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1.
Overexpression of hCLP46 enhances Notch activation and regulates cell proliferation in a cell type‐dependent manner
Q. Chu, L. Liu, W. Wang
Cell Prolif. 2013 Jun; 46(3): 254–262. Published online 2013 May 22. doi: 10.1111/cpr.12037
PMCID:
PMC6495447
ArticlePDF–810K
2.
POGLUT1, the putative effector gene driven by rs2293370 in primary biliary cholangitis susceptibility locus chromosome 3q13.33
Yuki Hitomi, Kazuko Ueno, Yosuke Kawai, Nao Nishida, Kaname Kojima, Minae Kawashima, Yoshihiro Aiba, Hitomi Nakamura, Hiroshi Kouno, Hirotaka Kouno, Hajime Ohta, Kazuhiro Sugi, Toshiki Nikami, Tsutomu Yamashita, Shinji Katsushima, Toshiki Komeda, Keisuke Ario, Atsushi Naganuma, Masaaki Shimada, Noboru Hirashima, Kaname Yoshizawa, Fujio Makita, Kiyoshi Furuta, Masahiro Kikuchi, Noriaki Naeshiro, Hironao Takahashi, Yutaka Mano, Haruhiro Yamashita, Kouki Matsushita, Seiji Tsunematsu, Iwao Yabuuchi, Hideo Nishimura, Yusuke Shimada, Kazuhiko Yamauchi, Tatsuji Komatsu, Rie Sugimoto, Hironori Sakai, Eiji Mita, Masaharu Koda, Yoko Nakamura, Hiroshi Kamitsukasa, Takeaki Sato, Makoto Nakamuta, Naohiko Masaki, Hajime Takikawa, Atsushi Tanaka, Hiromasa Ohira, Mikio Zeniya, Masanori Abe, Shuichi Kaneko, Masao Honda, Kuniaki Arai, Teruko Arinaga-Hino, Etsuko Hashimoto, Makiko Taniai, Takeji Umemura, Satoru Joshita, Kazuhiko Nakao, Tatsuki Ichikawa, Hidetaka Shibata, Akinobu Takaki, Satoshi Yamagiwa, Masataka Seike, Shotaro Sakisaka, Yasuaki Takeyama, Masaru Harada, Michio Senju, Osamu Yokosuka, Tatsuo Kanda, Yoshiyuki Ueno, Hirotoshi Ebinuma, Takashi Himoto, Kazumoto Murata, Shinji Shimoda, Shinya Nagaoka, Seigo Abiru, Atsumasa Komori, Kiyoshi Migita, Masahiro Ito, Hiroshi Yatsuhashi, Yoshihiko Maehara, Shinji Uemoto, Norihiro Kokudo, Masao Nagasaki, Katsushi Tokunaga, Minoru Nakamura
Sci Rep. 2019; 9: 102. Published online 2019 Jan 14. doi: 10.1038/s41598-018-36490-1
PMCID:
PMC6331557
ArticlePDF–1.6M
3.
RUMI is a novel negative prognostic marker and therapeutic target in Non-Small Cell Lung Cancer
May Chammaa, Agnes Malysa, Carlos Redondo, Hyejeong Jang, Wei Chen, Gerold Bepler, Rodrigo Fernandez-Valdivia
J Cell Physiol. Author manuscript; available in PMC 2019 Dec 1.
Published in final edited form as: J Cell Physiol. 2018 Dec; 233(12): 9548–9562. Published online 2018 Jun 28. doi: 10.1002/jcp.26858
PMCID:
PMC6185790
ArticlePDF–1.3M
4.
Generation of an induced pluripotent stem cell line (CSCRMi001-A) from a patient with a new type of limb-girdle muscular dystrophy (LGMD) due to a missense mutation in POGLUT1 (Rumi)
Jianbo Wu, Samuel D. Hunt, Nadine Matthias, Emilia Servián-Morilla, Jonathan Lo, Hamed Jafar-Nejad, Carmen Paradas, Radbod Darabi
Stem Cell Res. Author manuscript; available in PMC 2018 Oct 1.
Published in final edited form as: Stem Cell Res. 2017 Oct; 24: 102–105. Published online 2017 Sep 1. doi: 10.1016/j.scr.2017.08.020
PMCID:
PMC5679726
ArticlePDF–560K
5.
