PMC Articles for MedGen (Select 422448) - PMC

Paul Atherton, Ben Stutchbury, De-Yao Wang, Devina Jethwa, Ricky Tsang, Eugenia Meiler-Rodriguez, Pengbo Wang, Neil Bate, Roy Zent, Igor L. Barsukov, Benjamin T. Goult, David R. Critchley, Christoph Ballestrem

Nat Commun. 2015; 6: 10038. Published online 2015 Dec 4. doi: 10.1038/ncomms10038

PMCID:: PMC4686655

Article PDF–2.7M

Select item 45712915.

How Leiomodin and Tropomodulin use a common fold for different actin assembly functions

Malgorzata Boczkowska, Grzegorz Rebowski, Elena Kremneva, Pekka Lappalainen, Roberto Dominguez

Nat Commun. 2015; 6: 8314. Published online 2015 Sep 15. doi: 10.1038/ncomms9314

PMCID:: PMC4571291

Article PDF–4.1M

Select item 35038736.

The Over-Expression of an Arabidopsis B3 Transcription Factor, ABS2/NGAL1, Leads to the Loss of Flower Petals

Jingxia Shao, Xiayan Liu, Rui Wang, Gaisheng Zhang, Fei Yu

PLoS One. 2012; 7(11): e49861. Published online 2012 Nov 21. doi: 10.1371/journal.pone.0049861

PMCID:: PMC3503873

Article PDF–6.0M

Select item 2069987.

Specificity of Binding of the Plectin Actin-binding Domain to β4 Integrin

Sandy H.M. Litjens, Jan Koster, Ingrid Kuikman, Sandra van Wilpe, José M. de Pereda, Arnoud Sonnenberg

Mol Biol Cell. 2003 Oct; 14(10): 4039–4050. doi: 10.1091/mbc.E03-05-0268

PMCID:: PMC206998

Article PDF–1.1M

Select item 2066018.

Enhancer-like activity of A1gR1-binding site in alginate gene activation: positional, orientational, and sequence specificity.

S Fujiwara, N A Zielinski, A M Chakrabarty

J Bacteriol. 1993 Sep; 175(17): 5452–5459. doi: 10.1128/jb.175.17.5452-5459.1993

PMCID:: PMC206601

Summary Page Browse PDF–1.5M

Select item 97424679.

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

Article PDF–1.6M

Select item 932389810.

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

Article PDF–3.1M

Select item 930075911.

A spectrum of recessiveness among Mendelian disease variants in UK Biobank

Alison R. Barton, Margaux L.A. Hujoel, Ronen E. Mukamel, Maxwell A. Sherman, Po-Ru Loh

Am J Hum Genet. 2022 Jul 7; 109(7): 1298–1307. Published online 2022 May 31. doi: 10.1016/j.ajhg.2022.05.008

PMCID:: PMC9300759

Article PDF–4.9M

Select item 755043312.

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

Article PDF–1.0M

Select item 693786113.

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

Article PDF–5.6M

Select item 682530214.

Alternative pathway androgen biosynthesis and human fetal female virilization

Nicole Reisch, Angela E. Taylor, Edson F. Nogueira, Daniel J. Asby, Vivek Dhir, Andrew Berry, Nils Krone, Richard J. Auchus, Cedric H. L. Shackleton, Neil A. Hanley, Wiebke Arlt

Proc Natl Acad Sci U S A. 2019 Oct 29; 116(44): 22294–22299. Published online 2019 Oct 14. doi: 10.1073/pnas.1906623116

PMCID:: PMC6825302

Article PDF–1.1M

Select item 677079115.

Further Defining the Phenotypic Spectrum of B3GAT3 Mutations and Literature Review on Linkeropathy Syndromes

Marco Ritelli, Valeria Cinquina, Edoardo Giacopuzzi, Marina Venturini, Nicola Chiarelli, Marina Colombi

Genes (Basel) 2019 Sep; 10(9): 631. Published online 2019 Aug 21. doi: 10.3390/genes10090631

PMCID:: PMC6770791

Article PDF–2.0M

Select item 629221116.

Disorders of cholesterol metabolism and their unanticipated convergent mechanisms of disease

Frances M. Platt, Christopher Wassif, Alexandria Colaco, Andrea Dardis, Emyr Lloyd-Evans, Bruno Bembi, D. Forbes Porter

Annu Rev Genomics Hum Genet. Author manuscript; available in PMC 2018 Dec 13.

Published in final edited form as: Annu Rev Genomics Hum Genet. 2014; 15: 173–194. doi: 10.1146/annurev-genom-091212-153412

PMCID:: PMC6292211

Article PDF–943K

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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

Article PDF–1.2M

Select item 503404418.

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