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Items: 1 to 20 of 42

1.
Exome Survey and Candidate Gene Re-Sequencing Identifies Novel Exstrophy Candidate Genes and Implicates LZTR1 in Disease Formation
Ricarda Köllges, Jil Stegmann, Sophia Schneider, Lea Waffenschmidt, Julia Fazaal, Katinka Breuer, Alina C. Hilger, Gabriel C. Dworschak, Enrico Mingardo, Wolfgang Rösch, Aybike Hofmann, Claudia Neissner, Anne-Karolin Ebert, Raimund Stein, Nina Younsi, Karin Hirsch-Koch, Eberhard Schmiedeke, Nadine Zwink, Ekkehart Jenetzky, Holger Thiele, Kerstin U. Ludwig, Heiko Reutter
Biomolecules. 2023 Jul; 13(7): 1117. Published online 2023 Jul 13. doi: 10.3390/biom13071117
PMCID:
PMC10377188
AbstractArticlePDF–1.2M
2.
LZTR1 molecular genetic overlap with clinical implications for Noonan syndrome and schwannomatosis
Kirsten M. Farncombe, Emily Thain, Carolina Barnett-Tapia, Hamid Sadeghian, Raymond H. Kim
BMC Med Genomics. 2022; 15: 160. Published online 2022 Jul 15. doi: 10.1186/s12920-022-01304-x
PMCID:
PMC9288044
AbstractArticlePDF–1.5M
3.
A Chinese family with Noonan syndrome caused by a heterozygous variant in LZTR1: a case report and literature review
Xiu Zhao, Zhuoguang Li, Li Wang, Zhangzhang Lan, Feifei Lin, Wenyong Zhang, Zhe Su
BMC Endocr Disord. 2021; 21: 2. Published online 2021 Jan 6. doi: 10.1186/s12902-020-00666-6
PMCID:
PMC7788825
AbstractArticlePDF–980K
4.
Further support linking the 22q11.2 microduplication to an increased risk of bladder exstrophy and highlighting LZTR1 as a candidate gene
Johanna Lundin, Ellen Markljung, Izabella Baranowska Körberg, Wolfgang Hofmeister, Jia Cao, Daniel Nilsson, Gundela Holmdahl, Gillian Barker, Magnus Anderberg, Vladana Vukojević, Anna Lindstrand, Agneta Nordenskjöld
Mol Genet Genomic Med. 2019 Jun; 7(6): e666. Published online 2019 May 1. doi: 10.1002/mgg3.666
PMCID:
PMC6565582
AbstractArticlePDF–950K
5.
Autosomal Recessive Noonan Syndrome Associated with Biallelic LZTR1Variants
Jennifer J. Johnston, Jasper J. van der Smagt, Jill A. Rosenfeld, Alistair T. Pagnamenta, Abdulrahman Alswaid, Eva H. Baker, Edward Blair, Guntram Borck, Julia Brinkmann, William Craigen, Vu Chi Dung, Lisa Emrick, David B. Everman, Koen L. van Gassen, Suleyman Gulsuner, Margaret H. Harr, Mahim Jain, Alma Kuechler, Kathleen A. Leppig, Donna M. McDonald-McGinn, Can Thi Bich Ngoc, Amir Peleg, Elizabeth R. Roeder, R. Curtis Rogers, Lena Sagi-Dain, Julie C. Sapp, Alejandro A. Schäffer, Denny Schanze, Helen Stewart, Jenny C. Taylor, Nienke E. Verbeek, Magdalena A. Walkiewicz, Elaine H. Zackai, Christiane Zweier, Martin Zenker, Brendan Lee, Leslie G. Biesecker
Genet Med. Author manuscript; available in PMC 2018 Nov 22.
Published in final edited form as: Genet Med. 2018 Oct; 20(10): 1175–1185. Published online 2018 Feb 22. doi: 10.1038/gim.2017.249
PMCID:
PMC6105555
AbstractArticlePDF–1.1M
6.
