PMC Links for GEO Profiles (Select 35827005) - PMC

Select item 85750761.

The Noonan Syndrome gene Lztr1 controls cardiovascular function by regulating vesicular trafficking

R. Sewduth, S. Pandolfi, M. Steklov, A. Sheryazdanova, P. Zhao, N. Criem, M.F. Baietti, B. Lechat, R. Quarck, F. Impens, A.A. Sablina

Circ Res. Author manuscript; available in PMC 2021 Nov 8.

Published in final edited form as: Circ Res. 2020 May 8; 126(10): 1379–1393. Published online 2020 Mar 16. doi: 10.1161/CIRCRESAHA.119.315730

PMCID:: PMC8575076

Abstract Article PDF–1.5M

Select item 80586202.

Mutations in LZTR1 drive human disease by dysregulating RAS ubiquitination

M. Steklov, S. Pandolfi, M. F. Baietti, A. Batiuk, P. Carai, P. Najm, M. Zhang, H. Jang, F. Renzi, Y. Cai, L. Abbasi Asbagh, T. Pastor, M. De Troyer, M. Simicek, E. Radaelli, H. Brems, E. Legius, J. Tavernier, K. Gevaert, F. Impens, L. Messiaen, R. Nussinov, S. Heymans, S. Eyckerman, A. A. Sabina

Science. Author manuscript; available in PMC 2021 Apr 21.

Published in final edited form as: Science. 2018 Dec 7; 362(6419): 1177–1182. Published online 2018 Nov 15. doi: 10.1126/science.aap7607

PMCID:: PMC8058620

Abstract Article PDF–1.1M

Select item 69866823.

RIT1 oncoproteins escape LZTR1-mediated proteolysis

Pau Castel, Alice Cheng, Antonio Cuevas-Navarro, David B. Everman, Alex G. Papageorge, Dhirendra K. Simanshu, Alexandra Tankka, Jacqueline Galeas, Anatoly Urisman, Frank McCormick

Science. Author manuscript; available in PMC 2020 Jan 28.

Published in final edited form as: Science. 2019 Mar 15; 363(6432): 1226–1230. doi: 10.1126/science.aav1444

PMCID:: PMC6986682

Abstract Article PDF–1.1M

Select item 69700874.

The novel testicular enrichment protein Cfap58 is required for Notch-associated ciliogenesis

Zheng-Zheng Li, Wen-Long Zhao, Gui-Shuan Wang, Ni-Hao Gu, Fei Sun

Biosci Rep. 2020 Jan 31; 40(1): BSR20192666. Published online 2020 Jan 17. doi: 10.1042/BSR20192666

PMCID:: PMC6970087

Abstract Article PDF–2.4M

Select item 67941585.

LZTR1 is a regulator of RAS ubiquitination and signaling

Johannes W. Bigenzahn, Giovanna M. Collu, Felix Kartnig, Melanie Pieraks, Gregory I. Vladimer, Leonhard X. Heinz, Vitaly Sedlyarov, Fiorella Schischlik, Astrid Fauster, Manuele Rebsamen, Katja Parapatics, Vincent A. Blomen, André C. Müller, Georg E. Winter, Robert Kralovics, Thijn R. Brummelkamp, Marek Mlodzik, Giulio Superti-Furga

Science. Author manuscript; available in PMC 2019 Oct 15.

Published in final edited form as: Science. 2018 Dec 7; 362(6419): 1171–1177. Published online 2018 Nov 15. doi: 10.1126/science.aap8210

PMCID:: PMC6794158

Abstract Article PDF–1.9M

Select item 60073976.

Targeted next-generation sequencing for differential diagnosis of neurofibromatosis type 2, schwannomatosis, and meningiomatosis

Camille Louvrier, Eric Pasmant, Audrey Briand-Suleau, Joëlle Cohen, Patrick Nitschké, Juliette Nectoux, Lucie Orhant, Cécile Zordan, Cyril Goizet, Stéphane Goutagny, Dominique Lallemand, Michel Vidaud, Dominique Vidaud, Michel Kalamarides, Béatrice Parfait

Neuro Oncol. 2018 Jun; 20(7): 917–929. Published online 2018 Feb 2. doi: 10.1093/neuonc/noy009

PMCID:: PMC6007397

Abstract Article PDF–1.1M

Select item 56807787.

