PMC Links for Gene (Select 10491) - PMC

Fleur S Van Dijk, Isabel M Nesbitt, Peter G J Nikkels, Ann Dalton, Ernie M H F Bongers, Jiddeke M van de Kamp, Yvonne Hilhorst-Hofstee, Nicolette S Den Hollander, Augusta M A Lachmeijer, Carlo L Marcelis, Gita M B Tan-Sindhunata, Rick R van Rijn, Hanne Meijers-Heijboer, Jan M Cobben, Gerard Pals

Eur J Hum Genet. 2009 Dec; 17(12): 1560–1569. Published online 2009 Jun 24. doi: 10.1038/ejhg.2009.75

Correction in:: Eur J Hum Genet. 2009 Dec; 17(12): 1692.

PMCID:: PMC2987020

Abstract Article PDF–419K

Select item 31565554.

Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta

Joan C. Marini, Wayne A. Cabral, Aileen M. Barnes

Cell Tissue Res. Author manuscript; available in PMC 2011 Aug 16.

Published in final edited form as: Cell Tissue Res. 2010 Jan; 339(1): 59–70. Published online 2009 Oct 28. doi: 10.1007/s00441-009-0872-0

PMCID:: PMC3156555

Abstract Article PDF–332K

Select item 28253775.

CRTAP deficiency leads to abnormally high bone matrix mineralization in a murine model and in children with Osteogenesis Imperfecta type VII

N Fratzl-Zelman, R. Morello, B Lee, F Rauch, FH Glorieux, BM Misof, K Klaushofer, P Roschger

Bone. Author manuscript; available in PMC 2010 Mar 1.

Published in final edited form as: Bone. 2010 Mar; 46(3): 820–826. Published online 2009 Nov 4. doi: 10.1016/j.bone.2009.10.037

PMCID:: PMC2825377

Abstract Article PDF–696K

Select item 26715756.

CRTAP AND LEPRE1 MUTATIONS IN RECESSIVE OSTEOGENESIS IMPERFECTA

Dustin Baldridge, Ulrike Schwarze, Roy Morello, Jennifer Lennington, Terry K. Bertin, James M. Pace, Melanie G. Pepin, MaryAnn Weis, David R. Eyre, Jennifer Walsh, Deborah Lambert, Andrew Green, Haynes Robinson, Melonie Michelson, Gunnar Houge, Carl Lindman, Judith Martin, Jewell Ward, Emmanuelle Lemyre, John J. Mitchell, Deborah Krakow, David L. Rimoin, Daniel H. Cohn, Peter H. Byers, Brendan Lee

Hum Mutat. Author manuscript; available in PMC 2009 Apr 21.

Published in final edited form as: Hum Mutat. 2008 Dec; 29(12): 1435–1442. doi: 10.1002/humu.20799

PMCID:: PMC2671575

Abstract Article PDF–2.5M

Select item 27968887.

Prolyl 3-hydroxylase 1 and CRTAP are mutually stabilizing in the endoplasmic reticulum collagen prolyl 3-hydroxylation complex

Weizhong Chang, Aileen M. Barnes, Wayne A. Cabral, Joann N. Bodurtha, Joan C. Marini

Hum Mol Genet. 2010 Jan 15; 19(2): 223–234. Published online 2009 Oct 21. doi: 10.1093/hmg/ddp481

PMCID:: PMC2796888

Abstract Article PDF–451K

Select item 26388018.

Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype–phenotype relationships

Dale L. Bodian, Ting-Fung Chan, Annie Poon, Ulrike Schwarze, Kathleen Yang, Peter H. Byers, Pui-Yan Kwok, Teri E. Klein

Hum Mol Genet. 2009 Feb 1; 18(3): 463–471. Published online 2008 Nov 7. doi: 10.1093/hmg/ddn374

Correction in:: Hum Mol Genet. 2009 May 15; 18(10): 1893–1895.

PMCID:: PMC2638801

Abstract Article PDF–106K

Select item 31565609.

Lack of Cyclophilin B in Osteogenesis Imperfecta with Normal Collagen Folding

Aileen M. Barnes, Erin M. Carter, Wayne A. Cabral, MaryAnn Weis, Weizhong Chang, Elena Makareeva, Sergey Leikin, Charles N. Rotimi, David R. Eyre, Cathleen L. Raggio, Joan C. Marini

N Engl J Med. Author manuscript; available in PMC 2011 Aug 16.

Published in final edited form as: N Engl J Med. 2010 Feb 11; 362(6): 521–528. Published online 2010 Jan 20. doi: 10.1056/NEJMoa0907705

PMCID:: PMC3156560

Abstract Article PDF–1.8M

Select item 294657810.

Common variants in FLNB/CRTAP, not ARHGEF3 at 3p, are associated with osteoporosis in southern Chinese women

G. H. Y. Li, A. W. C. Kung, Q.-Y. Huang

Osteoporos Int. 2010 Jun; 21(6): 1009–1020. Published online 2009 Sep 1. doi: 10.1007/s00198-009-1043-6

PMCID:: PMC2946578

Abstract Article PDF–379K

Select item 381474011.

An Additional Function of the Rough Endoplasmic Reticulum Protein Complex Prolyl 3-Hydroxylase 1·Cartilage-associated Protein·Cyclophilin B: THE CXXXC MOTIF REVEALS DISULFIDE ISOMERASE ACTIVITY IN VITRO

Yoshihiro Ishikawa, Hans Peter Bächinger

J Biol Chem. 2013 Nov 1; 288(44): 31437–31446. Published online 2013 Sep 16. doi: 10.1074/jbc.M113.498063

PMCID:: PMC3814740

Abstract Article PDF–1.2M

Select item 1002268612.

