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Items: 1 to 20 of 29

1.
Genetic Variants in KCTD1 Are Associated with Isolated Dental Anomalies
Cholaporn Ruangchan, Chumpol Ngamphiw, Annop Krasaesin, Narin Intarak, Sissades Tongsima, Massupa Kaewgahya, Katsushige Kawasaki, Phitsanu Mahawong, Kullaya Paripurana, Bussaneeya Sookawat, Peeranat Jatooratthawichot, Timothy C. Cox, Atsushi Ohazama, James R. Ketudat Cairns, Thantrira Porntaveetus, Piranit Kantaputra
Int J Mol Sci. 2024 May; 25(10): 5179. Published online 2024 May 9. doi: 10.3390/ijms25105179
PMCID:
PMC11121487
AbstractArticlePDF–12M
2.
KCTD1/KCTD15 complexes control ectodermal and neural crest cell functions, and their impairment causes aplasia cutis
Jackelyn R. Raymundo, Hui Zhang, Giovanni Smaldone, Wenjuan Zhu, Kathleen E. Daly, Benjamin J. Glennon, Giovanni Pecoraro, Marco Salvatore, William A. Devine, Cecilia W. Lo, Luigi Vitagliano, Alexander G. Marneros
J Clin Invest. 2024 Feb 15; 134(4): e174138. Published online 2023 Dec 19. doi: 10.1172/JCI174138
PMCID:
PMC10866662
AbstractArticlePDF–143M
3.
The E3 ubiquitin ligase HECTD1 contributes to cell proliferation through an effect on mitosis
Natalie Vaughan, Nico Scholz, Catherine Lindon, Julien D. F. Licchesi
Sci Rep. 2022; 12: 13160. Published online 2022 Aug 1. doi: 10.1038/s41598-022-16965-y
PMCID:
PMC9343455
AbstractArticlePDF–3.7M
4.
Competitive binding of E3 ligases TRIM26 and WWP2 controls SOX2 in glioblastoma
Tatenda Mahlokozera, Bhuvic Patel, Hao Chen, Patrick Desouza, Xuan Qu, Diane D. Mao, Daniel Hafez, Wei Yang, Rukayat Taiwo, Mounica Paturu, Afshin Salehi, Amit D. Gujar, Gavin P. Dunn, Nima Mosammaparast, Allegra A. Petti, Hiroko Yano, Albert H. Kim
Nat Commun. 2021; 12: 6321. Published online 2021 Nov 3. doi: 10.1038/s41467-021-26653-6
PMCID:
PMC8566473
AbstractArticlePDF–2.7M
5.
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
AbstractArticlePDF–2.2M
6.
Magnesium and Calcium Homeostasis Depend on KCTD1 Function in the Distal Nephron
Alexander G. Marneros
Cell Rep. Author manuscript; available in PMC 2021 Feb 8.
Published in final edited form as: Cell Rep. 2021 Jan 12; 34(2): 108616. doi: 10.1016/j.celrep.2020.108616
PMCID:
PMC7869691
AbstractArticlePDF–3.8M
7.
BCAR1 promotes proliferation and cell growth in lung adenocarcinoma via upregulation of POLR2A
Chun‐guo Mao, Sha‐sha Jiang, Cheng Shen, Tan Long, Hua Jin, Qun‐You Tan, Bo Deng
Thorac Cancer. 2020 Nov; 11(11): 3326–3336. Published online 2020 Oct 1. doi: 10.1111/1759-7714.13676
PMCID:
PMC7606008
AbstractArticlePDF–2.5M
8.
Systematic mapping of genetic interactions for de novo fatty acid synthesis identifies C12orf49 as a regulator of lipid metabolism
Michael Aregger, Keith A. Lawson, Maximillian Billmann, Michael Costanzo, Amy H. Y. Tong, Katherine Chan, Mahfuzur Rahman, Kevin R. Brown, Catherine Ross, Matej Usaj, Lucy Nedyalkova, Olga Sizova, Andrea Habsid, Judy Pawling, Zhen-Yuan Lin, Hala Abdouni, Cassandra J. Wong, Alexander Weiss, Patricia Mero, James W. Dennis, Anne-Claude Gingras, Chad L. Myers, Brenda J. Andrews, Charles Boone, Jason Moffat
Nat Metab. Author manuscript; available in PMC 2020 Dec 1.
Published in final edited form as: Nat Metab. 2020 Jun; 2(6): 499–513. Published online 2020 Jun 1. doi: 10.1038/s42255-020-0211-z
PMCID:
PMC7566881
AbstractArticlePDF–4.8M
9.
KCTD1 mutants in scalp-ear-nipple syndrome and AP-2α P59A in Char syndrome reciprocally abrogate their interactions, but can regulate Wnt/β-catenin signaling
Lingyu Hu, Li Chen, Liu Yang, Zi Ye, Wenhuan Huang, Xinxin Li, Qing Liu, Junlu Qiu, Xiaofeng Ding
Mol Med Rep. 2020 Nov; 22(5): 3895–3903. Published online 2020 Aug 24. doi: 10.3892/mmr.2020.11457
PMCID:
PMC7533495
AbstractArticlePDF–799K
10.
AP-2β/KCTD1 control distal nephron differentiation and protect against renal fibrosis
Alexander G. Marneros
Dev Cell. Author manuscript; available in PMC 2021 Aug 10.
Published in final edited form as: Dev Cell. 2020 Aug 10; 54(3): 348–366.e5. Published online 2020 Jun 17. doi: 10.1016/j.devcel.2020.05.026
PMCID:
PMC7497565
AbstractArticlePDF–4.6M
11.
