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Select item 110528001.

Clinical and molecular characterization of 10 Chinese children with congenital adrenal hyperplasia due to 11beta-hydroxylase deficiency

Wen-Li Lu, Xiao-Yu Ma, Jiao Zhang, Jun-Qi Wang, Ting-Ting Zhang, Lei Ye, Yuan Xiao, Zhi-Ya Dong, Wei Wang, Shou-Yue Sun, Chuan-Yin Li, Rong-Gui Hu, Guang Ning, Li-Dan Zhang

World J Pediatr. 2024; 20(4): 422–433. Published online 2023 Jul 24. doi: 10.1007/s12519-023-00739-1

Correction in:: World J Pediatr. 2024 Jan 19

PMCID:: PMC11052800

Abstract Article PDF–1.5M

Select item 92811002.

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

Abstract Article PDF–1.0M

Select item 85786553.

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

Abstract Article PDF–1.2M

Select item 79558404.

11β-Hydroxylase (CYP11B1) gene variants and new-onset depression in later life

Marie-Laure Ancelin, Joanna Norton, Karen Ritchie, Isabelle Chaudieu, Joanne Ryan

J Psychiatry Neurosci. 2021 Jan; 46(1): E147–E153. Prepublished online 2020 Nov 26. doi: 10.1503/jpn.190177

PMCID:: PMC7955840

Abstract Article PDF–107K

Select item 63338755.

Structure of human cortisol-producing cytochrome P450 11B1 bound to the breast cancer drug fadrozole provides insights for drug design

Simone Brixius-Anderko, Emily E. Scott

J Biol Chem. 2019 Jan 11; 294(2): 453–460. Published online 2018 Nov 13. doi: 10.1074/jbc.RA118.006214

PMCID:: PMC6333875

Abstract Article PDF–2.4M

Select item 59377686.

CYP11B1 has no role in mitotane action and metabolism in adrenocortical carcinoma cells

Antonina Germano, Laura Saba, Silvia De Francia, Ida Rapa, Paola Perotti, Alfredo Berruti, Marco Volante, Massimo Terzolo

PLoS One. 2018; 13(5): e0196931. Published online 2018 May 7. doi: 10.1371/journal.pone.0196931

PMCID:: PMC5937768

Abstract Article PDF–2.0M

Select item 59219817.

A novel chimeric CYP11B2/CYP11B1 combined with a new p.L340P CYP11B1 mutation in a patient with 11OHD: case report

Lian Duan, Rufei Shen, Lingyu Song, Yong Liao, Hongting Zheng

BMC Endocr Disord. 2018; 18: 23. Published online 2018 Apr 27. doi: 10.1186/s12902-018-0249-z

PMCID:: PMC5921981

Abstract Article PDF–15M

Select item 55940088.

Cortisol overproduction results from DNA methylation of CYP11B1 in hypercortisolemia

Mitsuhiro Kometani, Takashi Yoneda, Masashi Demura, Hiroshi Koide, Koshiro Nishimoto, Kuniaki Mukai, Celso E. Gomez-Sanchez, Tadayuki Akagi, Takashi Yokota, Shin-ichi Horike, Shigehiro Karashima, Isamu Miyamori, Masakazu Yamagishi, Yoshiyu Takeda

Sci Rep. 2017; 7: 11205. Published online 2017 Sep 11. doi: 10.1038/s41598-017-11435-2

PMCID:: PMC5594008

Abstract Article PDF–1.8M

Select item 53476069.

Clinical, genetic, and structural basis of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency

Ahmed Khattab, Shozeb Haider, Ameet Kumar, Samarth Dhawan, Dauood Alam, Raquel Romero, James Burns, Di Li, Jessica Estatico, Simran Rahi, Saleel Fatima, Ali Alzahrani, Mona Hafez, Noha Musa, Maryam Razzghy Azar, Najoua Khaloul, Moez Gribaa, Ali Saad, Ilhem Ben Charfeddine, Berenice Bilharinho de Mendonça, Alicia Belgorosky, Katja Dumic, Miroslav Dumic, Javier Aisenberg, Nurgun Kandemir, Ayfer Alikasifoglu, Alev Ozon, Nazli Gonc, Tina Cheng, Ursula Kuhnle-Krahl, Marco Cappa, Paul-Martin Holterhus, Munier A. Nour, Daniele Pacaud, Assaf Holtzman, Sun Li, Mone Zaidi, Tony Yuen, Maria I. New

Proc Natl Acad Sci U S A. 2017 Mar 7; 114(10): E1933–E1940. Published online 2017 Feb 22. doi: 10.1073/pnas.1621082114

PMCID:: PMC5347606

Abstract Article PDF–2.5M

Select item 399256010.

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

Abstract Article PDF–1.5M

Select item 284696011.

Functional Consequences of Seven Novel Mutations in the CYP11B1 Gene: Four Mutations Associated with Nonclassic and Three Mutations Causing Classic 11β-Hydroxylase Deficiency

Silvia Parajes, Lourdes Loidi, Nicole Reisch, Vivek Dhir, Ian T. Rose, Rainer Hampel, Marcus Quinkler, Gerard S. Conway, Lidia Castro-Feijóo, David Araujo-Vilar, Manuel Pombo, Fernando Dominguez, Emma L. Williams, Trevor R. Cole, Jeremy M. Kirk, Elke Kaminsky, Gill Rumsby, Wiebke Arlt, Nils Krone

J Clin Endocrinol Metab. 2010 Feb; 95(2): 779–788. Published online 2010 Jan 20. doi: 10.1210/jc.2009-0651

PMCID:: PMC2846960

Abstract Article

Select item 875084512.

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

Abstract Article PDF–1.7M

Select item 547135313.

Adrenal CYP11B1/2 expression in primary aldosteronism: Immunohistochemical analysis using novel monoclonal antibodies

Yasuhiro Nakamura, Takashi Maekawa, Saulo J.A. Felizola, Fumitoshi Satoh, Xin Qi, Carolina Velarde-Miranda, Maria W. Plonczynski, Kazue Ise, Kumi Kikuchi, William E. Rainey, Elise P. Gomez-Sanchez, Celso E. Gomez-Sanchez, Hironobu Sasano

Mol Cell Endocrinol. Author manuscript; available in PMC 2017 Jun 15.

Published in final edited form as: Mol Cell Endocrinol. 2014 Jul 5; 392(1-2): 73–79. Published online 2014 May 14. doi: 10.1016/j.mce.2014.05.002