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Select item 63235521.

GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome

Amy J. LaCroix, Deborah Stabley, Rebecca Sahraoui, Margaret P. Adam, Michele Mehaffey, Kelly Kernan, Candace T. Myers, Carrie Fagerstrom, George Anadiotis, Yassmine M. Akkari, Katherine M. Robbins, Karen W. Gripp, Wagner A.R. Baratela, Michael B. Bober, Angela L. Duker, Dan Doherty, Jennifer C. Dempsey, Daniel G. Miller, Martin Kircher, Michael J. Bamshad, Deborah A. Nickerson, University of Washington Center for Mendelian Genomics, Heather C. Mefford, Katia Sol-Church

Am J Hum Genet. 2019 Jan 3; 104(1): 35–44. Published online 2018 Dec 13. doi: 10.1016/j.ajhg.2018.11.005

PMCID:: PMC6323552

Abstract Article PDF–1.0M

Select item 39519452.

XYLT1 Mutations in Desbuquois Dysplasia Type 2

Catherine Bui, Céline Huber, Beyhan Tuysuz, Yasemin Alanay, Christine Bole-Feysot, Jules G. Leroy, Geert Mortier, Patrick Nitschke, Arnold Munnich, Valérie Cormier-Daire

Am J Hum Genet. 2014 Mar 6; 94(3): 405–414. doi: 10.1016/j.ajhg.2014.01.020

PMCID:: PMC3951945

Abstract Article PDF–939K

Select item 33165353.

Xylosyltransferase-I Regulates Glycosaminoglycan Synthesis during the Pathogenic Process of Human Osteoarthritis

Narayanan Venkatesan, Lydia Barré, Mustapha Bourhim, Jacques Magdalou, Didier Mainard, Patrick Netter, Sylvie Fournel-Gigleux, Mohamed Ouzzine

PLoS One. 2012; 7(3): e34020. Published online 2012 Mar 30. doi: 10.1371/journal.pone.0034020

PMCID:: PMC3316535

Abstract Article PDF–1019K

Select item 13860144.

Human xylosyltransferase I and N-terminal truncated forms: functional characterization of the core enzyme

Sandra Müller, Jennifer Disse, Manuela Schöttler, Sylvia Schön, Christian Prante, Thomas Brinkmann, Joachim Kuhn, Knut Kleesiek, Christian Götting

Biochem J. 2006 Feb 15; 394(Pt 1): 163–171. Prepublished online 2005 Oct 14. Published online 2006 Jan 27. doi: 10.1042/BJ20051606

PMCID:: PMC1386014

Abstract Article PDF–827K

Select item 72262005.

Activin A-Mediated Regulation of XT-I in Human Skin Fibroblasts

Thanh-Diep Ly, Ricarda Plümers, Bastian Fischer, Vanessa Schmidt, Doris Hendig, Joachim Kuhn, Cornelius Knabbe, Isabel Faust

Biomolecules. 2020 Apr; 10(4): 609. Published online 2020 Apr 14. doi: 10.3390/biom10040609

PMCID:: PMC7226200

Abstract Article PDF–2.3M

Select item 69793516.

Expression of xylosyltransferases I and II and their role in the pathogenesis of arthrofibrosis

Anke Bernstein, Sven N. A. Reichert, Norbert P. Südkamp, Sergio Latorre Hernandez, Andreas G. Nerlich, Jan Kühle, Hermann O. Mayr

J Orthop Surg Res. 2020; 15: 27. Published online 2020 Jan 23. doi: 10.1186/s13018-020-1544-8

PMCID:: PMC6979351

Abstract Article PDF–1.2M

Select item 62907917.

microRNA-29b mediates fibrotic induction of human xylosyltransferase-I in human dermal fibroblasts via the Sp1 pathway

Lara Riedel, Bastian Fischer, Thanh-Diep Ly, Doris Hendig, Joachim Kuhn, Cornelius Knabbe, Isabel Faust

Sci Rep. 2018; 8: 17779. Published online 2018 Dec 12. doi: 10.1038/s41598-018-36217-2

PMCID:: PMC6290791

Abstract Article PDF–1.4M

Select item 59923268.

Structural Basis for the Initiation of Glycosaminoglycan Biosynthesis by Human Xylosyltransferase 1

David C. Briggs, Erhard Hohenester

Structure. 2018 Jun 5; 26(6): 801–809.e3. doi: 10.1016/j.str.2018.03.014

PMCID:: PMC5992326

Abstract Article PDF–2.6M

Select item 42645499.

First description of the complete human xylosyltransferase-I promoter region

Isabel Faust, Kai Oliver Böker, Christoph Lichtenberg, Joachim Kuhn, Cornelius Knabbe, Doris Hendig

BMC Genet. 2014; 15: 129. Published online 2014 Dec 5. doi: 10.1186/s12863-014-0129-0

PMCID:: PMC4264549

Abstract Article PDF–1.2M

Select item 278147610.

Identification and Characterization of the Human Xylosyltransferase I Gene Promoter Region

Benjamin Müller, Christian Prante, Knut Kleesiek, Christian Götting

J Biol Chem. 2009 Nov 6; 284(45): 30775–30782. Published online 2009 Sep 17. doi: 10.1074/jbc.M109.016592

PMCID:: PMC2781476

Abstract Article PDF–3.0M

Select item 259303111.

Polymorphisms in the xylosyltransferase genes cause higher serum XT‐I activity in patients with pseudoxanthoma elasticum (PXE) and are involved in a severe disease course

S Schön, V Schulz, C Prante, D Hendig, C Szliska, J Kuhn, K Kleesiek, C Götting

J Med Genet. 2006 Sep; 43(9): 745–749. Published online 2006 Apr 12. doi: 10.1136/jmg.2006.040972

PMCID:: PMC2593031

Abstract Article PDF–205K

Select item 113478612.

