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Select item 47549371.

Mitral regurgitation as a phenotypic manifestation of nonphotosensitive trichothiodystrophy due to a splice variant in MPLKIP

Khadim Shah, Raja Hussain Ali, Muhammad Ansar, Kwanghyuk Lee, Muhammad Salman Chishti, Izoduwa Abbe, Biao Li, University of Washington Center for Mendelian Genomics, Joshua D. Smith, Deborah A. Nickerson, Jay Shendure, Paul J. Coucke, Wouter Steyaert, Michael J. Bamshad, Regie Lyn P. Santos-Cortez, Suzanne M. Leal, Wasim Ahmad

BMC Med Genet. 2016; 17: 13. Published online 2016 Feb 16. doi: 10.1186/s12881-016-0275-5

PMCID:: PMC4754937

Abstract Article PDF–1.5M

Select item 45306292.

Mutations in the TTDN1 gene are associated with a distinct trichothiodystrophy phenotype

Elizabeth R. Heller, Sikandar G. Khan, Christiane Kuschal, Deborah Tamura, John J. DiGiovanna, Kenneth H. Kraemer

J Invest Dermatol. Author manuscript; available in PMC 2015 Sep 1.

Published in final edited form as: J Invest Dermatol. 2015 Mar; 135(3): 734–741. Published online 2014 Oct 7. doi: 10.1038/jid.2014.440

PMCID:: PMC4530629

Abstract Article PDF–490K

Select item 106308753.

Trichothiodystrophy‐associated MPLKIP maintains DBR1 levels for proper lariat debranching and ectodermal differentiation

Arjan F Theil, Alex Pines, Tuğba Kalayci, José M Heredia‐Genestar, Anja Raams, Marion H Rietveld, Sriram Sridharan, Sabine EJ Tanis, Klaas W Mulder, Nesimi Büyükbabani, Birsen Karaman, Zehra O Uyguner, Hülya Kayserili, Jan HJ Hoeijmakers, Hannes Lans, Jeroen AA Demmers, Joris Pothof, Umut Altunoglu, Abdoelwaheb El Ghalbzouri, Wim Vermeulen

EMBO Mol Med. 2023 Nov; 15(11): e17973. Published online 2023 Oct 6. doi: 10.15252/emmm.202317973

PMCID:: PMC10630875

Abstract Article PDF–3.9M

Select item 104702074.

Activation of human RNA lariat debranching enzyme Dbr1 by binding protein TTDN1 occurs though an intrinsically disordered C-terminal domain

Nathaniel E. Clark, Adam Katolik, Pascal Gallant, Anastasia Welch, Eileen Murphy, Luke Buerer, Christoph Schorl, Nandita Naik, Mandar T. Naik, Stephen P. Holloway, Kristin Cano, Susan T. Weintraub, Katherine M. Howard, P. John Hart, Gerwald Jogl, Masad J. Damha, William G. Fairbrother

J Biol Chem. 2023 Sep; 299(9): 105100. Published online 2023 Jul 26. doi: 10.1016/j.jbc.2023.105100

PMCID:: PMC10470207

Abstract Article PDF–1.9M

Select item 111384135.

TTDN1 is a Plk1-interacting protein involved in maintenance of cell cycle integrity

Y. Zhang, Y. Tian, Q. Chen, D. Chen, Z. Zhai, H.-B. Shu

Cell Mol Life Sci. 2007 Mar; 64(5): 632–640. Published online 2007 Feb 19. doi: 10.1007/s00018-007-6501-8

PMCID:: PMC11138413

Abstract Article PDF–683K

Select item 11964016.

Identification of C7orf11 (TTDN1) Gene Mutations and Genetic Heterogeneity in Nonphotosensitive Trichothiodystrophy

Kazuhiko Nakabayashi, Daniela Amann, Yan Ren, Ulpu Saarialho-Kere, Nili Avidan, Simone Gentles, Jeffrey R. MacDonald, Erik G. Puffenberger, Angela M. Christiano, Amalia Martinez-Mir, Julio C. Salas-Alanis, Renata Rizzo, Esther Vamos, Anja Raams, Clifford Les, Eric Seboun, Nicolaas G. J. Jaspers, Jacques S. Beckmann, Charles E. Jackson, Stephen W. Scherer

Am J Hum Genet. 2005 Mar; 76(3): 510–516. Published online 2005 Jan 11. doi: 10.1086/428141

PMCID:: PMC1196401

Abstract Article PDF–546K

Select item 68923937.

Genetic Screens Reveal FEN1 and APEX2 as BRCA2 Synthetic Lethal Targets

Kristen Mengwasser, Richard Adeyemi, Yumei Leng, Mei Yuk Choi, Connor Clairmont, Alan D’Andrea, Stephen J. Elledge

Mol Cell. Author manuscript; available in PMC 2019 Dec 4.

