CBFA1 Mutation Analysis and Functional Correlation with Phenotypic Variability in Cleidocranial Dysplasia

scientific article published on 01 November 1999

CBFA1 Mutation Analysis and Functional Correlation with Phenotypic Variability in Cleidocranial Dysplasia is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1093/HMG/8.12.2311
P698PubMed publication ID10545612

P50authorSusan A. BerryQ37838250
P2093author name stringG Zhou
B Lee
D Chitayat
Y Chen
L Zhou
S Pirinen
C R Greenberg
B D Gelb
G Karsenty
J Hecht
K Thirunavukkarasu
P433issue12
P921main subjectcleidocranial dysplasiaQ781618
P304page(s)2311-2316
P577publication date1999-11-01
P1433published inHuman Molecular GeneticsQ2720965
P1476titleCBFA1 mutation analysis and functional correlation with phenotypic variability in cleidocranial dysplasia
P478volume8

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cites work (P2860)
Q37090039A Runx2 threshold for the cleidocranial dysplasia phenotype
Q50489481A natural history of cleidocranial dysplasia.
Q33312873A novel RUNX2 missense mutation predicted to disrupt DNA binding causes cleidocranial dysplasia in a large Chinese family with hyperplastic nails
Q45276711A novel in-frame deletion of the RUNX2 gene causes a classic form of cleidocranial dysplasia
Q33802810A novel small deletion mutation in RUNX2 gene in one Chinese family with cleidocranial dysplasia
Q40489175Analysis of novel RUNX2 mutations in Chinese patients with cleidocranial dysplasia.
Q28314719Atypical expression of cleidocranial dysplasia: clinical and molecular-genetic analysis
Q48230925Calvarial bone development and suture closure in Dicer-deficient mice
Q28509530Causal relationship between the loss of RUNX3 expression and gastric cancer
Q28586662Cbfbeta interacts with Runx2 and has a critical role in bone development
Q34021053Characterization of a new syndrome that associates craniosynostosis, delayed fontanel closure, parietal foramina, imperforate anus, and skin eruption: CDAGS.
Q58008676Chloride binding by the AML1/Runx1 transcription factor studied by NMR
Q34159998Cleidocranial dysplasia
Q45931410Cleidocranial dysplasia syndrome (CCD) with an unusual finding in a young patient.
Q42880373Cleidocranial dysplasia syndrome: clinical characteristics and mutation study of a Chinese family
Q36321287Cleidocranial dysplasia: a rare cause of disproportionate severe short stature
Q77067494Common mutations and independent assortment of CCD
Q84083677Common polymorphisms rather than rare genetic variants of the Runx2 gene are associated with femoral neck BMD in Spanish women
Q35686477Cone-beam computed tomography: An inevitable investigation in cleidocranial dysplasia
Q53252888Core binding factor β of osteoblasts maintains cortical bone mass via stabilization of Runx2 in mice.
Q42840092Correlation between genotype and supernumerary tooth formation in cleidocranial dysplasia
Q27639779DNA recognition by the RUNX1 transcription factor is mediated by an allosteric transition in the RUNT domain and by DNA bending
Q51966876De novo three-way chromosome translocation 46,XY,t(4;6;21)(p16;p21.1;q21) in a male with cleidocranial dysplasia.
Q30443541Disease mutations in RUNX1 and RUNX2 create nonfunctional, dominant-negative, or hypomorphic alleles.
Q35539737Dominance of SOX9 function over RUNX2 during skeletogenesis
Q34015442Dysregulation of chondrogenesis in human cleidocranial dysplasia
Q35737205Ectopic expression of SOX9 in osteoblasts alters bone mechanical properties.
Q44478788Energetic contribution of residues in the Runx1 Runt domain to DNA binding.
Q24292735Evidence for haploinsufficiency of the human HNF1alpha gene revealed by functional characterization of MODY3-associated mutations
Q37202869Functional analysis of RUNX2 mutations in Japanese patients with cleidocranial dysplasia demonstrates novel genotype-phenotype correlations
Q53862836Functional analysis of RUNX2 mutations in cleidocranial dysplasia: novel insights into genotype–phenotype correlations
Q46770314Functional analysis of a novel RUNX2 missense mutation found in a family with cleidocranial dysplasia
Q36558882Generation of cleidocranial dysplasia-specific human induced pluripotent stem cells in completely serum-, feeder-, and integration-free culture
Q36291161Identification and characterization of the novel Col10a1 regulatory mechanism during chondrocyte hypertrophic differentiation
