH, Uitterlinden AG, Visser JA, Ghanem LR, Wolvius EB, Hofland LJ, Stratakis CA, Zemel BS, Barash Y, Grant SFA, Rivadeneira F., Free PMC Article | 12/18/2021 |
| 11beta-Hydroxylase (CYP11B1) gene variants and new-onset depression in later life. | 11β-Hydroxylase (CYP11B1) gene variants and new-onset depression in later life.
Ancelin ML, Norton J, Ritchie K, Chaudieu I, Ryan J., Free PMC Article | 10/30/2021 |
| Two intronic variants of CYP11B1 and CYP17A1 disrupt mRNA splicing and cause congenital adrenal hyperplasia (CAH). | Two intronic variants of CYP11B1 and CYP17A1 disrupt mRNA splicing and cause congenital adrenal hyperplasia (CAH).
Dai W, Zhang X, Liu H, Sun Y, Fan Y, Yu Y. | 06/19/2021 |
| Substrate-induced modulation of protein-protein interactions within human mitochondrial cytochrome P450-dependent system. | Substrate-induced modulation of protein-protein interactions within human mitochondrial cytochrome P450-dependent system.
Yablokov EO, Sushko TA, Kaluzhskiy LA, Kavaleuski AA, Mezentsev YV, Ershov PV, Gilep AA, Ivanov АS, Strushkevich NV. | 05/8/2021 |
| Molecular mechanisms of posaconazole- and itraconazole-induced pseudohyperaldosteronism and assessment of other systemically used azole antifungals. | Molecular mechanisms of posaconazole- and itraconazole-induced pseudohyperaldosteronism and assessment of other systemically used azole antifungals.
Beck KR, Telisman L, van Koppen CJ, Thompson GR 3rd, Odermatt A. | 08/15/2020 |
| The study results suggest that DNA methylation at the CYP11B1 promoter plays a role in the regulation of CYP11B1 expression and cortisol production in cortisol-producing adenoma, and that somatic mutations associated with cortisol-producing adenoma reduce DNA methylation at the CYP11B1 promoter. | Cortisol overproduction results from DNA methylation of CYP11B1 in hypercortisolemia.
Kometani M, Yoneda T, Demura M, Koide H, Nishimoto K, Mukai K, Gomez-Sanchez CE, Akagi T, Yokota T, Horike SI, Karashima S, Miyamori I, Yamagishi M, Takeda Y., Free PMC Article | 06/15/2019 |
| This study reports the X-ray crystal structure of human CYP11B1 (at 2.1 A resolution) in complex with fadrozole, a racemic compound normally used to treat breast cancer by inhibiting estrogen-producing CYP19A1. | Structure of human cortisol-producing cytochrome P450 11B1 bound to the breast cancer drug fadrozole provides insights for drug design.
Brixius-Anderko S, Scott EE., Free PMC Article | 05/4/2019 |
| Divergent gender identity was observed in three severely masculinized 46XX siblings with congenital adrenal hyperplasia who carried the same CYP11B1 mutation and had comparable postnatal and probably prenatal androgen exposure and environmental circumstances | Divergent gender identity in three siblings with 46XX karyotype and severely virilizing congenital adrenal hyperplasia caused by a novel CYP11B1 mutation.
Bin-Abbas B, Al-Humaida D, Al-Sagheir A, Qasem E, Almohanna M, Alzahrani AS. | 04/20/2019 |
| Mutation in CYP11B1 gene is associated with 11 beta-hydroxylase deficiency | Prevalence, clinical characteristics and long-term outcomes of classical 11 β-hydroxylase deficiency (11BOHD) in Turkish population and novel mutations in CYP11B1 gene.
Baş F, Toksoy G, Ergun-Longmire B, Uyguner ZO, Abalı ZY, Poyrazoğlu Ş, Karaman V, Avcı Ş, Altunoğlu U, Bundak R, Karaman B, Başaran S, Darendeliler F. | 04/13/2019 |
| CYP11B1 mutations were associated with highly variable phenotypes, from mild to severe virilization, and early-onset hypertension or salt wasting. | Insights on the phenotypic heterogenity of 11β-hydroxylase deficiency: clinical and genetic studies in two novel families.
