Functional analysis of novel RUNX2 mutations identified in patients with cleidocranial dysplasia-Reference-Cited by-同舟云学术

Functional analysis of novel RUNX2 mutations identified in patients with cleidocranial dysplasia

Published:2019-07-31 Issue:5 Volume:96 Page:429-438
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Hordyjewska‐Kowalczyk Ewa¹²^ORCID,Sowińska‐Seidler Anna³,Olech Ewelina M.³^ORCID,Socha Magdalena³,Glazar Renata⁴,Kruczek Anna⁵,Latos‐Bieleńska Anna³,Tylzanowski Przemko¹⁶,Jamsheer Aleksander³

Affiliation:

1. Department of Biochemistry and Molecular BiologyMedical University Lublin Poland

2. The Postgraduate School of Molecular MedicineMedical University of Warsaw Warsaw Poland

3. Department of Medical GeneticsPoznan University of Medical Sciences Poznań Poland

4. Centers for Medical Genetics GENESIS Poznań Poland

5. Genetic Counseling Unit Kostyk and Kruczek Kraków Poland

6. Laboratory for Developmental and Stem Cell Biology, Department of Development and RegenerationSkeletal Biology and Engineering Research Centre, University of Leuven Leuven Belgium

Funder

Narodowe Centrum Badań i Rozwoju

Narodowe Centrum Nauki

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13610

Reference46 articles.

1. Missense mutations abolishing DNA binding of the osteoblast-specific transcription factor OSF2/CBFA1 in cleidocranial dysplasia

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

3. Mutations Involving the Transcription Factor CBFA1 Cause Cleidocranial Dysplasia

4. Cleidocranial dysplasia and RUNX2-clinical phenotype-genotype correlation

5. Histological observations of teeth and peridental tissues in cleidocranial dysplasia imply increased activity of odontogenic epithelium and abnormal bone remodeling;Lukinmaa PL;J Craniofac Genet Dev Biol,1995

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