Expanding the mutational spectrum of LZTR1 in schwannomatosis
Irene Paganini, Vivian Y Chang, Gabriele L Capone, Jeremie Vitte, Matteo Benelli, Lorenzo Barbetti, Roberta Sestini, Eva Trevisson, Theo JM Hulsebos, Marco Giovannini, Stanley F Nelson, Laura Papi
Eur J Hum Genet. 2015 Jul; 23(7): 963–968. Published online 2014 Oct 22. doi: 10.1038/ejhg.2014.220
PMCID:
PMC4463507
AbstractArticlePDF–666K
7.
The GSK3 kinase and LZTR1 protein regulate the stability of Ras family proteins and the proliferation of pancreatic cancer cells
Chitra Palanivel, Neha Chaudhary, Parthasarathy Seshacharyulu, Jesse L. Cox, Ying Yan, Surinder K. Batra, Michel M. Ouellette
Neoplasia. 2022 Mar; 25: 28–40. Published online 2022 Jan 31. doi: 10.1016/j.neo.2022.01.002
PMCID:
PMC8814762
AbstractArticlePDF–2.6M
8.
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
AbstractArticlePDF–1.1M
9.
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
AbstractArticlePDF–412K
10.
Oncogenic mutations of KRAS modulate its turnover by the CUL3/LZTR1 E3 ligase complex
Andreas Damianou, Zhu Liang, Frederik Lassen, Iolanda Vendrell, George Vere, Svenja Hester, Philip D Charles, Adan Pinto-Fernandez, Alberto Santos, Roman Fischer, Benedikt M Kessler
Life Sci Alliance. 2024 May; 7(5): e202302245. Published online 2024 Mar 7. doi: 10.26508/lsa.202302245
PMCID:
PMC10921066
AbstractArticlePDF–3.2M
11.
Simultaneous Detection of NF1, SPRED1, LZTR1, and NF2 Gene Mutations by Targeted NGS in an Italian Cohort of Suspected NF1 Patients
Donatella Bianchessi, Maria Cristina Ibba, Veronica Saletti, Stefania Blasa, Tiziana Langella, Rosina Paterra, Giulia Anna Cagnoli, Giulia Melloni, Giulietta Scuvera, Federica Natacci, Claudia Cesaretti, Gaetano Finocchiaro, Marica Eoli
Genes (Basel) 2020 Jun; 11(6): 671. Published online 2020 Jun 19. doi: 10.3390/genes11060671
PMCID:
PMC7349720
AbstractArticlePDF–734K
12.
LZTR1 facilitates polyubiquitination and degradation of RAS-GTPases
Taiki Abe, Ikumi Umeki, Shin-ichiro Kanno, Shin-ichi Inoue, Tetsuya Niihori, Yoko Aoki
Cell Death Differ. 2020 Mar; 27(3): 1023–1035. Published online 2019 Jul 23. doi: 10.1038/s41418-019-0395-5
PMCID:
PMC7206011
AbstractArticlePDF–3.4M
13.
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
AbstractArticlePDF–1.1M
14.
Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk
Naomi Wilcox, Martine Dumont, Anna González-Neira, Sara Carvalho, Charles Joly Beauparlant, Marco Crotti, Craig Luccarini, Penny Soucy, Stéphane Dubois, Rocio Nuñez-Torres, Guillermo Pita, Eugene J. Gardner, Joe Dennis, M. Rosario Alonso, Nuria Álvarez, Caroline Baynes, Annie Claude Collin-Deschesnes, Sylvie Desjardins, Heiko Becher, Sabine Behrens, Manjeet K. Bolla, Jose E. Castelao, Jenny Chang-Claude, Sten Cornelissen, Thilo Dörk, Christoph Engel, Manuela Gago-Dominguez, Pascal Guénel, Andreas Hadjisavvas, Eric Hahnen, Mikael Hartman, Belén Herráez, SGBCC Investigators, Audrey Jung, Renske Keeman, Marion Kiechle, Jingmei Li, Maria A. Loizidou, Michael Lush, Kyriaki Michailidou, Mihalis I. Panayiotidis, Xueling Sim, Soo Hwang Teo, Jonathan P. Tyrer, Lizet E. van der Kolk, Cecilia Wahlström, Qin Wang, John R. B. Perry, Javier Benitez, Marjanka K. Schmidt, Rita K. Schmutzler, Paul D. P. Pharoah, Arnaud Droit, Alison M. Dunning, Anders Kvist, Peter Devilee, Douglas F. Easton, Jacques Simard
Nat Genet. 2023; 55(9): 1435–1439. Published online 2023 Aug 17. doi: 10.1038/s41588-023-01466-z
Correction in:
Nat Genet. 2023; 55(11): 2009.
