Cleidocranial Dysplasia
Mostrando 1-10 de 10 artigos, teses e dissertações.
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1. RUNX2 mutations in Taiwanese patients with cleidocranial dysplasia
Cleidocranial dysplasia (CCD) is an autosomal dominant human skeletal disorder comprising hypoplastic clavicles, wide cranial sutures, supernumerary teeth, short stature, and other skeletal abnormalities. It is known that mutations in the human RUNX2 gene mapped at 6p21 are responsible for CCD. We analyzed the mutation patterns of the RUNX2 gene by direct se
Genetics and Molecular Biology. Publicado em: 25/03/2011
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2. Aspectos oclusais da displasia cleidocraniana : relato de um caso / Occlusal aspects of the cleidocranial dysplaisia: a case reported
Este trabalho tem por objetivo a revisão de literatura da DCC a partir de um caso tratado na disciplina de ortodontia da FO-UFRGS. A DCC é caracterizada por uma série de distúrbios que envolvem a dentição e também distúrbios sistêmicos. Entre os distúrbios da dentição ternos o retardo no desenvolvimento e na erupção dos dentes permanentes, pres
Publicado em: 2010
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3. Dysregulation of Chondrogenesis in Human Cleidocranial Dysplasia
Cleidocranial dysplasia (CCD) is an autosomal dominant skeletal dysplasia caused by heterozygosity of mutations in human RUNX2. The disorder is characterized by delayed closure of the fontanel and hypoplastic clavicles that result from defective intramembranous ossification. However, additional features, such as short stature and cone epiphyses, also suggest
The American Society of Human Genetics.
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4. RUNX2 mutations in Chinese patients with cleidocranial dysplasia
Cleidocranial dysplasia (CCD) is an autosomal dominant bone disease in humans caused by haploinsufficiency of the RUNX2 gene. The RUNX2 has two major isoforms derived from P1 and P2 promoters. Over 90 mutations of RUNX2 have been reported associated with CCD. In our study, DNA samples of nine individuals from three unrelated CCD families were collected and s
Oxford University Press.
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5. A RUNX2/PEBP2αA/CBFA1 mutation displaying impaired transactivation and Smad interaction in cleidocranial dysplasia
Cleidocranial dysplasia (CCD), an autosomal-dominant human bone disease, is thought to be caused by heterozygous mutations in runt-related gene 2 (RUNX2)/polyomavirus enhancer binding protein 2αA (PEBP2αA)/core-binding factor A1 (CBFA1). To understand the mechanism underlying the pathogenesis of CCD, we studied a novel mutant of RUNX2, CCDαA376, originall
The National Academy of Sciences.
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6. Functional Analysis of RUNX2 Mutations in Japanese Patients with Cleidocranial Dysplasia Demonstrates Novel Genotype-Phenotype Correlations
Cleidocranial dysplasia (CCD) is an autosomal dominant heritable skeletal disease caused by heterozygous mutations in the osteoblast-specific transcription factor RUNX2. We have performed mutational analysis of RUNX2 on 24 unrelated patients with CCD. In 17 patients, 16 distinct mutations were detected in the coding region of RUNX2: 4 frameshift, 3 nonsense,
The American Society of Human Genetics.
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7. Mapping of the gene for cleidocranial dysplasia in the historical Cape Town (Arnold) kindred and evidence for locus homogeneity.
Cleidocranial dysplasia (CCD) is an autosomal dominant disorder, features of which include a patient anterior fontanelle, a bulging calvarium, hypoplasia or aplasia of the clavicles, a wide public symphysis, dental anomalies, vertebral malformation, and short stature. The Cape Town kindred which is under our genetic management was originally described more t
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8. Structural basis for the heterodimeric interaction between the acute leukaemia-associated transcription factors AML1 and CBFβ
Mutations in the genes encoding the interacting proteins AML1 and CBFβ are the most common genetic abnormalities in acute leukaemia, and congenital mutations in the related AML3 gene are associated with disorders of osteogenesis. Furthermore, the interaction of AML1 with CBFβ is essential for haematopoiesis. We report the 2.6 Å resolution crystal struct
Oxford University Press.
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9. In vivo analysis of a developmental circuit for direct transcriptional activation and repression in the same cell by a Runx protein
Runx proteins have been implicated in acute myeloid leukemia, cleidocranial dysplasia, and stomach cancer. These proteins control key developmental processes in which they function as both transcriptional activators and repressors. How these opposing regulatory modes can be accomplished in the in vivo context of a cell has not been clear. In this study we us
Cold Spring Harbor Laboratory Press.
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10. Expression Pattern, Regulation, and Biological Role of Runt Domain Transcription Factor, run, in Caenorhabditis elegans
The Caenorhabditis elegans run gene encodes a Runt domain factor. Runx1, Runx2, and Runx3 are the three known mammalian homologs of run. Runx1, which plays an essential role in hematopoiesis, has been identified at the breakpoint of chromosome translocations that are responsible for human leukemia. Runx2 plays an essential role in osteogenesis, and inactivat
American Society for Microbiology.