Publications:

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Head/neck paragangliomas: focus on tumor location, mutational status and plasma methoxytyramine.

Endocrine-Related Cancer

Richter, Susan S; Qiu, Bei B; Ghering, Mirthe M; Kunath, Carola C; Constantinescu, Georgiana G; Luths, Charlotte C; Pamporaki, Christina C; Bechmann, Nicole N; Meuter, Leah L; Kwapiszewska, Aleksandra A; Deutschbein, Timo T; Nölting, Svenja S; Peitzsch, Mirko M; Robledo, Mercedes M; Prejbisz, Aleksander A; Pacak, Karel K; Gudziol, Volker V; Timmers, Henri J L M HJLM; Eisenhofer, Graeme G

Publication Date: 2022-03-21

Variant appearance in text: SDHC: 214C>T; Arg72Cys

PubMed Link: 35171114

Variant Present in the following documents:

• Main text
• ERC-21-0359.pdf

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Electron transport chain activity is a predictor and target for venetoclax sensitivity in multiple myeloma.

Nature Communications

Bajpai, Richa R; Sharma, Aditi A; Achreja, Abhinav A; Edgar, Claudia L CL; Wei, Changyong C; Siddiqa, Arusha A AA; Gupta, Vikas A VA; Matulis, Shannon M SM; McBrayer, Samuel K SK; Mittal, Anjali A; Rupji, Manali M; Barwick, Benjamin G BG; Lonial, Sagar S; Nooka, Ajay K AK; Boise, Lawrence H LH; Nagrath, Deepak D; Shanmugam, Mala M

Publication Date: 2020-03-06

Variant appearance in text: SDHC: R72C

PubMed Link: 32144272

Variant Present in the following documents:

• Main text
• 41467_2020_Article_15051.pdf
• 41467_2020_15051_MOESM2_ESM.pdf

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The emerging role and targetability of the TCA cycle in cancer metabolism.

Protein & Cell

Anderson, Nicole M NM; Mucka, Patrick P; Kern, Joseph G JG; Feng, Hui H

Publication Date: 2018-02

Variant appearance in text: SDHC: 214C>T

PubMed Link: 28748451

Variant Present in the following documents:

• Main text
• 13238_2017_Article_451.pdf

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Evaluation of Head and Neck Paragangliomas by Computed Tomography in Patients with Pheochromocytoma-Paraganglioma Syndromes.

Polish Journal Of Radiology

Michałowska, Ilona I; Lewczuk, Anna A; Ćwikła, Jarosław J; Prejbisz, Aleksander A; Swoboda-Rydz, Urszula U; Furmanek, Mariusz I MI; Szperl, Małgorzata M; Januszewicz, Andrzej A; Pęczkowska, Mariola M

Publication Date: 2016

Variant appearance in text: SDHC: 214C>T; R72C

PubMed Link: 27867439

Variant Present in the following documents:

• Main text
• poljradiol-81-510.pdf

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Inactivation of SDH and FH cause loss of 5hmC and increased H3K9me3 in paraganglioma/pheochromocytoma and smooth muscle tumors.

Oncotarget

Hoekstra, Attje S AS; de Graaff, Marieke A MA; Briaire-de Bruijn, Inge H IH; Ras, Cor C; Seifar, Reza Maleki RM; van Minderhout, Ivonne I; Cornelisse, Cees J CJ; Hogendoorn, Pancras C W PC; Breuning, Martijn H MH; Suijker, Johnny J; Korpershoek, Esther E; Kunst, Henricus P M HP; Frizzell, Norma N; Devilee, Peter P; Bayley, Jean-Pierre JP; Bovée, Judith V M G JV

Publication Date: 2015-11-17

Variant appearance in text: SDHC: 214C>T

PubMed Link: 26472283

Variant Present in the following documents:

• oncotarget-06-38777-s002.xlsx, sheet 1

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Ubiquinone-binding site mutagenesis reveals the role of mitochondrial complex II in cell death initiation.

Cell Death & Disease

Kluckova, K K; Sticha, M M; Cerny, J J; Mracek, T T; Dong, L L; Drahota, Z Z; Gottlieb, E E; Neuzil, J J; Rohlena, J J

Publication Date: 2015-05-07

Variant appearance in text: SDHC: R72C

PubMed Link: 25950479

Variant Present in the following documents:

• Main text
• cddis2015110a.pdf

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Pathogenicity of DNA variants and double mutations in multiple endocrine neoplasia type 2 and von Hippel-Lindau syndrome.

The Journal Of Clinical Endocrinology And Metabolism

Erlic, Zoran Z; Hoffmann, Michael M MM; Sullivan, Maren M; Franke, Gerlind G; Peczkowska, Mariola M; Harsch, Igor I; Schott, Matthias M; Gabbert, Helmut E HE; Valimäki, Matti M; Preuss, Simon F SF; Hasse-Lazar, Kornelia K; Waligorski, Dariusz D; Robledo, Mercedes M; Januszewicz, Andrzej A; Eng, Charis C; Neumann, Hartmut P H HP

Publication Date: 2010-01

Variant appearance in text:

PubMed Link: 19906784

Variant Present in the following documents:

• Main text

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

Bmc Medical Genetics

Bayley, Jean-Pierre JP; van Minderhout, Ivonne I; Weiss, Marjan M MM; Jansen, Jeroen C JC; Oomen, Peter H N PH; Menko, Fred H FH; Pasini, Barbara B; Ferrando, Barbara B; Wong, Nora N; Alpert, Lesley C LC; Williams, Rosie R; Blair, Edward E; Devilee, Peter P; Taschner, Peter E M PE

Publication Date: 2006-01-11

Variant appearance in text: SDHC: 214C>T; Arg72Cys

PubMed Link: 16405730

Variant Present in the following documents:

• Main text
• 1471-2350-7-1.pdf

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