PMC Links for GEO Profiles (Select 53778117) - PMC

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

Abstract Article PDF–1.1M

Select item 98205274.

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

Abstract Article PDF–2.1M

Select item 91063035.

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

Abstract Article PDF–918K

Select item 87597656.

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

Abstract Article PDF–906K

Select item 84845517.

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

Abstract Article PDF–1003K

Select item 83529648.

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

Abstract Article PDF–4.5M

Select item 81964619.

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

Abstract Article PDF–3.5M

Select item 816503010.

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

Abstract Article PDF–2.2M

Select item 793422611.

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

Abstract Article PDF–1.0M

Select item 775883812.

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

Abstract Article

Select item 757647613.

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

Abstract Article PDF–810K

Select item 757496314.

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

Abstract Article PDF–330K

Select item 716998315.

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

Abstract Article PDF–5.4M

Select item 694413416.

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

Abstract Article PDF–190K

Select item 686362617.

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

Abstract Article PDF–170K

Select item 671160318.

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

Abstract Article PDF–3.3M

Select item 611736419.

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

Abstract Article PDF–748K

Select item 609191620.

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

Abstract Article PDF–1.3M

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