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Select item 110410101.

GEN1 as a risk factor for human congenital anomalies of the kidney and urinary tract

Xuanjin Du, Chunyan Wang, Jialu Liu, Minghui Yu, Haixin Ju, Shanshan Xue, Yaxin Li, Jiaojiao Liu, Rufeng Dai, Jing Chen, Yihui Zhai, Jia Rao, Xiang Wang, Yubo Sun, Lei Sun, Xiaohui Wu, Hong Xu, Qian Shen

Hum Genomics. 2024; 18: 41. Published online 2024 Apr 24. doi: 10.1186/s40246-024-00606-8

PMCID:: PMC11041010

Abstract Article PDF–9.8M

Select item 106287522.

Reverse Transcription-PCR-based Sanger Sequencing-confirmed Exon-skipping Effect of a Novel GEN1 Intronic Variant (c.1408+4A>G)

Jiyeon Kim, Joonsang Yu, Seunghoo Lee, Sollip Kim, In-Seob Lee, Woochang Lee, Sail Chun

Ann Lab Med. 2024 Mar 1; 44(2): 188–191. Published online 2023 Oct 16. doi: 10.3343/alm.2023.0163

PMCID:: PMC10628752

Article PDF–809K

Select item 96769853.

NCAPH Stabilizes GEN1 in Chromatin to Resolve Ultra-Fine DNA Bridges and Maintain Chromosome Stability

Jae Hyeong Kim, Yuna Youn, Jin-Hyeok Hwang

Mol Cells. 2022 Nov 30; 45(11): 792–805. Published online 2022 Nov 11. doi: 10.14348/molcells.2022.0048

PMCID:: PMC9676985

Abstract Article PDF–107M

Select item 95699554.

A Degradation Motif in STAU1 Defines a Novel Family of Proteins Involved in Inflammation

Yulemi Gonzalez Quesada, Luc DesGroseillers

Int J Mol Sci. 2022 Oct; 23(19): 11588. Published online 2022 Sep 30. doi: 10.3390/ijms231911588

PMCID:: PMC9569955

Abstract Article PDF–2.1M

Select item 93485765.

Chr21 protein–protein interactions: enrichment in proteins involved in intellectual disability, autism, and late-onset Alzheimer’s disease

Julia Viard, Yann Loe-Mie, Rachel Daudin, Malik Khelfaoui, Christine Plancon, Anne Boland, Francisco Tejedor, Richard L Huganir, Eunjoon Kim, Makoto Kinoshita, Guofa Liu, Volker Haucke, Thomas Moncion, Eugene Yu, Valérie Hindie, Henri Bléhaut, Clotilde Mircher, Yann Herault, Jean-François Deleuze, Jean-Christophe Rain, Michel Simonneau, Aude-Marie Lepagnol-Bestel

Life Sci Alliance. 2022 Dec; 5(12): e202101205. Published online 2022 Aug 1. doi: 10.26508/lsa.202101205

PMCID:: PMC9348576

Abstract Article PDF–3.0M

Select item 91052356.

Cullin 3 Exon 9 Deletion in Familial Hyperkalemic Hypertension Impairs Cullin3-Ring-E3 Ligase (CRL3) Dynamic Regulation and Cycling

Ilektra Kouranti, Waed Abdel Khalek, Stephani Mazurkiewicz, Irmine Loisel-Ferreira, Alexis M. Gautreau, Lionel Pintard, Xavier Jeunemaitre, Eric Clauser

Int J Mol Sci. 2022 May; 23(9): 5151. Published online 2022 May 5. doi: 10.3390/ijms23095151

PMCID:: PMC9105235

Abstract Article PDF–5.8M

Select item 88970227.

Histone deacetylase inhibitors inhibit cervical cancer growth through Parkin acetylation-mediated mitophagy

Xin Sun, Yuhan Shu, Guiqin Ye, Caixia Wu, Mengting Xu, Ruilan Gao, Dongsheng Huang, Jianbin Zhang

Acta Pharm Sin B. 2022 Feb; 12(2): 838–852. Published online 2021 Jul 21. doi: 10.1016/j.apsb.2021.07.003

PMCID:: PMC8897022

Abstract Article PDF–3.0M

Select item 81650308.

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 73341979.

