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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 87508453.

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 86249494.

Molecular recognition in mitochondrial cytochromes P450 that catalyze the terminal steps of corticosteroid biosynthesis

Hwei-Ming Peng, Richard J. Auchus

Biochemistry. Author manuscript; available in PMC 2021 Nov 26.

Published in final edited form as: Biochemistry. 2017 May 2; 56(17): 2282–2293. Published online 2017 Apr 17. doi: 10.1021/acs.biochem.7b00034

PMCID:: PMC8624949

Abstract Article PDF–1.4M

Select item 85786555.

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 79558406.

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 67781377.

The midbody interactome reveals unexpected roles for PP1 phosphatases in cytokinesis

Luisa Capalbo, Zuni I. Bassi, Marco Geymonat, Sofia Todesca, Liviu Copoiu, Anton J. Enright, Giuliano Callaini, Maria Giovanna Riparbelli, Lu Yu, Jyoti S. Choudhary, Enrico Ferrero, Sally Wheatley, Max E. Douglas, Masanori Mishima, Pier Paolo D’Avino

Nat Commun. 2019; 10: 4513. Published online 2019 Oct 4. doi: 10.1038/s41467-019-12507-9

PMCID:: PMC6778137

Abstract Article PDF–7.8M

Select item 63338758.

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 59377689.

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 592198110.

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 559400811.

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 547135312.

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

PMCID:: PMC5471353

Abstract Article PDF–1.7M

Select item 534760613.

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 399256014.

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 395873715.

Deficiency of ALADIN Impairs Redox Homeostasis in Human Adrenal Cells and Inhibits Steroidogenesis

R. Prasad, L. A. Metherell, A. J. Clark, H. L. Storr

Endocrinology. 2013 Sep; 154(9): 3209–3218. Published online 2013 Jul 3. doi: 10.1210/en.2013-1241

PMCID:: PMC3958737

Abstract Article

Select item 317805916.

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas

Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042

PMCID:: PMC3178059

Abstract Article PDF–1.0M

Select item 294516817.

Variation at the NFATC2 Locus Increases the Risk of Thiazolidinedione-Induced Edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) Study

Swneke D. Bailey, Changchun Xie, Ron Do, Alexandre Montpetit, Rafael Diaz, Viswanathan Mohan, Bernard Keavney, Salim Yusuf, Hertzel C. Gerstein, James C. Engert, Sonia Anand, on behalf of the DREAM investigators

Diabetes Care. 2010 Oct; 33(10): 2250–2253. Published online 2010 Jul 13. doi: 10.2337/dc10-0452

PMCID:: PMC2945168

Abstract Article PDF–153K

Select item 294347618.

Genetic Variants in Nuclear-Encoded Mitochondrial Genes Influence AIDS Progression

Sher L. Hendrickson, James A. Lautenberger, Leslie Wei Chinn, Michael Malasky, Efe Sezgin, Lawrence A. Kingsley, James J. Goedert, Gregory D. Kirk, Edward D. Gomperts, Susan P. Buchbinder, Jennifer L. Troyer, Stephen J. O'Brien

PLoS One. 2010; 5(9): e12862. Published online 2010 Sep 21. doi: 10.1371/journal.pone.0012862

PMCID:: PMC2943476

Abstract Article PDF–461K

Select item 292379819.

Genetic Analyses of the Chimeric CYP11B1/CYP11B2 Gene in a Korean Family with Glucocorticoid-Remediable Aldosteronism

Ihn Suk Lee, Seul Young Kim, Hye Won Jang, Min Kyeong Kim, Ju Hee Lee, Yun Hyeong Lee, Young Suk Jo

J Korean Med Sci. 2010 Sep; 25(9): 1379–1383. Published online 2010 Aug 14. doi: 10.3346/jkms.2010.25.9.1379

PMCID:: PMC2923798

Abstract Article PDF–564K

Select item 288414820.

Genetic Variants in the Renin-Angiotensin-Aldosterone System and Salt-Sensitivity of Blood Pressure

Dongfeng Gu, Tanika N. Kelly, James E. Hixson, Jing Chen, Depei Liu, Ji-chun Chen, Dabeeru C. Rao, Jianjun Mu, Jixiang Ma, Cashell E. Jaquish, Treva K. Rice, Charles Gu, L. Lee Hamm, Paul K. Whelton, Jiang He

J Hypertens. Author manuscript; available in PMC 2010 Jun 12.

Published in final edited form as: J Hypertens. 2010 Jun; 28(6): 1210–1220.

PMCID:: PMC2884148

Abstract Article PDF–1.8M

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