PMC Links for Gene (Select 25748) - PMC

Select item 36873451.

Circadian Rhythms in Acute Intermittent Porphyria—a Pilot Study

Sebastian Larion, F. Ryan Caballes, Sun-Il Hwang, Jin-Gyun Lee, Whitney Ellefson Rossman, Judy Parsons, Nury Steuerwald, Ting Li, Vinaya Maddukuri, Gale Groseclose, Carla V. Finkielstein, Herbert L. Bonkovsky

Eur J Clin Invest. Author manuscript; available in PMC 2014 Jul 1.

Published in final edited form as: Eur J Clin Invest. 2013 Jul; 43(7): 727–739. Published online 2013 May 8. doi: 10.1111/eci.12102

PMCID:: PMC3687345

Abstract Article PDF–1.2M

Select item 20407342.

Haem and drug-metabolizing enzymes in regenerating rat liver.

R. C. Srivastava, R. S. Dwivedi, G. Kaur, R. Srivastava

Br J Exp Pathol. 1982 Feb; 63(1): 1–4.

PMCID:: PMC2040734

Summary Page Browse PDF–579K

Select item 1858493.

Late-onset X-linked sideroblastic anemia. Missense mutations in the erythroid delta-aminolevulinate synthase (ALAS2) gene in two pyridoxine-responsive patients initially diagnosed with acquired refractory anemia and ringed sideroblasts.

P D Cotter, A May, E J Fitzsimons, T Houston, B E Woodcock, A I al-Sabah, L Wong, D F Bishop

J Clin Invest. 1995 Oct; 96(4): 2090–2096. doi: 10.1172/JCI118258

PMCID:: PMC185849

Summary Page Browse PDF–1.6M

Select item 25564304.

C-Terminal Deletions in the ALAS2 Gene Lead to Gain of Function and Cause X-linked Dominant Protoporphyria without Anemia or Iron Overload

Sharon D. Whatley, Sarah Ducamp, Laurent Gouya, Bernard Grandchamp, Carole Beaumont, Michael N. Badminton, George H. Elder, S. Alexander Holme, Alexander V. Anstey, Michelle Parker, Anne V. Corrigall, Peter N. Meissner, Richard J. Hift, Joanne T. Marsden, Yun Ma, Giorgina Mieli-Vergani, Jean-Charles Deybach, Hervé Puy

Am J Hum Genet. 2008 Sep 12; 83(3): 408–414. Published online 2008 Sep 5. doi: 10.1016/j.ajhg.2008.08.003

PMCID:: PMC2556430

Abstract Article PDF–617K

Select item 3774555.

Interaction between succinyl CoA synthetase and the heme-biosynthetic enzyme ALAS-E is disrupted in sideroblastic anemia

Kazumichi Furuyama, Shigeru Sassa

J Clin Invest. 2000 Mar 15; 105(6): 757–764. doi: 10.1172/JCI6816

PMCID:: PMC377455

Abstract Article PDF–642K

Select item 11716916.

Heme deficiency in erythroid lineage causes differentiation arrest and cytoplasmic iron overload.

O Nakajima, S Takahashi, H Harigae, K Furuyama, N Hayashi, S Sassa, M Yamamoto

EMBO J. 1999 Nov 15; 18(22): 6282–6289. doi: 10.1093/emboj/18.22.6282

PMCID:: PMC1171691

Summary PDF–380K

Select item 47842277.

Synthesis, Delivery and Regulation of Eukaryotic Heme and Fe-S Cluster Cofactors

Dulmini P. Barupala, Stephen P. Dzul, Pamela Jo Riggs-Gelasco, Timothy L. Stemmler

Arch Biochem Biophys. Author manuscript; available in PMC 2017 Feb 15.

Published in final edited form as: Arch Biochem Biophys. 2016 Feb 15; 592: 60–75. Published online 2016 Jan 16. doi: 10.1016/j.abb.2016.01.010

PMCID:: PMC4784227

Abstract Article PDF–1.6M

Select item 27788448.

A mitochondrial protein compendium elucidates complex I disease biology

David J. Pagliarini, Sarah E. Calvo, Betty Chang, Sunil A. Sheth, Scott B. Vafai, Shao-En Ong, Geoffrey A. Walford, Canny Sugiana, Avihu Boneh, William K. Chen, David E. Hill, Marc Vidal, James G. Evans, David R. Thorburn, Steven A. Carr, Vamsi K. Mootha

Cell. Author manuscript; available in PMC 2009 Nov 18.

Published in final edited form as: Cell. 2008 Jul 11; 134(1): 112–123. doi: 10.1016/j.cell.2008.06.016

PMCID:: PMC2778844

Abstract Article PDF–1.2M

Select item 1392419.

Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences

Mammalian Gene Collection (MGC) Program Team

Proc Natl Acad Sci U S A. 2002 Dec 24; 99(26): 16899–16903. Published online 2002 Dec 11. doi: 10.1073/pnas.242603899

PMCID:: PMC139241

Abstract Article PDF–118K

Select item 317805910.

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas

Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042

PMCID:: PMC3178059

Abstract Article PDF–1.0M

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