The mutational constraint spectrum quantified from variation in 141,456 humans

Konrad J. Karczewski, Laurent C. Francioli, Grace Tiao, Beryl B. Cummings, Jessica Alföldi, Qingbo Wang, Ryan L. Collins, Kristen M. Laricchia, Andrea Ganna, Daniel P. Birnbaum, Laura D. Gauthier, Harrison Brand, Matthew Solomonson, Nicholas A. Watts, Daniel Rhodes, Moriel Singer-Berk, Eleina M. England, Eleanor G. Seaby, Jack A. Kosmicki, Raymond K. Walters, Katherine Tashman, Yossi Farjoun, Eric Banks, Timothy Poterba, Arcturus Wang, Cotton Seed, Nicola Whiffin, Jessica X. Chong, Kaitlin E. Samocha, Emma Pierce-Hoffman, Zachary Zappala, Anne H. O’Donnell-Luria, Eric Vallabh Minikel, Ben Weisburd, Monkol Lek, James S. Ware, Christopher Vittal, Irina M. Armean, Louis Bergelson, Kristian Cibulskis, Kristen M. Connolly, Miguel Covarrubias, Stacey Donnelly, Steven Ferriera, Stacey Gabriel, Jeff Gentry, Namrata Gupta, Thibault Jeandet, Diane Kaplan, Christopher Llanwarne, Ruchi Munshi, Sam Novod, Nikelle Petrillo, David Roazen, Valentin Ruano-Rubio, Andrea Saltzman, Molly Schleicher, Jose Soto, Kathleen Tibbetts, Charlotte Tolonen, Gordon Wade, Michael E. Talkowski, Genome Aggregation Database Consortium, Benjamin M. Neale, Mark J. Daly, Daniel G. MacArthur

Nature. 2020; 581(7809): 434–443. Published online 2020 May 27. doi: 10.1038/s41586-020-2308-7

Correction in:: Nature. 2021; 590(7846): E53.

PMCID:: PMC7334197

Abstract Article PDF–3.1M

Select item 730679210.

Common homozygosity for predicted loss-of-function variants reveals both redundant and advantageous effects of dispensable human genes

Antonio Rausell, Yufei Luo, Marie Lopez, Yoann Seeleuthner, Franck Rapaport, Antoine Favier, Peter D. Stenson, David N. Cooper, Etienne Patin, Jean-Laurent Casanova, Lluis Quintana-Murci, Laurent Abel

Proc Natl Acad Sci U S A. 2020 Jun 16; 117(24): 13626–13636. Published online 2020 Jun 2. doi: 10.1073/pnas.1917993117

PMCID:: PMC7306792

Abstract Article PDF–1.0M

Select item 677813711.

The midbody interactome reveals unexpected roles for PP1 phosphatases in cytokinesis

Luisa Capalbo, Zuni I. Bassi, Marco Geymonat, Sofia Todesca, Liviu Copoiu, Anton J. Enright, Giuliano Callaini, Maria Giovanna Riparbelli, Lu Yu, Jyoti S. Choudhary, Enrico Ferrero, Sally Wheatley, Max E. Douglas, Masanori Mishima, Pier Paolo D’Avino

Nat Commun. 2019; 10: 4513. Published online 2019 Oct 4. doi: 10.1038/s41467-019-12507-9

PMCID:: PMC6778137

Abstract Article PDF–7.8M

Select item 671373612.

Proximity interactions of the ubiquitin ligase Mind bomb 1 reveal a role in regulation of epithelial polarity complex proteins

Sascha E. Dho, Nancy Silva-Gagliardi, Fabio Morgese, Etienne Coyaud, Emily Lamoureux, Donna M. Berry, Brian Raught, C. Jane McGlade

Sci Rep. 2019; 9: 12471. Published online 2019 Aug 28. doi: 10.1038/s41598-019-48902-x

PMCID:: PMC6713736

Abstract Article PDF–5.6M

Select item 659455113.

PLEKHA4/kramer Attenuates Dishevelled Ubiquitination to Modulate Wnt and Planar Cell Polarity Signaling

Adnan Shami Shah, Alex G. Batrouni, Dongsung Kim, Amith Punyala, Wendy Cao, Chun Han, Michael L. Goldberg, Marcus B. Smolka, Jeremy M. Baskin

Cell Rep. Author manuscript; available in PMC 2019 Jun 26.

Published in final edited form as: Cell Rep. 2019 May 14; 27(7): 2157–2170.e8. doi: 10.1016/j.celrep.2019.04.060

PMCID:: PMC6594551

Abstract Article PDF–1.4M

Select item 639330614.

