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Select item 75504331.

Clinical and genetic analysis of cytochrome P450 oxidoreductase (POR) deficiency in a female and the analysis of a novel POR intron mutation causing alternative mRNA splicing: Overall analysis of a female with POR deficiency

Tao Zhang, Zhou Li, Xinling Ren, Bo Huang, Guijin Zhu, Wei Yang, Lei Jin

J Assist Reprod Genet. 2020 Oct; 37(10): 2503–2511. Published online 2020 Jul 28. doi: 10.1007/s10815-020-01899-z

PMCID:: PMC7550433

Abstract Article PDF–1.0M

Select item 73362612.

Clinical, endocrinological, and molecular features of four Korean cases of cytochrome P450 oxidoreductase deficiency

Yena Lee, Jin-Ho Choi, Arum Oh, Gu-Hwan Kim, Sook-Hyun Park, Jung Eun Moon, Cheol Woo Ko, Chong-Kun Cheon, Han-Wook Yoo

Ann Pediatr Endocrinol Metab. 2020 Jun; 25(2): 97–103. Published online 2020 Jun 30. doi: 10.6065/apem.1938152.076

PMCID:: PMC7336261

Abstract Article PDF–850K

Select item 73314143.

Compound heterozygous variants in POR gene identified by whole‐exome sequencing in a Chinese pedigree with cytochrome P450 oxidoreductase deficiency

Chanjuan Hao, Jun Guo, Ruolan Guo, Zhan Qi, Wei Li, Xin Ni

Pediatr Investig. 2018 Jun; 2(2): 90–95. Published online 2018 Jul 16. doi: 10.1002/ped4.12035

PMCID:: PMC7331414

Abstract Article PDF–11M

Select item 69378614.

Novel phenotypes and genotypes in Antley-Bixler syndrome caused by cytochrome P450 oxidoreductase deficiency: based on the first cohort of Chinese children

Lijun Fan, Xiaoya Ren, Yanning Song, Chang Su, Junfen Fu, Chunxiu Gong

Orphanet J Rare Dis. 2019; 14: 299. Published online 2019 Dec 30. doi: 10.1186/s13023-019-1283-2

PMCID:: PMC6937861

Abstract Article PDF–5.6M

Select item 53489105.

Cytochrome P450 oxidoreductase deficiency caused by R457H mutation in POR gene in Chinese: case report and literature review

Yang Bai, Jinhui Li, Xiaoli Wang

J Ovarian Res. 2017; 10: 16. Published online 2017 Mar 14. doi: 10.1186/s13048-017-0312-9

PMCID:: PMC5348910

Abstract Article PDF–1.2M

Select item 46879436.

Prenatal Diagnosis of Antley-Bixler Syndrome and POR Deficiency

Elena Oldani, Catherine Garel, Martine Bucourt, Lionel Carbillon

Am J Case Rep. 2015; 16: 882–885. Published online 2015 Dec 16. doi: 10.12659/AJCR.895526

PMCID:: PMC4687943

Abstract Article PDF–337K

Select item 31581787.

Structural basis for human NADPH-cytochrome P450 oxidoreductase deficiency

Chuanwu Xia, Satya P. Panda, Christopher C. Marohnic, Pavel Martásek, Bettie Sue Masters, Jung-Ja P. Kim

Proc Natl Acad Sci U S A. 2011 Aug 16; 108(33): 13486-13491. Published online 2011 Aug 1. doi: 10.1073/pnas.1106632108

PMCID:: PMC3158178

Abstract Article PDF–927K

Select item 28120588.

Human Cytochrome P450 Oxidoreductase Deficiency Caused by the Y181D Mutation: Molecular Consequences and Rescue of Defect

Christopher C. Marohnic, Satya P. Panda, Karen McCammon, José Rueff, Bettie Sue Siler Masters, Michel Kranendonk

Drug Metab Dispos. 2010 Feb; 38(2): 332–340. doi: 10.1124/dmd.109.030445

PMCID:: PMC2812058

Abstract Article PDF–1.1M

Select item 107418809.

Exploring Novel Variants of the Cytochrome P450 Reductase Gene (POR) from the Genome Aggregation Database by Integrating Bioinformatic Tools and Functional Assays

Maria Natalia Rojas Velazquez, Søren Therkelsen, Amit V. Pandey

Biomolecules. 2023 Dec; 13(12): 1728. Published online 2023 Nov 30. doi: 10.3390/biom13121728

PMCID:: PMC10741880

Abstract Article PDF–2.6M

Select item 1045380310.

Diagnostic challenges and management advances in cytochrome P450 oxidoreductase deficiency, a rare form of congenital adrenal hyperplasia, with 46, XX karyotype

Chunqing Wang, Qinjie Tian

Front Endocrinol (Lausanne) 2023; 14: 1226387. Published online 2023 Aug 11. doi: 10.3389/fendo.2023.1226387

PMCID:: PMC10453803

Abstract Article PDF–800K

Select item 982963411.