Published in final edited form as: Mol Cell. 2019 Mar 7; 73(5): 885–899.e6. Published online 2019 Jan 24. doi: 10.1016/j.molcel.2018.12.008

PMCID:: PMC6892393

Abstract Article PDF–1.7M

Select item 28829618.

Human Chromosome 7: DNA Sequence and Biology

Stephen W. Scherer, Joseph Cheung, Jeffrey R. MacDonald, Lucy R. Osborne, Kazuhiko Nakabayashi, Jo-Anne Herbrick, Andrew R. Carson, Layla Parker-Katiraee, Jennifer Skaug, Razi Khaja, Junjun Zhang, Alexander K. Hudek, Martin Li, May Haddad, Gavin E. Duggan, Bridget A. Fernandez, Emiko Kanematsu, Simone Gentles, Constantine C. Christopoulos, Sanaa Choufani, Dorota Kwasnicka, Xiangqun H. Zheng, Zhongwu Lai, Deborah Nusskern, Qing Zhang, Zhiping Gu, Fu Lu, Susan Zeesman, Malgorzata J. Nowaczyk, Ikuko Teshima, David Chitayat, Cheryl Shuman, Rosanna Weksberg, Elaine H. Zackai, Theresa A. Grebe, Sarah R. Cox, Susan J. Kirkpatrick, Nazneen Rahman, Jan M. Friedman, Henry H. Q. Heng, Pier Giuseppe Pelicci, Francesco Lo-Coco, Elena Belloni, Lisa G. Shaffer, Barbara Pober, Cynthia C. Morton, James F. Gusella, Gail A. P. Bruns, Bruce R. Korf, Bradley J. Quade, Azra H. Ligon, Heather Ferguson, Anne W. Higgins, Natalia T. Leach, Steven R. Herrick, Emmanuelle Lemyre, Chantal G. Farra, Hyung-Goo Kim, Anne M. Summers, Karen W. Gripp, Wendy Roberts, Peter Szatmari, Elizabeth J. T. Winsor, Karl-Heinz Grzeschik, Ahmed Teebi, Berge A. Minassian, Juha Kere, Lluis Armengol, Miguel Angel Pujana, Xavier Estivill, Michael D. Wilson, Ben F. Koop, Sabrina Tosi, Gudrun E. Moore, Andrew P. Boright, Eitan Zlotorynski, Batsheva Kerem, Peter M. Kroisel, Erwin Petek, David G. Oscier, Sarah J. Mould, Hartmut Döhner, Konstanze Döhner, Johanna M. Rommens, John B. Vincent, J. Craig Venter, Peter W. Li, Richard J. Mural, Mark D. Adams, Lap-Chee Tsui

Science. Author manuscript; available in PMC 2010 Jun 9.

Published in final edited form as: Science. 2003 May 2; 300(5620): 767–772. Published online 2003 Apr 10. doi: 10.1126/science.1083423

PMCID:: PMC2882961

Abstract Article PDF–1.2M

Select item 57254949.

Cell cycle-dependent phosphorylation regulates RECQL4 pathway choice and ubiquitination in DNA double-strand break repair

Huiming Lu, Raghavendra A. Shamanna, Jessica K. de Freitas, Mustafa Okur, Prabhat Khadka, Tomasz Kulikowicz, Priscella P. Holland, Jane Tian, Deborah L. Croteau, Anthony J. Davis, Vilhelm A. Bohr

Nat Commun. 2017; 8: 2039. Published online 2017 Dec 11. doi: 10.1038/s41467-017-02146-3

PMCID:: PMC5725494

Abstract Article PDF–4.0M

Select item 977255810.

HDLBP Promotes Hepatocellular Carcinoma Proliferation and Sorafenib Resistance by Suppressing Trim71-dependent RAF1 Degradation

Jingsheng Yuan, Tao Lv, Jian Yang, Zhenru Wu, Lvnan Yan, Jiayin Yang, Yujun Shi, Li Jiang

Cell Mol Gastroenterol Hepatol. 2023; 15(2): 307–325. Published online 2022 Oct 14. doi: 10.1016/j.jcmgh.2022.10.005

PMCID:: PMC9772558

Abstract Article PDF–8.2M

Select item 546103111.

Assembly of the U5 snRNP component PRPF8 is controlled by the HSP90/R2TP chaperones

Anna Malinová, Zuzana Cvačková, Daniel Matějů, Zuzana Hořejší, Claire Abéza, Franck Vandermoere, Edouard Bertrand, David Staněk, Céline Verheggen

J Cell Biol. 2017 Jun 5; 216(6): 1579–1596. doi: 10.1083/jcb.201701165

PMCID:: PMC5461031

Abstract Article PDF–2.9M

Select item 480585512.

