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Select item 57635401.

Three unreported cases of TMEM199-CDG, a rare genetic liver disease with abnormal glycosylation

Pietro Vajro, Katarzyna Zielinska, Bobby G. Ng, Marco Maccarana, Per Bengtson, Marco Poeta, Claudia Mandato, Elisa D’Acunto, Hudson H. Freeze, Erik A. Eklund

Orphanet J Rare Dis. 2018; 13: 4. Published online 2018 Jan 10. doi: 10.1186/s13023-017-0757-3

PMCID:: PMC5763540

Abstract Article PDF–581K

Select item 102147212.

Abnormal glycosylation in glioma: related changes in biology, biomarkers and targeted therapy

Juan Yue, Roujie Huang, Zehao Lan, Bo Xiao, Zhaohui Luo

Biomark Res. 2023; 11: 54. Published online 2023 May 26. doi: 10.1186/s40364-023-00491-8

PMCID:: PMC10214721

Abstract Article PDF–8.3M

Select item 84355263.

Severe COVID‐19 is associated with endothelial activation and abnormal glycosylation of von Willebrand factor in patients undergoing hemodialysis

Golzar Mobayen, Amrita Dhutia, Candice Clarke, Maria Prendecki, Stephen McAdoo, Renos Keniyopoullos, Talat Malik, Michael Laffan, Michelle Willicombe, Thomas McKinnon

Res Pract Thromb Haemost. 2021 Aug; 5(6): e12582. Published online 2021 Sep 12. doi: 10.1002/rth2.12582

PMCID:: PMC8435526

Abstract Article PDF–861K

Select item 103086924.

ST6GALNAC4 promotes hepatocellular carcinogenesis by inducing abnormal glycosylation

Da Man, Yifan Jiang, Deguo Zhang, Jingjing Wu, Bo Ding, Hanqing Liu, Guangming Xu, Jiahua Lu, Junnan Ru, Rongliang Tong, Shusheng Zheng, Diyu Chen, Jian Wu

J Transl Med. 2023; 21: 420. Published online 2023 Jun 29. doi: 10.1186/s12967-023-04191-7

PMCID:: PMC10308692

Abstract Article PDF–4.6M

Select item 80564575.

Abnormal Glycosylation of Cancer Stem Cells and Targeting Strategies

Thahomina Khan, Horacio Cabral

Front Oncol. 2021; 11: 649338. Published online 2021 Apr 6. doi: 10.3389/fonc.2021.649338

PMCID:: PMC8056457

Abstract Article PDF–4.0M

Select item 44862776.

Girls with Seizures Due to the c.320A>G Variant in ALG13 Do Not Show Abnormal Glycosylation Pattern on Standard Testing

Bethanny Smith-Packard, Scott M. Myers, Marc S. Williams

JIMD Rep. 2015; 22: 95–98. Published online 2015 Mar 3. doi: 10.1007/8904_2015_416

PMCID:: PMC4486277

Abstract Article PDF–107K

Select item 76898447.

Screening for abnormal glycosylation in a cohort of adult liver disease patients

Jos C. Jansen, Bart van Hoek, Herold J. Metselaar, Aad P. van den Berg, Fokje Zijlstra, Karin Huijben, Monique van Scherpenzeel, Joost P. H. Drenth, Dirk J. Lefeber

J Inherit Metab Dis. 2020 Nov; 43(6): 1310–1320. Published online 2020 Jul 17. doi: 10.1002/jimd.12273

PMCID:: PMC7689844

Abstract Article PDF–1.6M

Select item 107897848.