PMCID:
PMC10484782
AbstractArticlePDF–3.5M
15.
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
AbstractArticlePDF–1.1M
16.
A Novel CUL3 Variant causing Familial Hyperkalemic Hypertension Impairs Regulation and Function of Ubiquitin Ligase activity
Harish E. Chatrathi, Jason C. Collins, Lynne A. Wolfe, Thomas C. Markello, David R. Adams, William A. Gahl, Achim Werner, Prashant Sharma
Hypertension. Author manuscript; available in PMC 2023 Jan 1.
Published in final edited form as: Hypertension. 2022 Jan; 79(1): 60–75. Published online 2021 Dec 2. doi: 10.1161/HYPERTENSIONAHA.121.17624
PMCID:
PMC8667186
AbstractArticlePDF–1.6M
17.
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
AbstractArticlePDF–1.9M
18.
An empirical framework for binary interactome mapping
Kavitha Venkatesan, Jean-François Rual, Alexei Vazquez, Ulrich Stelzl, Irma Lemmens, Tomoko Hirozane-Kishikawa, Tong Hao, Martina Zenkner, Xiaofeng Xin, Kwang-II Goh, Muhammed A Yildirim, Nicolas Simonis, Kathrin Heinzmann, Fana Gebreab, Julie M Sahalie, Sebiha Cevik, Christophe Simon, Anne-Sophie de Smet, Elizabeth Dann, Alex Smolyar, Arunachalam Vinayagam, Haiyuan Yu, David Szeto, Heather Borick, Amélie Dricot, Niels Klitgord, Ryan R Murray, Chenwei Lin, Maciej Lalowski, Jan Timm, Kirstin Rau, Charles Boone, Pascal Braun, Michael E Cusick, Frederick P Roth, David E Hill, Jan Tavernier, Erich E Wanker, Albert-László Barabási, Marc Vidal
Nat Methods. Author manuscript; available in PMC 2010 May 18.
Published in final edited form as: Nat Methods. 2009 Jan; 6(1): 83–90. Published online 2008 Dec 7. doi: 10.1038/nmeth.1280
PMCID:
PMC2872561
AbstractArticlePDF–1.0M
19.
Genome-wide CRISPR screening reveals genetic modifiers of mutant EGFR dependence in human NSCLC
Hao Zeng, Johnny Castillo-Cabrera, Mika Manser, Bo Lu, Zinger Yang, Vaik Strande, Damien Begue, Raffaella Zamponi, Shumei Qiu, Frederic Sigoillot, Qiong Wang, Alicia Lindeman, John S Reece-Hoyes, Carsten Russ, Debora Bonenfant, Xiaomo Jiang, Youzhen Wang, Feng Cong
eLife. 2019; 8: e50223. Published online 2019 Nov 19. doi: 10.7554/eLife.50223
PMCID:
PMC6927754
AbstractArticlePDF–5.1M
20.
A genome annotation-driven approach to cloning the human ORFeome
John E Collins, Charmain L Wright, Carol A Edwards, Matthew P Davis, James A Grinham, Charlotte G Cole, Melanie E Goward, Begoña Aguado, Meera Mallya, Younes Mokrab, Elizabeth J Huckle, David M Beare, Ian Dunham
Genome Biol. 2004; 5(10): R84. Published online 2004 Sep 30. doi: 10.1186/gb-2004-5-10-r84
PMCID:
PMC545604
AbstractArticlePDF–762K

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