Functional analysis of a novel RUNX2 missense mutation found in a family with cleidocranial dysplasia

scientific article published on 22 October 2005

Functional analysis of a novel RUNX2 missense mutation found in a family with cleidocranial dysplasia is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1007/S10038-005-0311-3
P698PubMed publication ID16244783
P5875ResearchGate publication ID7521431

P50authorGianluca TellQ39599984
Federico FogolariQ56950515
Filippo Maria SantorelliQ60541206
P2093author name stringGiuseppe Damante
Cinzia Puppin
Dora Fabbro
Lucia Pellizzari
Alessanda Tessa
P2860cites workThyroid-specific transcription factors control Hex promoter activityQ24298404
The RUNX1 Runt domain at 1.25A resolution: a structural switch and specifically bound chloride ions modulate DNA bindingQ24306231
Structural analyses of DNA recognition by the AML1/Runx-1 Runt domain and its allosteric control by CBFbetaQ27630690
The leukemia-associated AML1 (Runx1)--CBF beta complex functions as a DNA-induced molecular clampQ27630870
Mutations in the RUNX2 gene in patients with cleidocranial dysplasiaQ28202887
Osf2/Cbfa1: a transcriptional activator of osteoblast differentiationQ28240596
Cleidocranial dysplasia: clinical and molecular geneticsQ33594812
Mutation analysis of core binding factor A1 in patients with cleidocranial dysplasiaQ34145893
A Cbfa1-dependent genetic pathway controls bone formation beyond embryonic developmentQ35194624
Functional analysis of RUNX2 mutations in Japanese patients with cleidocranial dysplasia demonstrates novel genotype-phenotype correlationsQ37202869
A molecular code dictates sequence-specific DNA recognition by homeodomains.Q41077251
Missense mutations abolishing DNA binding of the osteoblast-specific transcription factor OSF2/CBFA1 in cleidocranial dysplasia.Q45345530
Six novel mutations of the RUNX2 gene in Italian patients with cleidocranial dysplasia.Q47818854
Negative effect of the transcriptional activator GAL4Q59072863
MM/PBSA analysis of molecular dynamics simulations of bovine β-lactoglobulin: Free energy gradients in conformational transitions?Q60218560
CBFA1 Mutation Analysis and Functional Correlation with Phenotypic Variability in Cleidocranial DysplasiaQ61585306
Using multiple structure alignments, fast model building, and energetic analysis in fold recognition and homology modelingQ79210002
P433issue12
P304page(s)679-683
P577publication date2005-10-22
P1433published inJournal of Human GeneticsQ6295302
P1476titleFunctional analysis of a novel RUNX2 missense mutation found in a family with cleidocranial dysplasia
P478volume50

Reverse relations

cites work (P2860)
Q33802810A novel small deletion mutation in RUNX2 gene in one Chinese family with cleidocranial dysplasia
Q33337136BRCA1 and BRCA2 missense variants of high and low clinical significance influence lymphoblastoid cell line post-irradiation gene expression
Q35762267Glucose Uptake and Runx2 Synergize to Orchestrate Osteoblast Differentiation and Bone Formation
Q90244304Identification of RUNX2 variants associated with cleidocranial dysplasia
Q39797180Novel RUNX2 mutations in Chinese individuals with cleidocranial dysplasia
Q37325296RUNX2 mutations in Chinese patients with cleidocranial dysplasia.
Q35068916The cleidocranial dysplasia-related R131G mutation in the Runt-related transcription factor RUNX2 disrupts binding to DNA but not CBF-beta
Q90623722Three-dimensional evaluation of morphology and position of impacted supernumerary teeth in cases of cleidocranial dysplasia

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