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Select item 114309771.

A Novel Pathogenic Large Duplication in EXT1 Identified in a Family with Multiple Osteochondromas

Isabella Bartolotti, Klaudia Sobul, Serena Corsini, Davide Scognamiglio, Alice Moroni, Maria Gnoli, Luca Sangiorgi, Elena Pedrini

Genes (Basel) 2024 Sep; 15(9): 1169. Published online 2024 Sep 5. doi: 10.3390/genes15091169

PMCID:: PMC11430977

Abstract Article PDF–1.2M

Select item 111235712.

Exostoisns (EXT1/2) in Head and Neck Cancers: An In Silico Analysis and Clinical Correlates

Yiping Wang, Yan Huang, Houwei Zhu, Zhenzhen Guo, Jun Cheng, Churen Zhang, Ming Zhong

Int Dent J. 2024 Jun; 74(3): 446–453. Published online 2023 Nov 21. doi: 10.1016/j.identj.2023.10.017

PMCID:: PMC11123571

Abstract Article PDF–2.0M

Select item 108018943.

The exostosin glycosyltransferase 1/STAT3 axis is a driver of breast cancer aggressiveness

Balakrishnan Solaimuthu, Anees Khatib, Mayur Tanna, Abdelrahman Karmi, Arata Hayashi, Areej Abu Rmaileh, Michal Lichtenstein, Suranjana Takoe, Mohit Kumar Jolly, Yoav David Shaul

Proc Natl Acad Sci U S A. 2024 Jan 16; 121(3): e2316733121. Published online 2024 Jan 12. doi: 10.1073/pnas.2316733121

PMCID:: PMC10801894

Abstract Article PDF–3.5M

Select item 107590904.

Clinical significance of exostosin 1 in confirmed and suspected lupus membranous nephropathy

Tian Ye, Mengya Jiang, Xueyan Zeng, Dan Zong, Yuanyuan Du, Xiaohong Li, Biao Huang, Xuanli Tang

Lupus Sci Med. 2023; 10(2): e001051. Published online 2023 Dec 28. doi: 10.1136/lupus-2023-001051

PMCID:: PMC10759090

Abstract Article PDF–3.0M

Select item 101600065.

Structural basis for heparan sulfate co-polymerase action by the EXT1–2 complex

Hua Li, Digantkumar Chapla, Robert A. Amos, Annapoorani Ramiah, Kelley W. Moremen, Huilin Li

Nat Chem Biol. Author manuscript; available in PMC 2023 May 5.

Published in final edited form as: Nat Chem Biol. 2023 May; 19(5): 565–574. Published online 2023 Jan 2. doi: 10.1038/s41589-022-01220-2

PMCID:: PMC10160006

Abstract Article PDF–6.1M

Select item 100494866.

Exostosin 1 Knockdown Induces Chemoresistance in MV3 Melanoma Cells by Upregulating JNK and MEK/ERK Signaling

Vladlena Pfeifer, Heiko Weber, Yuanyuan Wang, Martin Schlesinger, Christian Gorzelanny, Gerd Bendas

Int J Mol Sci. 2023 Mar; 24(6): 5452. Published online 2023 Mar 13. doi: 10.3390/ijms24065452

PMCID:: PMC10049486

Abstract Article PDF–5.3M

Select item 98638737.

Haploinsufficiency of EXT1 and Heparan Sulphate Deficiency Associated with Hereditary Multiple Exostoses in a Pakistani Family

Muhammad Ajmal, Hafsah Muhammad, Muhammad Nasir, Muhammad Shoaib, Salman Akbar Malik, Irfan Ullah

Medicina (Kaunas) 2023 Jan; 59(1): 100. Published online 2022 Dec 31. doi: 10.3390/medicina59010100

PMCID:: PMC9863873

Abstract Article PDF–2.0M

Select item 96757548.

Structure of the human heparan sulfate polymerase complex EXT1-EXT2

Francisco Leisico, Juneina Omeiri, Christine Le Narvor, Joël Beaudouin, Michael Hons, Daphna Fenel, Guy Schoehn, Yohann Couté, David Bonnaffé, Rabia Sadir, Hugues Lortat-Jacob, Rebekka Wild

Nat Commun. 2022; 13: 7110. Published online 2022 Nov 19. doi: 10.1038/s41467-022-34882-6

PMCID:: PMC9675754

Abstract Article PDF–2.4M

Select item 92316239.

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

Abstract Article PDF–6.0M

Select item 913224710.

A dominant negative splice variant of the heparan sulfate biosynthesis enzyme NDST1 reduces heparan sulfate sulfation

Parisa Missaghian, Tabea Dierker, Elham Khosrowabadi, Fredrik Axling, Inger Eriksson, Abdurrahman Ghanem, Marion Kusche-Gullberg, Sakari Kellokumpu, Lena Kjellén

Glycobiology. 2022 Jun; 32(6): 518–528. Published online 2022 Feb 7. doi: 10.1093/glycob/cwac004

PMCID:: PMC9132247

Abstract Article PDF–1.4M

Select item 910630311.

Genome-wide CRISPR screens using isogenic cells reveal vulnerabilities conferred by loss of tumor suppressors

Xu Feng, Mengfan Tang, Merve Dede, Dan Su, Guangsheng Pei, Dadi Jiang, Chao Wang, Zhen Chen, Mi Li, Litong Nie, Yun Xiong, Siting Li, Jeong-Min Park, Huimin Zhang, Min Huang, Klaudia Szymonowicz, Zhongming Zhao, Traver Hart, Junjie Chen

Sci Adv. 2022 May; 8(19): eabm6638. Published online 2022 May 13. doi: 10.1126/sciadv.abm6638

PMCID:: PMC9106303

Abstract Article PDF–918K

Select item 892295912.

