Identification of novel CBFA1/RUNX2 mutations causing cleidocranial dysplasia
Bergwitz C, Prochnau A, Mayr B, Kramer F, Rittierodt M, Berten H, Hausamen J, Brabant G. Identification of novel CBFA1/RUNX2 mutations causing cleidocranial dysplasia. Journal Of Inherited Metabolic Disease 2001, 24: 648-656. PMID: 11768584, DOI: 10.1023/a:1012758925617.Peer-Reviewed Original ResearchConceptsCleidocranial dysplasiaPatient's leukocyte DNADelayed tooth eruptionBsmI restriction siteHealthy family membersRUNX2 mutationAberrant amino acidsClavicular dysplasiaPatent fontanelsCore-binding factor a1Haplotype insufficiencyTooth budsTooth eruptionShort statureBone densityLeukocyte DNAIncreased riskGrowth retardationRestriction sitesDistal phalanxNucleotide changesDysplasiaPremature stopFrameshift mutationHealthy membersWnts differentially regulate colony growth and differentiation of chondrogenic rat calvaria cells
Bergwitz C, Wendlandt T, Kispert A, Brabant G. Wnts differentially regulate colony growth and differentiation of chondrogenic rat calvaria cells. Biochimica Et Biophysica Acta 2001, 1538: 129-140. PMID: 11336784, DOI: 10.1016/s0167-4889(00)00123-3.Peer-Reviewed Original ResearchConceptsChondrogenic cell lineReporter gene expressionWnt effectsGene expressionCell linesWnt-7aChondrogenic differentiationWnt-5aGreen fluorescence proteinProtein kinase C.Protein kinase CFrizzled-related proteinsCollagen type II promoterLimb patterningSignal transductionEmbryonic developmentRat calvaria cellsWnt familyType II promoterNIH3T3 cellsReporter systemCartilage-specific proteoglycansFluorescence proteinCartilage differentiationKinase C.