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Select item 89153981.

Clinical survey of a pedigree with hereditary multiple exostoses and identification of EXT-2 gene deletion mutation

Wentao Wang, Mingyuan Yang, Yuhang Shen, Kai Chen, Donghua Wu, Changwei Yang, Jinyi Bai, Dawei He, Jun Gao

Mol Med Rep. 2022 Apr; 25(4): 141. Published online 2022 Feb 24. doi: 10.3892/mmr.2022.12657

PMCID:: PMC8915398

Abstract Article PDF–1.5M

Select item 84184992.

Identification of a novel EXT2 frameshift mutation in a family with hereditary multiple exostoses by whole‐exome sequencing

Mei Yang, Hanbing Xie, Bocheng Xu, Qinqin Xiang, He Wang, Ting Hu, Shanling Liu

J Clin Lab Anal. 2021 Sep; 35(9): e23968. Published online 2021 Aug 17. doi: 10.1002/jcla.23968

PMCID:: PMC8418499

Abstract Article PDF–1001K

Select item 51020423.

Novel mutation of EXT2 identified in a large family with multiple osteochondromas

Xiao-Jun Chen, Hong Zhang, Zhi-Ping Tan, Wen Hu, Yi-Feng Yang

Mol Med Rep. 2016 Nov; 14(5): 4687–4691. Published online 2016 Oct 6. doi: 10.3892/mmr.2016.5814

PMCID:: PMC5102042

Abstract Article PDF–895K

Select item 39842454.

A Splice Mutation and mRNA Decay of EXT2 Provoke Hereditary Multiple Exostoses

Chen Tian, Rengna Yan, Shuzhen Wen, Xueling Li, Tianfeng Li, Zhenming Cai, Xinxiu Li, Hong Du, Huimei Chen

PLoS One. 2014; 9(4): e94848. Published online 2014 Apr 11. doi: 10.1371/journal.pone.0094848

PMCID:: PMC3984245

Abstract Article PDF–1.2M

Select item 18015605.

Refinement of the Multiple Exostoses Locus (EXT2) to a 3-cM Interval on Chromosome 11

Wim Wuyts, Sarvan Ramlakhan, Wim Van Hul, Jacqueline T. Hecht, Ans M. W. van den Ouweland, Wendy H. Raskind, Floris C. Hofstede, Edwin Reyniers, Dan E. Wells, Bert de Vries, Ernest U. Conrad, April Hill, Dmitry Zalatayev, Jean Weissenbach, Michael J. Wagner, Egbert Bakker, Dicky J. J. Halley, Patrick J. Willems

Am J Hum Genet. 1995 Aug; 57(2): 382–387.

PMCID:: PMC1801560

Summary Page Browse PDF–1.0M

Select item 101600066.

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 99174517.

Insights into the Peritumoural Brain Zone of Glioblastoma: CDK4 and EXT2 May Be Potential Drivers of Malignancy

Martina Giambra, Andrea Di Cristofori, Donatella Conconi, Matilde Marzorati, Serena Redaelli, Melissa Zambuto, Alessandra Rocca, Louis Roumy, Giorgio Carrabba, Marialuisa Lavitrano, Gaia Roversi, Carlo Giussani, Angela Bentivegna

Int J Mol Sci. 2023 Feb; 24(3): 2835. Published online 2023 Feb 2. doi: 10.3390/ijms24032835

PMCID:: PMC9917451

Abstract Article PDF–6.8M

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 79201779.

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 790591010.

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 730723711.

Identification of Novel EXT Mutations in Patients with Hereditary Multiple Exostoses Using Whole‐Exome Sequencing

Chao Liang, Yong‐jie Wang, Yu‐xuan Wei, Yang Dong, Zhi‐chang Zhang

Orthop Surg. 2020 Jun; 12(3): 990–996. Published online 2020 Apr 15. doi: 10.1111/os.12660

PMCID:: PMC7307237

Abstract Article PDF–1.1M

Select item 621190212.

Heterogeneous spectrum of EXT gene mutations in Chinese patients with hereditary multiple osteochondromas

Yuchan Li, Jian Wang, Jingyan Tang, Zhigang Wang, Bingqiang Han, Niu Li, Tingting Yu, Yulin Chen, Qihua Fu

Medicine (Baltimore) 2018 Oct; 97(42): e12855. Published online 2018 Oct 19. doi: 10.1097/MD.0000000000012855

PMCID:: PMC6211902

Abstract Article PDF–545K

Select item 601445713.

