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Items: 1 to 20 of 145

1.

A Runx2 threshold for the cleidocranial dysplasia phenotype.

Lou Y, Javed A, Hussain S, Colby J, Frederick D, Pratap J, Xie R, Gaur T, van Wijnen AJ, Jones SN, Stein GS, Lian JB, Stein JL.

Hum Mol Genet. 2009 Feb 1;18(3):556-68. doi: 10.1093/hmg/ddn383. Epub 2008 Nov 20.

2.

Cbfβ deletion in mice recapitulates cleidocranial dysplasia and reveals multiple functions of Cbfβ required for skeletal development.

Chen W, Ma J, Zhu G, Jules J, Wu M, McConnell M, Tian F, Paulson C, Zhou X, Wang L, Li YP.

Proc Natl Acad Sci U S A. 2014 Jun 10;111(23):8482-7. doi: 10.1073/pnas.1310617111. Epub 2014 May 21.

3.

Nell-1, a key functional mediator of Runx2, partially rescues calvarial defects in Runx2(+/-) mice.

Zhang X, Ting K, Bessette CM, Culiat CT, Sung SJ, Lee H, Chen F, Shen J, Wang JJ, Kuroda S, Soo C.

J Bone Miner Res. 2011 Apr;26(4):777-91. doi: 10.1002/jbmr.267.

4.

Loss of Tbx1 induces bone phenotypes similar to cleidocranial dysplasia.

Funato N, Nakamura M, Richardson JA, Srivastava D, Yanagisawa H.

Hum Mol Genet. 2015 Jan 15;24(2):424-35. doi: 10.1093/hmg/ddu458. Epub 2014 Sep 10.

PMID:
25209980
5.

Runx2 is required for early stages of endochondral bone formation but delays final stages of bone repair in Axin2-deficient mice.

McGee-Lawrence ME, Carpio LR, Bradley EW, Dudakovic A, Lian JB, van Wijnen AJ, Kakar S, Hsu W, Westendorf JJ.

Bone. 2014 Sep;66:277-86. doi: 10.1016/j.bone.2014.06.022. Epub 2014 Jun 25.

6.

Functional analysis of RUNX2 mutations in Japanese patients with cleidocranial dysplasia demonstrates novel genotype-phenotype correlations.

Yoshida T, Kanegane H, Osato M, Yanagida M, Miyawaki T, Ito Y, Shigesada K.

Am J Hum Genet. 2002 Oct;71(4):724-38. Epub 2002 Aug 26.

7.

Mouse clavicular development: analysis of wild-type and cleidocranial dysplasia mutant mice.

Huang LF, Fukai N, Selby PB, Olsen BR, Mundlos S.

Dev Dyn. 1997 Sep;210(1):33-40.

8.

A limb-girdle myopathy phenotype of RUNX2 mutation in a patient with cleidocranial dysplasia: a case study and literature review.

Hsueh SJ, Lee NC, Yang SH, Lin HI, Lin CH.

BMC Neurol. 2017 Jan 6;17(1):2. doi: 10.1186/s12883-016-0781-2. Review.

9.

A novel mutation of gene CBFA1/RUNX2 in cleidocranial dysplasia.

Lo Muzio L, Tetè S, Mastrangelo F, Cazzolla AP, Lacaita MG, Margaglione M, Campisi G.

Ann Clin Lab Sci. 2007 Spring;37(2):115-20.

PMID:
17522365
10.

Pin1-mediated Runx2 modification is critical for skeletal development.

Yoon WJ, Islam R, Cho YD, Woo KM, Baek JH, Uchida T, Komori T, van Wijnen A, Stein JL, Lian JB, Stein GS, Choi JY, Bae SC, Ryoo HM.

J Cell Physiol. 2013 Dec;228(12):2377-85. doi: 10.1002/jcp.24403.

11.

Cbfa1, a candidate gene for cleidocranial dysplasia syndrome, is essential for osteoblast differentiation and bone development.

Otto F, Thornell AP, Crompton T, Denzel A, Gilmour KC, Rosewell IR, Stamp GW, Beddington RS, Mundlos S, Olsen BR, Selby PB, Owen MJ.

Cell. 1997 May 30;89(5):765-71.

12.

Cleidocranial dysplasia and RUNX2-clinical phenotype-genotype correlation.

Jaruga A, Hordyjewska E, Kandzierski G, Tylzanowski P.

Clin Genet. 2016 Nov;90(5):393-402. doi: 10.1111/cge.12812. Epub 2016 Jun 30. Review.

PMID:
27272193
13.

Prospective signs of cleidocranial dysplasia in Cebpb deficiency.

Huang B, Takahashi K, Jennings EA, Pumtang-On P, Kiso H, Togo Y, Saito K, Sugai M, Akira S, Shimizu A, Bessho K.

J Biomed Sci. 2014 May 13;21:44. doi: 10.1186/1423-0127-21-44.

14.

Expression of RUNX2 and its signaling partners TCF7, FGFR1/2 in cleidocranial dysplasia.

Pawłowska E, Wójcik KA, Synowiec E, Szczepańska J, Błasiak J.

Acta Biochim Pol. 2015;62(1):123-6. Epub 2015 Mar 5.

15.

Familial cleidocranial dysplasia misdiagnosed as rickets over three generations.

Franceschi R, Maines E, Fedrizzi M, Piemontese MR, De Bonis P, Agarwal N, Bellizzi M, Di Palma A.

Pediatr Int. 2015 Oct;57(5):1003-6. doi: 10.1111/ped.12692. Epub 2015 Aug 19.

PMID:
26286462
16.

Novel RUNX2 mutations in Chinese individuals with cleidocranial dysplasia.

Zhang CY, Zheng SG, Wang YX, Zhu JX, Zhu X, Zhao YM, Ge LH.

J Dent Res. 2009 Sep;88(9):861-6. doi: 10.1177/0022034509342083.

PMID:
19767586
17.

The effect of the cleidocranial dysplasia-related novel 1116_1119insC mutation in the RUNX2 gene on the biological function of mesenchymal cells.

Ding B, Li C, Xuan K, Liu N, Tang L, Liu Y, Guo W, Liu W, Jin Y.

Eur J Med Genet. 2013 Apr;56(4):180-7. doi: 10.1016/j.ejmg.2013.01.009. Epub 2013 Jan 31.

PMID:
23376464
18.

Dysregulation of chondrogenesis in human cleidocranial dysplasia.

Zheng Q, Sebald E, Zhou G, Chen Y, Wilcox W, Lee B, Krakow D.

Am J Hum Genet. 2005 Aug;77(2):305-12. Epub 2005 Jun 10.

19.

A novel RUNX2 mutation in cleidocranial dysplasia patients.

Xuan D, Li S, Zhang X, Lin L, Wang C, Zhang J.

Biochem Genet. 2008 Dec;46(11-12):702-7. doi: 10.1007/s10528-008-9184-4. Epub 2008 Sep 6.

PMID:
18777095
20.

Four novel RUNX2 mutations including a splice donor site result in the cleidocranial dysplasia phenotype.

Kim HJ, Nam SH, Kim HJ, Park HS, Ryoo HM, Kim SY, Cho TJ, Kim SG, Bae SC, Kim IS, Stein JL, van Wijnen AJ, Stein GS, Lian JB, Choi JY.

J Cell Physiol. 2006 Apr;207(1):114-22.

PMID:
16270353

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