PMC Links for OMIM (Select 600211) - PMC

Select item 61172641.

A three-generation family with metaphyseal dysplasia, maxillary hypoplasia and brachydactyly (MDMHB) due to intragenic RUNX2 duplication

Amina Al-Yassin, Alistair D. Calder, Mike Harrison, Tracy Lester, Helen Lord, Michael Oldridge, Sophie Watkins, Richard Keen, Emma L. Wakeling

Eur J Hum Genet. 2018 Sep; 26(9): 1288–1293. Published online 2018 Jun 11. doi: 10.1038/s41431-018-0166-7

PMCID:: PMC6117264

Abstract Article PDF–4.7M

Select item 51007452.

A Draft Sequence of the Neandertal Genome

Richard E. Green, Johannes Krause, Adrian W. Briggs, Tomislav Maricic, Udo Stenzel, Martin Kircher, Nick Patterson, Heng Li, Weiwei Zhai, Markus Hsi-Yang Fritz, Nancy F. Hansen, Eric Y. Durand, Anna-Sapfo Malaspinas, Jeffrey D. Jensen, Tomas Marques-Bonet, Can Alkan, Kay Prüfer, Matthias Meyer, Hernán A. Burbano, Jeffrey M. Good, Rigo Schultz, Ayinuer Aximu-Petri, Anne Butthof, Barbara Höber, Barbara Höffner, Madlen Siegemund, Antje Weihmann, Chad Nusbaum, Eric S. Lander, Carsten Russ, Nathaniel Novod, Jason Affourtit, Michael Egholm, Christine Verna, Pavao Rudan, Dejana Brajkovic, Željko Kucan, Ivan Gušic, Vladimir B. Doronichev, Liubov V. Golovanova, Carles Lalueza-Fox, Marco de la Rasilla, Javier Fortea, Antonio Rosas, Ralf W. Schmitz, Philip L. F. Johnson, Evan E. Eichler, Daniel Falush, Ewan Birney, James C. Mullikin, Montgomery Slatkin, Rasmus Nielsen, Janet Kelso, Michael Lachmann, David Reich, Svante Pääbo

Science. Author manuscript; available in PMC 2016 Nov 8.

Published in final edited form as: Science. 2010 May 7; 328(5979): 710–722. doi: 10.1126/science.1188021

PMCID:: PMC5100745

Abstract Article PDF–1.0M

Select item 35672753.

Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly Is Caused by a Duplication in RUNX2

Pierre Moffatt, Mouna Ben Amor, Francis H. Glorieux, Paul Roschger, Klaus Klaushofer, Jeremy A. Schwartzentruber, Andrew D. Paterson, Pingzhao Hu, Christian Marshall, FORGE Canada Consortium, Somayyeh Fahiminiya, Jacek Majewski, Chandree L. Beaulieu, Kym M. Boycott, Frank Rauch

Am J Hum Genet. 2013 Feb 7; 92(2): 252–258. doi: 10.1016/j.ajhg.2012.12.001

PMCID:: PMC3567275

Abstract Article PDF–761K

Select item 27995464.

Severe Cleidocranial dysplasia and Hypophosphatasia in a child with microdeletion of the C-terminal region of RUNX2

Areeg H. El-Gharbawy, Joseph N. Peeden, Ralph S. Lachman, John M. Graham, Stephen R. Moore, David L. Rimoin

Am J Med Genet A. Author manuscript; available in PMC 2011 Jan 1.

Published in final edited form as: Am J Med Genet A. 2010 Jan; 152A(1): 169–174. doi: 10.1002/ajmg.a.33146

PMCID:: PMC2799546

Abstract Article PDF–1.1M

Select item 27109995.

Uncoupling of chondrocyte differentiation and perichondrial mineralization underlies the skeletal dysplasia in tricho-rhino-phalangeal syndrome

Dobrawa Napierala, Kathy Sam, Roy Morello, Qiping Zheng, Elda Munivez, Ramesh A. Shivdasani, Brendan Lee

Hum Mol Genet. 2008 Jul 15; 17(14): 2244–2254. Published online 2008 Apr 17. doi: 10.1093/hmg/ddn125

PMCID:: PMC2710999

Abstract Article PDF–1.2M

Select item 26387956.

A Runx2 threshold for the cleidocranial dysplasia phenotype

Yang Lou, Amjad Javed, Sadiq Hussain, Jennifer Colby, Dana Frederick, Jitesh Pratap, Ronglin Xie, Tripti Gaur, Andre J. van Wijnen, Stephen N. Jones, Gary S. Stein, Jane B. Lian, Janet L. Stein

Hum Mol Genet. 2009 Feb 1; 18(3): 556–568. Published online 2008 Nov 20. doi: 10.1093/hmg/ddn383

PMCID:: PMC2638795

Abstract Article PDF–1.1M

Select item 21728337.

