Webbläsaren som du använder stöds inte av denna webbplats. Alla versioner av Internet Explorer stöds inte längre, av oss eller Microsoft (läs mer här: * https://www.microsoft.com/en-us/microsoft-365/windows/end-of-ie-support).

Var god och använd en modern webbläsare för att ta del av denna webbplats, som t.ex. nyaste versioner av Edge, Chrome, Firefox eller Safari osv.

Inactivation of TGF beta signaling in neural crest stem cells leads to multiple defects reminiscent of DiGeorge syndrome

Författare

  • H Wurdak
  • LM Ittner
  • KS Lang
  • Per Levéen
  • U Suter
  • JA Fischer
  • Stefan Karlsson
  • W Born
  • L Sommer

Summary, in English

Specific inactivation of TGFbeta signaling in neural crest stem cells (NCSCs) results in cardiovascular defects and thymic, parathyroid, and craniofacial anomalies. All these malformations characterize DiGeorge syndrome, the most common microdeletion syndrome in humans. Consistent with a role of TGFbeta in promoting non-neural lineages in NCSCs, mutant neural crest cells migrate into the pharyngeal apparatus but are unable to acquire non-neural cell fates. Moreover, in neural crest cells, TGFbeta signaling is both sufficient and required for phosphorylation of CrkL, a signal adaptor protein implicated in the development of DiGeorge syndrome. Thus, TGFbeta signal modulation in neural crest differentiation might play a crucial role in the etiology of DiGeorge syndrome.

Publiceringsår

2005

Språk

Engelska

Sidor

530-535

Publikation/Tidskrift/Serie

Genes & Development

Volym

19

Issue

5

Dokumenttyp

Artikel i tidskrift

Förlag

Cold Spring Harbor Laboratory Press (CSHL)

Ämne

  • Genetics

Nyckelord

  • pharyngeal
  • fate decision
  • Src kinase
  • CrkL
  • neural crest
  • TGF beta
  • DiGeorge syndrome
  • apparatus

Status

Published

ISBN/ISSN/Övrigt

  • ISSN: 1549-5477