Genetic and functional analyses detect an EXT1 splicing pathogenic variant in a Chinese hereditary multiple exostosis (HME) family

Jianwei Li, Zhiqiang Wang, Yaxin Han, Chengfang Jin, Dalin Cheng, Yong‐An Zhou, Junping Zhen

Mol Genet Genomic Med. 2022 Mar; 10(3): e1878. Published online 2022 Feb 1. doi: 10.1002/mgg3.1878

PMCID:: PMC8922959

Abstract Article PDF–1.2M

Select item 886400013.

Prevalence of neural epidermal growth factor-like 1- and exostosin 1/exostosin 2-associated membranous nephropathy: a single-center retrospective study in Japan

Takamasa Iwakura, Chiemi Ema, Shinsuke Isobe, Tomoyuki Fujikura, Naro Ohashi, Akihiko Kato, Hideo Yasuda

Sci Rep. 2022; 12: 2967. Published online 2022 Feb 22. doi: 10.1038/s41598-022-07037-2

PMCID:: PMC8864000

Abstract Article PDF–3.0M

Select item 842126714.

GOLPH3 and GOLPH3L are broad-spectrum COPI adaptors for sorting into intra-Golgi transport vesicles

Lawrence G. Welch, Sew-Yeu Peak-Chew, Farida Begum, Tim J. Stevens, Sean Munro

J Cell Biol. 2021 Oct 4; 220(10): e202106115. Published online 2021 Sep 2. doi: 10.1083/jcb.202106115

PMCID:: PMC8421267

Abstract Article PDF–5.4M

Select item 836758415.

Mutational Analysis of EXT1in a Chinese Family Affected by Hereditary Multiple Osteochondroma

Guangzhi Yuan, Qiang Su, Wenjun Liao, Wei Hou, Linke Huang, Peng Wang, Huayu Wu

Biomed Res Int. 2021; 2021: 8888948. Published online 2021 Aug 6. doi: 10.1155/2021/8888948

PMCID:: PMC8367584

Abstract Article PDF–1.5M

Select item 816503016.

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 793392917.

EXT1 methylation promotes proliferation and migration and predicts the clinical outcome of non‐small cell lung carcinoma via WNT signalling pathway

Wencui Kong, Ying Chen, Zhongquan Zhao, Lei Zhang, Xiandong Lin, Xingguang Luo, Shuiliang Wang, Zhengbo Song, Xiangwu Lin, Guoxiang Lai, Zongyang Yu

J Cell Mol Med. 2021 Mar; 25(5): 2609–2620. Published online 2021 Feb 9. doi: 10.1111/jcmm.16277

PMCID:: PMC7933929

Abstract Article PDF–1.5M

Select item 792017718.

In Patients with Membranous Lupus Nephritis, Exostosin-Positivity and Exostosin-Negativity Represent Two Different Phenotypes

Aishwarya Ravindran, Marta Casal Moura, Fernando C. Fervenza, Samih H. Nasr, Mariam P. Alexander, Mary E. Fidler, Loren P. Herrera Hernandez, Pingchuan Zhang, Joseph P. Grande, Lynn D. Cornell, Lou Ann Gross, Vivian Negron, Grace E. Jenson, Benjamin J. Madden, M. Cristine Charlesworth, Sanjeev Sethi

J Am Soc Nephrol. 2021 Mar; 32(3): 695–706. Published online 2021 Jan 21. doi: 10.1681/ASN.2020081181

PMCID:: PMC7920177

Abstract Article

Select item 790591019.

Mutation spectrum of EXT1 and EXT2 in the Saudi patients with hereditary multiple exostoses

Zayed Al-Zayed, Roua A. Al-Rijjal, Lamya Al-Ghofaili, Huda A. BinEssa, Rajeev Pant, Anwar Alrabiah, Thamer Al-Hussainan, Minjing Zou, Brian F. Meyer, Yufei Shi

Orphanet J Rare Dis. 2021; 16: 100. Published online 2021 Feb 25. doi: 10.1186/s13023-021-01738-z

PMCID:: PMC7905910

Abstract Article PDF–1.6M

Select item 756688120.

Systematic mapping of genetic interactions for de novo fatty acid synthesis identifies C12orf49 as a regulator of lipid metabolism

Michael Aregger, Keith A. Lawson, Maximillian Billmann, Michael Costanzo, Amy H. Y. Tong, Katherine Chan, Mahfuzur Rahman, Kevin R. Brown, Catherine Ross, Matej Usaj, Lucy Nedyalkova, Olga Sizova, Andrea Habsid, Judy Pawling, Zhen-Yuan Lin, Hala Abdouni, Cassandra J. Wong, Alexander Weiss, Patricia Mero, James W. Dennis, Anne-Claude Gingras, Chad L. Myers, Brenda J. Andrews, Charles Boone, Jason Moffat

Nat Metab. Author manuscript; available in PMC 2020 Dec 1.

Published in final edited form as: Nat Metab. 2020 Jun; 2(6): 499–513. Published online 2020 Jun 1. doi: 10.1038/s42255-020-0211-z

PMCID:: PMC7566881

Abstract Article PDF–4.8M

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