Analysis of mutations in EXT1 and EXT2 in Brazilian patients with multiple osteochondromas

Savana C. L. Santos, Isabela M. P. O. Rizzo, Reinaldo I. Takata, Carlos E. Speck‐Martins, Jaime M. Brum, Claudio Sollaci

Mol Genet Genomic Med. 2018 May; 6(3): 382–392. Published online 2018 Mar 12. doi: 10.1002/mgg3.382

PMCID:: PMC6014457

Abstract Article PDF–1004K

Select item 478439314.

Large-scale mutational analysis in the EXT1 and EXT2 genes for Japanese patients with multiple osteochondromas

Daichi Ishimaru, Masanori Gotoh, Shinichiro Takayama, Rika Kosaki, Yoshihiro Matsumoto, Hisashi Narimatsu, Takashi Sato, Koji Kimata, Haruhiko Akiyama, Katsuji Shimizu, Kazu Matsumoto

BMC Genet. 2016; 17: 52. Published online 2016 Mar 9. doi: 10.1186/s12863-016-0359-4

PMCID:: PMC4784393

Abstract Article PDF–543K

Select item 427734815.

Carriers of Loss-of-Function Mutations in EXT Display Impaired Pancreatic Beta-Cell Reserve Due to Smaller Pancreas Volume

Sophie J. Bernelot Moens, Hans L. Mooij, H . Carlijne Hassing, Janine K. Kruit, Julia J. Witjes, Michiel A. J. van de Sande, Aart J. Nederveen, Ding Xu, Geesje M. Dallinga-Thie, Jeffrey D. Esko, Erik S. G. Stroes, Max Nieuwdorp

PLoS One. 2014; 9(12): e115662. Published online 2014 Dec 26. doi: 10.1371/journal.pone.0115662

PMCID:: PMC4277348

Abstract Article PDF–486K

Select item 416671216.

A broad spectrum of genomic changes in latinamerican patients with EXT1/EXT2-CDG

M. A. Delgado, G. Martinez-Domenech, P. Sarrión, R. Urreizti, L. Zecchini, H. H. Robledo, F. Segura, R. Dodelson de Kremer, S. Balcells, D. Grinberg, C. G. Asteggiano

Sci Rep. 2014; 4: 6407. Published online 2014 Sep 18. doi: 10.1038/srep06407

PMCID:: PMC4166712

Abstract Article PDF–360K

Select item 399085917.

Mutational screening of EXT1 and EXT2 genes in Polish patients with hereditary multiple exostoses

Aleksander Jamsheer, Magdalena Socha, Anna Sowińska-Seidler, Kinga Telega, Tomasz Trzeciak, Anna Latos-Bieleńska

J Appl Genet. 2014; 55(2): 183–188. Published online 2014 Feb 15. doi: 10.1007/s13353-014-0195-z

PMCID:: PMC3990859

Abstract Article PDF–157K

Select item 358182518.

Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas

P. Sarrión, A. Sangorrin, R. Urreizti, A. Delgado, R. Artuch, L. Martorell, J. Armstrong, J. Anton, F. Torner, M. A. Vilaseca, J. Nevado, P. Lapunzina, C. G. Asteggiano, S. Balcells, D. Grinberg

Sci Rep. 2013; 3: 1346. Published online 2013 Feb 26. doi: 10.1038/srep01346

PMCID:: PMC3581825

Abstract Article PDF–579K

Select item 315288119.

Breakpoint characterization of large deletions in EXT1 or EXT2 in 10 Multiple Osteochondromas families

Ivy Jennes, Danielle de Jong, Kirsten Mees, Pancras CW Hogendoorn, Karoly Szuhai, Wim Wuyts

BMC Med Genet. 2011; 12: 85. Published online 2011 Jun 26. doi: 10.1186/1471-2350-12-85

PMCID:: PMC3152881

Abstract Article PDF–1.2M

Select item 294728920.

No Haploinsufficiency but Loss of Heterozygosity for EXT in Multiple Osteochondromas

Christianne M.A. Reijnders, Cathelijn J.F. Waaijer, Andrew Hamilton, Emilie P. Buddingh, Sander P.D. Dijkstra, John Ham, Egbert Bakker, Karoly Szuhai, Marcel Karperien, Pancras C.W. Hogendoorn, Sally E. Stringer, Judith V.M.G. Bovée

Am J Pathol. 2010 Oct; 177(4): 1946–1957. doi: 10.2353/ajpath.2010.100296