Resolution of the Holliday junction recombination intermediate by human GEN1 at the single-molecule level

Mohamed A Sobhy, Amer Bralić, Vlad-Stefan Raducanu, Masateru Takahashi, Muhammad Tehseen, Fahad Rashid, Manal S Zaher, Samir M Hamdan

Nucleic Acids Res. 2019 Feb 28; 47(4): 1935–1949. Published online 2018 Dec 22. doi: 10.1093/nar/gky1280

PMCID:: PMC6393306

Abstract Article PDF–998K

Select item 612890515.

Interrogating the protein interactomes of RAS isoforms identifies PIP5K1A as a KRAS-specific vulnerability

Hema Adhikari, Christopher M. Counter

Nat Commun. 2018; 9: 3646. Published online 2018 Sep 7. doi: 10.1038/s41467-018-05692-6

PMCID:: PMC6128905

Abstract Article PDF–2.2M

Select item 607772216.

Estrogen-regulated feedback loop limits the efficacy of estrogen receptor–targeted breast cancer therapy

Tengfei Xiao, Wei Li, Xiaoqing Wang, Han Xu, Jixin Yang, Qiu Wu, Ying Huang, Joseph Geradts, Peng Jiang, Teng Fei, David Chi, Chongzhi Zang, Qi Liao, Jonathan Rennhack, Eran Andrechek, Nanlin Li, Simone Detre, Mitchell Dowsett, Rinath M. Jeselsohn, X. Shirley Liu, Myles Brown

Proc Natl Acad Sci U S A. 2018 Jul 31; 115(31): 7869–7878. Published online 2018 Jul 9. doi: 10.1073/pnas.1722617115

PMCID:: PMC6077722

Abstract Article PDF–2.4M

Select item 560029117.

Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity

Danish Saleheen, Pradeep Natarajan, Irina M. Armean, Wei Zhao, Asif Rasheed, Sumeet Khetarpal, Hong-Hee Won, Konrad J. Karczewski, Anne H. O’Donnell-Luria, Kaitlin E. Samocha, Benjamin Weisburd, Namrata Gupta, Mozzam Zaidi, Maria Samuel, Atif Imran, Shahid Abbas, Faisal Majeed, Madiha Ishaq, Saba Akhtar, Kevin Trindade, Megan Mucksavage, Nadeem Qamar, Khan Shah Zaman, Zia Yaqoob, Tahir Saghir, Syed Nadeem Hasan Rizvi, Anis Memon, Nadeem Hayyat Mallick, Mohammad Ishaq, Syed Zahed Rasheed, Fazal-ur-Rehman Memon, Khalid Mahmood, Naveeduddin Ahmed, Ron Do, Ronald M. Krauss, Daniel G. MacArthur, Stacey Gabriel, Eric S. Lander, Mark J. Daly, Philippe Frossard, John Danesh, Daniel J. Rader, Sekar Kathiresan

Nature. Author manuscript; available in PMC 2017 Oct 12.

Published in final edited form as: Nature. 2017 Apr 12; 544(7649): 235–239. doi: 10.1038/nature22034

PMCID:: PMC5600291

Abstract Article PDF–1.4M

Select item 543591918.

Substrate preference of Gen endonucleases highlights the importance of branched structures as DNA damage repair intermediates

Stephanie P. Bellendir, Danielle J. Rognstad, Lydia P. Morris, Grzegorz Zapotoczny, William G. Walton, Matthew R. Redinbo, Dale A. Ramsden, Jeff Sekelsky, Dorothy A. Erie

Nucleic Acids Res. 2017 May 19; 45(9): 5333–5348. Published online 2017 Mar 28. doi: 10.1093/nar/gkx214

PMCID:: PMC5435919

Abstract Article PDF–4.7M

Select item 534955019.

SLX4 Prevents GEN1-Dependent DSBs During DNA Replication Arrest Under Pathological Conditions in Human Cells

Eva Malacaria, Annapaola Franchitto, Pietro Pichierri

Sci Rep. 2017; 7: 44464. Published online 2017 Mar 14. doi: 10.1038/srep44464

PMCID:: PMC5349550

Abstract Article PDF–1.8M

Select item 525561020.

Resolution of single and double Holliday junction recombination intermediates by GEN1

Rajvee Shah Punatar, Maria Jose Martin, Haley D. M. Wyatt, Ying Wai Chan, Stephen C. West

Proc Natl Acad Sci U S A. 2017 Jan 17; 114(3): 443–450. Published online 2017 Jan 3. doi: 10.1073/pnas.1619790114

PMCID:: PMC5255610

Abstract Article PDF–1.4M

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