Type X collagen gene regulation by Runx2 contributes directly to its hypertrophic chondrocyte–specific expression in vivo

Qiping Zheng, Guang Zhou, Roy Morello, Yuqing Chen, Xavier Garcia-Rojas, Brendan Lee

J Cell Biol. 2003 Sep 1; 162(5): 833–842. doi: 10.1083/jcb.200211089

PMCID:: PMC2172833

Abstract Article PDF–458K

Select item 21724438.

Terminal osteoblast differentiation, mediated by runx2 and p27^KIP1, is disrupted in osteosarcoma

David M. Thomas, Sandra A. Johnson, Natalie A. Sims, Melanie K. Trivett, John L. Slavin, Brian P. Rubin, Paul Waring, Grant A. McArthur, Carl R. Walkley, Andrew J. Holloway, Dileepa Diyagama, Jonathon E. Grim, Bruce E. Clurman, David D.L. Bowtell, Jong-Seo Lee, Gabriel M. Gutierrez, Denise M. Piscopo, Shannon A. Carty, Philip W. Hinds

J Cell Biol. 2004 Dec 6; 167(5): 925–934. doi: 10.1083/jcb.200409187

PMCID:: PMC2172443

Abstract Article PDF–2.1M

Select item 21721369.

Runx2 induces osteoblast and chondrocyte differentiation and enhances their migration by coupling with PI3K-Akt signaling

Takashi Fujita, Yasutaka Azuma, Ryo Fukuyama, Yuji Hattori, Carolina Yoshida, Masao Koida, Kiyokazu Ogita, Toshihisa Komori

J Cell Biol. 2004 Jul 5; 166(1): 85–95. doi: 10.1083/jcb.200401138

PMCID:: PMC2172136

Abstract Article PDF–2.8M

Select item 214838810.

Runx2 deficiency and defective subnuclear targeting bypass senescence to promote immortalization and tumorigenic potential

Sayyed K. Zaidi, Sandhya Pande, Jitesh Pratap, Tripti Gaur, Simina Grigoriu, Syed A. Ali, Janet L. Stein, Jane B. Lian, Andre J. van Wijnen, Gary S. Stein

Proc Natl Acad Sci U S A. 2007 Dec 11; 104(50): 19861–19866. Published online 2007 Dec 5. doi: 10.1073/pnas.0709650104

PMCID:: PMC2148388

Abstract Article PDF–708K

Select item 180555811.

Mitotic retention of gene expression patterns by the cell fate-determining transcription factor Runx2

Daniel W. Young, Mohammad Q. Hassan, Xiao-Qing Yang, Mario Galindo, Amjad Javed, Sayyed K. Zaidi, Paul Furcinitti, David Lapointe, Martin Montecino, Jane B. Lian, Janet L. Stein, Andre J. van Wijnen, Gary S. Stein

Proc Natl Acad Sci U S A. 2007 Feb 27; 104(9): 3189–3194. Published online 2007 Feb 20. doi: 10.1073/pnas.0611419104

PMCID:: PMC1805558

Abstract Article PDF–1.6M

Select item 128827912.

Mutation Analysis of Core Binding Factor A1 in Patients with Cleidocranial Dysplasia

I. Quack, B. Vonderstrass, M. Stock, A. S. Aylsworth, A. Becker, L. Brueton, P. J. Lee, F. Majewski, J. B. Mulliken, M. Suri, M. Zenker, S. Mundlos, F. Otto

Am J Hum Genet. 1999 Nov; 65(5): 1268–1278. Published online 1999 Oct 8. doi: 10.1086/302622

PMCID:: PMC1288279

Abstract Article PDF–863K

Select item 122453213.

Dysregulation of Chondrogenesis in Human Cleidocranial Dysplasia

Qiping Zheng, Eiman Sebald, Guang Zhou, Yuqing Chen, William Wilcox, Brendan Lee, Deborah Krakow

Am J Hum Genet. 2005 Aug; 77(2): 305–312. Published online 2005 Jun 10. doi: 10.1086/432261

PMCID:: PMC1224532

Abstract Article PDF–1.6M

Select item 51787314.

Dlx3 Transcriptional Regulation of Osteoblast Differentiation: Temporal Recruitment of Msx2, Dlx3, and Dlx5 Homeodomain Proteins to Chromatin of the Osteocalcin Gene

Mohammad Q. Hassan, Amjad Javed, Maria I. Morasso, Jeremy Karlin, Martin Montecino, Andre J. van Wijnen, Gary S. Stein, Janet L. Stein, Jane B. Lian

Mol Cell Biol. 2004 Oct; 24(20): 9248–9261. doi: 10.1128/MCB.24.20.9248-9261.2004

PMCID:: PMC517873

Abstract Article PDF–587K

Select item 39585315.

Runx2 and Runx3 are essential for chondrocyte maturation, and Runx2 regulates limb growth through induction of Indian hedgehog

Carolina A. Yoshida, Hiromitsu Yamamoto, Takashi Fujita, Tatsuya Furuichi, Kosei Ito, Ken-ichi Inoue, Kei Yamana, Akira Zanma, Kenji Takada, Yoshiaki Ito, Toshihisa Komori

Genes Dev. 2004 Apr 15; 18(8): 952–963. doi: 10.1101/gad.1174704