Journal article icon

Journal article

Biallelic expression of Tbx1 protects the embryo from developmental defects caused by increased receptor tyrosine kinase signaling.

Abstract:

BACKGROUND: 22q11.2 deletion syndrome (22q11DS) is the most common microdeletion syndrome in humans, characterized by cardiovascular defects such as interrupted aortic arch, outflow tract defects, thymus and parathyroid hypo- or aplasia, and cleft palate. Heterozygosity of Tbx1, the mouse homolog of the candidate TBX1 gene, results in mild defects dependent on genetic background, whereas complete inactivation results in severe malformations in multiple tissues. RESULTS: The loss of function o...

Expand abstract
Publication status:
Published

Actions


Access Document


Publisher copy:
10.1002/dvdy.23812

Authors


Simrick, S More by this author
Szumska, D More by this author
Gardiner, JR More by this author
Expand authors...
Journal:
Developmental dynamics : an official publication of the American Association of Anatomists
Volume:
241
Issue:
8
Pages:
1310-1324
Publication date:
2012-08-05
DOI:
EISSN:
1097-0177
ISSN:
1058-8388
URN:
uuid:8dd38be3-bf9f-4381-9273-ccb1a17210ca
Source identifiers:
345893
Local pid:
pubs:345893

Terms of use


Metrics



If you are the owner of this record, you can report an update to it here: Report update to this record

TO TOP