Construction of an abnormal glycosylation risk model and its application in predicting the prognosis of patients with head and neck cancer

Yihan Gao, Wenjing Li, Haobing Guo, Yacui Hao, Lili Lu, Jichen Li, Songlin Piao

Sci Rep. 2024; 14: 1310. Published online 2024 Jan 15. doi: 10.1038/s41598-023-50092-6

PMCID:: PMC10789784

Abstract Article PDF–7.4M

Select item 74792249.

miR-452 Reverses Abnormal Glycosylation Modification of ERα and Estrogen Resistance in TNBC (Triple-Negative Breast Cancer) Through Targeting UGT1A1

Yan Li, Yidong Zhou, Feng Mao, Songjie Shen, Bin Zhao, Yali Xu, Yan Lin, Xiaohui Zhang, Xi Cao, Ying Xu, Chang Chen, Jinqian Zhang, Qiang Sun

Front Oncol. 2020; 10: 1509. Published online 2020 Aug 26. doi: 10.3389/fonc.2020.01509

PMCID:: PMC7479224

Abstract Article PDF–2.8M

Select item 282202310.

Abnormal Glycosylation of EAAT1 and EAAT2 in Prefrontal Cortex of Elderly Patients with Schizophrenia

Deborah Bauer, Vahram Haroutunian, James H. Meador-Woodruff, Robert E. McCullumsmith

Schizophr Res. Author manuscript; available in PMC 2011 Mar 1.

Published in final edited form as: Schizophr Res. 2010 Mar; 117(1): 92. Published online 2009 Aug 27. doi: 10.1016/j.schres.2009.07.025

PMCID:: PMC2822023

Abstract Article PDF–766K

Select item 474636811.

TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation

Jos C. Jansen, Sharita Timal, Monique van Scherpenzeel, Helen Michelakakis, Dorothée Vicogne, Angel Ashikov, Marina Moraitou, Alexander Hoischen, Karin Huijben, Gerry Steenbergen, Marjolein A.W. van den Boogert, Francesco Porta, Pier Luigi Calvo, Mersyni Mavrikou, Giovanna Cenacchi, Geert van den Bogaart, Jody Salomon, Adriaan G. Holleboom, Richard J. Rodenburg, Joost P.H. Drenth, Martijn A. Huynen, Ron A. Wevers, Eva Morava, François Foulquier, Joris A. Veltman, Dirk J. Lefeber

Am J Hum Genet. 2016 Feb 4; 98(2): 322–330. Published online 2016 Jan 28. doi: 10.1016/j.ajhg.2015.12.011

PMCID:: PMC4746368

Abstract Article PDF–2.8M

Select item 505917812.

Abnormal Glycosylation Profile and High Alpha-Fetoprotein in a Patient with Twinkle Variants

Juliette Bouchereau, Sandrine Vuillaumier Barrot, Thierry Dupré, Stuart E. H. Moore, Ruxandra Cardas, Yline Capri, Pauline Gaignard, Abdelhamid Slama, Catherine Delanoë, Hélène Ogier de Baulny, Nathalie Seta, Manuel Schiff, Laurent Servais

JIMD Rep. 2016; 29: 109–113. Published online 2016 Feb 27. doi: 10.1007/8904_2016_526

PMCID:: PMC5059178

Abstract Article PDF–144K

Select item 123555913.

Mutations in the Fukutin-Related Protein Gene (FKRP) Cause a Form of Congenital Muscular Dystrophy with Secondary Laminin α2 Deficiency and Abnormal Glycosylation of α-Dystroglycan

Martin Brockington, Derek J. Blake, Paola Prandini, Susan C. Brown, Silvia Torelli, Matthew A. Benson, Chris P. Ponting, Brigitte Estournet, Norma B. Romero, Eugenio Mercuri, Thomas Voit, Caroline A. Sewry, Pascale Guicheney, Francesco Muntoni

Am J Hum Genet. 2001 Dec; 69(6): 1198–1209. Published online 2001 Oct 8. doi: 10.1086/324412

PMCID:: PMC1235559

Abstract Article PDF–1.0M

Select item 122301414.

Topological analysis of peripherin/rds and abnormal glycosylation of the pathogenic Pro216-->Leu mutation.

