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Select item 89183581.

Dhanya Lakshmi Narayanan, Puneeth H Somashekar, Purvi Majethia, Anju Shukla

Clin Dysmorphol. Author manuscript; available in PMC 2023 Jan 1.

Published in final edited form as: Clin Dysmorphol. 2022 Jan 1; 31(1): 6–10. doi: 10.1097/MCD.0000000000000394

PMCID:: PMC8918358

Abstract Article PDF–212K

Select item 85066312.

BTB/POZ domain‐containing protein 7/hypoxia‐inducible factor 1 alpha signalling axis modulates hepatocellular carcinoma metastasis

Kuan Hu, Juanni Li, Zhiming Wang, Yuanliang Yan, Yuan Cai, Bi Peng, Jinzhou Huang, Dongren He, Lei Zhou, Zhijie Xu, Yiming Tao

Clin Transl Med. 2021 Oct; 11(10): e556. Published online 2021 Oct 12. doi: 10.1002/ctm2.556

PMCID:: PMC8506631

Article PDF–3.4M

Select item 37739143.

Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene

Maria Kousi, Verneri Anttila, Angela Schulz, Stella Calafato, Eveliina Jakkula, Erik Riesch, Liisa Myllykangas, Hannu Kalimo, Meral Topcu, Sarenur Gokben, Fusun Alehan, Johannes R Lemke, Michael Alber, Aarno Palotie, Outi Kopra, Anna-Elina Lehesjoki

J Med Genet. Author manuscript; available in PMC 2013 Sep 16.

Published in final edited form as: J Med Genet. 2012 Jun; 49(6): 391–399. doi: 10.1136/jmedgenet-2012-100859

PMCID:: PMC3773914

Abstract Article PDF–2.2M

Select item 110845534.

KCTD Proteins Have Redundant Functions in Controlling Cellular Growth

Robert Rizk, Dominic Devost, Darlaine Pétrin, Terence E. Hébert

Int J Mol Sci. 2024 May; 25(9): 4993. Published online 2024 May 3. doi: 10.3390/ijms25094993

PMCID:: PMC11084553

Abstract Article PDF–2.9M

Select item 62954195.

KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defect

Kyle A Metz, Xinchen Teng, Isabelle Coppens, Heather M. Lamb, Bart E. Wagner, Jill A. Rosenfeld, Xianghui Chen, Yu Zhang, Hee Jong Kim, Michael E. Meadow, Tim Sen Wang, Edda D. Haberlandt, Glenn W. Anderson, Esther Leshinsky-Silver, Weimin Bi, Thomas C. Markello, Marsha Pratt, Nawal Makhseed, Adolfo Garnica, Noelle R. Danylchuk, Thomas A. Burrow, Parul Jayakar, Dianalee McKnight, Satish Agadi, Hatha Gbedawo, Christine Stanley, Michael Alber, Isabelle Prehl, Katrina Peariso, Min Tsui Ong, Santosh R Mordekar, Michael J Parker, Daniel Crooks, Pankaj B. Agrawal, Gerard T. Berry, Tobias Loddenkemper, Yaping Yang, Gustavo H.B. Maegawa, Abdel Aouacheria, Janet G. Markle, James A. Wohlschlegel, Adam L. Hartman, J. Marie Hardwick

Ann Neurol. Author manuscript; available in PMC 2019 Nov 8.

Published in final edited form as: Ann Neurol. 2018 Nov; 84(5): 766–780. Published online 2018 Nov 8. doi: 10.1002/ana.25351

PMCID:: PMC6295419

Abstract Article PDF–4.4M

Select item 33972606.

A Homozygous Mutation in KCTD7 Links Neuronal Ceroid Lipofuscinosis to the Ubiquitin-Proteasome System

John F. Staropoli, Amel Karaa, Elaine T. Lim, Andrew Kirby, Naser Elbalalesy, Stephen G. Romansky, Karen B. Leydiker, Scott H. Coppel, Rosemary Barone, Winnie Xin, Marcy E. MacDonald, Jose E. Abdenur, Mark J. Daly, Katherine B. Sims, Susan L. Cotman

Am J Hum Genet. 2012 Jul 13; 91(1): 202–208. doi: 10.1016/j.ajhg.2012.05.023

PMCID:: PMC3397260

Abstract Article PDF–507K

Select item 93487977.

KCTD7 mutations impair the trafficking of lysosomal enzymes through CLN5 accumulation to cause neuronal ceroid lipofuscinoses

Yalan Wang, Xiaotong Cao, Pei Liu, Weijia Zeng, Rui Peng, Qing Shi, Kai Feng, Pingzhao Zhang, Huiru Sun, Chenji Wang, Hongyan Wang

Sci Adv. 2022 Aug; 8(31): eabm5578. Published online 2022 Aug 3. doi: 10.1126/sciadv.abm5578

PMCID:: PMC9348797

Abstract Article PDF–6.7M

Select item 30270888.

