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Select item 108727321.

Defining the phenotype of PGAP3-congenital disorder of glycosylation; a review of 65 cases

Ruqaiah Altassan, Michael M. Allers, Diederik De Graef, Rameen Shah, Maaike de Vries, Austin Larson, Emma Glamuzina, Eva Morava

Mol Genet Metab. Author manuscript; available in PMC 2024 Nov 1.

Published in final edited form as: Mol Genet Metab. 2023 Nov; 140(3): 107688. Published online 2023 Aug 23. doi: 10.1016/j.ymgme.2023.107688

PMCID:: PMC10872732

Abstract Article PDF–876K

Select item 92626142.

A dual-activity topoisomerase complex regulates mRNA translation and turnover

Shuaikun Su, Yutong Xue, Alexei Sharov, Yongqing Zhang, Seung Kyu Lee, Jennifer L Martindale, Wen Li, Wai Lim Ku, Keji Zhao, Supriyo De, Weiping Shen, Payel Sen, Myriam Gorospe, Dongyi Xu, Weidong Wang

Nucleic Acids Res. 2022 Jul 8; 50(12): 7013–7033. Published online 2022 Jun 24. doi: 10.1093/nar/gkac538

PMCID:: PMC9262614

Abstract Article PDF–3.6M

Select item 85664733.

Competitive binding of E3 ligases TRIM26 and WWP2 controls SOX2 in glioblastoma

Tatenda Mahlokozera, Bhuvic Patel, Hao Chen, Patrick Desouza, Xuan Qu, Diane D. Mao, Daniel Hafez, Wei Yang, Rukayat Taiwo, Mounica Paturu, Afshin Salehi, Amit D. Gujar, Gavin P. Dunn, Nima Mosammaparast, Allegra A. Petti, Hiroko Yano, Albert H. Kim

Nat Commun. 2021; 12: 6321. Published online 2021 Nov 3. doi: 10.1038/s41467-021-26653-6

PMCID:: PMC8566473

Abstract Article PDF–2.7M

Select item 81650304.

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 81647505.

Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene

Molly E. Heft Neal, Andrew C. Birkeland, Apurva D. Bhangale, Jingyi Zhai, Aditi Kulkarni, Susan K. Foltin, Brittany M. Jewell, Megan L. Ludwig, Lisa Pinatti, Hui Jiang, Jonathan B. McHugh, Lawence Marentette, Erin L. McKean, J. Chad Brenner

BMC Cancer. 2021; 21: 636. Published online 2021 May 29. doi: 10.1186/s12885-021-08370-x

PMCID:: PMC8164750

Abstract Article PDF–3.2M

Select item 69709926.

The Asthma-associated PER1-like domain-containing protein 1 (PERLD1) Haplotype Influences Soluble Glycosylphosphatidylinositol Anchor Protein (sGPI-AP) Levels in Serum and Immune Cell Proliferation

Yang Yie Sio, Ramani Anantharaman, Sean Qiu En Lee, Sri Anusha Matta, Yu Ting Ng, Fook Tim Chew

Sci Rep. 2020; 10: 715. Published online 2020 Jan 20. doi: 10.1038/s41598-020-57592-9

PMCID:: PMC6970992

Abstract Article PDF–1.8M

Select item 59268947.

Identification of the CAB2/hCOS16 Gene Required for the Repair of DNA Double‐strand Breaks on a Core Amplified Region of the 17ql2 Locus in Breast and Gastric Cancers

Masahiko Nezu, Michiko Nishigaki, Tomoki Ishizuka, Yoshitaka Kuwahara, Chikako Tanabe, Kazuhiko Aoyagi, Hiromi Sakamoto, Yasushi Saito, Terahiko Yoshida, Hiroki Sasaki, Masaaki Terada

Jpn J Cancer Res. 2002 Nov; 93(11): 1183–1186. doi: 10.1111/j.1349-7006.2002.tb01221.x

PMCID:: PMC5926894

Summary PDF–215K

Select item 57859738.

Identification of a Golgi GPI-N-acetylgalactosamine transferase with tandem transmembrane regions in the catalytic domain

Tetsuya Hirata, Sushil K. Mishra, Shota Nakamura, Kazunobu Saito, Daisuke Motooka, Yoko Takada, Noriyuki Kanzawa, Yoshiko Murakami, Yusuke Maeda, Morihisa Fujita, Yoshiki Yamaguchi, Taroh Kinoshita

Nat Commun. 2018; 9: 405. Published online 2018 Jan 26. doi: 10.1038/s41467-017-02799-0

PMCID:: PMC5785973

Abstract Article PDF–4.4M

Select item 55316119.

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

Abstract Article PDF–2.7M

Select item 508476510.

Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome

Alexej Knaus, Tomonari Awaya, Ingo Helbig, Zaid Afawi, Manuela Pendziwiat, Jubran Abu‐Rachma, Miles D. Thompson, David E. Cole, Steve Skinner, Fran Annese, Natalie Canham, Michal R. Schweiger, Peter N. Robinson, Stefan Mundlos, Taroh Kinoshita, Arnold Munnich, Yoshiko Murakami, Denise Horn, Peter M. Krawitz

Hum Mutat. 2016 Aug; 37(8): 737–744. Published online 2016 May 19. doi: 10.1002/humu.23006

PMCID:: PMC5084765

Abstract Article PDF–1.0M

Select item 461721111.

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

Abstract Article PDF–2.2M

Select item 392865612.

