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Select item 76708811.

Recurrent epimutation of SDHC in gastrointestinal stromal tumors

J. Keith Killian, Markku Miettinen, Robert L. Walker, Yonghong Wang, Yuelin Jack Zhu, Joshua J. Waterfall, Natalia Noyes, Parvathy Retnakumar, Zhiming Yang, William I. Smith, Jr., M. Scott Killian, C. Christopher Lau, Marbin Pineda, Jennifer Walling, Holly Stevenson, Carly Smith, Zengfeng Wang, Jerzy Lasota, Su Young Kim, Sosipatros A. Boikos, Lee J. Helman, Paul S. Meltzer

Sci Transl Med. Author manuscript; available in PMC 2020 Nov 17.

Published in final edited form as: Sci Transl Med. 2014 Dec 24; 6(268): 268ra177. doi: 10.1126/scitranslmed.3009961

PMCID:: PMC7670881

Abstract Article PDF–1.1M

Select item 51556772.

A SDHC Founder Mutation Causes Paragangliomas (PGLs) in the French Canadians: New Insights on the SDHC-Related PGL

Isabelle Bourdeau, Solange Grunenwald, Nelly Burnichon, Emmanuel Khalifa, Nadine Dumas, Marie-Claire Binet, Serge Nolet, Anne-Paule Gimenez-Roqueplo

J Clin Endocrinol Metab. 2016 Dec; 101(12): 4710–4718. Published online 2016 Oct 4. doi: 10.1210/jc.2016-1665

PMCID:: PMC5155677

Abstract Article

Select item 47225323.

Aberrant DNA hypermethylation of SDHC: a novel mechanism of tumor development in Carney triad

Florian Haller, Evgeny A Moskalev, Fabio R Faucz, Sarah Barthelmeß, Stefan Wiemann, Matthias Bieg, Guillaume Assie, Jerome Bertherat, Inga-Marie Schaefer, Claudia Otto, Eleanor Rattenberry, Eamonn R Maher, Philipp Ströbel, Martin Werner, J Aidan Carney, Arndt Hartmann, Constantine A Stratakis, Abbas Agaimy

Endocr Relat Cancer. Author manuscript; available in PMC 2016 Jan 22.

Published in final edited form as: Endocr Relat Cancer. 2014 Aug; 21(4): 567–577. Published online 2014 May 23. doi: 10.1530/ERC-14-0254

PMCID:: PMC4722532

Abstract Article PDF–622K

Select item 41210194.

The Clinical Phenotype of SDHC-Associated Hereditary Paraganglioma Syndrome (PGL3)

Tobias Else, Monica L. Marvin, Jessica N. Everett, Stephen B. Gruber, H. Alexander Arts, Elena M. Stoffel, Richard J. Auchus, Victoria M. Raymond

J Clin Endocrinol Metab. 2014 Aug; 99(8): E1482–E1486. Published online 2014 Apr 23. doi: 10.1210/jc.2013-3853

PMCID:: PMC4121019

Abstract Article

Select item 30800195.

Sensitivity to Low-Dose/Low-LET Ionizing Radiation in Mammalian Cells Harboring Mutations in Succinate Dehydrogenase Subunit C is Governed by Mitochondria-Derived Reactive Oxygen Species

Nukhet Aykin-Burns, Benjamin G. Slane, Annie T. Y. Liu, Kjerstin M. Owens, Malinda S. O'Malley, Brian J. Smith, Frederick E. Domann, Douglas R. Spitz

Radiat Res. Author manuscript; available in PMC 2012 Feb 1.

Published in final edited form as: Radiat Res. 2011 Feb; 175(2): 150–158. Published online 2010 Nov 17. doi: 10.1667/rr2220.1

PMCID:: PMC3080019

Abstract Article PDF–451K

Select item 17358806.

An Alu-mediated partial SDHC deletion causes familial and sporadic paraganglioma

B Baysal, J Willett-Brozick, P Filho, E Lawrence, E Myers, R Ferrell

J Med Genet. 2004 Sep; 41(9): 703–709. doi: 10.1136/jmg.2004.019224

Correction in:: J Med Genet. 2005 Jul; 42(7): 582.

PMCID:: PMC1735880

Summary PDF–294K

Select item 18520887.

Sequence variation in human succinate dehydrogenase genes: evidence for long-term balancing selection on SDHA

Bora E Baysal, Elizabeth C Lawrence, Robert E Ferrell

BMC Biol. 2007; 5: 12. Published online 2007 Mar 21. doi: 10.1186/1741-7007-5-12

PMCID:: PMC1852088

Abstract Article PDF–384K

Select item 13435428.

Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma

Jean-Pierre Bayley, Ivonne van Minderhout, Marjan M Weiss, Jeroen C Jansen, Peter HN Oomen, Fred H Menko, Barbara Pasini, Barbara Ferrando, Nora Wong, Lesley C Alpert, Rosie Williams, Edward Blair, Peter Devilee, Peter EM Taschner

BMC Med Genet. 2006; 7: 1. Published online 2006 Jan 11. doi: 10.1186/1471-2350-7-1

PMCID:: PMC1343542

Abstract Article PDF–316K

Select item 59923729.

Tumour risks and genotype–phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD

Katrina A Andrews, David B Ascher, Douglas Eduardo Valente Pires, Daniel R Barnes, Lindsey Vialard, Ruth T Casey, Nicola Bradshaw, Julian Adlard, Simon Aylwin, Paul Brennan, Carole Brewer, Trevor Cole, Jackie A Cook, Rosemarie Davidson, Alan Donaldson, Alan Fryer, Lynn Greenhalgh, Shirley V hodgson, Richard Irving, Fiona Lalloo, Michelle McConachie, Vivienne P M McConnell, Patrick J Morrison, Victoria Murday, Soo-Mi Park, Helen L Simpson, Katie Snape, Susan Stewart, Susan E Tomkins, Yvonne Wallis, Louise Izatt, David Goudie, Robert S Lindsay, Colin G Perry, Emma R Woodward, Antonis C Antoniou, Eamonn R Maher

J Med Genet. 2018 Jun; 55(6): 1–11. Published online 2018 Jan 31. doi: 10.1136/jmedgenet-2017-105127

Correction in:: J Med Genet. 2019 Jan; 56(1): 50–52.

PMCID:: PMC5992372

Abstract Article PDF–1.7M

Select item 457426410.

Genetic variations in genes of metabolic enzymes predict postoperational prognosis of patients with colorectal cancer

Guanglong Dong, Xianli He, Yibing Chen, Haiyan Cao, Jiaojiao Wang, Xiaonan Liu, Shukui Wang, Shaogui Wan, Jinliang Xing

Mol Cancer. 2015; 14: 171. Published online 2015 Sep 17. doi: 10.1186/s12943-015-0442-x

PMCID:: PMC4574264

Abstract Article PDF–2.6M

Select item 433526611.

Germline and somatic SDHx alterations in apparently sporadic differentiated thyroid cancer

Ying Ni, Spencer Seballos, Shireen Ganapathi, Danielle Gurin, Benjamin Fletcher, Joanne Ngeow, Rebecca Nagy, Richard T Kloos, Matthew D Ringel, Thomas LaFramboise, Charis Eng

Endocr Relat Cancer. 2015 Apr; 22(2): 121–130. Prepublished online 2015 Jan 5. doi: 10.1530/ERC-14-0537

PMCID:: PMC4335266

Abstract Article PDF–388K

Select item 341900812.

Development and Validation of a comprehensive mutation and deletion detection assay for SDHB, SDHC, and SDHD

Dragana Milosevic, Patrick Lundquist, Kendall Cradic, Noemi Vidal-Folch, ThanhTruc Huynh, Karel Pacak, Stefan K.G. Grebe

Clin Biochem. Author manuscript; available in PMC 2012 Aug 14.

Published in final edited form as: Clin Biochem. 2010 May; 43(7-8): 700–704. Published online 2010 Feb 12. doi: 10.1016/j.clinbiochem.2010.01.016

PMCID:: PMC3419008

Abstract Article PDF–813K

Select item 173506113.

Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas

B Baysal, J Willett-Brozick, E Lawrence, C Drovdlic, S Savul, D McLeod, H Yee, D Brackmann, W Slattery, E Myers, R Ferrell, W Rubinstein

J Med Genet. 2002 Mar; 39(3): 178–183. doi: 10.1136/jmg.39.3.178

PMCID:: PMC1735061

Summary PDF–145K

Select item 122604714.

