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  Ror2 knockout mouse as a model for the developmental pathology of autosomal recessive Robinow syndrome

Schwabe, G. C., Trepczik, B., Süring, K., Brieske, N., Tucker, A. S., Sharpe, P. T., et al. (2004). Ror2 knockout mouse as a model for the developmental pathology of autosomal recessive Robinow syndrome. Developmental Dynamics, 229(2), 400-410. doi:10.1002/dvdy.10466.

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Genre: Zeitschriftenartikel
Alternativer Titel : Dev Dyn

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 Urheber:
Schwabe, Georg C.1, Autor           
Trepczik, Britta2, Autor
Süring, Kathrin2, Autor
Brieske, Norbert1, Autor           
Tucker, Abigail S., Autor
Sharpe, Paul T., Autor
Minami, Yasuhiro, Autor
Mundlos, Stefan1, Autor           
Affiliations:
1Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433557              
2Max Planck Society, ou_persistent13              

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Schlagwörter: Ror2; Robinow syndrome; somitogenesis; development of limb; craniofacies; genital
 Zusammenfassung: Robinow syndrome (RS) is a human dwarfism syndrome characterized by mesomelic limb shortening, vertebral and craniofacial malformations and small external genitals. We have analyzed Ror2-/- mice as a model for the developmental pathology of RS. Our results demonstrate that vertebral malformations in Ror2-/- mice are due to reductions in the presomitic mesoderm and defects in somitogenesis. Mesomelic limb shortening in Ror2-/- mice is a consequence of perturbed chondrocyte differentiation. Moreover, we show that the craniofacial phenotype is caused by a midline outgrowth defect. Ror2 expression in the genital tubercle and its reduced size in Ror2-/- mice makes it likely that Ror2 is involved in genital development. In conclusion, our findings suggest that Ror2 is essential at multiple sites during development. The Ror2-/- mouse provides a suitable model that may help to explain many of the underlying developmental malformations in individuals with Robinow syndrome.

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Sprache(n): eng - English
 Datum: 2004-02
 Publikationsstatus: Erschienen
 Seiten: -
 Ort, Verlag, Ausgabe: -
 Inhaltsverzeichnis: -
 Art der Begutachtung: -
 Identifikatoren: eDoc: 228850
DOI: 10.1002/dvdy.10466
 Art des Abschluß: -

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Titel: Developmental Dynamics
  Alternativer Titel : Dev Dyn
Genre der Quelle: Zeitschrift
 Urheber:
Affiliations:
Ort, Verlag, Ausgabe: -
Seiten: - Band / Heft: 229 (2) Artikelnummer: - Start- / Endseite: 400 - 410 Identifikator: ISSN: 1058-8388