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Items: 1 to 20 of 65

1.
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
AbstractArticlePDF–154K
2.
Clinical guideline on the management of pheochromocytoma and paraganglioma in patients harboring germline pathogenic variants in the succinate dehydrogenase subunit D gene
Maleeha Ahmad, Prof Laurence Amar, Prof Isabelle Bourdeau, Ruth T. Casey, Prof Frédéric Castinetti, Prof Roderick Clifton-Bligh, Eleonora P.M. Corssmit, Ronald R. de Krijger, Jaydira Del Rivero, Prof Graeme Eisenhofer, Prof Anthony L. Estrera, Hans K. Ghayee, Prof Anne-Paule Gimenez-Roqueplo, Prof Ashley Grossman, Prof Alessio Imperiale, Prof Jeroen C. Jansen, Abhishek Jha, Michiel Kerstens, Prof Henricus P.M. Kunst, Prof Jacques W.M. Lenders, Prof Michael Lim, Prof James K. Liu, Prof Charlotte Lussey-Lepoutre, Prof Eamonn R. Maher, Prof Daniele Marchioni, Prof Leilani B. Mercado-Asis, Prof Ozgur Mete, Leah Meuter, Mitsuhide Naruse, Prof Naris Nilubol, Prof Svenja Nölting, Prof Karel Pacak, Prof Nancy D. Perrier, Prof Neeta Pandit-Taskar, Erqi Liu Pollom, Prof Frédéric Sebag, Zachary G. Schwam, Prof David Taïeb, Akiyo Tanabe, Prof Henri J. L. M. Timmers, Lucas Vitzthum, Prof George B. Wanna, Prof Jiri Widimsky
Lancet Diabetes Endocrinol. Author manuscript; available in PMC 2024 May 1.
Published in final edited form as: Lancet Diabetes Endocrinol. 2023 May; 11(5): 345–361. Published online 2023 Mar 31. doi: 10.1016/S2213-8587(23)00038-4
PMCID:
PMC10182476
AbstractArticlePDF–1.1M
3.
The SDHD:p.H102R Variant Is Frequent in Russian Patients with Head and Neck Paragangliomas and Associated with Loss of 11p15.5 Region and Hypermethylation of H19-DMR
Anastasiya Snezhkina, Maria Fedorova, Anastasiya Kobelyatskaya, Daria Markova, Margarita Lantsova, Anna Ikonnikova, Marina Emelyanova, Dmitry Kalinin, Elena Pudova, Nataliya Melnikova, Alexey Dmitriev, George Krasnov, Vladislav Pavlov, Anna Kudryavtseva
Int J Mol Sci. 2023 Jan; 24(1): 628. Published online 2022 Dec 30. doi: 10.3390/ijms24010628
PMCID:
PMC9820527
AbstractArticlePDF–2.1M
4.
Genome-wide CRISPR screens using isogenic cells reveal vulnerabilities conferred by loss of tumor suppressors
Xu Feng, Mengfan Tang, Merve Dede, Dan Su, Guangsheng Pei, Dadi Jiang, Chao Wang, Zhen Chen, Mi Li, Litong Nie, Yun Xiong, Siting Li, Jeong-Min Park, Huimin Zhang, Min Huang, Klaudia Szymonowicz, Zhongming Zhao, Traver Hart, Junjie Chen
Sci Adv. 2022 May; 8(19): eabm6638. Published online 2022 May 13. doi: 10.1126/sciadv.abm6638
PMCID:
PMC9106303
AbstractArticlePDF–918K
5.
Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHD
Alice Garrett, Chey Loveday, Laura King, Samantha Butler, Rachel Robinson, Carrie Horton, Amal Yussuf, Subin Choi, Beth Torr, Miranda Durkie, George J. Burghel, James Drummond, Ian Berry, Andrew Wallace, Alison Callaway, Diana Eccles, Marc Tischkowitz, Katrina Tatton-Brown, Katie Snape, Terri McVeigh, Louise Izatt, Emma R. Woodward, Nelly Burnichon, Anne-Paule Gimenez-Roqueplo, Francesco Mazzarotto, Nicola Whiffin, James Ware, Helen Hanson, Tina Pesaran, Holly LaDuca, Alexandre Buffet, Eamonn R. Maher, Clare Turnbull, Cancer Variant Interpretation Group UK (CanVIG-UK)
Genet Med. 2022 Jan; 24(1): 41–50. doi: 10.1016/j.gim.2021.08.004
PMCID:
PMC8759765
AbstractArticlePDF–906K
6.
Consolidating biallelic SDHD variants as a cause of mitochondrial complex II deficiency
Siying Lin, James Fasham, Fida’ Al-Hijawi, Nouar Qutob, Adam Gunning, Joseph S. Leslie, Lucy McGavin, Nishanka Ubeyratna, Wisam Baker, Ramez Zeid, Peter D. Turnpenny, Andrew H. Crosby, Emma L. Baple, Reham Khalaf-Nazzal
Eur J Hum Genet. 2021 Oct; 29(10): 1570–1576. Published online 2021 May 20. doi: 10.1038/s41431-021-00887-w
PMCID:
PMC8484551
AbstractArticlePDF–1003K
7.