Gene Mutations in the Succinate Dehydrogenase Subunit SDHB Cause Susceptibility to Familial Pheochromocytoma and to Familial Paraganglioma

Dewi Astuti, Farida Latif, Ashraf Dallol, Patricia L. M. Dahia, Fiona Douglas, Emad George, Filip Sköldberg, Eystein S. Husebye, Charis Eng, Eamonn R. Maher

Am J Hum Genet. 2001 Jul; 69(1): 49–54. Published online 2001 Jun 12. doi: 10.1086/321282

Correction in:: Am J Hum Genet. 2002 Feb; 70(2): 565.

PMCID:: PMC1226047

Abstract Article PDF–359K

Select item 1035810115.

Somatic Mutation Analysis of the SDHB, SDHC, SDHD, and RET Genes in the Clinical Assessment of Sporadic and Hereditary Pheochromocytoma

Alexander Weber, Michael M. Hoffmann, Hartmut P. H. Neumann, Zoran Erlic

Horm Cancer. 2012 Aug; 3(4): 187–192. Published online 2012 May 10. doi: 10.1007/s12672-012-0113-y

PMCID:: PMC10358101

Abstract Article PDF–154K

Select item 568127416.

Maternal obesity alters fatty acid oxidation, AMPK activity, and associated DNA methylation in mesenchymal stem cells from human infants

Kristen E. Boyle, Zachary W. Patinkin, Allison L.B. Shapiro, Carly Bader, Lauren Vanderlinden, Katerina Kechris, Rachel C. Janssen, Rebecca J. Ford, Brennan K. Smith, Gregory R. Steinberg, Elizabeth J. Davidson, Ivana V. Yang, Dana Dabelea, Jacob E. Friedman

Mol Metab. 2017 Nov; 6(11): 1503–1516. Published online 2017 Sep 1. doi: 10.1016/j.molmet.2017.08.012

PMCID:: PMC5681274

Abstract Article PDF–1.6M

Select item 547210017.

Molecular Subtypes of KIT/PDGFRA Wild-Type Gastrointestinal Stromal Tumors: A Report From the National Institutes of Health Gastrointestinal Stromal Tumor Clinic

Sosipatros A. Boikos, Alberto S. Pappo, J. Keith Killian, Michael P. LaQuaglia, Chris B. Weldon, Suzanne George, Jonathan C. Trent, Margaret von Mehren, Jennifer A. Wright, Josh D. Schiffman, Margarita Raygada, Karel Pacak, Paul S. Meltzer, Markku M. Miettinen, Constantine Stratakis, Katherine A. Janeway, Lee J. Helman

JAMA Oncol. Author manuscript; available in PMC 2017 Jul 1.

Published in final edited form as: JAMA Oncol. 2016 Jul 1; 2(7): 922–928. doi: 10.1001/jamaoncol.2016.0256

PMCID:: PMC5472100

Abstract Article PDF–552K

Select item 461928918.

Relevance of Germline Mutation Screening in Both Familial and Sporadic Head and Neck Paraganglioma for Early Diagnosis and Clinical Management

Mario A. Hermsen, María A. Sevilla, José Luis Llorente, Marjan M. Weiss, Anneliese Grimbergen, Eva Allonca, Cristina Garcia-Inclán, Milagros Balbín, Carlos Suárez

Cell Oncol. 2010; 32(4): 275–283. Published online 2010 Feb 4. doi: 10.3233/CLO-2009-0498

PMCID:: PMC4619289

Abstract PDF–89K

Select item 386540819.

Analysis of all subunits, SDHA, SDHB, SDHC, SDHD, of the succinate dehydrogenase complex in KIT/PDGFRA wild-type GIST

Maria A Pantaleo, Annalisa Astolfi, Milena Urbini, Margherita Nannini, Paola Paterini, Valentina Indio, Maristella Saponara, Serena Formica, Claudio Ceccarelli, Rita Casadio, Giulio Rossi, Federica Bertolini, Donatella Santini, Maria G Pirini, Michelangelo Fiorentino, Umberto Basso, Guido Biasco

Eur J Hum Genet. 2014 Jan; 22(1): 32–39. Published online 2013 Apr 24. doi: 10.1038/ejhg.2013.80

PMCID:: PMC3865408

Abstract Article PDF–2.9M

Select item 1113914020.

Succinate dehydrogenase deficiency in human

J.-J. Brière, J. Favier, V. El. Ghouzzi, F. Djouadi, P. Bénit, A. -P. Gimenez, P. Rustin

Cell Mol Life Sci. 2005 Oct; 62(19-20): 2317–2324. Published online 2005 Sep 7. doi: 10.1007/s00018-005-5237-6

PMCID:: PMC11139140

Abstract Article PDF–1.0M

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