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Select item 71711311.

Correction: Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: functional consequences of four CYP11B1 mutations

Soara Menabò, Seher Polat, Lilia Baldazzi, Alexandra E. Kulle, Paul-Martin Holterhus, Joachim Grötzinger, Flaminia Fanelli, Antonio Balsamo, Felix G. Riepe

Eur J Hum Genet. 2020 May; 28(5): 692. Published online 2020 Feb 18. doi: 10.1038/s41431-020-0587-y

Corrects:: Eur J Hum Genet. 2014 May; 22(5): 610–616.

PMCID:: PMC7171131

Correction PDF–187K

Select item 50912772.

Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: description of a new mutation, R384X

Audrey Mary Matallana-Rhoades, Juan David Corredor-Castro, Francisco Javier Bonilla-Escobar, Bony Valentina Mecias-Cruz, Liliana Mejia de Beldjena

Colomb Med (Cali) 2016 Jul-Sep; 47(3): 172–175. Published online 2016 Sep 30.

PMCID:: PMC5091277

Article PDF–2.6M

Select item 39925603.

Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: functional consequences of four CYP11B1 mutations

Soara Menabò, Seher Polat, Lilia Baldazzi, Alexandra E Kulle, Paul-Martin Holterhus, Joachim Grötzinger, Flaminia Fanelli, Antonio Balsamo, Felix G Riepe

Eur J Hum Genet. 2014 May; 22(5): 610–616. Published online 2013 Sep 11. doi: 10.1038/ejhg.2013.197

Correction in:: Eur J Hum Genet. 2020 May; 28(5): 692.

PMCID:: PMC3992560

Article PDF–1.5M

Select item 16288104.

Salt loss in congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency.

Z Hochberg, A Benderly, Z Zadik

Arch Dis Child. 1984 Nov; 59(11): 1092–1094. doi: 10.1136/adc.59.11.1092

PMCID:: PMC1628810

Summary Page Browse PDF–520K

Select item 106793875.

Case Report: A combination of chimeric CYP11B2/CYP11B1 and a novel p.Val68Gly CYP11B1 variant causing 11β-Hydroxylase deficiency in a Chinese patient

Jialin Li, Fenglan Zhang, Miao Xu, Hao Qiu, Cheng Zhou, Li Li, Lan Qin

Front Endocrinol (Lausanne) 2023; 14: 1216767. Published online 2023 Nov 13. doi: 10.3389/fendo.2023.1216767

PMCID:: PMC10679387

Article PDF–1.0M

Select item 103997096.

Immune escape of colorectal tumours via local LRH‐1/Cyp11b1‐mediated synthesis of immunosuppressive glucocorticoids

Asma Ahmed, Cindy Reinhold, Eileen Breunig, Truong San Phan, Lea Dietrich, Feodora Kostadinova, Corinne Urwyler, Verena M. Merk, Mario Noti, Israel Toja da Silva, Konstantin Bode, Fatima Nahle, Anna Pia Plazzo, Julia Koerner, Regula Stuber, Constantin Menche, Eva Karamitopoulou, Henner F. Farin, Kenneth J. Gollob, Thomas Brunner

Mol Oncol. 2023 Aug; 17(8): 1545–1566. Published online 2023 Mar 9. doi: 10.1002/1878-0261.13414

PMCID:: PMC10399709

Article PDF–3.7M

Select item 102491317.

Case Report: A Novel Mutation Leading to 11-β Hydroxylase Deficiency in a Female Patient

Burak Ozbas, Mikail Demir, Huseyin Dursun, Izem Sahin, Aysa Hacioglu, Zuleyha Karaca, Munis Dundar, Kursad Unluhizarci

Endocr Metab Immune Disord Drug Targets. 2023 Apr 5; 23(5): 721–726. Published online 2023 Apr 5. doi: 10.2174/1871530322666221007145410

PMCID:: PMC10249131

Article PDF–3.9M

Select item 101932528.

Corrigendum: Challenges in the treatment of late-identified untreated congenital adrenal hyperplasia due to CYP11B1 deficiency: Lessons from a developing country

Agustini Utari, Sultana M. H. Faradz, Annastasia Ediati, Tuula Rinne, Mahayu Dewi Ariani, Achmad Zulfa Juniarto, Stenvert L. S. Drop, Antonius E. van Herwaarden, Hedi L. Claahsen-van der Grinten

Front Endocrinol (Lausanne) 2023; 14: 1210892. Published online 2023 May 4. doi: 10.3389/fendo.2023.1210892

Corrects:: Front Endocrinol (Lausanne). 2022; 13: 1015973.

PMCID:: PMC10193252

Correction PDF–223K

Select item 101503009.

Pregnancy in a woman with congenital adrenal hyperplasia with 11-beta-hydroxylase deficiency: A case report

Kavitha Krishnan, Silja Pillai, Gowri Vaidyanathan

Obstet Med. 2023 Mar; 16(1): 66–68. Published online 2021 Sep 24. doi: 10.1177/1753495X211042729

PMCID:: PMC10150300

Article PDF–528K

Select item 1005457110.

Molecular and Epigenetic Control of Aldosterone Synthase, CYP11B2 and 11-Hydroxylase, CYP11B1

Yoshimichi Takeda, Masashi Demura, Mitsuhiro Kometani, Shigehiro Karashima, Takashi Yoneda, Yoshiyu Takeda

Int J Mol Sci. 2023 Mar; 24(6): 5782. Published online 2023 Mar 17. doi: 10.3390/ijms24065782

PMCID:: PMC10054571

Article PDF–2.4M

Select item 980322811.