Integrative oncogene-dependency mapping identifies RIT1 vulnerabilities and synergies in lung cancer
Athea Vichas, Amanda K. Riley, Naomi T. Nkinsi, Shriya Kamlapurkar, Phoebe C. R. Parrish, April Lo, Fujiko Duke, Jennifer Chen, Iris Fung, Jacqueline Watson, Matthew Rees, Austin M. Gabel, James D. Thomas, Robert K. Bradley, John K. Lee, Emily M. Hatch, Marina K. Baine, Natasha Rekhtman, Marc Ladanyi, Federica Piccioni, Alice H. Berger
Nat Commun. 2021; 12: 4789. Published online 2021 Aug 9. doi: 10.1038/s41467-021-24841-y
PMCID:
PMC8352964
AbstractArticlePDF–4.5M
8.
Complex II subunit SDHD is critical for cell growth and metabolism, which can be partially restored with a synthetic ubiquinone analog
Aloka B. Bandara, Joshua C. Drake, David A. Brown
BMC Mol Cell Biol. 2021; 22: 35. Published online 2021 Jun 12. doi: 10.1186/s12860-021-00370-w
PMCID:
PMC8196461
AbstractArticlePDF–3.5M
9.
Dual Proteome-scale Networks Reveal Cell-specific Remodeling of the Human Interactome
Edward L. Huttlin, Raphael J. Bruckner, Jose Navarrete-Perea, Joe R. Cannon, Kurt Baltier, Fana Gebreab, Melanie P. Gygi, Alexandra Thornock, Gabriela Zarraga, Stanley Tam, John Szpyt, Brandon M. Gassaway, Alexandra Panov, Hannah Parzen, Sipei Fu, Arvene Golbazi, Eila Maenpaa, Keegan Stricker, Sanjukta Guha Thakurta, Tian Zhang, Ramin Rad, Joshua Pan, David P. Nusinow, Joao A. Paulo, Devin K. Schweppe, Laura Pontano Vaites, J. Wade Harper, Steven P. Gygi
Cell. Author manuscript; available in PMC 2022 May 27.
Published in final edited form as: Cell. 2021 May 27; 184(11): 3022–3040.e28. Published online 2021 May 6. doi: 10.1016/j.cell.2021.04.011
PMCID:
PMC8165030
AbstractArticlePDF–2.2M
10.
Bcl2l10 induces metabolic alterations in ovarian cancer cells by regulating the TCA cycle enzymes SDHD and IDH1
Su-Yeon Lee, Jinie Kwon, Kyung-Ah Lee
Oncol Rep. 2021 Apr; 45(4): 47. Published online 2021 Mar 1. doi: 10.3892/or.2021.7998
PMCID:
PMC7934226
AbstractArticlePDF–1.0M
11.
The genetic basis of isolated mitochondrial complex II deficiency
Millie Fullerton, Robert McFarland, Robert W. Taylor, Charlotte L. Alston
Mol Genet Metab. 2020 Sep-Oct; 131(1-2): 53–65. doi: 10.1016/j.ymgme.2020.09.009
PMCID:
PMC7758838
AbstractArticle
12.
Immunohistochemistry and Mutation Analysis of SDHx Genes in Carotid Paragangliomas
Anastasiya V. Snezhkina, Dmitry V. Kalinin, Vladislav S. Pavlov, Elena N. Lukyanova, Alexander L. Golovyuk, Maria S. Fedorova, Elena A. Pudova, Maria V. Savvateeva, Oleg A. Stepanov, Andrey A. Poloznikov, Tatiana B. Demidova, Nataliya V. Melnikova, Alexey A. Dmitriev, George S. Krasnov, Anna V. Kudryavtseva
Int J Mol Sci. 2020 Sep; 21(18): 6950. Published online 2020 Sep 22. doi: 10.3390/ijms21186950
PMCID:
PMC7576476
AbstractArticlePDF–810K
13.
Genetic stratification of inherited and sporadic phaeochromocytoma and paraganglioma: implications for precision medicine
Ruth Casey, Hartmut P H Neumann, Eamonn R Maher
Hum Mol Genet. 2020 Oct 1; 29(R2): R128–R137. Published online 2020 Oct 20. doi: 10.1093/hmg/ddaa201
PMCID:
PMC7574963
AbstractArticlePDF–330K
14.
