Functional Analysis of RUNX2 Mutations in Japanese Patients with Cleidocranial Dysplasia Demonstrates Novel Genotype-Phenotype Correlations
- 1 October 2002
- journal article
- Published by Elsevier BV in American Journal of Human Genetics
- Vol. 71 (4), 724-738
- https://doi.org/10.1086/342717
Abstract
No abstract availableKeywords
Funding Information
- Ministry of Education, Culture, Sports, Science and Technology
This publication has 66 references indexed in Scilit:
- Core-binding factor β interacts with Runx2 and is required for skeletal developmentNature Genetics, 2002
- In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of pathogenesisBlood, 2002
- Functional mutagenesis of AML1/RUNX1 and PEBP2β/CBFβ define distinct, non-overlapping sites for DNA recognition and heterodimerization by the runt domainJournal of Molecular Biology, 2001
- Structural Analyses of DNA Recognition by the AML1/Runx-1 Runt Domain and Its Allosteric Control by CBFβCell, 2001
- Missense mutations abolishing DNA binding of the osteoblast-specific transcription factor OSF2/CBFA1 in cleidocranial dysplasiaNature Genetics, 1997
- Unfavorable effects of growth hormone therapy on the final height of boys with short stature not caused by growth hormone deficiencyThe Journal of Pediatrics, 1997
- AML1, the Target of Multiple Chromosomal Translocations in Human Leukemia, Is Essential for Normal Fetal Liver HematopoiesisCell, 1996
- The Tissue-Specific Nuclear Matrix Protein, NMP-2, Is a Member of the AML/PEBP2/Runt Domain Transcription Factor Family: Interactions with the Osteocalcin Gene PromoterBiochemistry, 1995
- Dental treatment strategies in cleidocranial dysplasiaBritish Dental Journal, 1992
- Somatic development in cleidocranial dysplasiaAmerican Journal of Medical Genetics, 1990