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Items: 1 to 20 of 28

1.
Enhanced influenza A H1N1 T cell epitope recognition and cross-reactivity to protein-O-mannosyltransferase 1 in Pandemrix-associated narcolepsy type 1
A. Vuorela, T. L. Freitag, K. Leskinen, H. Pessa, T. Härkönen, I. Stracenski, T. Kirjavainen, P. Olsen, O. Saarenpää-Heikkilä, J. Ilonen, M. Knip, A. Vaheri, M. Partinen, P. Saavalainen, S. Meri, O. Vaarala
Nat Commun. 2021; 12: 2283. Published online 2021 Apr 16. doi: 10.1038/s41467-021-22637-8
PMCID:
PMC8052463
AbstractArticlePDF–3.0M
2.
Compound heterozygous POMT1 mutations in a Chinese family with autosomal recessive muscular dystrophy‐dystroglycanopathy C1
Pengzhi Hu, Song Wu, Lamei Yuan, Qiongfen Lin, Wen Zheng, Hong Xia, Hongbo Xu, Liping Guan, Hao Deng
J Cell Mol Med. 2017 Jul; 21(7): 1388–1393. Published online 2017 Feb 3. doi: 10.1111/jcmm.13068
PMCID:
PMC5487925
AbstractArticlePDF–217K
3.
A Novel Missense Mutation in POMT1 Modulates the Severe Congenital Muscular Dystrophy Phenotype Associated with POMT1 Nonsense Mutations
Stephanie E. Wallace, Jessie H. Conta, Thomas L. Winder, Tobias Willer, Jamie M. Eskuri, Richard Haas, Kathleen Patterson, Kevin P. Campbell, Steven A. Moore, Sidney M. Gospe, Jr.
Neuromuscul Disord. Author manuscript; available in PMC 2015 Apr 1.
Published in final edited form as: Neuromuscul Disord. 2014 Apr; 24(4): 312–320. Published online 2014 Jan 11. doi: 10.1016/j.nmd.2014.01.001
PMCID:
PMC3959257
AbstractArticlePDF–2.1M
4.
POMT1和POMT2基因突变导致的2例α-抗肌萎缩相关糖蛋白病
甘 思仪, 杨 海燕, 肖 婷, 潘 邹, 吴 丽文
Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2021 Aug 28; 46(8): 915–919. Chinese. doi: 10.11817/j.issn.1672-7347.2021.200067
PMCID:
PMC10929972
AbstractArticlePDF–798K
5.
Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy
Luca Bello, Paola Melacini, Raffaele Pezzani, Adele D'Amico, Luisa Piva, Emanuela Leonardi, Annalaura Torella, Gianni Soraru, Arianna Palmieri, Gessica Smaniotto, Bruno F Gavassini, Andrea Vianello, Vincenzo Nigro, Enrico Bertini, Corrado Angelini, Silvio C E Tosatto, Elena Pegoraro
Eur J Hum Genet. 2012 Dec; 20(12): 1234–1239. Published online 2012 May 2. doi: 10.1038/ejhg.2012.71
PMCID:
PMC3499746
AbstractArticlePDF–1.1M
6.
Walker-Warburg syndrome
Jiri Vajsar, Harry Schachter
Orphanet J Rare Dis. 2006; 1: 29. Published online 2006 Aug 3. doi: 10.1186/1750-1172-1-29
PMCID:
PMC1553431
AbstractArticlePDF–260K
7.
Mutations in the O-Mannosyltransferase Gene POMT1 Give Rise to the Severe Neuronal Migration Disorder Walker-Warburg Syndrome
Daniel Beltrán-Valero de Bernabé, Sophie Currier, Alice Steinbrecher, Jacopo Celli, Ellen van Beusekom, Bert van der Zwaag, Hülya Kayserili, Luciano Merlini, David Chitayat, William B. Dobyns, Bru Cormand, Ana-Elina Lehesjoki, Jesús Cruces, Thomas Voit, Christopher A. Walsh, Hans van Bokhoven, Han G. Brunner
Am J Hum Genet. 2002 Nov; 71(5): 1033–1043. Published online 2002 Oct 4. doi: 10.1086/342975
PMCID:
PMC419999
AbstractArticlePDF–1.1M
8.
Demonstration of mammalian protein O-mannosyltransferase activity: Coexpression of POMT1 and POMT2 required for enzymatic activity
Hiroshi Manya, Atsuro Chiba, Aruto Yoshida, Xiaohui Wang, Yasunori Chiba, Yoshifumi Jigami, Richard U. Margolis, Tamao Endo
Proc Natl Acad Sci U S A. 2004 Jan 13; 101(2): 500–505. Published online 2003 Dec 29. doi: 10.1073/pnas.0307228101
PMCID:
PMC327176
AbstractArticlePDF–389K
9.
