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

Wurdak, H ; Ittner, LM ; Lang, KS ; Levéen, Per LU ; Suter, U ; Fischer, JA ; Karlsson, Stefan LU orcid ; Born, W and Sommer, L (2005) In Genes & Development 19(5). p.530-535
Abstract
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... (More)
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. (Less)
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author
; ; ; ; ; ; ; and
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
pharyngeal, fate decision, Src kinase, CrkL, neural crest, TGF beta, DiGeorge syndrome, apparatus
in
Genes & Development
volume
19
issue
5
pages
530 - 535
publisher
Cold Spring Harbor Laboratory Press (CSHL)
external identifiers
  • pmid:15741317
  • wos:000227292700002
  • scopus:14644418529
ISSN
1549-5477
DOI
10.1101/gad.317405
language
English
LU publication?
yes
additional info
The information about affiliations in this record was updated in December 2015. The record was previously connected to the following departments: Molecular Medicine and Gene Therapy (0131000135), Division of Molecular Medicine and Gene Therapy (013022010), Paediatrics (Lund) (013002000)
id
fd70518f-9ab7-493c-ab3b-5217b62da71e (old id 251909)
date added to LUP
2016-04-01 16:30:06
date last changed
2022-02-12 22:35:09
@article{fd70518f-9ab7-493c-ab3b-5217b62da71e,
  abstract     = {{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.}},
  author       = {{Wurdak, H and Ittner, LM and Lang, KS and Levéen, Per and Suter, U and Fischer, JA and Karlsson, Stefan and Born, W and Sommer, L}},
  issn         = {{1549-5477}},
  keywords     = {{pharyngeal; fate decision; Src kinase; CrkL; neural crest; TGF beta; DiGeorge syndrome; apparatus}},
  language     = {{eng}},
  number       = {{5}},
  pages        = {{530--535}},
  publisher    = {{Cold Spring Harbor Laboratory Press (CSHL)}},
  series       = {{Genes & Development}},
  title        = {{Inactivation of TGF beta signaling in neural crest stem cells leads to multiple defects reminiscent of DiGeorge syndrome}},
  url          = {{http://dx.doi.org/10.1101/gad.317405}},
  doi          = {{10.1101/gad.317405}},
  volume       = {{19}},
  year         = {{2005}},
}