Jonathan D J Wrigley, Claire L Nevett, John B C Findlay

Biochem J. 2002 Dec 1; 368(Pt 2): 649–655. doi: 10.1042/BJ20020547

PMCID:: PMC1223014

Summary PDF–245K

Select item 627693015.

A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism

Eva Morava, Ron A. Wevers, Vincent Cantagrel, Lies H. Hoefsloot, Lihadh Al-Gazali, Jeroen Schoots, Arno van Rooij, Karin Huijben, Connie M. A. van Ravenswaaij-Arts, Marjolein C. J. Jongmans, Jolanta Sykut-Cegielska, Georg F. Hoffmann, Peter Bluemel, Maciej Adamowicz, Jeroen van Reeuwijk, Bobby G. Ng, Jorieke E. H. Bergman, Hans van Bokhoven, Christian Körner, Dusica Babovic-Vuksanovic, Michel A. Willemsen, Joseph G. Gleeson, Ludwig Lehle, Arjan P. M. de Brouwer, Dirk J. Lefeber

Brain. 2010 Nov; 133(11): 3210–3220. Published online 2010 Sep 17. doi: 10.1093/brain/awq261

PMCID:: PMC6276930

Abstract Article PDF–369K

Select item 536456616.

Abnormal glycosylation in Joubert syndrome type 10

Megan S. Kane, Mariska Davids, Michelle R. Bond, Christopher J. Adams, Megan E. Grout, Ian G. Phelps, Diana R. O’Day, Jennifer C. Dempsey, Xeuli Li, Gretchen Golas, Gilbert Vezina, Meral Gunay-Aygun, John A. Hanover, Dan Doherty, Miao He, May Christine V. Malicdan, William A. Gahl, Cornelius F. Boerkoel

Cilia. 2017; 6: 2. Published online 2017 Mar 23. doi: 10.1186/s13630-017-0048-6

PMCID:: PMC5364566

Abstract Article PDF–3.1M

Select item 570176317.

Muscular Dystrophy with Ribitol-Phosphate Deficiency: A Novel Post-Translational Mechanism in Dystroglycanopathy

Motoi Kanagawa, Tatsushi Toda

J Neuromuscul Dis. 2017; 4(4): 259–267. Prepublished online 2017 Oct 24. Published online 2017 Nov 21. doi: 10.3233/JND-170255

PMCID:: PMC5701763

Abstract Article PDF–275K

Select item 615953118.

Temporal requirement of dystroglycan glycosylation during brain development and rescue of severe cortical dysplasia via gene delivery in the fetal stage

Atsushi Sudo, Motoi Kanagawa, Mai Kondo, Chiyomi Ito, Kazuhiro Kobayashi, Mitsuharu Endo, Yasuhiro Minami, Atsu Aiba, Tatsushi Toda

Hum Mol Genet. 2018 Apr 1; 27(7): 1174–1185. Published online 2018 Jan 19. doi: 10.1093/hmg/ddy032

PMCID:: PMC6159531

Abstract Article PDF–1.7M

Select item 930617319.

Dysregulation and prometastatic function of glycosyltransferase C1GALT1 modulated by cHP1BP3/ miR-1-3p axis in bladder cancer

Zengqi Tan, Yazhuo Jiang, Liang Liang, Jinpeng Wu, Lin Cao, Xiaoman Zhou, Zhihui Song, Zhenyu Ye, Ziyan Zhao, Hui Feng, Zewen Dong, Shuai Lin, Zhangjian Zhou, Yili Wang, Xiang Li, Feng Guan

J Exp Clin Cancer Res. 2022; 41: 228. Published online 2022 Jul 21. doi: 10.1186/s13046-022-02438-7

PMCID:: PMC9306173

Abstract Article PDF–16M

Select item 439140020.

Chromosomal translocations highlighted in Primitive Neuroectodermal Tumors (PNET) and Ewing sarcoma

IO Trancău

J Med Life. 2014; 7(Spec Iss 3): 44–50.

PMCID:: PMC4391400

Abstract Article PDF–152K

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