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
AbstractArticlePDF–5.4M
12.
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations
Robert Fragoza, Jishnu Das, Shayne D. Wierbowski, Jin Liang, Tina N. Tran, Siqi Liang, Juan F. Beltran, Christen A. Rivera-Erick, Kaixiong Ye, Ting-Yi Wang, Li Yao, Matthew Mort, Peter D. Stenson, David N. Cooper, Xiaomu Wei, Alon Keinan, John C. Schimenti, Andrew G. Clark, Haiyuan Yu
Nat Commun. 2019; 10: 4141. Published online 2019 Sep 12. doi: 10.1038/s41467-019-11959-3
PMCID:
PMC6742646
AbstractArticlePDF–1.2M
13.
Molecular basis of the scalp-ear-nipple syndrome unraveled by the characterization of disease-causing KCTD1 mutants
Giovanni Smaldone, Nicole Balasco, Luciano Pirone, Daniela Caruso, Sonia Di Gaetano, Emilia Maria Pedone, Luigi Vitagliano
Sci Rep. 2019; 9: 10519. Published online 2019 Jul 19. doi: 10.1038/s41598-019-46911-4
PMCID:
PMC6642198
AbstractArticlePDF–2.3M
14.
An interactome perturbation framework prioritizes damaging missense mutations for developmental disorders
Siwei Chen, Robert Fragoza, Lambertus Klei, Yuan Liu, Jiebiao Wang, Kathryn Roeder, Bernie Devlin, Haiyuan Yu
Nat Genet. Author manuscript; available in PMC 2019 Jul 1.
Published in final edited form as: Nat Genet. 2018 Jul; 50(7): 1032–1040. Published online 2018 Jun 11. doi: 10.1038/s41588-018-0130-z
PMCID:
PMC6314957
AbstractArticlePDF–1.3M
15.
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
AbstractArticlePDF–4.0M
16.
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
AbstractArticlePDF–2.7M
17.
Bivalent Copper Ions Promote Fibrillar Aggregation of KCTD1 and Induce Cytotoxicity
Zhepeng Liu, Feifei Song, Zhi-li Ma, Qiushuang Xiong, Jingwen Wang, Deyin Guo, Guihong Sun
Sci Rep. 2016; 6: 32658. Published online 2016 Sep 6. doi: 10.1038/srep32658
PMCID:
PMC5011690
AbstractArticlePDF–1.6M
18.
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
AbstractArticle
19.
A proteome-scale map of the human interactome network
Thomas Rolland, Murat Taşan, Benoit Charloteaux, Samuel J. Pevzner, Quan Zhong, Nidhi Sahni, Song Yi, Irma Lemmens, Celia Fontanillo, Roberto Mosca, Atanas Kamburov, Susan D. Ghiassian, Xinping Yang, Lila Ghamsari, Dawit Balcha, Bridget E. Begg, Pascal Braun, Marc Brehme, Martin P. Broly, Anne-Ruxandra Carvunis, Dan Convery-Zupan, Roser Corominas, Jasmin Coulombe-Huntington, Elizabeth Dann, Matija Dreze, Amélie Dricot, Changyu Fan, Eric Franzosa, Fana Gebreab, Bryan J. Gutierrez, Madeleine F. Hardy, Mike Jin, Shuli Kang, Ruth Kiros, Guan Ning Lin, Katja Luck, Andrew MacWilliams, Jörg Menche, Ryan R. Murray, Alexandre Palagi, Matthew M. Poulin, Xavier Rambout, John Rasla, Patrick Reichert, Viviana Romero, Elien Ruyssinck, Julie M. Sahalie, Annemarie Scholz, Akash A. Shah, Amitabh Sharma, Yun Shen, Kerstin Spirohn, Stanley Tam, Alexander O. Tejeda, Shelly A. Wanamaker, Jean-Claude Twizere, Kerwin Vega, Jennifer Walsh, Michael E. Cusick, Yu Xia, Albert-László Barabási, Lilia M. Iakoucheva, Patrick Aloy, Javier De Las Rivas, Jan Tavernier, Michael A. Calderwood, David E. Hill, Tong Hao, Frederick P. Roth, Marc Vidal
Cell. Author manuscript; available in PMC 2015 Nov 20.
Published in final edited form as: Cell. 2014 Nov 20; 159(5): 1212–1226. doi: 10.1016/j.cell.2014.10.050
PMCID:
PMC4266588
AbstractArticlePDF–3.1M
20.
Mutations in KCTD1 Cause Scalp-Ear-Nipple Syndrome
Alexander G. Marneros, Anita E. Beck, Emily H. Turner, Margaret J. McMillin, Matthew J. Edwards, Michael Field, Nara Lygia de Macena Sobreira, Ana Beatriz A. Perez, Jose A.R. Fortes, Anne K. Lampe, Maria Luisa Giovannucci Uzielli, Christopher T. Gordon, Ghislaine Plessis, Martine Le Merrer, Jeanne Amiel, Ernst Reichenberger, Kathryn M. Shively, Felecia Cerrato, Brian I. Labow, Holly K. Tabor, Joshua D. Smith, Jay Shendure, Deborah A. Nickerson, Michael J. Bamshad, the University of Washington Center for Mendelian Genomics
Am J Hum Genet. 2013 Apr 4; 92(4): 621–626. doi: 10.1016/j.ajhg.2013.03.002
PMCID:
PMC3617379
AbstractArticlePDF–626K

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