Genome-wide joint SNP and CNV analysis of aortic root diameter in African Americans: the HyperGEN study

Nathan E Wineinger, Amit Patki, Kristin J Meyers, Ulrich Broeckel, Charles C Gu, DC Rao, Richard B Devereux, Donna K Arnett, Hemant K Tiwari

BMC Med Genomics. 2011; 4: 4. Published online 2011 Jan 11. doi: 10.1186/1755-8794-4-4

PMCID:: PMC3027088

Abstract Article PDF–2.0M

Select item 42949529.

The Contribution of Common Genetic Variation to Nicotine and Cotinine Glucuronidation in Multiple Ethnic/Racial Populations

Yesha M. Patel, Daniel O. Stram, Lynne R. Wilkens, Sung-Shim L. Park, Brian E. Henderson, Loic Le Marchand, Christopher A. Haiman, Sharon E. Murphy

Cancer Epidemiol Biomarkers Prev. Author manuscript; available in PMC 2016 Jan 1.

Published in final edited form as: Cancer Epidemiol Biomarkers Prev. 2015 Jan; 24(1): 119–127. Published online 2014 Oct 7. doi: 10.1158/1055-9965.EPI-14-0815

PMCID:: PMC4294952

Abstract Article PDF–590K

Select item 1003899210.

Calpain activity is negatively regulated by a KCTD7–Cullin-3 complex via non-degradative ubiquitination

Jaiprakash Sharma, Shalaka Mulherkar, Uan-I Chen, Yan Xiong, Lakshya Bajaj, Byoung-Kyu Cho, Young Ah Goo, Hon-Chiu Eastwood Leung, Kimberley F. Tolias, Marco Sardiello

Cell Discov. 2023; 9: 32. Published online 2023 Mar 24. doi: 10.1038/s41421-023-00533-3

PMCID:: PMC10038992

Abstract Article PDF–15M

Select item 427558211.

LINKIN, a new transmembrane protein necessary for cell adhesion

Mihoko Kato, Tsui-Fen Chou, Collin Z Yu, John DeModena, Paul W Sternberg

eLife. 2014; 3: e04449. Published online 2014 Dec 1. doi: 10.7554/eLife.04449

PMCID:: PMC4275582

Abstract Article PDF–7.6M

Select item 288296112.

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 484160713.

High-throughput analyses of hnRNP H1 dissects its multi-functional aspect

Philip J. Uren, Emad Bahrami-Samani, Patricia Rosa de Araujo, Christine Vogel, Mei Qiao, Suzanne C. Burns, Andrew D. Smith, Luiz O. F. Penalva

RNA Biol. 2016 Apr; 13(4): 400–411. Published online 2016 Jan 13. doi: 10.1080/15476286.2015.1138030

PMCID:: PMC4841607

Abstract Article PDF–1.6M

Select item 300858614.

Dynamics of cullin-RING ubiquitin ligase network revealed by systematic quantitative proteomics

Eric J. Bennett, John Rush, Steven P. Gygi, J. Wade Harper

Cell. Author manuscript; available in PMC 2011 Dec 10.

Published in final edited form as: Cell. 2010 Dec 10; 143(6): 951–965. doi: 10.1016/j.cell.2010.11.017

PMCID:: PMC3008586

Abstract Article PDF–3.0M

Select item 567858115.

RNA-binding activity of TRIM25 is mediated by its PRY/SPRY domain and is required for ubiquitination

Nila Roy Choudhury, Gregory Heikel, Maryia Trubitsyna, Peter Kubik, Jakub Stanislaw Nowak, Shaun Webb, Sander Granneman, Christos Spanos, Juri Rappsilber, Alfredo Castello, Gracjan Michlewski

BMC Biol. 2017; 15: 105. Published online 2017 Nov 8. doi: 10.1186/s12915-017-0444-9

PMCID:: PMC5678581

Abstract Article PDF–3.2M

Select item 135612916.

Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes

Kouichi Kimura, Ai Wakamatsu, Yutaka Suzuki, Toshio Ota, Tetsuo Nishikawa, Riu Yamashita, Jun-ichi Yamamoto, Mitsuo Sekine, Katsuki Tsuritani, Hiroyuki Wakaguri, Shizuko Ishii, Tomoyasu Sugiyama, Kaoru Saito, Yuko Isono, Ryotaro Irie, Norihiro Kushida, Takahiro Yoneyama, Rie Otsuka, Katsuhiro Kanda, Takahide Yokoi, Hiroshi Kondo, Masako Wagatsuma, Katsuji Murakawa, Shinichi Ishida, Tadashi Ishibashi, Asako Takahashi-Fujii, Tomoo Tanase, Keiichi Nagai, Hisashi Kikuchi, Kenta Nakai, Takao Isogai, Sumio Sugano

Genome Res. 2006 Jan; 16(1): 55–65. doi: 10.1101/gr.4039406

PMCID:: PMC1356129

Abstract Article PDF–438K

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 816503018.

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 52892819.

The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)

Genome Res. 2004 Oct; 14(10b): 2121–2127. doi: 10.1101/gr.2596504

Correction in:: Genome Res. 2006 Jun; 16(6): 804.

PMCID:: PMC528928

Abstract Article PDF–140K

Select item 13924120.

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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