Mutations in POGLUT1 in Galli–Galli/Dowling–Degos disease
N.J. Wilson, C. Cole, K. Kroboth, W.N. Hunter, J.A. Mann, W.H.I. McLean, K. Kernland Lang, H. Beltraminelli, R.A. Sabroe, N. Tiffin, G.J. Sobey, L. Borradori, E. Simpson, F.J.D. Smith
Br J Dermatol. 2017 Jan; 176(1): 270–274. Published online 2016 Sep 24. doi: 10.1111/bjd.14914
PMCID:
PMC5324688
ArticlePDF–969K
6.
Mutations in POGLUT1, Encoding Protein O-Glucosyltransferase 1, Cause Autosomal-Dominant Dowling-Degos Disease
F. Buket Basmanav, Ana-Maria Oprisoreanu, Sandra M. Pasternack, Holger Thiele, Günter Fritz, Jörg Wenzel, Leopold Größer, Maria Wehner, Sabrina Wolf, Christina Fagerberg, Anette Bygum, Janine Altmüller, Arno Rütten, Laurent Parmentier, Laila El Shabrawi-Caelen, Christian Hafner, Peter Nürnberg, Roland Kruse, Susanne Schoch, Sandra Hanneken, Regina C. Betz
Am J Hum Genet. 2014 Jan 2; 94(1): 135–143. doi: 10.1016/j.ajhg.2013.12.003
PMCID:
PMC3882728
ArticlePDF–1.8M
7.
POGLUT1 biallelic mutations cause a myopathy with reduced satellite cells, α-dystroglycan hypoglycosylation and a distinctive radiological pattern
E. Servián-Morilla, M. Cabrera-Serrano, K. Johnson, A. Pandey, A. Ito, E. Rivas, T. Chamova, N. Muelas, T. Mongini, S. Nafissi, K.G. Claeys, R.P. Grewal, M. Takeuchi, H. Hao, C. Bönnemann, O.A. Neto, L. Medne, J. Brandsema, A. Topf, A. Taneva, J.J. Vilchez, I. Tournev, R.S. Haltiwanger, H. Takeuchi, H. Jafar-Nejad, V. Straub, C. Paradas
Acta Neuropathol. Author manuscript; available in PMC 2021 Mar 1.
Published in final edited form as: Acta Neuropathol. 2020 Mar; 139(3): 565–582. Published online 2020 Jan 3. doi: 10.1007/s00401-019-02117-6
PMCID:
PMC7196238
ArticlePDF–2.4M
8.
hCLP46 increases Smad3 protein stability via inhibiting its ubiquitin-proteasomal degradation
Yingying Xing, Qiaoyun Chu, Run Feng, Wei Wang, Lixin Liu, Zhongbing Lu
Protein Cell. 2015 Oct; 6(10): 767–770. Published online 2015 Jun 10. doi: 10.1007/s13238-015-0174-0
Correction in:
Protein Cell. 2015 Dec; 6(12): 929.
PMCID:
PMC4598319
ArticlePDF–652K
9.
A POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss
Emilia Servián‐Morilla, Hideyuki Takeuchi, Tom V Lee, Jordi Clarimon, Fabiola Mavillard, Estela Area‐Gómez, Eloy Rivas, Jose L Nieto‐González, Maria C Rivero, Macarena Cabrera‐Serrano, Leonardo Gómez‐Sánchez, Jose A Martínez‐López, Beatriz Estrada, Celedonio Márquez, Yolanda Morgado, Xavier Suárez‐Calvet, Guillermo Pita, Anne Bigot, Eduard Gallardo, Rafael Fernández‐Chacón, Michio Hirano, Robert S Haltiwanger, Hamed Jafar‐Nejad, Carmen Paradas
EMBO Mol Med. 2016 Nov; 8(11): 1289–1309. Published online 2016 Oct 10. doi: 10.15252/emmm.201505815
PMCID:
PMC5090660
ArticlePDF–4.8M
10.
