Associated Papers
Non-coding cause of congenital heart defects: Abnormal RNA splicing with multiple isoforms as a mechanism for heterotaxy.
Wells JR et al.
Hgg Advances, 2024
Loss of Zic3 impairs planar cell polarity leading to abnormal left-right signaling, heart defects and neural tube defects.
Bellchambers HM et al.
Human Molecular Genetics, 2021
A novel ZIC3 gene mutation identified in patients with heterotaxy and congenital heart disease.
Li S et al.
Scientific Reports, 2018
Rare novel variants in the ZIC3 gene cause X-linked heterotaxy.
Paulussen AD et al.
European Journal of Human Genetics : Ejhg, 2016
Genetic and functional analyses of ZIC3 variants in congenital heart disease.
Cowan J et al.
Human Mutation, 2014
Sumoylation regulates nuclear localization and function of zinc finger transcription factor ZIC3.
Chen L et al.
Biochimica Et Biophysica Acta, 2013
Mutations in ZIC3 and ACVR2B are a common cause of heterotaxy and associated cardiovascular anomalies.
Ma L et al.
Cardiology in the Young, 2012
Functional and structural basis of the nuclear localization signal in the ZIC3 zinc finger domain.
Hatayama M et al.
Human Molecular Genetics, 2008
Characterization of the interactions of human ZIC3 mutants with GLI3.
Zhu L et al.
Human Mutation, 2008
Elucidation of penetrance variability of a ZIC3 mutation in a family with complex heart defects and functional analysis of ZIC3 mutations in the first zinc finger domain.
Chhin B et al.
Human Mutation, 2007
Nuclear import and export signals are essential for proper cellular trafficking and function of ZIC3.
Bedard JE et al.
Human Molecular Genetics, 2007
Identification and functional analysis of ZIC3 mutations in heterotaxy and related congenital heart defects.
Ware SM et al.
American Journal of Human Genetics, 2004
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