Comprehensive and Integrative Genomic Characterization of Hepatocellular Carcinoma

The Cancer Genome Atlas Research Network, David A. Wheeler, Lewis R. Roberts

Cell. Author manuscript; available in PMC 2018 Jun 15.

Published in final edited form as: Cell. 2017 Jun 15; 169(7): 1327–1341.e23. doi: 10.1016/j.cell.2017.05.046

PMCID:: PMC5680778

Abstract Article PDF–1.8M

Select item 43523028.

Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas

Arkadiusz Piotrowski, Jing Xie, Ying F Liu, Andrzej B Poplawski, Alicia R Gomes, Piotr Madanecki, Chuanhua Fu, Michael R Crowley, David K Crossman, Linlea Armstrong, Dusica Babovic-Vuksanovic, Amanda Bergner, Jaishri O Blakeley, Andrea L Blumenthal, Molly S Daniels, Howard Feit, Kathy Gardner, Stephanie Hurst, Christine Kobelka, Chung Lee, Rebecca Nagy, Katherine A Rauen, John M Slopis, Pim Suwannarat, Judith A Westman, Andrea Zanko, Bruce R Korf, Ludwine M Messiaen

Nat Genet. Author manuscript; available in PMC 2015 Mar 7.

Published in final edited form as: Nat Genet. 2014 Feb; 46(2): 182–187. Published online 2013 Dec 22. doi: 10.1038/ng.2855

PMCID:: PMC4352302

Abstract Article PDF–1.1M

Select item 43360879.

Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis

Miriam J. Smith, Bertand Isidor, Christian Beetz, Simon G. Williams, Sanjeev S. Bhaskar, Wilfrid Richer, James O'Sullivan, Beverly Anderson, Sarah B. Daly, Jill E. Urquhart, Alan Fryer, Cecilie F. Rustad, Samantha J. Mills, Amir Samii, Daniel du Plessis, Dorothy Halliday, Sebastien Barbarot, Franck Bourdeaut, William G. Newman, D. Gareth Evans

Neurology. 2015 Jan 13; 84(2): 141–147. doi: 10.1212/WNL.0000000000001129

PMCID:: PMC4336087

Abstract Article PDF–412K

Select item 379995310.

The integrated landscape of driver genomic alterations in glioblastoma

Veronique Frattini, Vladimir Trifonov, Joseph Minhow Chan, Angelica Castano, Marie Lia, Francesco Abate, Stephen T. Keir, Alan X. Ji, Pietro Zoppoli, Francesco Niola, Carla Danussi, Igor Dolgalev, Paola Porrati, Serena Pellegatta, Adriana Heguy, Gaurav Gupta, David J. Pisapia, Peter Canoll, Jeffrey N. Bruce, Roger E. McLendon, Hai Yan, Ken Aldape, Gaetano Finocchiaro, Tom Mikkelsen, Gilbert G. Privé, Darell D. Bigner, Anna Lasorella, Raul Rabadan, Antonio Iavarone

Nat Genet. Author manuscript; available in PMC 2014 Apr 1.

Published in final edited form as: Nat Genet. 2013 Oct; 45(10): 1141–1149. Published online 2013 Aug 5. doi: 10.1038/ng.2734

PMCID:: PMC3799953

Abstract Article PDF–1.1M

Select item 317805911.

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas

Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042

PMCID:: PMC3178059

Abstract Article PDF–1.0M

Select item 13924112.

Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences

Mammalian Gene Collection (MGC) Program Team

Proc Natl Acad Sci U S A. 2002 Dec 24; 99(26): 16899–16903. Published online 2002 Dec 11. doi: 10.1073/pnas.242603899

PMCID:: PMC139241

Abstract Article PDF–118K

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