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Select item 62058851.

Cystic kidneys in fetal Walker-Warburg Syndrome with POMT2 mutation: Intrafamilial phenotypic variability in four siblings and review of literature

Marwa M. Nabhan, Nour ElKhateeb, Daniela A. Braun, Sungho Eun, Sahar N. Saleem, Heon Yung Gee, Friedhelm Hildebrandt, Neveen A. Soliman

Am J Med Genet A. Author manuscript; available in PMC 2018 Oct 30.

Published in final edited form as: Am J Med Genet A. 2017 Oct; 173(10): 2697–2702. Published online 2017 Aug 17. doi: 10.1002/ajmg.a.38393

PMCID:: PMC6205885

Article PDF–533K

Select item 39538962.

Novel cardiovascular findings in association with a POMT2 mutation: three siblings with α-dystroglycanopathy

Hugo R Martinez, William J Craigen, Monika Ummat, Adekunle M Adesina, Timothy E Lotze, John L Jefferies

Eur J Hum Genet. 2014 Apr; 22(4): 486–491. Published online 2013 Sep 4. doi: 10.1038/ejhg.2013.165

PMCID:: PMC3953896

Article PDF–1.0M

Select item 27025323.

A novel POMT2 mutation causes mild congenital muscular dystrophy with normal brain MRI

Terumi MURAKAMI, Yukiko K. HAYASHI, Megumu OGAWA, Satoru NOGUCHI, Kevin P. CAMPBELL, Masami TOGAWA, Takehiko INOUE, Akira OKA, Kousaku OHNO, Ikuya NONAKA, Ichizo NISHINO

Brain Dev. Author manuscript; available in PMC 2009 Dec 1.

Published in final edited form as: Brain Dev. 2009 Jun; 31(6): 465–468. Published online 2008 Sep 19. doi: 10.1016/j.braindev.2008.08.005

PMCID:: PMC2702532

Article PDF–1.3M

Select item 109299724.

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

Article PDF–798K

Select item 17359675.

POMT2 mutations cause α-dystroglycan hypoglycosylation and Walker-Warburg syndrome

J van Reeuwijk, M Janssen, C van den Elzen, d Beltran-Valero, P Sabatelli, L Merlini, M Boon, H Scheffer, M Brockington, F Muntoni, M Huynen, A Verrips, C Walsh, P Barth, H Brunner, H van Bokhoven

J Med Genet. 2005 Dec; 42(12): 907–912. Published online 2005 May 13. doi: 10.1136/jmg.2005.031963

PMCID:: PMC1735967

Summary PDF–364K

Select item 15534316.

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

Article PDF–260K

Select item 3271767.

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

Article PDF–389K

Select item 55008198.

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

Article PDF–1.7M

Select item 73924919.

TGFβ attenuates cartilage extracellular matrix degradation via enhancing FBXO6-mediated MMP14 ubiquitination

Gangliang Wang, Shuai Chen, Ziang Xie, Shuying Shen, Wenbin Xu, Wenxiang Chen, Xiang Li, Yizheng Wu, Liangping Li, Bin Liu, Xianjun Ding, An Qin, Shunwu Fan

Ann Rheum Dis. 2020 Aug; 79(8): 1111–1120. Published online 2020 May 14. doi: 10.1136/annrheumdis-2019-216911

PMCID:: PMC7392491

Article PDF–14M

Select item 646186410.

LncRNAs-directed PTEN enzymatic switch governs epithelial–mesenchymal transition

Qingsong Hu, Chunlai Li, Shouyu Wang, Yajuan Li, Bo Wen, Yanyan Zhang, Ke Liang, Jun Yao, Youqiong Ye, Heidi Hsiao, Tina K. Nguyen, Peter K. Park, Sergey D. Egranov, David H. Hawke, Jeffrey R. Marks, Leng Han, Mien-Chie Hung, Bing Zhang, Chunru Lin, Liuqing Yang

Cell Res. 2019 Apr; 29(4): 286–304. Published online 2019 Jan 10. doi: 10.1038/s41422-018-0134-3

PMCID:: PMC6461864

Article PDF–11M

Select item 563060011.

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

Article PDF–2.3M

Select item 599939612.

The HIV-1 Tat protein recruits a ubiquitin ligase to reorganize the 7SK snRNP for transcriptional activation

Tyler B Faust, Yang Li, Curtis W Bacon, Gwendolyn M Jang, Amit Weiss, Bhargavi Jayaraman, Billy W Newton, Nevan J Krogan, Iván D'Orso, Alan D Frankel

eLife. 2018; 7: e31879. Published online 2018 May 30. doi: 10.7554/eLife.31879

PMCID:: PMC5999396

Article PDF–3.6M

Select item 923162313.

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

Article PDF–6.0M

Select item 732206714.

RIG-I regulates myeloid differentiation by promoting TRIM25-mediated ISGylation

Song-Fang Wu, Li Xia, Xiao-Dong Shi, Yu-Jun Dai, Wei-Na Zhang, Jun-Mei Zhao, Wu Zhang, Xiang-Qin Weng, Jing Lu, Huang-Ying Le, Sheng-ce Tao, Jiang Zhu, Zhu Chen, Yue-Ying Wang, Saijuan Chen

Proc Natl Acad Sci U S A. 2020 Jun 23; 117(25): 14395–14404. Published online 2020 Jun 8. doi: 10.1073/pnas.1918596117

PMCID:: PMC7322067

Article PDF–2.7M

Select item 659455115.

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

Article PDF–1.4M

Select item 911973616.

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

Article PDF–3.3M

Select item 135612917.

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

Article PDF–438K

Select item 461721118.

The BioPlex Network: A Systematic Exploration of the Human Interactome

Edward L. Huttlin, Lily Ting, Raphael J. Bruckner, Fana Gebreab, Melanie P. Gygi, John Szpyt, Stanley Tam, Gabriela Zarraga, Greg Colby, Kurt Baltier, Rui Dong, Virginia Guarani, Laura Pontano Vaites, Alban Ordureau, Ramin Rad, Brian K. Erickson, Martin Wühr, Joel Chick, Bo Zhai, Deepak Kolippakkam, Julian Mintseris, Robert A. Obar, Tim Harris, Spyros Artavanis-Tsakonas, Mathew E. Sowa, Pietro DeCamilli, Joao A. Paulo, J. Wade Harper, Steven P. Gygi

Cell. Author manuscript; available in PMC 2016 Jul 16.

Published in final edited form as: Cell. 2015 Jul 16; 162(2): 425–440. doi: 10.1016/j.cell.2015.06.043

PMCID:: PMC4617211

Article PDF–2.2M

Select item 553161119.

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

Article PDF–2.7M

Select item 816503020.

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

Article PDF–2.2M

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