Mutations in PGAP3 Impair GPI-Anchor Maturation, Causing a Subtype of Hyperphosphatasia with Mental Retardation

Malcolm F. Howard, Yoshiko Murakami, Alistair T. Pagnamenta, Cornelia Daumer-Haas, Björn Fischer, Jochen Hecht, David A. Keays, Samantha J.L. Knight, Uwe Kölsch, Ulrike Krüger, Steffen Leiz, Yusuke Maeda, Daphne Mitchell, Stefan Mundlos, John A. Phillips, III, Peter N. Robinson, Usha Kini, Jenny C. Taylor, Denise Horn, Taroh Kinoshita, Peter M. Krawitz

Am J Hum Genet. 2014 Feb 6; 94(2): 278–287. doi: 10.1016/j.ajhg.2013.12.012

PMCID:: PMC3928656

Abstract Article PDF–1.9M

Select item 368170413.

Apical sorting of lysoGPI-anchored proteins occurs independent of association with detergent-resistant membranes but dependent on their N-glycosylation

Guillaume Alain Castillon, Laetitia Michon, Reika Watanabe

Mol Biol Cell. 2013 Jun 15; 24(12): 2021–2033. doi: 10.1091/mbc.E13-03-0160

PMCID:: PMC3681704

Abstract Article PDF–6.8M

Select item 326873414.

Genome-wide association study identifies PERLD1 as asthma candidate gene

Ramani Anantharaman, Anand Kumar Andiappan, Pallavi Parate Nilkanth, Bani Kaur Suri, De Yun Wang, Fook Tim Chew

BMC Med Genet. 2011; 12: 170. Published online 2011 Dec 21. doi: 10.1186/1471-2350-12-170

PMCID:: PMC3268734

Abstract Article PDF–1.5M

Select item 317805915.

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas

Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042

PMCID:: PMC3178059

Abstract Article PDF–1.0M

Select item 294516816.

Variation at the NFATC2 Locus Increases the Risk of Thiazolidinedione-Induced Edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) Study

Swneke D. Bailey, Changchun Xie, Ron Do, Alexandre Montpetit, Rafael Diaz, Viswanathan Mohan, Bernard Keavney, Salim Yusuf, Hertzel C. Gerstein, James C. Engert, Sonia Anand, on behalf of the DREAM investigators

Diabetes Care. 2010 Oct; 33(10): 2250–2253. Published online 2010 Jul 13. doi: 10.2337/dc10-0452

PMCID:: PMC2945168

Abstract Article PDF–153K

Select item 277583217.

Gene-centric Association Signals for Lipids and Apolipoproteins Identified via the HumanCVD BeadChip

Philippa J. Talmud, Fotios Drenos, Sonia Shah, Tina Shah, Jutta Palmen, Claudio Verzilli, Tom R. Gaunt, Jacky Pallas, Ruth Lovering, Kawah Li, Juan Pablo Casas, Reecha Sofat, Meena Kumari, Santiago Rodriguez, Toby Johnson, Stephen J. Newhouse, Anna Dominiczak, Nilesh J. Samani, Mark Caulfield, Peter Sever, Alice Stanton, Denis C. Shields, on behalf of the ASCOT investigators, Sandosh Padmanabhan, Olle Melander, Claire Hastie, Christian Delles, on behalf of the NORDIL investigators, Shah Ebrahim, Michael G. Marmot, George Davey Smith, Debbie A. Lawlor, Patricia B. Munroe, for the BRIGHT Consortium, Ian N. Day, Mika Kivimaki, John Whittaker, Steve E. Humphries, Aroon D. Hingorani

Am J Hum Genet. 2009 Nov 13; 85(5): 628–642. doi: 10.1016/j.ajhg.2009.10.014

PMCID:: PMC2775832

Abstract Article PDF–2.8M

Select item 265507718.

Common Genetic Variation in Candidate Genes and Susceptibility to Sub-types of Breast Cancer

Nasim Mavaddat, Alison M Dunning, Bruce AJ Ponder, Douglas F Easton, Paul D Pharoah

Cancer Epidemiol Biomarkers Prev. Author manuscript; available in PMC 2009 Jul 1.

Published in final edited form as: Cancer Epidemiol Biomarkers Prev. 2009 Jan; 18(1): 255–259. doi: 10.1158/1055-9965.EPI-08-0704

PMCID:: PMC2655077

Abstract Article PDF–791K

Select item 236075919.

HapMap-based study of the 17q21 ERBB2 amplicon in susceptibility to breast cancer

P R Benusiglio, P D Pharoah, P L Smith, F Lesueur, D Conroy, R N Luben, G Dew, C Jordan, A Dunning, D F Easton, B A J Ponder

Br J Cancer. 2006 Dec 18; 95(12): 1689–1695. Published online 2006 Nov 21. doi: 10.1038/sj.bjc.6603473

PMCID:: PMC2360759

Abstract Article PDF–114K

Select item 183896820.

Fatty Acid Remodeling of GPI-anchored Proteins Is Required for Their Raft Association

Yusuke Maeda, Yuko Tashima, Toshiaki Houjou, Morihisa Fujita, Takehiko Yoko-o, Yoshifumi Jigami, Ryo Taguchi, Taroh Kinoshita

Mol Biol Cell. 2007 Apr; 18(4): 1497–1506. doi: 10.1091/mbc.E06-10-0885

PMCID:: PMC1838968

Abstract Article PDF–1.3M

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