Journal article
Identification and functional analysis of CITED2 mutations in patients with congenital heart defects
Abstract
Recent reports have demonstrated that mice lacking the transcription factor Cited2 die in utero showing various cardiac malformations. We present for the first time functionally relevant mutations of CITED2 in patients with congenital heart defects (CHDs). CITED2 encodes a CREBBP/EP300 interacting transcriptional modulator of HIF1A and TFAP2. To study the potential impact of sequence variations in CITED2 for CHDs in humans, we screened a cohort …
Authors
Sperling S; Grimm CH; Dunkel I; Mebus S; Sperling H; Ebner A; Galli R; Lehrach H; Fusch C; Berger F
Journal
Human Mutation, Vol. 26, No. 6, pp. 575–582
Publisher
Hindawi
Publication Date
December 2005
DOI
10.1002/humu.20262
ISSN
1059-7794
Fields of Research (FoR)
Medical Subject Headings (MeSH)
Amino Acid SequenceCell LineCohort StudiesDNA-Binding ProteinsGene Expression RegulationGene FrequencyGenetic TestingHaplotypesHeart Defects, CongenitalHumansHypoxia-Inducible Factor 1, alpha SubunitMutationPhenotypePolymorphism, Single NucleotideRecombinant Fusion ProteinsRepressor ProteinsTrans-ActivatorsTranscription Factor AP-2