Congenital adrenal hyperplasia, disorders of sex development, and infertility in patients with POR gene pathogenic variants: a systematic review of the literature

C. Gusmano, R. Cannarella, A. Crafa, F. Barbagallo, S. La Vignera, R. A. Condorelli, A. E. Calogero

J Endocrinol Invest. 2023; 46(1): 1–14. Published online 2022 Jul 17. doi: 10.1007/s40618-022-01849-9

PMCID:: PMC9829634

Abstract Article PDF–1.0M

Select item 974246712.

Congenital adrenal hyperplasia due to P450 oxidoreductase deficiency

Jin Zhang, Kwan Leong Woo, Yongxiong Hai, Shimin Wang, Ying Lin, Ying Huang, Xiaofang Peng, HongShi Wu, Shaoling Zhang, Li Yan, Yan Li

Front Endocrinol (Lausanne) 2022; 13: 1020880. Published online 2022 Nov 28. doi: 10.3389/fendo.2022.1020880

PMCID:: PMC9742467

Abstract Article PDF–1.6M

Select item 932389813.

In Silico Analysis of PORD Mutations on the 3D Structure of P450 Oxidoreductase

Muhammad Nurhafizuddin, Aziemah Azizi, Long Chiau Ming, Naeem Shafqat

Molecules. 2022 Jul; 27(14): 4646. Published online 2022 Jul 21. doi: 10.3390/molecules27144646

PMCID:: PMC9323898

Abstract Article PDF–3.1M

Select item 752603114.

Combined homozygous 21 hydroxylase with heterozygous P450 oxidoreductase mutation in a Saudi boy presented with hypertension

Aida Aljabri, Fatimah Alnaim, Yasin Alsaleh

BMJ Case Rep. 2020; 13(9): e233942. Published online 2020 Sep 29. doi: 10.1136/bcr-2019-233942

PMCID:: PMC7526031

Abstract Article PDF–156K

Select item 676979315.

46,XX DSD Due to Androgen Excess in Monogenic Disorders of Steroidogenesis: Genetic, Biochemical, and Clinical Features

Federico Baronio, Rita Ortolano, Soara Menabò, Alessandra Cassio, Lilia Baldazzi, Valeria Di Natale, Giacomo Tonti, Benedetta Vestrucci, Antonio Balsamo

Int J Mol Sci. 2019 Sep; 20(18): 4605. Published online 2019 Sep 17. doi: 10.3390/ijms20184605

PMCID:: PMC6769793

Abstract Article PDF–1.9M

Select item 656751016.

Modification of Threonine-1050 of SlBRI1 regulates BR Signalling and increases fruit yield of tomato

Shufen Wang, Jianwei Liu, Tong Zhao, Chenxi Du, Shuming Nie, Yanyu Zhang, Siqi Lv, Shuhua Huang, Xiaofeng Wang

BMC Plant Biol. 2019; 19: 256. Published online 2019 Jun 13. doi: 10.1186/s12870-019-1869-9

PMCID:: PMC6567510

Abstract Article PDF–3.5M

Select item 542541217.

Tropomodulins and Leiomodins: Actin Pointed End Caps and Nucleators in Muscles

Velia M. Fowler, Roberto Dominguez

Biophys J. 2017 May 9; 112(9): 1742–1760. Published online 2017 May 9. doi: 10.1016/j.bpj.2017.03.034

PMCID:: PMC5425412

Abstract Article PDF–4.3M

Select item 541958818.

Nonlinear Viscoelasticity of Actin Transiently Cross-linked with Mutant α-Actinin-4

Norman Y. Yao, Daniel Becker, Chase P. Broedersz, Martin Depken, Frederick C. MacKintosh, Martin R. Pollak, David A. Weitz

J Mol Biol. Author manuscript; available in PMC 2017 May 5.

Published in final edited form as: J Mol Biol. 2011 Sep 2; 411(5): 1062–1071. Published online 2011 Jul 6. doi: 10.1016/j.jmb.2011.06.049

PMCID:: PMC5419588

Abstract Article PDF–583K

Select item 503404419.

Instability of the Human Cytochrome P450 Reductase A287P Variant Is the Major Contributor to Its Antley-Bixler Syndrome-like Phenotype

Karen M. McCammon, Satya P. Panda, Chuanwu Xia, Jung-Ja P. Kim, Daniela Moutinho, Michel Kranendonk, Richard J. Auchus, Eileen M. Lafer, Debashis Ghosh, Pavel Martasek, Rekha Kar, Bettie Sue Masters, Linda J. Roman

J Biol Chem. 2016 Sep 23; 291(39): 20487–20502. Published online 2016 Aug 5. doi: 10.1074/jbc.M116.716019