Valadares LP, Pfeilsticker ACV, de Brito Sousa SM, Cardoso SC, de Moraes OL, Gonçalves de Castro LC, de Oliveira RS, Lofrano-Porto A. | 04/13/2019 |
| p.L340P CYP11B1 mutation is associated with 11beta-Hydroxylase deficiency. | A novel chimeric CYP11B2/CYP11B1 combined with a new p.L340P CYP11B1 mutation in a patient with 11OHD: case report.
Duan L, Shen R, Song L, Liao Y, Zheng H., Free PMC Article | 09/29/2018 |
| CYP11B1 silencing confirmed the lack of a significant metyrapone effect on mitotane action. The present findings do not support the view that CYP11B1 catalyzes a crucial step in the metabolic activation of mitotane and that CYP11B1 confers the adrenal specificity to mitotane | CYP11B1 has no role in mitotane action and metabolism in adrenocortical carcinoma cells.
Germano A, Saba L, De Francia S, Rapa I, Perotti P, Berruti A, Volante M, Terzolo M., Free PMC Article | 08/4/2018 |
| we report clinical, genetic, hormonal, and structural effects of CYP11B1 gene mutations in the largest international cohort of 108 patients with steroid 11b-hydroxylase deficiency CAH. | Clinical, genetic, and structural basis of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency.
Khattab A, Haider S, Kumar A, Dhawan S, Alam D, Romero R, Burns J, Li D, Estatico J, Rahi S, Fatima S, Alzahrani A, Hafez M, Musa N, Razzghy Azar M, Khaloul N, Gribaa M, Saad A, Charfeddine IB, Bilharinho de Mendonça B, Belgorosky A, Dumic K, Dumic M, Aisenberg J, Kandemir N, Alikasifoglu A, Ozon A, Gonc N, Cheng T, Kuhnle-Krahl U, Cappa M, Holterhus PM, Nour MA, Pacaud D, Holtzman A, Li S, Zaidi M, Yuen T, New MI., Free PMC Article | 04/14/2018 |
| We conclude that 11 beta-OHD in Saudi Arabia has a unique genotype with a high rate of novel mutations. The novel p. R448P mutation is the most common mutation in this highly inbred population. | A high rate of novel CYP11B1 mutations in Saudi Arabia.
Alzahrani AS, Alswailem MM, Murugan AK, Alhomaidah DS, Capper CP, Auchus RJ, Qasem E, Alzahrani OS, Al-Sagheir A, Bin-Abbas B. | 11/18/2017 |
| One known and two novel CYP11B1 mutations are associated with congenital adrenal hyperplasia in a Chinese family. The two novel CYP11B1 mutations change heme binding site and decrease 11-hydroxylase activity in vitro. | Congenital adrenal hyperplasia due to 11-hydroxylase deficiency-Compound heterozygous mutations of a prevalent and two novel CYP11B1 mutations.
Gu C, Tan H, Yang J, Lu Y, Ma Y. | 07/29/2017 |
| Data suggest that binding sites between CYP11B1/CYP11B2 and adrenodoxin/ferredoxin-1 exhibit electrostatic interactions at K370 in CYP11B1 and at K366 in CYP11B2 mutant R366K with D79 in adrenodoxin/ferredoxin-1. (CYP11B1 = cytochrome P450 family 11 subfamily B member 1; CYP11B2 = cytochrome P450 family 11 subfamily B member 2) | Molecular Recognition in Mitochondrial Cytochromes P450 That Catalyze the Terminal Steps of Corticosteroid Biosynthesis.
Peng HM, Auchus RJ., Free PMC Article | 06/24/2017 |
| analysis of CYP11B1 gene mutations in Turkish patients with 11-beta hydroxylase deficiency | Novel and prevalent CYP11B1 gene mutations in Turkish patients with 11-β hydroxylase deficiency.
Kandemir N, Yilmaz DY, Gonc EN, Ozon A, Alikasifoglu A, Dursun A, Ozgul RK. | 06/24/2017 |