Mammalian O-mannosylation of cadherins and plexins is independent of protein O-mannosyltransferases 1 and 2
Ida Signe Bohse Larsen, Yoshiki Narimatsu, Hiren Jitendra Joshi, Zhang Yang, Oliver J. Harrison, Julia Brasch, Lawrence Shapiro, Barry Honig, Sergey Y. Vakhrushev, Henrik Clausen, Adnan Halim
J Biol Chem. 2017 Jul 7; 292(27): 11586–11598. Published online 2017 May 16. doi: 10.1074/jbc.M117.794487
PMCID:
PMC5500819
AbstractArticlePDF–1.7M
10.
Functional Similarities between the Protein O-Mannosyltransferases Pmt4 from Bakers' Yeast and Human POMT1
Daniela Bausewein, Jakob Engel, Thomas Jank, Maria Schoedl, Sabine Strahl
J Biol Chem. 2016 Aug 19; 291(34): 18006–18015. Published online 2016 Jun 29. doi: 10.1074/jbc.M116.739128
PMCID:
PMC5016187
AbstractArticlePDF–1.1M
11.
Comparative Host Interactomes of the SARS-CoV-2 Nonstructural Protein 3 and Human Coronavirus Homologs
Katherine M. Almasy, Jonathan P. Davies, Lars Plate
Mol Cell Proteomics. 2021; 20: 100120. Published online 2021 Jun 27. doi: 10.1016/j.mcpro.2021.100120
PMCID:
PMC8236078
AbstractArticlePDF–4.6M
12.
Maternal Genes and Facial Clefts in Offspring: A Comprehensive Search for Genetic Associations in Two Population-Based Cleft Studies from Scandinavia
Astanand Jugessur, Min Shi, Håkon Kristian Gjessing, Rolv Terje Lie, Allen James Wilcox, Clarice Ring Weinberg, Kaare Christensen, Abee Lowman Boyles, Sandra Daack-Hirsch, Truc Trung Nguyen, Lene Christiansen, Andrew Carl Lidral, Jeffrey Clark Murray
PLoS One. 2010; 5(7): e11493. Published online 2010 Jul 9. doi: 10.1371/journal.pone.0011493
PMCID:
PMC2901336
AbstractArticlePDF–778K
13.
A BioID-Derived Proximity Interactome for SARS-CoV-2 Proteins
Danielle G. May, Laura Martin-Sancho, Valesca Anschau, Sophie Liu, Rachel J. Chrisopulos, Kelsey L. Scott, Charles T. Halfmann, Ramon Díaz Peña, Dexter Pratt, Alexandre R. Campos, Kyle J. Roux
Viruses. 2022 Mar; 14(3): 611. Published online 2022 Mar 15. doi: 10.3390/v14030611
PMCID:
PMC8951556
AbstractArticlePDF–4.4M
14.
Mammalian APE1 controls miRNA processing and its interactome is linked to cancer RNA metabolism
Giulia Antoniali, Fabrizio Serra, Lisa Lirussi, Mikiei Tanaka, Chiara D’Ambrosio, Shiheng Zhang, Slobodanka Radovic, Emiliano Dalla, Yari Ciani, Andrea Scaloni, Mengxia Li, Silvano Piazza, Gianluca Tell
Nat Commun. 2017; 8: 797. Published online 2017 Oct 6. doi: 10.1038/s41467-017-00842-8
PMCID:
PMC5630600
AbstractArticlePDF–2.3M
15.
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
AbstractArticlePDF–1.6M
16.
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
AbstractArticlePDF–6.0M
17.
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
AbstractArticlePDF–181K
18.
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
AbstractArticlePDF–1.3M
19.
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
AbstractArticlePDF–1.4M
20.
OpenCell: proteome-scale endogenous tagging enables the cartography of human cellular organization
Nathan H. Cho, Keith C. Cheveralls, Andreas-David Brunner, Kibeom Kim, André C. Michaelis, Preethi Raghavan, Hirofumi Kobayashi, Laura Savy, Jason Y. Li, Hera Canaj, James Y.S. Kim, Edna M. Stewart, Christian Gnann, Frank McCarthy, Joana P. Cabrera, Rachel M. Brunetti, Bryant B. Chhun, Greg Dingle, Marco Y. Hein, Bo Huang, Shalin B. Mehta, Jonathan S. Weissman, Rafael Gómez-Sjöberg, Daniel N. Itzhak, Loic A. Royer, Matthias Mann, Manuel D. Leonetti
Science. Author manuscript; available in PMC 2022 Sep 11.
Published in final edited form as: Science. 2022 Mar 11; 375(6585): eabi6983. Published online 2022 Mar 11. doi: 10.1126/science.abi6983
PMCID:
PMC9119736
AbstractArticlePDF–3.3M

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