PMC Articles for MedGen (Select 98377) - PMC

Select item 59444871.

Multiple unexpected lesions of metachondromatosis detected by technetium-99m methylene diphosphonate SPECT/CT: A case report

Zi Wang, Yuting Zou, Yu Chen, Yue Chen

Medicine (Baltimore) 2018 Apr; 97(17): e0512. Published online 2018 Apr 27. doi: 10.1097/MD.0000000000010512

PMCID:: PMC5944487

Article PDF–669K

Select item 41480132.

Ptpn11 Deletion in A Novel Cartilage Cell Causes Metachondromatosis by Activating Hedgehog Signaling

Wentian Yang, Jianguo Wang, Douglas C. Moore, Haipei Liang, Mark Dooner, Qian Wu, Richard Terek, Qian Chen, Michael G. Ehrlich, Peter J. Quesenberry, Benjamin G. Neel

Nature. Author manuscript; available in PMC 2014 Aug 28.

Published in final edited form as: Nature. 2013 Jul 25; 499(7459): 491–495. Published online 2013 Jul 17. doi: 10.1038/nature12396

PMCID:: PMC4148013

Article PDF–1.3M

Select item 40815373.

Targeted Disruption of Shp2 in Chondrocytes Leads to Metachondromatosis With Multiple Cartilaginous Protrusions

Harry KW Kim, Gen-Sheng Feng, Di Chen, Philip D King, Nobuhiro Kamiya

J Bone Miner Res. Author manuscript; available in PMC 2014 Jul 4.

Published in final edited form as: J Bone Miner Res. 2014 Mar; 29(3): 761–769. doi: 10.1002/jbmr.2062

PMCID:: PMC4081537

Article PDF–2.2M

Select item 39274904.

From an orphan disease to a generalized molecular mechanism: PTPN11 loss-of-function mutations in the pathogenesis of metachondromatosis

Wentian Yang, Benjamin G Neel

Rare Dis. 2013; 1: e26657. Published online 2013 Oct 2. doi: 10.4161/rdis.26657

PMCID:: PMC3927490

Article PDF–523K

Select item 38863495.

Metachondromatosis: more than just multiple osteochondromas

Thomas J. Fisher, Nicole Williams, Lloyd Morris, Peter J. Cundy

J Child Orthop. 2013 Dec; 7(6): 455–464. Published online 2013 Sep 21. doi: 10.1007/s11832-013-0526-3

PMCID:: PMC3886349

Article PDF–3.3M

Select item 30773966.

Loss-of-Function Mutations in PTPN11 Cause Metachondromatosis, but Not Ollier Disease or Maffucci Syndrome

Margot E. Bowen, Eric D. Boyden, Ingrid A. Holm, Belinda Campos-Xavier, Luisa Bonafé, Andrea Superti-Furga, Shiro Ikegawa, Valerie Cormier-Daire, Judith V. Bovée, Twinkal C. Pansuriya, Sérgio B. de Sousa, Ravi Savarirayan, Elena Andreucci, Miikka Vikkula, Livia Garavelli, Caroline Pottinger, Toshihiko Ogino, Akinori Sakai, Bianca M. Regazzoni, Wim Wuyts, Luca Sangiorgi, Elena Pedrini, Mei Zhu, Harry P. Kozakewich, James R. Kasser, Jon G. Seidman, Kyle C. Kurek, Matthew L. Warman

PLoS Genet. 2011 Apr; 7(4): e1002050. Published online 2011 Apr 14. doi: 10.1371/journal.pgen.1002050

PMCID:: PMC3077396

Article PDF–1023K

Select item 20510787.

PATHOLOGICAL FRACTURES; A CONSIDERATION WITH METACHONDROMATOSIS AND DIFFERENTIAL DIAGNOSES: Osteochondromatosis and Gauchers Disease

Russell J. Banks

Australas Chiropr Osteopathy. 2002 Nov; 10(2): 105–110.

PMCID:: PMC2051078

Summary PDF–46K

Select item 56292188.

SHP2 Regulates the Osteogenic Fate of Growth Plate Hypertrophic Chondrocytes

Lijun Wang, Jiahui Huang, Douglas C. Moore, Chunlin Zuo, Qian Wu, Liqin Xie, Klaus von der Mark, Xin Yuan, Di Chen, Matthew L. Warman, Michael G. Ehrlich, Wentian Yang

Sci Rep. 2017; 7: 12699. Published online 2017 Oct 5. doi: 10.1038/s41598-017-12767-9

PMCID:: PMC5629218

Article PDF–8.8M

Select item 40384659.

SHP2 Regulates Chondrocyte Terminal Differentiation, Growth Plate Architecture and Skeletal Cell Fates

Margot E. Bowen, Ugur M. Ayturk, Kyle C. Kurek, Wentian Yang, Matthew L. Warman

PLoS Genet. 2014 May; 10(5): e1004364. Published online 2014 May 29. doi: 10.1371/journal.pgen.1004364

PMCID:: PMC4038465

Article PDF–21M

Select item 290711710.

