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Select item 92868401.

Prenatal diagnosis of Walker–Warburg syndrome due to compound mutations in the B3GALNT2 gene

Peng Wang, Pengzhen Jin, Linyan Zhu, Min Chen, Yeqing Qian, Wenshan Zeng, Miaomiao Wang, Yuqing Xu, Yanfei Xu, Minyue Dong

J Gene Med. 2022 May; 24(5): e3417. Published online 2022 Apr 6. doi: 10.1002/jgm.3417

PMCID:: PMC9286840

Article PDF–10M

Select item 82133262.

Novel mutations in B3GALNT2 gene causing α-dystroglycanopathy in Chinese patients

Xiao-Yu Chen, Dan-Yu Song, Yan-Bin Fan, Dan-Dan Tan, Xing-Zhi Chang, Jiang-Xi Xiao, Tatsushi Toda, Hui Xiong

Chin Med J (Engl) 2021 Jun 20; 134(12): 1483–1485. Published online 2020 Dec 7. doi: 10.1097/CM9.0000000000001283

PMCID:: PMC8213326

Article PDF–418K

Select item 65095043.

Identification of mammalian glycoproteins with type-I LacdiNAc structures synthesized by the glycosyltransferase B3GALNT2

Takahiro Nakane, Kiyohiko Angata, Takashi Sato, Hiroyuki Kaji, Hisashi Narimatsu

J Biol Chem. 2019 May 3; 294(18): 7433–7444. Published online 2019 Mar 21. doi: 10.1074/jbc.RA118.006892

PMCID:: PMC6509504

Article PDF–2.3M

Select item 58854664.

Increased B3GALNT2 in hepatocellular carcinoma promotes macrophage recruitment via reducing acetoacetate secretion and elevating MIF activity

Tianxiao Yang, Yilin Wang, Wenjuan Dai, Xixi Zheng, Jing Wang, Shushu Song, Lan Fang, Jiangfan Zhou, Weicheng Wu, Jianxin Gu

J Hematol Oncol. 2018; 11: 50. Published online 2018 Apr 4. doi: 10.1186/s13045-018-0595-3

PMCID:: PMC5885466

Article PDF–7.2M

Select item 57405725.

B3GALNT2 mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype–phenotype associations in the muscular dystrophy-dystroglycanopathies

Reza Maroofian, Moniek Riemersma, Lucas T. Jae, Narges Zhianabed, Marjolein H. Willemsen, Willemijn M. Wissink-Lindhout, Michèl A. Willemsen, Arjan P. M. de Brouwer, Mohammad Yahya Vahidi Mehrjardi, Mahmoud Reza Ashrafi, Benno Kusters, Tjitske Kleefstra, Yalda Jamshidi, Mojila Nasseri, Rolph Pfundt, Thijn R. Brummelkamp, Mohammad Reza Abbaszadegan, Dirk J. Lefeber, Hans van Bokhoven

Genome Med. 2017; 9: 118. Published online 2017 Dec 22. doi: 10.1186/s13073-017-0505-2

PMCID:: PMC5740572

Article PDF–1.8M

Select item 39925796.

B3GALNT2 is a gene associated with congenital muscular dystrophy with brain malformations

Carola Hedberg, Anders Oldfors, Niklas Darin

Eur J Hum Genet. 2014 May; 22(5): 707–710. Published online 2013 Oct 2. doi: 10.1038/ejhg.2013.223

PMCID:: PMC3992579

Article PDF–907K

Select item 35918407.

Mutations in B3GALNT2 Cause Congenital Muscular Dystrophy and Hypoglycosylation of α-Dystroglycan

Elizabeth Stevens, Keren J. Carss, Sebahattin Cirak, A. Reghan Foley, Silvia Torelli, Tobias Willer, Dimira E. Tambunan, Shu Yau, Lina Brodd, Caroline A. Sewry, Lucy Feng, Goknur Haliloglu, Diclehan Orhan, William B. Dobyns, Gregory M. Enns, Melanie Manning, Amanda Krause, Mustafa A. Salih, Christopher A. Walsh, Matthew Hurles, Kevin P. Campbell, M. Chiara Manzini, UK10K Consortium, Derek Stemple, Yung-Yao Lin, Francesco Muntoni

Am J Hum Genet. 2013 Mar 7; 92(3): 354–365. doi: 10.1016/j.ajhg.2013.01.016

PMCID:: PMC3591840

Article PDF–1.1M

Select item 38480408.

SGK196 Is a Glycosylation-Specific O-Mannose Kinase Required for Dystroglycan Function

Takako Yoshida-Moriguchi, Tobias Willer, Mary E. Anderson, David Venzke, Tamieka Whyte, Francesco Muntoni, Hane Lee, Stanley F Nelson, Liping Yu, Kevin P. Campbell

Science. Author manuscript; available in PMC 2013 Dec 3.

Published in final edited form as: Science. 2013 Aug 23; 341(6148): 10.1126/science.1239951. Published online 2013 Aug 8. doi: 10.1126/science.1239951

PMCID:: PMC3848040

Article PDF–2.1M

Select item 46496589.

Dependence of Human Colorectal Cells Lacking the FBW7 Tumor Suppressor on the Spindle Assembly Checkpoint

Melanie L. Bailey, Tejomayee Singh, Patricia Mero, Jason Moffat, Philip Hieter

Genetics. 2015 Nov; 201(3): 885–895. Published online 2015 Sep 8. doi: 10.1534/genetics.115.180653

PMCID:: PMC4649658

Article PDF–1.8M

Select item 739249110.

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 886447211.

Interactome Analysis of Human Phospholipase D and Phosphatidic Acid-Associated Protein Network

Rebecca Elizabeth Kattan, Han Han, Gayoung Seo, Bing Yang, Yongqi Lin, Max Dotson, Stephanie Pham, Yahya Menely, Wenqi Wang

Mol Cell Proteomics. 2022 Feb; 21(2): 100195. Published online 2022 Jan 8. doi: 10.1016/j.mcpro.2022.100195

PMCID:: PMC8864472

Article PDF–3.6M

Select item 923162312.

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 882889513.

Human transcription factor protein interaction networks

Helka Göös, Matias Kinnunen, Kari Salokas, Zenglai Tan, Xiaonan Liu, Leena Yadav, Qin Zhang, Gong-Hong Wei, Markku Varjosalo

Nat Commun. 2022; 13: 766. Published online 2022 Feb 9. doi: 10.1038/s41467-022-28341-5

PMCID:: PMC8828895

Article PDF–1.7M

Select item 549522514.

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

Article PDF–1.3M

Select item 910523515.

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

Article PDF–5.8M

Select item 567858116.

RNA-binding activity of TRIM25 is mediated by its PRY/SPRY domain and is required for ubiquitination

Nila Roy Choudhury, Gregory Heikel, Maryia Trubitsyna, Peter Kubik, Jakub Stanislaw Nowak, Shaun Webb, Sander Granneman, Christos Spanos, Juri Rappsilber, Alfredo Castello, Gracjan Michlewski

BMC Biol. 2017; 15: 105. Published online 2017 Nov 8. doi: 10.1186/s12915-017-0444-9

PMCID:: PMC5678581

Article PDF–3.2M

Select item 461721117.

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 716998318.

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

Article PDF–5.4M

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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