Human xylosyltransferase I: functional and biochemical characterization of cysteine residues required for enzymic activity

Sandra Müller, Manuela Schöttler, Sylvia Schön, Christian Prante, Thomas Brinkmann, Joachim Kuhn, Christian Götting, Knut Kleesiek

Biochem J. 2005 Mar 1; 386(Pt 2): 227–236. Prepublished online 2004 Oct 4. Published online 2005 Feb 22. doi: 10.1042/BJ20041206

PMCID:: PMC1134786

Abstract Article PDF–918K

Select item 354848713.

Regulation of Xylosyltransferase I Gene Expression by Interleukin 1β in Human Primary Chondrocyte Cells: MECHANISM AND IMPACT ON PROTEOGLYCAN SYNTHESIS

Mostafa Khair, Mustapha Bourhim, Lydia Barré, Dong Li, Patrick Netter, Jacques Magdalou, Sylvie Fournel-Gigleux, Mohamed Ouzzine

J Biol Chem. 2013 Jan 18; 288(3): 1774–1784. Published online 2012 Dec 5. doi: 10.1074/jbc.M112.419887

PMCID:: PMC3548487

Abstract Article PDF–1.6M

Select item 357605114.

Identification of a Candidate Gene for Astigmatism

Margarida C. Lopes, Pirro G. Hysi, Virginie J. M. Verhoeven, Stuart Macgregor, Alex W. Hewitt, Grant W. Montgomery, Phillippa Cumberland, Johannes R. Vingerling, Terri L. Young, Cornelia M. van Duijn, Ben Oostra, Andre G. Uitterlinden, Jugnoo S. Rahi, David A. Mackey, Caroline C. W. Klaver, Toby Andrew, Christopher J. Hammond

Invest Ophthalmol Vis Sci. 2013 Feb; 54(2): 1260–1267. Published online 2013 Feb 13. doi: 10.1167/iovs.12-10463

PMCID:: PMC3576051

Abstract Article PDF–282K

Select item 430518015.

Xylosyltransferase-1 Expression Is Refractory to Inhibition by the Inflammatory Cytokines Tumor Necrosis Factor α and IL-1β in Nucleus Pulposus Cells: Novel Regulation by AP-1, Sp1, and Sp3

Wei Ye, Jie Zhou, Dessislava Z. Markova, Ye Tian, Jun Li, D. Greg Anderson, Irving M. Shapiro, Makarand V. Risbud

Am J Pathol. 2015 Feb; 185(2): 485–495. doi: 10.1016/j.ajpath.2014.09.021

PMCID:: PMC4305180

Abstract Article PDF–1.2M

Select item 304781416.

Proteomic profiling of Myc-associated proteins

Pooja Agrawal, Kebing Yu, Arthur R Salomon, John M Sedivy

Cell Cycle. 2010 Dec 15; 9(24): 4908–4921. Published online 2010 Dec 15. doi: 10.4161/cc.9.24.14199

PMCID:: PMC3047814

Abstract Article PDF–1.6M

Select item 358276917.

CBFβ stabilizes HIV Vif to counteract APOBEC3 at the expense of RUNX1 target gene expression

Dong Young Kim, Eunju Kwon, Paul D. Hartley, David C. Crosby, Sumanjit Mann, Nevan J. Krogan, John D. Gross

Mol Cell. Author manuscript; available in PMC 2014 Feb 21.

Published in final edited form as: Mol Cell. 2013 Feb 21; 49(4): 632–644. Published online 2013 Jan 17. doi: 10.1016/j.molcel.2012.12.012

PMCID:: PMC3582769

Abstract Article PDF–4.5M

Select item 791045918.

Combinatorial CRISPR screen identifies fitness effects of gene paralogues

Nicola A. Thompson, Marco Ranzani, Louise van der Weyden, Vivek Iyer, Victoria Offord, Alastair Droop, Fiona Behan, Emanuel Gonçalves, Anneliese Speak, Francesco Iorio, James Hewinson, Victoria Harle, Holly Robertson, Elizabeth Anderson, Beiyuan Fu, Fengtang Yang, Guido Zagnoli-Vieira, Phil Chapman, Martin Del Castillo Velasco-Herrera, Mathew J. Garnett, Stephen P. Jackson, David J. Adams

Nat Commun. 2021; 12: 1302. Published online 2021 Feb 26. doi: 10.1038/s41467-021-21478-9

PMCID:: PMC7910459

Abstract Article PDF–3.3M

Select item 433215019.

Proteomic analyses reveal distinct chromatin-associated and soluble transcription factor complexes

Xu Li, Wenqi Wang, Jiadong Wang, Anna Malovannaya, Yuanxin Xi, Wei Li, Rudy Guerra, David H Hawke, Jun Qin, Junjie Chen

Mol Syst Biol. 2015 Jan; 11(1): 775. Published online 2015 Jan 21. doi: 10.15252/msb.20145504

PMCID:: PMC4332150

Abstract Article PDF–2.8M

Select item 874895820.

EZH2 depletion potentiates MYC degradation inhibiting neuroblastoma and small cell carcinoma tumor formation

Liyuan Wang, Chan Chen, Zemin Song, Honghong Wang, Minghui Ye, Donghai Wang, Wenqian Kang, Hudan Liu, Guoliang Qing

Nat Commun. 2022; 13: 12. Published online 2022 Jan 10. doi: 10.1038/s41467-021-27609-6

PMCID:: PMC8748958

Abstract Article PDF–3.0M

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