Enchondromatosis: insights on the different subtypes

Twinkal C Pansuriya, Herman M Kroon, Judith VMG Bovée

Int J Clin Exp Pathol. 2010; 3(6): 557–569. Published online 2010 Jun 26.

PMCID:: PMC2907117

Article PDF–3.0M

Select item 288746911.

Whole-Genome Sequencing of a Single Proband Together with Linkage Analysis Identifies a Mendelian Disease Gene

Nara L. M. Sobreira, Elizabeth T. Cirulli, Dimitrios Avramopoulos, Elizabeth Wohler, Gretchen L. Oswald, Eric L. Stevens, Dongliang Ge, Kevin V. Shianna, Jason P. Smith, Jessica M. Maia, Curtis E. Gumbs, Jonathan Pevsner, George Thomas, David Valle, Julie E. Hoover-Fong, David B. Goldstein

PLoS Genet. 2010 Jun; 6(6): e1000991. Published online 2010 Jun 17. doi: 10.1371/journal.pgen.1000991

PMCID:: PMC2887469

Article PDF–2.3M

Select item 227619812.

Multiple osteochondromas

Judith VMG Bovée

Orphanet J Rare Dis. 2008; 3: 3. Published online 2008 Feb 13. doi: 10.1186/1750-1172-3-3

PMCID:: PMC2276198

Article PDF–447K

Select item 101696213.

Genochondromatosis.

M Le Merrer, P Fressinger, P Maroteaux

J Med Genet. 1991 Jul; 28(7): 485–489. doi: 10.1136/jmg.28.7.485

PMCID:: PMC1016962

Summary Page Browse PDF–1.2M

Select item 991718814.

The Cell-Specific Role of SHP2 in Regulating Bone Homeostasis and Regeneration Niches

Jie Zhang, Chengxinyue Ye, Yufan Zhu, Jun Wang, Jin Liu

Int J Mol Sci. 2023 Feb; 24(3): 2202. Published online 2023 Jan 22. doi: 10.3390/ijms24032202

PMCID:: PMC9917188

Article PDF–1.6M

Select item 967247115.

Modeling (not so) rare developmental disorders associated with mutations in the protein-tyrosine phosphatase SHP2

Maja Solman, Daniëlle T. J. Woutersen, Jeroen den Hertog

Front Cell Dev Biol. 2022; 10: 1046415. Published online 2022 Nov 4. doi: 10.3389/fcell.2022.1046415

PMCID:: PMC9672471

Article PDF–2.2M

Select item 929327916.

Forearm Hereditary Multiple Exostosis: A Retrospective Case Series Study

Nizar Hamdi, Hatan Mortada, Zainab Al Eid, Anas M Makhdoum

Cureus. 2022 Jun; 14(6): e26039. Published online 2022 Jun 17. doi: 10.7759/cureus.26039

PMCID:: PMC9293279

Article PDF–653K

Select item 783828917.

Targeted Ptpn11 deletion in mice reveals the essential role of SHP2 in osteoblast differentiation and skeletal homeostasis

Lijun Wang, Huiliang Yang, Jiahui Huang, Shaopeng Pei, Liyun Wang, Jian Q. Feng, Dian Jing, Hu Zhao, Henry M. Kronenberg, Douglas C. Moore, Wentian Yang

Bone Res. 2021; 9: 6. Published online 2021 Jan 27. doi: 10.1038/s41413-020-00129-7

PMCID:: PMC7838289

Article PDF–5.9M

Select item 781874118.

An unusual example of hereditary multiple exostoses: a case report and review of the literature

Rebecca Chilvers, James A. Gallagher, Nathan Jeffery, Alistair P. Bond

BMC Musculoskelet Disord. 2021; 22: 96. Published online 2021 Jan 21. doi: 10.1186/s12891-021-03967-6

PMCID:: PMC7818741

Article PDF–2.0M

Select item 448778319.

ERK1 and ERK2 regulate chondrocyte terminal differentiation during endochondral bone formation

Zhijun Chen, Susan X. Yue, Guang Zhou, Edward M. Greenfield, Shunichi Murakami

J Bone Miner Res. Author manuscript; available in PMC 2016 May 1.

Published in final edited form as: J Bone Miner Res. 2015 May; 30(5): 765–774. doi: 10.1002/jbmr.2409

PMCID:: PMC4487783

Article PDF–2.6M

Select item 260079020.

Acroform type of enchondromatosis associated with severe vertebral involvement and facial dysmorphism in a boy with a new variant of enchondromatosis type I1 of Spranger: case report and a review of the literature

Ali Al Kaissi, Katharina Roetzer, Klaus Klaushofer, Franz Grill

Cases J. 2008; 1: 324. Published online 2008 Nov 18. doi: 10.1186/1757-1626-1-324

PMCID:: PMC2600790

Article PDF–384K

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