Ectopic localization of CYP11B1 and CYP11B2-expressing cells in the normal human adrenal gland

Céline Duparc, Paméla Camponova, Malanie Roy, Hervé Lefebvre, Michaël Thomas

PLoS One. 2022; 17(12): e0279682. Published online 2022 Dec 30. doi: 10.1371/journal.pone.0279682

PMCID:: PMC9803228

Article PDF–5.1M

Select item 979780312.

Challenges in the treatment of late-identified untreated congenital adrenal hyperplasia due to CYP11B1 deficiency: Lessons from a developing country

Agustini Utari, Sultana M. H. Faradz, Annastasia Ediati, Tuula Rinne, Mahayu Dewi Ariani, Achmad Zulfa Juniarto, Stenvert L. S. Drop, Antonius E. van Herwaarden, Hedi L. Claahsen-van der Grinten

Front Endocrinol (Lausanne) 2022; 13: 1015973. Published online 2022 Dec 15. doi: 10.3389/fendo.2022.1015973

Correction in:: Front Endocrinol (Lausanne). 2023; 14: 1210892.

PMCID:: PMC9797803

Article PDF–2.1M

Select item 975290513.

CYP11B1 gene polymorphisms and susceptibility to ischemic stroke in a Chinese Han population

Gaowen Liu, Ying Duan

Front Neurosci. 2022; 16: 1030551. Published online 2022 Dec 1. doi: 10.3389/fnins.2022.1030551

PMCID:: PMC9752905

Article PDF–521K

Select item 970190414.

Dual Heterozygous Mutations in CYP21A2 and CYP11B1 in a Case of Nonclassic Congenital Adrenal Hyperplasia

Eric D. Frontera, Joshua J. Brown, Hagop Ghareebian, Cary Mariash

AACE Clin Case Rep. 2022 Nov-Dec; 8(6): 271–274. Published online 2022 Oct 21. doi: 10.1016/j.aace.2022.10.003

PMCID:: PMC9701904

Article PDF–435K

Select item 928110015.

Genetic variants in CYP11B1 influence the susceptibility to coronary heart disease

Xiaoli Huang, Yimin Cheng, Na Wang

BMC Med Genomics. 2022; 15: 158. Published online 2022 Jul 13. doi: 10.1186/s12920-022-01307-8

PMCID:: PMC9281100

Article PDF–1.0M

Select item 917138316.

Detection of Small CYP11B1 Deletions and One Founder Chimeric CYP11B2/CYP11B1 Gene in 11β-Hydroxylase Deficiency

Hua Xie, Hui Yin, Xue Ye, Ying Liu, Na Liu, Yu Zhang, Xiaoli Chen, Xiaobo Chen

Front Endocrinol (Lausanne) 2022; 13: 882863. Published online 2022 May 24. doi: 10.3389/fendo.2022.882863

PMCID:: PMC9171383

Article PDF–2.0M

Select item 903905317.

Exploration of KCNJ5 Somatic Mutation and CYP11B1/CYP11B2 Staining in Multiple Nodules in Primary Aldosteronism

Jing Xie, Cui Zhang, Xuefeng Wang, Yiran Jiang, Luming Wu, Lei Ye, Xuan Wang, Wen Xie, Haimin Xu, Weiqing Wang

Front Med (Lausanne) 2022; 9: 823065. Published online 2022 Apr 12. doi: 10.3389/fmed.2022.823065

PMCID:: PMC9039053

Article PDF–2.1M

Select item 875084518.

GRAde: a long-read sequencing approach to efficiently identifying the CYP11B1/CYP11B2 chimeric form in patients with glucocorticoid-remediable aldosteronism

Yu-Ching Wu, Chia-I Chen, Peng-Ying Chen, Chun-Hung Kuo, Yi-Hsuan Hung, Kang-Yung Peng, Vin-Cent Wu, Jyy-Jih Tsai-Wu, Chia-Lang Hsu, TAIPAI group

BMC Bioinformatics. 2021; 22(Suppl 10): 613. Published online 2022 Jan 10. doi: 10.1186/s12859-022-04561-w

PMCID:: PMC8750845

Article PDF–1.7M

Select item 857865519.

CYP11B1 variants influence skeletal maturation via alternative splicing

Olja Grgic, Matthew R. Gazzara, Alessandra Chesi, Carolina Medina-Gomez, Diana L. Cousminer, Jonathan A. Mitchell, Vid Prijatelj, Jard de Vries, Enisa Shevroja, Shana E. McCormack, Heidi J. Kalkwarf, Joan M. Lappe, Vicente Gilsanz, Sharon E. Oberfield, John A. Shepherd, Andrea Kelly, Soroosh Mahboubi, Fabio R. Faucz, Richard A. Feelders, Frank H. de Jong, Andre G. Uitterlinden, Jenny A. Visser, Louis R. Ghanem, Eppo B. Wolvius, Leo J. Hofland, Constantine A. Stratakis, Babette S. Zemel, Yoseph Barash, Struan F. A. Grant, Fernando Rivadeneira

Commun Biol. 2021; 4: 1274. Published online 2021 Nov 9. doi: 10.1038/s42003-021-02774-y

PMCID:: PMC8578655

Article PDF–1.2M

Select item 849778720.

Immunohistochemical Analysis of CYP11B2, CYP11B1 and β-catenin Helps Subtyping and Relates With Clinical Characteristics of Unilateral Primary Aldosteronism

Luyan Sun, Yiran Jiang, Jing Xie, Hongyuan Zhu, Luming Wu, Xu Zhong, Weiwei Zhou, Tingwei Su, Weiqing Wang

Front Mol Biosci. 2021; 8: 751770. Published online 2021 Sep 24. doi: 10.3389/fmolb.2021.751770

PMCID:: PMC8497787

Article PDF–2.1M

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