PMC Links for Nucleotide (Select 1519243438) - PMC

Select item 50315361.

Expanding the phenotypic spectrum of Succinyl-CoA Ligase Deficiency through functional validation of a new SUCLG1 variant

Taraka R. Donti, Ruchi Masand, Daryl A. Scott, William J. Craigen, Brett H Graham

Mol Genet Metab. Author manuscript; available in PMC 2017 Sep 1.

Published in final edited form as: Mol Genet Metab. 2016 Sep; 119(1-2): 68–74. Published online 2016 Jul 25. doi: 10.1016/j.ymgme.2016.07.007

PMCID:: PMC5031536

Abstract Article PDF–725K

Select item 37335952.

Genetics of coronary artery calcification among African Americans, a meta-analysis

Mary K Wojczynski, Mingyao Li, Lawrence F Bielak, Kathleen F Kerr, Alex P Reiner, Nathan D Wong, Lisa R Yanek, Liming Qu, Charles C White, Leslie A Lange, Jane F Ferguson, Jing He, Taylor Young, Thomas H Mosley, Jennifer A Smith, Brian G Kral, Xiuqing Guo, Quenna Wong, Santhi K Ganesh, Susan R Heckbert, Michael E Griswold, Daniel H O’Leary, Matthew Budoff, J Jeffrey Carr, Herman A Taylor,, Jr., David A Bluemke, Serkalem Demissie, Shih-Jen Hwang, Dina N Paltoo, Joseph F Polak, Bruce M Psaty, Diane M Becker, Michael A Province, Wendy S Post, Christopher J O’Donnell, James G Wilson, Tamara B Harris, Maryam Kavousi, L Adrienne Cupples, Jerome I Rotter, Myriam Fornage, Lewis C Becker, Patricia A Peyser, Ingrid B Borecki, Muredach P Reilly

BMC Med Genet. 2013; 14: 75. Published online 2013 Jul 19. doi: 10.1186/1471-2350-14-75

PMCID:: PMC3733595

Abstract Article PDF–884K

Select item 19507923.

Deficiency of the α Subunit of Succinate–Coenzyme A Ligase Causes Fatal Infantile Lactic Acidosis with Mitochondrial DNA Depletion

Elsebet Ostergaard, Ernst Christensen, Elisabeth Kristensen, Bodil Mogensen, Morten Duno, Eric A. Shoubridge, Flemming Wibrand

Am J Hum Genet. 2007 Aug; 81(2): 383–387. Published online 2007 Jun 4. doi: 10.1086/519222

PMCID:: PMC1950792

Abstract Article PDF–245K

Select item 64517334.

Recurrent Germline DLST Mutations in Individuals with Multiple Pheochromocytomas and Paragangliomas

Laura Remacha, David Pirman, Christopher E. Mahoney, Javier Coloma, Bruna Calsina, Maria Currás-Freixes, Rocío Letón, Rafael Torres-Pérez, Susan Richter, Guillermo Pita, Belén Herráez, Giovanni Cianchetta, Emiliano Honrado, Lorena Maestre, Miguel Urioste, Javier Aller, Óscar García-Uriarte, María Ángeles Gálvez, Raúl M. Luque, Marcos Lahera, Cristina Moreno-Rengel, Graeme Eisenhofer, Cristina Montero-Conde, Cristina Rodríguez-Antona, Óscar Llorca, Gromoslaw A. Smolen, Mercedes Robledo, Alberto Cascón

Am J Hum Genet. 2019 Apr 4; 104(4): 651–664. Published online 2019 Mar 28. doi: 10.1016/j.ajhg.2019.02.017

Correction in:: Am J Hum Genet. 2019 May 2; 104(5): 1008–1010.

PMCID:: PMC6451733

Abstract Article PDF–2.3M

Select item 59325595.

Defective mitochondrial protease LonP1 can cause classical mitochondrial disease

Bradley Peter, Christie L Waddington, Monika Oláhová, Ewen W Sommerville, Sila Hopton, Angela Pyle, Michael Champion, Monica Ohlson, Triinu Siibak, Zofia M A Chrzanowska-Lightowlers, Robert W Taylor, Maria Falkenberg, Robert N Lightowlers

Hum Mol Genet. 2018 May 15; 27(10): 1743–1753. Published online 2018 Mar 6. doi: 10.1093/hmg/ddy080

PMCID:: PMC5932559

Abstract Article PDF–793K

Select item 41961616.

CPEB1 modulates differentiation of glioma stem cells via downregulation of HES1 and SIRT1 expression

Jinlong Yin, Gunwoo Park, Jeong Eun Lee, Ju Young Park, Tae-Hoon Kim, Youn-Jae Kim, Seung-Hoon Lee, Heon Yoo, Jong Heon Kim, Jong Bae Park

Oncotarget. 2014 Aug; 5(16): 6756–6769. Published online 2014 Jul 23. doi: 10.18632/oncotarget.2250

PMCID:: PMC4196161

Abstract Article PDF–1.5M

Select item 32268397.

Global Comparative Gene Expression Analysis of Melanoma Patient Samples, Derived Cell Lines and Corresponding Tumor Xenografts

YAGUANG XI, ADAM RIKER, LALITA SHEVDE-SAMANT, RAJEEV SAMANT, CHRISTOPHER MORRIS, ELAINE GAVIN, OYSTEIN FODSTAD, JINGFANG JU

Cancer Genomics Proteomics. Author manuscript; available in PMC 2011 Nov 30.

Published in final edited form as: Cancer Genomics Proteomics. 2008 Jan-Feb; 5(1): 1–35.

PMCID:: PMC3226839

Abstract Article PDF–2.0M

Select item 29282208.

Succinyl-CoA ligase deficiency: a mitochondrial hepatoencephalomyopathy

Johan L.K. Van Hove, Margarita S. Saenz, Janet A. Thomas, Renata Gallagher, Mark A. Lovell, Laura Z. Fenton, Sarah Shanske, Sommer M. Myers, Ronald J. A. Wanders, Jos Ruiter, Marjolein Turkenburg, Hans R. Waterham

Pediatr Res. Author manuscript; available in PMC 2011 Aug 1.

Published in final edited form as: Pediatr Res. 2010 Aug; 68(2): 159–164. doi: 10.1203/PDR.0b013e3181e5c3a4

PMCID:: PMC2928220

Abstract Article PDF–1.0M

Select item 27910009.

Syndecan-2 Functions as a Docking Receptor for Pro-matrix Metalloproteinase-7 in Human Colon Cancer Cells

Heui-Young Ryu, Jiseon Lee, Sanghwa Yang, Haein Park, Sojoong Choi, Kyeong-Cheon Jung, Seung-Taek Lee, Je-Kyung Seong, Inn-Oc Han, Eok-Soo Oh

J Biol Chem. 2009 Dec 18; 284(51): 35692–35701. Published online 2009 Oct 26. doi: 10.1074/jbc.M109.054254

PMCID:: PMC2791000

Abstract Article PDF–1.7M

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