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Select item 102662091.

The pathogenic p.Gln319Ter variant is not causing congenital adrenal hyperplasia when inherited in one of the duplicated CYP21A2 genes

Pavlos Fanis, Nicos Skordis, Meropi Toumba, Michalis Picolos, George A. Tanteles, Vassos Neocleous, Leonidas A. Phylactou

Front Endocrinol (Lausanne) 2023; 14: 1156616. Published online 2023 May 31. doi: 10.3389/fendo.2023.1156616

PMCID:: PMC10266209

Abstract Article PDF–3.9M

Select item 100339372.

Assessment of community efforts to advance network-based prediction of protein–protein interactions

Xu-Wen Wang, Lorenzo Madeddu, Kerstin Spirohn, Leonardo Martini, Adriano Fazzone, Luca Becchetti, Thomas P. Wytock, István A. Kovács, Olivér M. Balogh, Bettina Benczik, Mátyás Pétervári, Bence Ágg, Péter Ferdinandy, Loan Vulliard, Jörg Menche, Stefania Colonnese, Manuela Petti, Gaetano Scarano, Francesca Cuomo, Tong Hao, Florent Laval, Luc Willems, Jean-Claude Twizere, Marc Vidal, Michael A. Calderwood, Enrico Petrillo, Albert-László Barabási, Edwin K. Silverman, Joseph Loscalzo, Paola Velardi, Yang-Yu Liu

Nat Commun. 2023; 14: 1582. Published online 2023 Mar 22. doi: 10.1038/s41467-023-37079-7

PMCID:: PMC10033937

Abstract Article PDF–1.5M

Select item 98329013.

Differences in hormonal levels between heterozygous CYP21A2 pathogenic variant carriers, non-carriers, and females with non-classic congenital hyperplasia

Rita Santos Silva, Berta Carvalho, Jorge Pedro, Cíntia Castro-Correia, Davide Carvalho, Filipa Carvalho, Manuel Fontoura

Arch Endocrinol Metab. 2022 Mar-Apr; 66(2): 168–175. Published online 2022 Mar 16. doi: 10.20945/2359-3997000000437

PMCID:: PMC9832901

Abstract Article PDF–184K

Select item 89000724.

17-Hydroxyprogesterone Response to Standard Dose Synacthen Stimulation Test in CYP21A2 Heterozygous Carriers and Non-carriers in Symptomatic and Asymptomatic Groups: Meta-analyses

Seher Polat, Yusuf Kemal Arslan

J Clin Res Pediatr Endocrinol. 2022 Mar; 14(1): 56–68. Published online 2022 Mar 3. doi: 10.4274/jcrpe.galenos.2021.2021.0184

PMCID:: PMC8900072

Abstract Article PDF–2.4M

Select item 88187465.

Characteristics of In2G Variant in Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency

Mirjana Kocova, Paola Concolino, Henrik Falhammar

Front Endocrinol (Lausanne) 2021; 12: 788812. Published online 2022 Jan 24. doi: 10.3389/fendo.2021.788812

PMCID:: PMC8818746

Abstract Article PDF–752K

Select item 87452126.

Characterization of Mutations Causing CYP21A2 Deficiency in Brazilian and Portuguese Populations

Mayara J. Prado, Shripriya Singh, Rodrigo Ligabue-Braun, Bruna V. Meneghetti, Thaiane Rispoli, Cristiane Kopacek, Karina Monteiro, Arnaldo Zaha, Maria L. R. Rossetti, Amit V. Pandey

Int J Mol Sci. 2022 Jan; 23(1): 296. Published online 2021 Dec 28. doi: 10.3390/ijms23010296

PMCID:: PMC8745212

Abstract Article PDF–3.6M

Select item 82114247.

Corticosteroid Biosynthesis Revisited: No Direct Hydroxylation of Pregnenolone by Steroid 21-Hydroxylase

Steffen Loke, Anna Stoll, David Machalz, Francesco Botrè, Gerhard Wolber, Matthias Bureik, Maria Kristina Parr

Front Endocrinol (Lausanne) 2021; 12: 633785. Published online 2021 Jun 3. doi: 10.3389/fendo.2021.633785

PMCID:: PMC8211424

Abstract Article PDF–1.9M

Select item 81473468.

Steroid 21-hydroxylase gene variants and late-life depression

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

BMC Res Notes. 2021; 14: 203. Published online 2021 May 25. doi: 10.1186/s13104-021-05616-6

PMCID:: PMC8147346

Abstract Article PDF–853K

Select item 80525199.