Two novel protein O-glucosyltransferases that modify sites distinct from POGLUT1 and affect Notch trafficking and signaling
Hideyuki Takeuchi, Michael Schneider, Daniel B. Williamson, Atsuko Ito, Megumi Takeuchi, Penny A. Handford, Robert S. Haltiwanger
Proc Natl Acad Sci U S A. 2018 Sep 4; 115(36): E8395–E8402. Published online 2018 Aug 20. doi: 10.1073/pnas.1804005115
PMCID:
PMC6130362
ArticlePDF–1.5M
11.
Rumi functions as both a protein O-glucosyltransferase and a protein O-xylosyltransferase
Hideyuki Takeuchi, Rodrigo C. Fernández-Valdivia, Devin S. Caswell, Aleksandra Nita-Lazar, Nadia A. Rana, Thomas P. Garner, Thomas K. Weldeghiorghis, Megan A. Macnaughtan, Hamed Jafar-Nejad, Robert S. Haltiwanger
Proc Natl Acad Sci U S A. 2011 Oct 4; 108(40): 16600-16605. Published online 2011 Sep 26. doi: 10.1073/pnas.1109696108
PMCID:
PMC3189016
ArticlePDF–962K
12.
Multiple common variants for celiac disease influencing immune gene expression
Patrick CA Dubois, Gosia Trynka, Lude Franke, Karen A Hunt, Jihane Romanos, Alessandra Curtotti, Alexandra Zhernakova, Graham AR Heap, Róza Ádány, Arpo Aromaa, Maria Teresa Bardella, Leonard H van den Berg, Nicholas A Bockett, Emilio G. de la Concha, Bárbara Dema, Rudolf SN Fehrmann, Miguel Fernández-Arquero, Szilvia Fiatal, Elvira Grandone, Peter M Green, Harry JM Groen, Rhian Gwilliam, Roderick HJ Houwen, Sarah E Hunt, Katri Kaukinen, Dermot Kelleher, Ilma Korponay-Szabo, Kalle Kurppa, Padraic MacMathuna, Markku Mäki, Maria Cristina Mazzilli, Owen T McCann, M Luisa Mearin, Charles A Mein, Muddassar M Mirza, Vanisha Mistry, Barbara Mora, Katherine I Morley, Chris J Mulder, Joseph A Murray, Concepción Núñez, Elvira Oosterom, Roel A Ophoff, Isabel Polanco, Leena Peltonen, Mathieu Platteel, Anna Rybak, Veikko Salomaa, Joachim J Schweizer, Maria Pia Sperandeo, Greetje J Tack, Graham Turner, Jan H Veldink, Wieke HM Verbeek, Rinse K Weersma, Victorien M Wolters, Elena Urcelay, Bozena Cukrowska, Luigi Greco, Susan L. Neuhausen, Ross McManus, Donatella Barisani, Panos Deloukas, Jeffrey C Barrett, Paivi Saavalainen, Cisca Wijmenga, David A van Heel
Nat Genet. Author manuscript; available in PMC 2010 Oct 1.
Published in final edited form as: Nat Genet. 2010 Apr; 42(4): 295–302. Published online 2010 Feb 28. doi: 10.1038/ng.543
Correction in:
volume 42 on page 465
PMCID:
PMC2847618
ArticlePDF–1.0M
13.
Spindle assembly checkpoint inhibition can resensitize p53-null stem cells to cancer chemotherapy
Changlong Liu, Carolyn E. Banister, Phillip J. Buckhaults
Cancer Res. Author manuscript; available in PMC 2020 May 1.
Published in final edited form as: Cancer Res. 2019 May 1; 79(9): 2392–2403. Published online 2019 Mar 12. doi: 10.1158/0008-5472.CAN-18-3024
PMCID:
PMC6497569
ArticlePDF–2.2M
14.
Interactome and proteome dynamics uncover immune modulatory associations of the pathogen sensing factor cGAS
Krystal K. Lum, Bokai Song, Joel D. Federspiel, Benjamin A. Diner, Timothy Howard, Ileana M. Cristea
Cell Syst. Author manuscript; available in PMC 2019 Dec 26.
Published in final edited form as: Cell Syst. 2018 Dec 26; 7(6): 627–642.e6. Published online 2018 Nov 21. doi: 10.1016/j.cels.2018.10.010
PMCID:
PMC6310102
ArticlePDF–3.5M
15.
