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Items: 1 to 20 of 112

1.

The cleidocranial dysplasia-related R131G mutation in the Runt-related transcription factor RUNX2 disrupts binding to DNA but not CBF-beta.

Han MS, Kim HJ, Wee HJ, Lim KE, Park NR, Bae SC, van Wijnen AJ, Stein JL, Lian JB, Stein GS, Choi JY.

J Cell Biochem. 2010 May;110(1):97-103. doi: 10.1002/jcb.22516.

2.

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
3.

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
5.

A novel in-frame deletion of the RUNX2 gene causes a classic form of cleidocranial dysplasia.

Matsushita M, Kitoh H, Kaneko H, Mishima K, Itoh Y, Tokita Y, Ishiguro N.

J Bone Miner Metab. 2014 Jan;32(1):96-9. doi: 10.1007/s00774-013-0456-7. Epub 2013 Apr 5.

PMID:
23558979
6.

Functional analysis of a novel RUNX2 missense mutation found in a family with cleidocranial dysplasia.

Puppin C, Pellizzari L, Fabbro D, Fogolari F, Tell G, Tessa A, Santorelli FM, Damante G.

J Hum Genet. 2005;50(12):679-83. Epub 2005 Oct 22.

PMID:
16244783
7.

Mutations in the RUNX2 gene in Chinese patients with cleidocranial dysplasia.

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

Ann Clin Lab Sci. 2008 Winter;38(1):15-24.

PMID:
18316777
8.

Disease mutations in RUNX1 and RUNX2 create nonfunctional, dominant-negative, or hypomorphic alleles.

Matheny CJ, Speck ME, Cushing PR, Zhou Y, Corpora T, Regan M, Newman M, Roudaia L, Speck CL, Gu TL, Griffey SM, Bushweller JH, Speck NA.

EMBO J. 2007 Feb 21;26(4):1163-75. Epub 2007 Feb 8.

9.

Novel Mutation of Cleidocranial Dysplasia-related Frameshift Runt-related Transcription Factor 2 in a Sporadic Chinese Case.

Qin XY, Jia PZ, Zhao HX, Li WR, Chen F, Lin JX.

Chin Med J (Engl). 2017 Jan 20;130(2):165-170. doi: 10.4103/0366-6999.197996.

10.

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.

11.

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
12.

A RUNX2/PEBP2alpha A/CBFA1 mutation displaying impaired transactivation and Smad interaction in cleidocranial dysplasia.

Zhang YW, Yasui N, Ito K, Huang G, Fujii M, Hanai J, Nogami H, Ochi T, Miyazono K, Ito Y.

Proc Natl Acad Sci U S A. 2000 Sep 12;97(19):10549-54.

13.

Cleidocranial dysplasia with severe parietal bone dysplasia: C-terminal RUNX2 mutations.

Cunningham ML, Seto ML, Hing AV, Bull MJ, Hopkin RJ, Leppig KA.

Birth Defects Res A Clin Mol Teratol. 2006 Feb;76(2):78-85. Review.

PMID:
16463420
14.

Novel RUNX2 frameshift mutations in Chinese patients with cleidocranial dysplasia.

Huang Y, Song Y, Zhang C, Chen G, Wang S, Bian Z.

Eur J Oral Sci. 2013 Jun;121(3 Pt 1):142-7. doi: 10.1111/eos.12048. Epub 2013 Apr 25.

PMID:
23659235
15.

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.

16.

Glutamine repeat variants in human RUNX2 associated with decreased femoral neck BMD, broadband ultrasound attenuation and target gene transactivation.

Morrison NA, Stephens AA, Osato M, Polly P, Tan TC, Yamashita N, Doecke JD, Pasco J, Fozzard N, Jones G, Ralston SH, Sambrook PN, Prince RL, Nicholson GC.

PLoS One. 2012;7(8):e42617. doi: 10.1371/journal.pone.0042617. Epub 2012 Aug 13.

17.

A novel mutation in the C-terminal region of RUNX2/CBFA1 distal to the DNA-binding runt domain in a Japanese patient with cleidocranial dysplasia.

Kamamoto M, Machida J, Miyachi H, Ono T, Nakayama A, Shimozato K, Tokita Y.

Int J Oral Maxillofac Surg. 2011 Apr;40(4):434-7. doi: 10.1016/j.ijom.2010.09.025. Epub 2010 Nov 5.

PMID:
21115325
18.

RUNX2 analysis of Danish cleidocranial dysplasia families.

Hansen L, Riis AK, Silahtaroglu A, Hove H, Lauridsen E, Eiberg H, Kreiborg S.

Clin Genet. 2011 Mar;79(3):254-63. doi: 10.1111/j.1399-0004.2010.01458.x.

PMID:
20560987
19.

Functional analysis of RUNX2 mutations in cleidocranial dysplasia: novel insights into genotype-phenotype correlations.

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

Blood Cells Mol Dis. 2003 Mar-Apr;30(2):184-93.

PMID:
12732182
20.

PEBP2alphaA/CBFA1 mutations in Japanese cleidocranial dysplasia patients.

Zhang YW, Yasui N, Kakazu N, Abe T, Takada K, Imai S, Sato M, Nomura S, Ochi T, Okuzumi S, Nogami H, Nagai T, Ohashi H, Ito Y.

Gene. 2000 Feb 22;244(1-2):21-8.

PMID:
10689183

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