Substrate-Trapped Interactors of PHD3 and FIH Cluster in Distinct Signaling Pathways

Javier Rodriguez, Ruth Pilkington, Amaya Garcia Munoz, Lan K. Nguyen, Nora Rauch, Susan Kennedy, Naser Monsefi, Ana Herrero, Cormac T. Taylor, Alex von Kriegsheim

Cell Rep. 2016 Mar 22; 14(11): 2745–2760. Published online 2016 Mar 10. doi: 10.1016/j.celrep.2016.02.043

PMCID:: PMC4805855

Abstract Article PDF–4.6M

Select item 464794113.

hORFeome v3.1: A resource of human open reading frames representing over 10,000 human genes

Philippe Lamesch, Ning Li, Stuart Milstein, Changyu Fan, Tong Hao, Gabor Szabo, Zhenjun Hu, Kavitha Venkatesan, Graeme Bethel, Paul Martin, Jane Rogers, Stephanie Lawlor, Stuart McLaren, Amélie Dricot, Heather Borick, Michael E. Cusick, Jean Vandenhaute, Ian Dunham, David E. Hill, Marc Vidal

Genomics. 2007 Mar; 89(3): 307–315. doi: 10.1016/j.ygeno.2006.11.012

PMCID:: PMC4647941

Abstract Article

Select item 476457314.

A deep proteomics perspective on CRM1-mediated nuclear export and nucleocytoplasmic partitioning

Koray Kırlı, Samir Karaca, Heinz Jürgen Dehne, Matthias Samwer, Kuan Ting Pan, Christof Lenz, Henning Urlaub, Dirk Görlich

eLife. 2015; 4: e11466. Published online 2015 Dec 17. doi: 10.7554/eLife.11466

PMCID:: PMC4764573

Abstract Article PDF–5.7M

Select item 347780415.

A Census of Human Soluble Protein Complexes

Pierre C. Havugimana, G. Traver Hart, Tamás Nepusz, Haixuan Yang, Andrei L. Turinsky, Zhihua Li, Peggy I. Wang, Daniel R. Boutz, Vincent Fong, Sadhna Phanse, Mohan Babu, Stephanie A. Craig, Pingzhao Hu, Cuihong Wan, James Vlasblom, Vaqaarun-Nisa Dar, Alexander Bezginov, Gregory W. Clark, Gabriel C. Wu, Shoshana J. Wodak, Elisabeth R.M. Tillier, Alberto Paccanaro, Edward M. Marcotte, Andrew Emili

Cell. Author manuscript; available in PMC 2013 Aug 31.

Published in final edited form as: Cell. 2012 Aug 31; 150(5): 1068–1081. doi: 10.1016/j.cell.2012.08.011

PMCID:: PMC3477804

Abstract Article PDF–7.7M

Select item 461721116.

The BioPlex Network: A Systematic Exploration of the Human Interactome

Edward L. Huttlin, Lily Ting, Raphael J. Bruckner, Fana Gebreab, Melanie P. Gygi, John Szpyt, Stanley Tam, Gabriela Zarraga, Greg Colby, Kurt Baltier, Rui Dong, Virginia Guarani, Laura Pontano Vaites, Alban Ordureau, Ramin Rad, Brian K. Erickson, Martin Wühr, Joel Chick, Bo Zhai, Deepak Kolippakkam, Julian Mintseris, Robert A. Obar, Tim Harris, Spyros Artavanis-Tsakonas, Mathew E. Sowa, Pietro DeCamilli, Joao A. Paulo, J. Wade Harper, Steven P. Gygi

Cell. Author manuscript; available in PMC 2016 Jul 16.

Published in final edited form as: Cell. 2015 Jul 16; 162(2): 425–440. doi: 10.1016/j.cell.2015.06.043

PMCID:: PMC4617211

Abstract Article PDF–2.2M

Select item 716998317.

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 553161118.

Architecture of the human interactome defines protein communities and disease networks

Edward L. Huttlin, Raphael J. Bruckner, Joao A. Paulo, Joe R. Cannon, Lily Ting, Kurt Baltier, Greg Colby, Fana Gebreab, Melanie P. Gygi, Hannah Parzen, John Szpyt, Stanley Tam, Gabriela Zarraga, Laura Pontano-Vaites, Sharan Swarup, Anne E. White, Devin K. Schweppe, Ramin Rad, Brian K. Erickson, Robert A. Obar, K.G. Guruharsha, Kejie Li, Spyros Artavanis-Tsakonas, Steven P. Gygi, J. Wade Harper

Nature. Author manuscript; available in PMC 2017 Nov 17.

Published in final edited form as: Nature. 2017 May 25; 545(7655): 505–509. Published online 2017 May 17. doi: 10.1038/nature22366

PMCID:: PMC5531611

Abstract Article PDF–2.7M

Select item 816503019.

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