Q90244304Identification of RUNX2 variants associated with cleidocranial dysplasia
Q33341337Identification of a new pebp2alphaA2 isoform from zebrafish runx2 capable of inducing osteocalcin gene expression in vitro.
Q104576050Identification of a novel RUNX2 gene mutation and early diagnosis of CCD in a cleidocranial dysplasia suspected Iranian family
Q77425768Identification of novel CBFA1/RUNX2 mutations causing cleidocranial dysplasia
Q36843000Intragenic microdeletion of RUNX2 is a novel mechanism for cleidocranial dysplasia
Q37195995Localization of the cis-enhancer element for mouse type X collagen expression in hypertrophic chondrocytes in vivo.
Q34147546Loss of jab1 in osteochondral progenitor cells severely impairs embryonic limb development in mice
Q42689082MESENCHYMAL STROMAL CELLS AND THEIR ORTHOPAEDIC APPLICATIONS.
Q35652284Mitotic retention of gene expression patterns by the cell fate-determining transcription factor Runx2.
Q35283051Molecular genetics of supernumerary tooth formation
Q47248157Mutant Runx2 regulates amelogenesis and osteogenesis through a miR-185-5p-Dlx2 axis
Q28202887Mutations in the RUNX2 gene in patients with cleidocranial dysplasia
Q48296544New mutations in the CBFA1 gene in two Mexican patients with cleidocranial dysplasia
Q47708056Novel Mutation of the RUNX2 Gene in Patients with Cleidocranial Dysplasia.
Q41980849Osteoclastogenic potential of peripheral blood mononuclear cells in cleidocranial dysplasia
Q35779731Point mutations in the RUNX1/AML1 gene: another actor in RUNX leukemia
Q37592911Post-translational Regulation of Runx2 in Bone and Cartilage
Q37325296RUNX2 mutations in Chinese patients with cleidocranial dysplasia.
Q28334414RUNX2 tandem repeats and the evolution of facial length in placental mammals
Q37720402RUNX3 is multifunctional in carcinogenesis of multiple solid tumors
Q35569321Runx2 contributes to murine Col10a1 gene regulation through direct interaction with its cis-enhancer
Q36635990Runx2 protein represses Axin2 expression in osteoblasts and is required for craniosynostosis in Axin2-deficient mice
Q59796207Schädelanomalien bei Dysostosis cleidocranialis
Q34333682Selective Runx2-II deficiency leads to low-turnover osteopenia in adult mice
Q35121727Structural and functional characterization of Runx1, CBF beta, and CBF beta-SMMHC.
Q22254263Structural basis for the heterodimeric interaction between the acute leukaemia-associated transcription factors AML1 and CBFbeta
Q51736628Surgical Management and Evaluation of the Craniofacial Growth and Morphology in Cleidocranial Dysplasia.
Q44728270TEL-AML1 preleukemic activity requires the DNA binding domain of AML1 and the dimerization and corepressor binding domains of TEL.
Q24306231The RUNX1 Runt domain at 1.25A resolution: a structural switch and specifically bound chloride ions modulate DNA binding
Q35068916The cleidocranial dysplasia-related R131G mutation in the Runt-related transcription factor RUNX2 disrupts binding to DNA but not CBF-beta
Q28590530The core-binding factor beta subunit is required for bone formation and hematopoietic maturation
Q42463915The role of periodontal ligament cells in delayed tooth eruption in patients with cleidocranial dysostosis
Q34448188The role of the AML1 transcription factor in leukemogenesis
Q36702566The transcriptional co-regulator Jab1 is crucial for chondrocyte differentiation in vivo
Q33732988Transcriptional corepressor TLE1 functions with Runx2 in epigenetic repression of ribosomal RNA genes
Q28578731Transforming growth factor-beta3 (Tgf-beta3) down-regulates Tgf-beta3 receptor type I (Tbetar-I) during rescue of cranial sutures from osseous obliteration
Q36323301Type X collagen gene regulation by Runx2 contributes directly to its hypertrophic chondrocyte-specific expression in vivo
Q37262646Uncoupling of chondrocyte differentiation and perichondrial mineralization underlies the skeletal dysplasia in tricho-rhino-phalangeal syndrome.
Q35779139Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders
Q37479281Williams-Beuren syndrome-associated transcription factor TFII-I regulates osteogenic marker genes
Q54575578[Cleidocranial dysplasia. Description and analysis of a patient cohort].
Q36631181p204 protein overcomes the inhibition of core binding factor alpha-1-mediated osteogenic differentiation by Id helix-loop-helix proteins.

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