Myosin-X recruits lamellipodin to filopodia tips

Ana Popović, Mitro Miihkinen, Sujan Ghimire, Rafael Saup, Max L. B. Grönloh, Neil J. Ball, Benjamin T. Goult, Johanna Ivaska, Guillaume Jacquemet

J Cell Sci. 2023 Mar 1; 136(5): jcs260574. Published online 2023 Mar 2. doi: 10.1242/jcs.260574

PMCID:: PMC10022686

Abstract Article

Select item 320872813.

Proteomic dissection of the VHL interactome

Yanlai Lai, Meihua Song, Kevin Hakala, Susan T. Weintraub, Yuzuru Shiio

J Proteome Res. Author manuscript; available in PMC 2012 Nov 4.

Published in final edited form as: J Proteome Res. 2011 Nov 4; 10(11): 5175–5182. Published online 2011 Oct 11. doi: 10.1021/pr200642c

PMCID:: PMC3208728

Abstract Article PDF–1.1M

Select item 625176114.

Endogenous Cell Type-Specific DISC1 Interactomes Reveal Protein Networks Associated to Neurodevelopmental Disorders

Brent Wilkinson, Oleg Evgrafov, DongQing Zheng, Nicolas Hartel, James A. Knowles, Nicholas A. Graham, Justin Ichida, Marcelo P. Coba

Biol Psychiatry. Author manuscript; available in PMC 2020 Feb 15.

Published in final edited form as: Biol Psychiatry. 2019 Feb 15; 85(4): 305–316. Published online 2018 May 23. doi: 10.1016/j.biopsych.2018.05.009

PMCID:: PMC6251761

Abstract Article PDF–1.6M

Select item 739249115.

TGFβ attenuates cartilage extracellular matrix degradation via enhancing FBXO6-mediated MMP14 ubiquitination

Gangliang Wang, Shuai Chen, Ziang Xie, Shuying Shen, Wenbin Xu, Wenxiang Chen, Xiang Li, Yizheng Wu, Liangping Li, Bin Liu, Xianjun Ding, An Qin, Shunwu Fan

Ann Rheum Dis. 2020 Aug; 79(8): 1111–1120. Published online 2020 May 14. doi: 10.1136/annrheumdis-2019-216911

PMCID:: PMC7392491

Abstract Article PDF–14M

Select item 982313116.

Flotillin-2 regulates epidermal growth factor receptor activation, degradation by Cbl-mediated ubiquitination, and cancer growth

David J. Wisniewski, Mariya S. Liyasova, Soumya Korrapati, Xu Zhang, Shashikala Ratnayake, Qingrong Chen, Samuel F. Gilbert, Alexis Catalano, Donna Voeller, Daoud Meerzaman, Udayan Guha, Natalie Porat-Shliom, Christina M. Annunziata, Stanley Lipkowitz

J Biol Chem. 2023 Jan; 299(1): 102766. Published online 2022 Dec 5. doi: 10.1016/j.jbc.2022.102766

PMCID:: PMC9823131

Abstract Article PDF–2.5M

Select item 723200917.

Phosphorylation switches protein disulfide isomerase activity to maintain proteostasis and attenuate ER stress

Jiaojiao Yu, Tao Li, Yu Liu, Xi Wang, Jianchao Zhang, Xi'e Wang, Guizhi Shi, Jizhong Lou, Likun Wang, Chih‐chen Wang, Lei Wang

EMBO J. 2020 May 18; 39(10): e103841. Published online 2020 Mar 9. doi: 10.15252/embj.2019103841

PMCID:: PMC7232009

Abstract Article PDF–5.5M

Select item 660120818.

SETD1A Methyltransferase Is Physically and Functionally Linked to the DNA Damage Repair Protein RAD18

Manal Alsulami, Nayla Munawar, Eugene Dillon, Giorgio Oliviero, Kieran Wynne, Mona Alsolami, Catherine Moss, Peadar Ó Gaora, Fergal O'Meara, David Cotter, Gerard Cagney

Mol Cell Proteomics. 2019 Jul; 18(7): 1428–1436. Published online 2019 May 10. doi: 10.1074/mcp.RA119.001518

PMCID:: PMC6601208

Abstract Article PDF–1.8M

Select item 947545319.

The N⁶-methyladenosine-mediated lncRNA WEE2-AS1 promotes glioblastoma progression by stabilizing RPN2

Boyan Li, Rongrong Zhao, Wei Qiu, Ziwen Pan, Shulin Zhao, Yanhua Qi, Jiawei Qiu, Shouji Zhang, Qindong Guo, Yang Fan, Hao Xu, Ming Li, Gang Li, Hao Xue

Theranostics. 2022; 12(14): 6363–6379. Published online 2022 Aug 29. doi: 10.7150/thno.74600

PMCID:: PMC9475453

Abstract Article PDF–4.4M

Select item 799307620.

Characterization of SARS-CoV-2 proteins reveals Orf6 pathogenicity, subcellular localization, host interactions and attenuation by Selinexor

Jin-Gu Lee, Weiliang Huang, Hangnoh Lee, Joyce van de Leemput, Maureen A. Kane, Zhe Han

Cell Biosci. 2021; 11: 58. Published online 2021 Mar 25. doi: 10.1186/s13578-021-00568-7

PMCID:: PMC7993076

Abstract Article PDF–2.0M

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