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ZIC3 encodes a member of the ZIC family of C2H2-type zinc finger proteins. Additionally we are shipping Zic Family Member 3 Antibodies (65) and many more products for this protein.
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Six novel pathogenic variants were identified in either male patients with heterotaxy or a female patient with multiple male deaths due to heterotaxy in the family. Truncating variants showed abnormal trafficking of mutated ZIC3 proteins.
Targeted Resequencing of 29 Candidate Genes and Mouse Expression Studies Implicate ZIC3 and FOXF1 (show FOXF1 Proteins) in Human VATER/VACTERL Association
detected the expression level of miR (show MLXIP Proteins)-564 and ZIC3 protein in tissue specimens, and found a significant negative correlation between them. Patients with low levels of miR (show MLXIP Proteins)-564 showed a poorer overall survival
ZIC3 sequencing from unrelated patients with heterotaxy and congenital heart disease identified variants in 5.2% of sporadic male cases some of which were novel. Functional analyses show aberrant cytoplasmic localization.
sumoylation targets human ZIC3 primarily on the consensus lysine residue K248, which is critical for the nuclear retention of ZIC3.
Case Reports: situs inversus totalis and X-linked heterotaxy as a result of novel ZIC3 mutation.
ZIC3 mutations are an important etiology in sporadic and familial heterotaxy.
Mutations in Zinc Finger Protein of the Cerebellum 3 were identified in 4 of the 47 patients (8.5%) with heterotaxy syndrome. Our results expand the mutation spectrum of monogenic heterotaxy syndrome with associated cardiac anomalies.
Data show that transcript, termed Zic3-B, encompasses exons 1, 2, and 4 whereas Zic3-A encompasses exons 1, 2, and 3.
Disruption of Gli3 (show GLI3 Proteins)-Zic3 interaction in the critical period for ventral body wall formation may contribute to omphalocele phenotype in Cd chick model.
results demonstrate a functional conservation of Zic3 in left-right patterning and uncover a previously unrecognized role for Zic3 in convergent extension morphogenesis during early vertebrate development
Zic3 can suppress Wnt (show WNT2 Proteins)/beta-catenin (show CTNNB1 Proteins) signaling and control development of the notochord and Spemann's organizer.
The primary effect of Zic3 in heart development occurs during left-right patterning.
Zic3 is required in the migrating primitive streak for node morphogenesis and left-right patterning
Heterotaxy in patients with premature termination codon-containing ZIC3 transcripts probably arises due to loss of ZIC3 function alone.
These data provide basis for further understanding the molecular mechanisms underlying the complex interaction of Zic3 with signaling pathways involved in the early establishment of laterality.
study demonstrates that Zic3 and Gli3 (show GLI3 Proteins) expression overlap in developing limbs and that Zic3 converts Gli3 (show GLI3 Proteins) from repressor to activator in vitro; results indicate two Gli (show GLI1 Proteins) superfamily members that cause disparate human congenital malformation syndromes interact genetically and demonstrate the importance of Zic3 in regulating Shh (show SHH Proteins) pathway in developing limbs
Data demonstrate an important pathway for regulation of Nanog (show NANOG Proteins) expression in pluripotent ESCs (show NR2E3 Proteins) through direct activation by Zic3.
A complex syndrome of left-right axis, central nervous system and axial skeleton defects in Zic3 mutant mice.
Zic3-deficient mice develop neural tube defects in their midbrain and hindbrain region and cerebellar dysgenesis characterized by subregional hypoplasia affecting locomotor activity, muscle tone and eye movement control.
This gene encodes a member of the ZIC family of C2H2-type zinc finger proteins. This nuclear protein probably functions as a transcription factor in early stages of left-right body axis formation. Mutations in this gene cause X-linked visceral heterotaxy, which includes congenital heart disease and left-right axis defects in organs.
Zic family member 3 (odd-paired homolog, Drosophila)
, heterotaxy 1
, zinc finger protein 203
, zinc finger protein ZIC 3
, zinc finger protein of the cerebellum 3
, Zic family member 3 heterotaxy 1 (odd-paired homolog, Drosophila)
, Zic family member 3 (odd-paired homolog)
, Zic family member 3 heterotaxy 1
, zinc finger protein Zic3-A