A reference map of the human binary protein interactome
Katja Luck, Dae-Kyum Kim, Luke Lambourne, Kerstin Spirohn, Bridget E. Begg, Wenting Bian, Ruth Brignall, Tiziana Cafarelli, Francisco J. Campos-Laborie, Benoit Charloteaux, Dongsic Choi, Atina G. Coté, Meaghan Daley, Steven Deimling, Alice Desbuleux, Amélie Dricot, Marinella Gebbia, Madeleine F. Hardy, Nishka Kishore, Jennifer J. Knapp, István A. Kovács, Irma Lemmens, Miles W. Mee, Joseph C. Mellor, Carl Pollis, Carles Pons, Aaron D. Richardson, Sadie Schlabach, Bridget Teeking, Anupama Yadav, Mariana Babor, Dawit Balcha, Omer Basha, Christian Bowman-Colin, Suet-Feung Chin, Soon Gang Choi, Claudia Colabella, Georges Coppin, Cassandra D’Amata, David De Ridder, Steffi De Rouck, Miquel Duran-Frigola, Hanane Ennajdaoui, Florian Goebels, Liana Goehring, Anjali Gopal, Ghazal Haddad, Elodie Hatchi, Mohamed Helmy, Yves Jacob, Yoseph Kassa, Serena Landini, Roujia Li, Natascha van Lieshout, Andrew MacWilliams, Dylan Markey, Joseph N. Paulson, Sudharshan Rangarajan, John Rasla, Ashyad Rayhan, Thomas Rolland, Adriana San-Miguel, Yun Shen, Dayag Sheykhkarimli, Gloria M. Sheynkman, Eyal Simonovsky, Murat Taşan, Alexander Tejeda, Vincent Tropepe, Jean-Claude Twizere, Yang Wang, Robert J. Weatheritt, Jochen Weile, Yu Xia, Xinping Yang, Esti Yeger-Lotem, Quan Zhong, Patrick Aloy, Gary D. Bader, Javier De Las Rivas, Suzanne Gaudet, Tong Hao, Janusz Rak, Jan Tavernier, David E. Hill, Marc Vidal, Frederick P. Roth, Michael A. Calderwood
Nature. Author manuscript; available in PMC 2020 Oct 8.
Published in final edited form as: Nature. 2020 Apr; 580(7803): 402–408. Published online 2020 Apr 8. doi: 10.1038/s41586-020-2188-x
PMCID:
PMC7169983
AbstractArticlePDF–5.4M
15.
Systemic Mitochondrial Oxidative Phosphorylation Protein Levels Correlate with Neuroimaging Measures in Chronically HIV-Infected Individuals
Kalpana J. Kallianpur, Maegen Walker, Mariana Gerschenson, Cecilia M. Shikuma, Louie Mar A. Gangcuangco, Lindsay Kohorn, Daniel E. Libutti, Talia M. Nir, Neda Jahanshad, Paul M. Thompson, Robert Paul
AIDS Res Hum Retroviruses. January 2020; 36(1): 83–91. Published online 2019 Dec 31. doi: 10.1089/aid.2019.0240
Correction in:
AIDS Res Hum Retroviruses. December 2020; 36(12): 1083.
PMCID:
PMC6944134
AbstractArticlePDF–190K
16.
Malignant phenotype and two SDHD mutations in a family with paraganglioma syndrome type 1
FRANCIELE B. LEIDENZ, LUCIANA BASTOS-RODRIGUES, MARCELO OLIVEIRA, MARCELO MAMEDE, MARTA SARQUIS, EITAN FRIEDMAN, LUIZ DE MARCO
Genet Res (Camb) 2015; 97: e3. Published online 2015 Mar 30. doi: 10.1017/S0016672315000063
PMCID:
PMC6863626
AbstractArticlePDF–170K
17.
SDHD promoter mutations ablate GABP transcription factor binding in melanoma
Tongwu Zhang, Mai Xu, Matthew M. Makowski, Christine Lee, Michael Kovacs, Jun Fang, Esther Willems, Jeffrey M. Trent, Nicholas K. Hayward, Michiel Vermeulen, Kevin M. Brown
Cancer Res. Author manuscript; available in PMC 2019 Aug 27.
Published in final edited form as: Cancer Res. 2017 Apr 1; 77(7): 1649–1661. Published online 2017 Jan 20. doi: 10.1158/0008-5472.CAN-16-0919
PMCID:
PMC6711603
AbstractArticlePDF–3.3M
18.
Clinical progression and metachronous paragangliomas in a large cohort of SDHD germline variant carriers
Berdine L Heesterman, Lisa M H de Pont, Andel GL van der Mey, Jean-Pierre Bayley, Eleonora PM Corssmit, Frederik J Hes, Berit M Verbist, Peter Paul G van Benthem, Jeroen C Jansen
Eur J Hum Genet. 2018 Sep; 26(9): 1339–1347. Published online 2018 May 18. doi: 10.1038/s41431-018-0116-4
PMCID:
PMC6117364
AbstractArticlePDF–748K
19.
Mathematical modeling of disease dynamics in SDHB- and SDHD-related paraganglioma: Further step in understanding hereditary tumor differences and future therapeutic strategies
Dominique Barbolosi, Joakim Crona, Raphaël Serre, Karel Pacak, David Taieb
PLoS One. 2018; 13(8): e0201303. Published online 2018 Aug 14. doi: 10.1371/journal.pone.0201303
PMCID:
PMC6091916
AbstractArticlePDF–1.3M
20.
Assembly of mammalian oxidative phosphorylation complexes I–V and supercomplexes
Alba Signes, Erika Fernandez-Vizarra
Essays Biochem. 2018 Jul 20; 62(3): 255–270. Published online 2018 Jul 20. doi: 10.1042/EBC20170098
PMCID:
PMC6056720
AbstractArticlePDF–1.5M

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