The Secreted Protein Discovery Initiative (SPDI), a Large-Scale Effort to Identify Novel Human Secreted and Transmembrane Proteins: A Bioinformatics Assessment
Hilary F. Clark, Austin L. Gurney, Evangeline Abaya, Kevin Baker, Daryl Baldwin, Jennifer Brush, Jian Chen, Bernard Chow, Clarissa Chui, Craig Crowley, Bridget Currell, Bethanne Deuel, Patrick Dowd, Dan Eaton, Jessica Foster, Christopher Grimaldi, Qimin Gu, Philip E. Hass, Sherry Heldens, Arthur Huang, Hok Seon Kim, Laura Klimowski, Yisheng Jin, Stephanie Johnson, James Lee, Lhney Lewis, Dongzhou Liao, Melanie Mark, Edward Robbie, Celina Sanchez, Jill Schoenfeld, Somasekar Seshagiri, Laura Simmons, Jennifer Singh, Victoria Smith, Jeremy Stinson, Alicia Vagts, Richard Vandlen, Colin Watanabe, David Wieand, Kathryn Woods, Ming-Hong Xie, Daniel Yansura, Sothy Yi, Guoying Yu, Jean Yuan, Min Zhang, Zemin Zhang, Audrey Goddard, William I. Wood, Paul Godowski
Genome Res. 2003 Oct; 13(10): 2265–2270. doi: 10.1101/gr.1293003
Correction in:
Genome Res. 2003 Dec; 13(12): 2759.
PMCID:
PMC403697
ArticlePDF–120K
16.
The proximal proteome of 17 SARS-CoV-2 proteins links to disrupted antiviral signaling and host translation
Jordan M. Meyers, Muthukumar Ramanathan, Ronald L. Shanderson, Aimee Beck, Laura Donohue, Ian Ferguson, Margaret G. Guo, Deepti S. Rao, Weili Miao, David Reynolds, Xue Yang, Yang Zhao, Yen-Yu Yang, Catherine Blish, Yinsheng Wang, Paul A. Khavari
PLoS Pathog. 2021 Oct; 17(10): e1009412. Published online 2021 Oct 1. doi: 10.1371/journal.ppat.1009412
PMCID:
PMC8513853
ArticlePDF–4.1M
17.
ESCPE-1 mediates retrograde endosomal sorting of the SARS-CoV-2 host factor Neuropilin-1
Boris Simonetti, James L. Daly, Lorena Simón-Gracia, Katja Klein, Saroja Weeratunga, Carlos Antón-Plágaro, Allan Tobi, Lorna Hodgson, Philip A. Lewis, Kate J. Heesom, Deborah K. Shoemark, Andrew D. Davidson, Brett M. Collins, Tambet Teesalu, Yohei Yamauchi, Peter J. Cullen
Proc Natl Acad Sci U S A. 2022 Jun 21; 119(25): e2201980119. Published online 2022 Jun 13. doi: 10.1073/pnas.2201980119
PMCID:
PMC9231623
ArticlePDF–6.0M
18.
Sequence Comparison of Human and Mouse Genes Reveals a Homologous Block Structure in the Promoter Regions
Yutaka Suzuki, Riu Yamashita, Matsuyuki Shirota, Yuta Sakakibara, Joe Chiba, Junko Mizushima-Sugano, Kenta Nakai, Sumio Sugano
Genome Res. 2004 Sep; 14(9): 1711–1718. doi: 10.1101/gr.2435604
PMCID:
PMC515316
ArticlePDF–181K
19.
Genome-wide CRISPR screen identifies HNRNPL as a prostate cancer dependency regulating RNA splicing
Teng Fei, Yiwen Chen, Tengfei Xiao, Wei Li, Laura Cato, Peng Zhang, Maura B. Cotter, Michaela Bowden, Rosina T. Lis, Shuang G. Zhao, Qiu Wu, Felix Y. Feng, Massimo Loda, Housheng Hansen He, X. Shirley Liu, Myles Brown
Proc Natl Acad Sci U S A. 2017 Jun 27; 114(26): E5207–E5215. Published online 2017 Jun 13. doi: 10.1073/pnas.1617467114
PMCID:
PMC5495225
ArticlePDF–1.3M
20.
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
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