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Items: 1 to 20 of 35

1.
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
AbstractArticlePDF–1.5M
2.
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
AbstractArticlePDF–1.0M
3.
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
AbstractArticlePDF–1.7M
4.
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
AbstractArticlePDF–1.4M
5.
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
AbstractArticlePDF–1.2M
6.
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
AbstractArticlePDF–107K
7.
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
AbstractArticlePDF–7.8M
8.
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
AbstractArticlePDF–2.4M
9.
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
AbstractArticlePDF–2.0M
10.
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
AbstractArticlePDF–15M
11.
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
AbstractArticlePDF–1.8M
12.
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
AbstractArticlePDF–1.7M
13.
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
AbstractArticlePDF–2.5M
14.
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
AbstractArticlePDF–1.5M
15.
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
AbstractArticle
16.
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
AbstractArticlePDF–1.0M
17.
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
AbstractArticlePDF–153K
18.
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
AbstractArticlePDF–461K
19.
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
AbstractArticlePDF–564K
20.
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
AbstractArticlePDF–1.8M

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