NovelRUNX2frameshift mutations in Chinese patients with cleidocranial dysplasia-Reference-Cited by-同舟云学术

NovelRUNX2frameshift mutations in Chinese patients with cleidocranial dysplasia

Published:2013-04-25 Issue:3pt1 Volume:121 Page:142-147
ISSN:0909-8836
Container-title:European Journal of Oral Sciences
language:en
Short-container-title:Eur J Oral Sci

Author:

Huang Yanyu¹,Song Yaling¹,Zhang Chenzheng¹,Chen Guoxin²,Wang Shihua³,Bian Zhuan¹

Affiliation:

1. The State Key Laboratory Breeding Base of Basic Science of Stomatology (Hubei-MOST) & Key Laboratory of Oral Biomedicine Ministry of Education; School & Hospital of Stomatology; Wuhan University; Wuhan China

2. Department of Orthodontics; Hubei-MOST KLOS & KLOBM; School and Hospital of Stomatology; Wuhan University; Wuhan China

3. Department of Stomatology; People's Hospital of Shayang; Jingmen China

Publisher

Wiley

Subject

General Dentistry

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/eos.12048/fullpdf

Reference19 articles.

1. Cleidocranial dysplasia: clinical and molecular genetics;Mundlos;J Med Genet,1999

2. Mutation analysis of core binding factor A1 in patients with cleidocranial dysplasia;Quack;Am J Hum Genet,1999

3. Missense mutations abolishing DNA binding of the osteoblast-specific transcription factor OSF2/CBFA1 in cleidocranial dysplasia;Lee;Nat Genet,1997

4. Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia;Mundlos;Cell,1997

5. The cDNA cloning of the transcripts of human PEBP2alphaA/CBFA1 mapped to 6p12.3-p21.1, the locus for cleidocranial dysplasia;Zhang;Oncogene,1997

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1. Functional consequences of C-terminal mutations in RUNX2;Scientific Reports;2023-07-27

2. Identification a novel de novo RUNX2 frameshift mutation associated with cleidocranial dysplasia;Genes & Genomics;2022-03-02

3. Functional analysis of novel RUNX2 mutations identified in patients with cleidocranial dysplasia;Clinical Genetics;2019-07-31

4. A novel RUNX2 mutation in exon 8, G462X, in a patient with Cleidocranial Dysplasia;Journal of Cellular Biochemistry;2017-08-23

5. Novel Mutation of the RUNX2 Gene in Patients with Cleidocranial Dysplasia;Molecular Syndromology;2017