|
Situs ambiguus
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
A novel ZIC3 gene mutation identified in patients with heterotaxy and congenital heart disease.
|
30120289 |
2018 |
|
Situs ambiguus
|
0.600 |
Biomarker
|
disease |
BEFREE |
Here we summarise our current understanding of ZIC3 function and describe the potential role ZIC3 plays in important signalling pathways and their links to heterotaxy.
|
29442328 |
2018 |
|
Situs ambiguus
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
A study population of 348 patients collected over more than 10 years with a large variety of congenital heart disease including heterotaxy was screened for variants in the ZIC3 gene.
|
27406248 |
2016 |
|
Situs ambiguus
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Identified cytogenetic abnormalities ranged from large unbalanced translocations to smaller, kilobase-scale CNVs, including a rare, single exon deletion in ZIC3, a gene known to cause X-linked heterotaxy.
|
27821535 |
2016 |
|
Situs ambiguus
|
0.600 |
Biomarker
|
disease |
BEFREE |
Here we report ZIC3 sequencing results from 440 unrelated patients with heterotaxy and CHD, the largest cohort yet examined.
|
24123890 |
2014 |
|
Situs ambiguus
|
0.600 |
Biomarker
|
disease |
BEFREE |
We sought to develop a hypomorphic Zic3 mouse to model human heterotaxy and investigate developmental mechanisms underlying variability in cardiac phenotypes.
|
23999067 |
2013 |
|
Situs ambiguus
|
0.600 |
Biomarker
|
disease |
BEFREE |
Heterotaxy in patients with PTC-containing ZIC3 transcripts probably arises due to loss of ZIC3 function alone.
|
23471918 |
2013 |
|
Situs ambiguus
|
0.600 |
Biomarker
|
disease |
BEFREE |
Patients with TGA (n = 169), double outlet right ventricle (DORV; n = 89), common atrioventricular canal (CAVC; n = 41), and heterotaxy (n = 54) underwent sequencing of ZIC3 exons.
|
23427188 |
2013 |
|
Situs ambiguus
|
0.600 |
Biomarker
|
disease |
BEFREE |
These results define the temporal and spatial requirements for Zic3 in node morphogenesis, left-right patterning and cardiac development and suggest the possibility that a requirement for Zic3 in node ultrastructure underlies its role in heterotaxy and laterality disorders.
|
23303524 |
2013 |
|
Situs ambiguus
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Longitudinal follow-up revealed that this family has X-linked heterotaxy due to a missense mutation, c.1048A>G(R350G), in the third zinc finger domain of ZIC3.
|
22171628 |
2013 |
|
Situs ambiguus
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
We report a four generation family with X-linked heterotaxy associated with a deletion of the ZIC3 gene at Xq26.3.
|
21465648 |
2011 |
|
Situs ambiguus
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The birth incidence of heterotaxy-spectrum malformations is significantly higher in males, but our previous work indicated that mutations within ZIC3 did not account for the male over-representation.
|
21858219 |
2011 |
|
Situs ambiguus
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Polyalanine expansion in the ZIC3 gene leading to X-linked heterotaxy with VACTERL association: a new polyalanine disorder?
|
20452998 |
2010 |
|
Situs ambiguus
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Mutations in ZIC3 are associated with situs ambiguus and cardiac defects predominantly in males.
|
16926859 |
2006 |
|
Situs ambiguus
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Situs ambiguus in a female fetus with balanced (X;21) translocation--evidence for functional nullisomy of the ZIC3 gene?
|
15470371 |
2005 |
|
Situs ambiguus
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
This screening of a cohort of patients with sporadic heterotaxy indicates that ZIC3 mutations account for approximately 1% of affected individuals.
|
14681828 |
2004 |
|
Situs ambiguus
|
0.600 |
Biomarker
|
disease |
BEFREE |
Genes currently implicated in human heterotaxy include ZIC3, LEFTYA, CRYPTIC, and ACVR2B.
|
15096953 |
2004 |
|
Situs ambiguus
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Previously we mapped a locus for situs abnormalities in humans, HTX1, to Xq26.2 by linkage analysis in a single family (LR1) and by detection of a deletion in an unrelated situs ambiguus male (Family LR2; refs 2,3).
|
9354794 |
1997 |
|
Situs ambiguus
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Previously we mapped a locus for situs abnormalities in humans, HTX1, to Xq26.2 by linkage analysis in a single family (LR1) and by detection of a deletion in an unrelated situs ambiguus male (Family LR2; refs 2,3).
|
9354794 |
1997 |
|
Situs ambiguus
|
0.600 |
SusceptibilityMutation
|
disease |
ORPHANET |
|
|
|