PMC Articles for MedGen (Select 764630) - PMC

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Items: 13

Select item 35644901.

Role of a Disordered Steroid Metabolome in the Elucidation of Sterol and Steroid Biosynthesis

Cedric H. L. Shackleton

Lipids. Author manuscript; available in PMC 2013 Feb 5.

Published in final edited form as: Lipids. 2012 Jan; 47(1): 1–12. Published online 2011 Aug 27. doi: 10.1007/s11745-011-3605-6

PMCID:: PMC3564490

Article PDF–2.6M

Select item 35474892.

Novel H6PDH mutations in two girls with premature adrenarche: ‘apparent’ and ‘true’ CRD can be differentiated by urinary steroid profiling

G G Lavery, J Idkowiak, M Sherlock, I Bujalska, J P Ride, K Saqib, M F Hartmann, B Hughes, S A Wudy, J De Schepper, W Arlt, N Krone, C H Shackleton, E A Walker, P M Stewart

Eur J Endocrinol. 2013 Feb; 168(2): K19–K26. Prepublished online 2012 Oct 8. doi: 10.1530/EJE-12-0628

PMCID:: PMC3547489

Article PDF–211K

Select item 18524823.

HEXOSE 6-PHOSPHATE DEHYDROGENASE (H6PD) AND CORTICOSTEROID METABOLISM

Perrin C White, Daniela Rogoff, D Randy McMillan, Gareth G Lavery

Mol Cell Endocrinol. Author manuscript; available in PMC 2008 Feb 26.

Published in final edited form as: Mol Cell Endocrinol. 2007 Feb; 265-266: 89–92. Published online 2007 Jan 19. doi: 10.1016/j.mce.2006.12.022

PMCID:: PMC1852482

Article PDF–45K

Select item 29418394.

Gas chromatography/mass spectrometry (GC/MS) remains a pre-eminent discovery tool in clinical steroid investigations even in the era of fast liquid chromatography tandem mass spectrometry (LC/MS/MS)

Nils Krone, Beverly A. Hughes, Gareth G. Lavery, Paul M. Stewart, Wiebke Arlt, Cedric H.L. Shackleton

J Steroid Biochem Mol Biol. 2010 Aug; 121(3-5): 496–504. doi: 10.1016/j.jsbmb.2010.04.010

PMCID:: PMC2941839

Article

Select item 70319485.

Induction of the nicotinamide riboside kinase NAD⁺ salvage pathway in a model of sarcoplasmic reticulum dysfunction

Craig L. Doig, Agnieszka E. Zielinska, Rachel S. Fletcher, Lucy A. Oakey, Yasir S. Elhassan, Antje Garten, David Cartwright, Silke Heising, Ahmed Alsheri, David G. Watson, Cornelia Prehn, Jerzy Adamski, Daniel A. Tennant, Gareth G. Lavery

Skelet Muscle. 2020; 10: 5. Published online 2020 Feb 19. doi: 10.1186/s13395-019-0216-z

PMCID:: PMC7031948

Article PDF–2.0M

Select item 34276436.

Biomarkers of hypothalamic–pituitary–adrenal axis activity in mice lacking 11β-HSD1 and H6PDH

Lianne Abrahams, Nina M Semjonous, Phil Guest, Agnieszka Zielinska, Beverly Hughes, Gareth G Lavery, Paul M Stewart

J Endocrinol. 2012 Sep; 214(3): 367–372. Prepublished online 2012 Jun 20. doi: 10.1530/JOE-12-0178

PMCID:: PMC3427643

Article PDF–171K

Select item 33580397.

Association study of CYP17 and HSD11B1 in polycystic ovary syndrome utilizing comprehensive gene coverage

Angela K. Chua, Ricardo Azziz, Mark O. Goodarzi

Mol Hum Reprod. 2012 Jun; 18(6): 320–324. Published online 2012 Jan 10. doi: 10.1093/molehr/gas002

PMCID:: PMC3358039

Article PDF–193K

Select item 30540238.

Cortisone-reductase deficiency associated with heterozygous mutations in 11β-hydroxysteroid dehydrogenase type 1

Alexander J. Lawson, Elizabeth A. Walker, Gareth G. Lavery, Iwona J. Bujalska, Beverly Hughes, Wiebke Arlt, Paul M. Stewart, Jonathan P. Ride

Proc Natl Acad Sci U S A. 2011 Mar 8; 108(10): 4111–4116. Published online 2011 Feb 15. doi: 10.1073/pnas.1014934108

PMCID:: PMC3054023

Article PDF–590K

Select item 30239219.

Mutations of the hexose-6-phosphate dehydrogenase gene rarely cause hyperandrogenemic polycystic ovary syndrome

Kenan Qin, Robert L Rosenfield

Steroids. Author manuscript; available in PMC 2012 Jan 1.

Published in final edited form as: Steroids. 2011 Jan; 76(1-2): 135–139. Published online 2010 Nov 2. doi: 10.1016/j.steroids.2010.10.001

PMCID:: PMC3023921

Article PDF–535K

Select item 298731810.

Hexose-6-phosphate dehydrogenase: a new risk gene for multiple sclerosis

Antonio Alcina, Sreeram V Ramagopalan, Óscar Fernández, Antonio Catalá-Rabasa, María Fedetz, Dorothy Ndagire, Laura Leyva, Carmen Arnal, Concepción Delgado, Miguel Lucas, Guillermo Izquierdo, George C Ebers, Fuencisla Matesanz

Eur J Hum Genet. 2010 May; 18(5): 618–620. Published online 2009 Nov 25. doi: 10.1038/ejhg.2009.213

PMCID:: PMC2987318

Article PDF–171K

Select item 257965111.

Steroid Biomarkers and Genetic Studies Reveal Inactivating Mutations in Hexose-6-Phosphate Dehydrogenase in Patients with Cortisone Reductase Deficiency

Gareth G. Lavery, Elizabeth A. Walker, Ana Tiganescu, Jon P. Ride, Cedric H. L. Shackleton, Jeremy W. Tomlinson, John M. C. Connell, David W. Ray, Anna Biason-Lauber, Ewa M. Malunowicz, Wiebke Arlt, Paul M. Stewart

J Clin Endocrinol Metab. 2008 Oct; 93(10): 3827–3832. Published online 2008 Jul 15. doi: 10.1210/jc.2008-0743

PMCID:: PMC2579651

Article

Select item 241718712.

Deletion of Hexose-6-phosphate Dehydrogenase Activates the Unfolded Protein Response Pathway and Induces Skeletal Myopathy

Gareth G. Lavery, Elizabeth A. Walker, Nil Turan, Daniela Rogoff, Jeffery W. Ryder, John M. Shelton, James A. Richardson, Francesco Falciani, Perrin C. White, Paul M. Stewart, Keith L. Parker, Daniel R. McMillan

J Biol Chem. 2008 Mar 28; 283(13): 8453–8461. doi: 10.1074/jbc.M710067200