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The role of chordin/Bmp signals in mammalian pharyngeal development and DiGeorge syndrome.

Publication ,  Journal Article
Bachiller, D; Klingensmith, J; Shneyder, N; Tran, U; Anderson, R; Rossant, J; De Robertis, EM
Published in: Development
August 2003

The chordin/Bmp system provides one of the best examples of extracellular signaling regulation in animal development. We present the phenotype produced by the targeted inactivation of the chordin gene in mouse. Chordin homozygous mutant mice show, at low penetrance, early lethality and a ventralized gastrulation phenotype. The mutant embryos that survive die perinatally, displaying an extensive array of malformations that encompass most features of DiGeorge and Velo-Cardio-Facial syndromes in humans. Chordin secreted by the mesendoderm is required for the correct expression of Tbx1 and other transcription factors involved in the development of the pharyngeal region. The chordin mutation provides a mouse model for head and neck congenital malformations that frequently occur in humans and suggests that chordin/Bmp signaling may participate in their pathogenesis.

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Published In

Development

DOI

ISSN

0950-1991

Publication Date

August 2003

Volume

130

Issue

15

Start / End Page

3567 / 3578

Location

England

Related Subject Headings

  • T-Box Domain Proteins
  • Proteins
  • Pharynx
  • Mutation
  • Mice
  • Intercellular Signaling Peptides and Proteins
  • Glycoproteins
  • Genes, Lethal
  • Gastrula
  • Fibroblast Growth Factors
 

Citation

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Bachiller, D., Klingensmith, J., Shneyder, N., Tran, U., Anderson, R., Rossant, J., & De Robertis, E. M. (2003). The role of chordin/Bmp signals in mammalian pharyngeal development and DiGeorge syndrome. Development, 130(15), 3567–3578. https://doi.org/10.1242/dev.00581
Bachiller, Daniel, John Klingensmith, Natalya Shneyder, Uyen Tran, Ryan Anderson, Janet Rossant, and E. M. De Robertis. “The role of chordin/Bmp signals in mammalian pharyngeal development and DiGeorge syndrome.Development 130, no. 15 (August 2003): 3567–78. https://doi.org/10.1242/dev.00581.
Bachiller D, Klingensmith J, Shneyder N, Tran U, Anderson R, Rossant J, et al. The role of chordin/Bmp signals in mammalian pharyngeal development and DiGeorge syndrome. Development. 2003 Aug;130(15):3567–78.
Bachiller, Daniel, et al. “The role of chordin/Bmp signals in mammalian pharyngeal development and DiGeorge syndrome.Development, vol. 130, no. 15, Aug. 2003, pp. 3567–78. Pubmed, doi:10.1242/dev.00581.
Bachiller D, Klingensmith J, Shneyder N, Tran U, Anderson R, Rossant J, De Robertis EM. The role of chordin/Bmp signals in mammalian pharyngeal development and DiGeorge syndrome. Development. 2003 Aug;130(15):3567–3578.
Journal cover image

Published In

Development

DOI

ISSN

0950-1991

Publication Date

August 2003

Volume

130

Issue

15

Start / End Page

3567 / 3578

Location

England

Related Subject Headings

  • T-Box Domain Proteins
  • Proteins
  • Pharynx
  • Mutation
  • Mice
  • Intercellular Signaling Peptides and Proteins
  • Glycoproteins
  • Genes, Lethal
  • Gastrula
  • Fibroblast Growth Factors