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Items: 1 to 20 of 89

1.
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
AbstractArticlePDF–3.9M
2.
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
AbstractArticlePDF–1.5M
3.
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
AbstractArticlePDF–184K
4.
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
AbstractArticlePDF–2.4M
5.
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
AbstractArticlePDF–752K
6.
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
AbstractArticlePDF–3.6M
7.
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
AbstractArticlePDF–1.9M
8.
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
AbstractArticlePDF–853K
9.
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
AbstractArticlePDF–1.1M
10.
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
AbstractArticlePDF–475K
11.
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
AbstractArticlePDF–925K
12.
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
AbstractArticlePDF–560K
13.
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
AbstractArticlePDF–925K
14.
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
PMCID:
PMC7169983
AbstractArticlePDF–5.4M
15.
High-Throughput Screening for CYP21A1P-TNXA/TNXB Chimeric Genes Responsible for Ehlers-Danlos Syndrome in Patients with Congenital Adrenal Hyperplasia
Qizong Lao, Brittany Brookner, Deborah P. Merke
J Mol Diagn. 2019 Sep; 21(5): 924–931. doi: 10.1016/j.jmoldx.2019.06.001
PMCID:
PMC6734858
AbstractArticlePDF–873K
16.
Complement component 4 variations may influence psychopathology risk in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Qizong Lao, Marcia Des Jardin, Rahul Jayakrishnan, Monique Ernst, Deborah Merke
Hum Genet. Author manuscript; available in PMC 2019 Aug 21.
Published in final edited form as: Hum Genet. 2018 Dec; 137(11-12): 955–960. Published online 2018 Nov 21. doi: 10.1007/s00439-018-1959-z
PMCID:
PMC6702947
AbstractArticlePDF–309K
17.
Revisiting the association of HLA alleles and haplotypes with CYP21A2 mutations in a large cohort of patients with congenital adrenal hyperplasia
Rahul Jayakrishnan, Qizong Lao, Sharon D. Adams, William W. Ward, Deborah P. Merke
Gene. Author manuscript; available in PMC 2019 Aug 21.
Published in final edited form as: Gene. 2019 Mar 1; 687: 30–34. Published online 2018 Nov 9. doi: 10.1016/j.gene.2018.11.023
PMCID:
PMC6702941
AbstractArticlePDF–658K
18.
Genotype–phenotype correlation study and mutational and hormonal analysis in a Chinese cohort with 21‐hydroxylase deficiency
Chao Xu, Wenyu Jia, Xiangdeng Cheng, Hui Ying, Jing Chen, Jin Xu, Qingbo Guan, Xinli Zhou, Dongmei Zheng, Guimei Li, Jiajun Zhao
Mol Genet Genomic Med. 2019 Jun; 7(6): e671. Published online 2019 Apr 9. doi: 10.1002/mgg3.671
PMCID:
PMC6565591
AbstractArticlePDF–1.6M
19.
Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei
Domenico Fasci, Hugo van Ingen, Richard A. Scheltema, Albert J. R. Heck
Mol Cell Proteomics. 2018 Oct; 17(10): 2018–2033. Published online 2018 Jul 18. doi: 10.1074/mcp.RA118.000924
PMCID:
PMC6166682
AbstractArticlePDF–3.8M
20.
Identification of a novel compound heterozygous mutation of the CYP21A2 gene causing 21-hydroxylase deficiency in a Chinese pedigree
Jia Liu, Xiujuan Zhang, Haiqing Zhang, Li Fang, Jin Xu, Qingbo Guan, Chao Xu
Mol Med Rep. 2018 Mar; 17(3): 4265–4272. Published online 2018 Jan 8. doi: 10.3892/mmr.2018.8391
PMCID:
PMC5802198
AbstractArticlePDF–1.3M

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