The natural history of 21-hydroxylase autoantibodies in autoimmune Addison’s disease

Anette Boe Wolff, Lars Breivik, Karl Ove Hufthammer, Marianne Aardal Grytaas, Eirik Bratland, Eystein Sverre Husebye, Bergithe Eikeland Oftedal

Eur J Endocrinol. 2021 Apr; 184(4): 607–615. Published online 2021 Jan 29. doi: 10.1530/EJE-20-1268

PMCID:: PMC8052519

Abstract Article PDF–1.1M

Select item 766730310.

The spectrum of CYP21A2 gene mutations in patients with classic salt wasting form of 2l‐hydroxylase deficiency in a Chinese cohort

Yang Liu, Jie Zheng, Nan Liu, Xiaowei Xu, Xinjie Zhang, Ying Zhang, Guoxu Li, Geli Liu, Chunquan Cai, Jianbo Shu

Mol Genet Genomic Med. 2020 Nov; 8(11): e1501. Published online 2020 Sep 21. doi: 10.1002/mgg3.1501

PMCID:: PMC7667303

Abstract Article PDF–475K

Select item 765388711.

Molecular diagnosis of patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Tania Mayvel Espinosa Reyes, Teresa Collazo Mesa, Paulina Arasely Lantigua Cruz, Adriana Agramonte Machado, Emma Domínguez Alonso, Henrik Falhammar

BMC Endocr Disord. 2020; 20: 165. Published online 2020 Nov 9. doi: 10.1186/s12902-020-00643-z

PMCID:: PMC7653887

Abstract Article PDF–925K

Select item 751768212.

Exploration of CYP21A2 and CYP17A1 polymorphisms and preeclampsia risk among Chinese Han population: a large-scale case-control study based on 5021 subjects

Bo Hou, Xuewen Jia, Ziwen Deng, Xin Liu, Huitang Liu, Haichu Yu, Shiguo Liu

Hum Genomics. 2020; 14: 33. Published online 2020 Sep 25. doi: 10.1186/s40246-020-00286-0

PMCID:: PMC7517682

Abstract Article PDF–560K

Select item 740305213.

新疆维吾尔族儿童21-羟化酶缺乏症基因型与表型的研究

李静, 罗燕飞, 米热古丽·买买提

Zhongguo Dang Dai Er Ke Za Zhi. 2016 Feb 15; 18(2): 141–146. Chinese. doi: 10.7499/j.issn.1008-8830.2016.02.009

PMCID:: PMC7403052

Abstract Article PDF–925K

Select item 716998314.

A reference map of the human binary protein interactome

Katja Luck, Dae-Kyum Kim, Luke Lambourne, Kerstin Spirohn, Bridget E. Begg, Wenting Bian, Ruth Brignall, Tiziana Cafarelli, Francisco J. Campos-Laborie, Benoit Charloteaux, Dongsic Choi, Atina G. Coté, Meaghan Daley, Steven Deimling, Alice Desbuleux, Amélie Dricot, Marinella Gebbia, Madeleine F. Hardy, Nishka Kishore, Jennifer J. Knapp, István A. Kovács, Irma Lemmens, Miles W. Mee, Joseph C. Mellor, Carl Pollis, Carles Pons, Aaron D. Richardson, Sadie Schlabach, Bridget Teeking, Anupama Yadav, Mariana Babor, Dawit Balcha, Omer Basha, Christian Bowman-Colin, Suet-Feung Chin, Soon Gang Choi, Claudia Colabella, Georges Coppin, Cassandra D’Amata, David De Ridder, Steffi De Rouck, Miquel Duran-Frigola, Hanane Ennajdaoui, Florian Goebels, Liana Goehring, Anjali Gopal, Ghazal Haddad, Elodie Hatchi, Mohamed Helmy, Yves Jacob, Yoseph Kassa, Serena Landini, Roujia Li, Natascha van Lieshout, Andrew MacWilliams, Dylan Markey, Joseph N. Paulson, Sudharshan Rangarajan, John Rasla, Ashyad Rayhan, Thomas Rolland, Adriana San-Miguel, Yun Shen, Dayag Sheykhkarimli, Gloria M. Sheynkman, Eyal Simonovsky, Murat Taşan, Alexander Tejeda, Vincent Tropepe, Jean-Claude Twizere, Yang Wang, Robert J. Weatheritt, Jochen Weile, Yu Xia, Xinping Yang, Esti Yeger-Lotem, Quan Zhong, Patrick Aloy, Gary D. Bader, Javier De Las Rivas, Suzanne Gaudet, Tong Hao, Janusz Rak, Jan Tavernier, David E. Hill, Marc Vidal, Frederick P. Roth, Michael A. Calderwood

Nature. Author manuscript; available in PMC 2020 Oct 8.

Published in final edited form as: Nature. 2020 Apr; 580(7803): 402–408. Published online 2020 Apr 8. doi: 10.1038/s41586-020-2188-x