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  Mutations in the RUNX2 gene in patients with cleidocranial dysplasia

Otto, F., Kanegane, H., & Mundlos, S. (2002). Mutations in the RUNX2 gene in patients with cleidocranial dysplasia. Human Mutation, 19(3), 209-216.

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Datensatz-Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-8C52-2 Versions-Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-8C53-F
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 Urheber:
Otto, Florian, Autor
Kanegane, Hirokazu, Autor
Mundlos, Stefan1, Autor              
Affiliations:
1Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433557              

Inhalt

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Schlagwörter: cleidocranial dysplasia; CCD; transcription factor; core binding factor; runt domain; RUNX2; CBFA1; differentiation; osteoblast
 Zusammenfassung: Cleidocranial dysplasia (CCD) is a autosomal dominant disorder characterized by skeletal anomalies such as patent fontanels, late closure of cranial sutures with Wormian bones, late erupting secondary dentition, rudimentary clavicles, and short stature. The locus for this disease was mapped to chromosome 6p21. RUNX2 is a member of the runt family of transcription factors and its expression is restricted to developing osteoblasts and a subset of chondrocytes. Mutations in the RUNX2 gene have been shown to cause CCD. Chromosomal translocations, deletions, insertions, nonsense and splice-site mutations, as well as missense mutations of the RUNX2 gene have been described in CCD patients. Although there is a wide spectrum in phenotypic variability ranging from primary dental anomalies to all CCD features plus osteoporosis, no clear phenotype-genotype correlation has been established. However analysis of the three-dimensional structure of the DNA binding runt domain of the RUNX proteins and its interaction with DNA, as well as the cofactor CBFB, start to provide an insight into how missense mutations affect RUNX2 function.

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Sprache(n): eng - Englisch
 Datum: 2002-02-13
 Publikationsstatus: Im Druck publiziert
 Seiten: -
 Ort, Verlag, Ausgabe: -
 Inhaltsverzeichnis: -
 Art der Begutachtung: -
 Identifikatoren: eDoc: 25647
 Art des Abschluß: -

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Titel: Human Mutation
Genre der Quelle: Zeitschrift
 Urheber:
Affiliations:
Ort, Verlag, Ausgabe: -
Seiten: - Band / Heft: 19 (3) Artikelnummer: - Start- / Endseite: 209 - 216 Identifikator: -