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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 98329012.

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 89000723.

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 88187464.

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 87452125.

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 82114246.

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 81473467.

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 80525198.

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 76673039.

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 765388710.

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 740305211.

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 670294112.

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

Abstract Article PDF–658K

Select item 656559113.

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

Abstract Article PDF–1.6M

Select item 580219814.

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

Abstract Article PDF–1.3M

Select item 565837815.

Steroid hormone profiling in obese and nonobese women with polycystic ovary syndrome

Yuying Deng, Yifei Zhang, Shengxian Li, Wenzhong Zhou, Lei Ye, Lihua Wang, Tao Tao, Junjie Gu, Zuwei Yang, Dandan Zhao, Weiqiong Gu, Jie Hong, Guang Ning, Wei Liu, Weiqing Wang

Sci Rep. 2017; 7: 14156. Published online 2017 Oct 26. doi: 10.1038/s41598-017-14534-2

PMCID:: PMC5658378

Abstract Article PDF–1.1M

Select item 553668016.

Molecular diagnosis of Chinese patients with 21-hydroxylase deficiency and analysis of genotype–phenotype correlations

Bo Zhang, Lin Lu, Zhaolin Lu

J Int Med Res. 2017 Apr; 45(2): 481–492. Published online 2017 Feb 2. doi: 10.1177/0300060516685204

PMCID:: PMC5536680

Abstract Article PDF–169K

Select item 550105117.

Prenatal diagnosis of steroid 21-hydroxylase-deficient congenital adrenal hyperplasia: Experience from a tertiary care centre in India

Sudhisha Dubey, Veronique Tardy, Madhumita Roy Chowdhury, Neerja Gupta, Vandana Jain, Deepika Deka, Pankaj Sharma, Yves Morel, Madhulika Kabra

Indian J Med Res. 2017 Feb; 145(2): 194–202. doi: 10.4103/ijmr.IJMR_329_16

PMCID:: PMC5501051

Abstract Article PDF–2.0M

Select item 549176418.

Functional analysis of human cytochrome P450 21A2 variants involved in congenital adrenal hyperplasia

Chunxue Wang, Pradeep S. Pallan, Wei Zhang, Li Lei, Francis K. Yoshimoto, Michael R. Waterman, Martin Egli, F. Peter Guengerich

J Biol Chem. 2017 Jun 30; 292(26): 10767–10778. Published online 2017 May 24. doi: 10.1074/jbc.M117.792465

PMCID:: PMC5491764

Abstract Article PDF–2.2M

Select item 547736619.

A unique haplotype of RCCX copy number variation: from the clinics of congenital adrenal hyperplasia to evolutionary genetics

Márton Doleschall, Andrea Luczay, Klára Koncz, Kinga Hadzsiev, Éva Erhardt, Ágnes Szilágyi, Zoltán Doleschall, Krisztina Németh, Dóra Török, Zoltán Prohászka, Balázs Gereben, György Fekete, Edit Gláz, Péter Igaz, Márta Korbonits, Miklós Tóth, Károly Rácz, Attila Patócs

Eur J Hum Genet. 2017 Jun; 25(6): 702–710. Published online 2017 Apr 12. doi: 10.1038/ejhg.2017.38

PMCID:: PMC5477366

Abstract Article PDF–1.4M

Select item 515542420.

Structure-based activity prediction of CYP21A2 stability variants: A survey of available gene variations

Carlos D. Bruque, Marisol Delea, Cecilia S. Fernández, Juan V. Orza, Melisa Taboas, Noemí Buzzalino, Lucía D. Espeche, Andrea Solari, Verónica Luccerini, Liliana Alba, Alejandro D. Nadra, Liliana Dain

Sci Rep. 2016; 6: 39082. Published online 2016 Dec 14. doi: 10.1038/srep39082