Publications:

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Enhanced osteopontin splicing regulated by RUNX2 is HDAC-dependent and induces invasive phenotypes in NSCLC cells.

Cancer Cell International

Huang, Jing J; Chang, Siyuan S; Lu, Yabin Y; Wang, Jing J; Si, Yang Y; Zhang, Lijian L; Cheng, Shan S; Jiang, Wen G WG

Publication Date: 2019

Variant appearance in text: RUNX2: R131G

PubMed Link: 31832019

Variant Present in the following documents:

• Main text

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Identification of a novel mutation of RUNX2 in a family with supernumerary teeth and craniofacial dysplasia by whole-exome sequencing: A case report and literature review.

Medicine

Ma, Dan D; Wang, Xuxia X; Guo, Jun J; Zhang, Jun J; Cai, Tao T

Publication Date: 2018-08

Variant appearance in text: RUNX2: 391C>G

PubMed Link: 30095610

Variant Present in the following documents:

View BVdb publication page

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Novel Mutation of the RUNX2 Gene in Patients with Cleidocranial Dysplasia.

Molecular Syndromology

Hordyjewska, Ewa E; Jaruga, Anna A; Kandzierski, Grzegorz G; Tylzanowski, Przemko P

Publication Date: 2017-08

Variant appearance in text: RUNX2: 391C>G

PubMed Link: 28878609

Variant Present in the following documents:

• Main text

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: RUNX2: R131G

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

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Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics

Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z

Publication Date: 2013

Variant appearance in text: RUNX2: R131G

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 1

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A new phenotypic variant in cleidocranial dysplasia (CCD) associated with mutation c.391C>T of the RUNX2 gene.

Bmj Case Reports

Callea, Michele M; Fattori, Fabiana F; Yavuz, Izzet I; Bertini, Enrico E

Publication Date: 2012-12-05

Variant appearance in text: CCD: R131G

PubMed Link: 23220435

Variant Present in the following documents:

• Main text

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

Journal Of Cellular Biochemistry

Han, Min-Su MS; Kim, Hyo-Jin HJ; Wee, Hee-Jun HJ; Lim, Kyung-Eun KE; Park, Na-Rae NR; Bae, Suk-Chul SC; van Wijnen, Andre J AJ; Stein, Janet L JL; Lian, Jane B JB; Stein, Gary S GS; Choi, Je-Yong JY

Publication Date: 2010-05

Variant appearance in text: RUNX2: R131G

PubMed Link: 20225274

Variant Present in the following documents:

• Main text

View BVdb publication page

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