Inactivation of TGF beta signaling in neural crest stem cells leads to multiple defects reminiscent of DiGeorge syndrome
(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)
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/251909
- author
- Wurdak, H ; Ittner, LM ; Lang, KS ; Levéen, Per LU ; Suter, U ; Fischer, JA ; Karlsson, Stefan LU ; Born, W and Sommer, L
- organization
- publishing date
- 2005
- 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}}, }