CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 5
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Somatic GATA5 mutations in sporadic tetralogy of Fallot.
|
24573614 |
2014 |
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 5
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 5
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Rare non-synonymous variations in the transcriptional activation domains of GATA5 in bicuspid aortic valve disease.
|
22641149 |
2012 |
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 5
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
GATA5 loss-of-function mutation responsible for the congenital ventriculoseptal defect.
|
22961344 |
2013 |
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 5
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
GATA5 loss-of-function mutations underlie tetralogy of fallot.
|
23289003 |
2013 |
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 5
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Prevalence and spectrum of GATA5 mutations associated with congenital heart disease.
|
23031282 |
2013 |
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 5
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 5
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
A novel GATA5 loss-of-function mutation underlies lone atrial fibrillation.
|
23175127 |
2013 |
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 5
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Novel GATA5 loss-of-function mutations underlie familial atrial fibrillation.
|
23295592 |
2012 |
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 5
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
GATA5 loss-of-function mutations associated with congenital bicuspid aortic valve.
|
24638895 |
2014 |
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 5
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
GATA5 loss-of-function mutation in familial dilated cardiomyopathy.
|
25543888 |
2015 |
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 5
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Mutational spectrum of the GATA5 gene associated with familial atrial fibrillation.
|
22483626 |
2012 |
Bicuspid aortic valve
|
0.480 |
GeneticVariation
|
disease |
BEFREE |
Here, we investigated the relationship between GATA5 gene variants and BAV with its associated aortopathy.
|
22641149 |
2012 |
Bicuspid aortic valve
|
0.480 |
GeneticVariation
|
disease |
BEFREE |
Rare sequence variants in GATA5 are associated with human BAV.
|
24796370 |
2014 |
Bicuspid aortic valve
|
0.480 |
GermlineCausalMutation
|
disease |
ORPHANET |
As a result, two novel heterozygous GATA5 mutations, p.Y16D and p.T252P, were identified in two families with autosomal dominant inheritance of BAV, respectively.
|
24638895 |
2014 |
Bicuspid aortic valve
|
0.480 |
Biomarker
|
disease |
BEFREE |
While BAV is known to be highly heritable, mutations in single genes (such as GATA5 and NOTCH1) have been reported in few human BAV cases.
|
25260786 |
2014 |
Bicuspid aortic valve
|
0.480 |
Biomarker
|
disease |
BEFREE |
NOTCH1, SMAD6, and GATA5 are associated with BAV in humans, but few cases have been reported that did not involve NOTCH1.
|
30848080 |
2019 |
Bicuspid aortic valve
|
0.480 |
Biomarker
|
disease |
HPO |
|
|
|
Bicuspid aortic valve
|
0.480 |
GeneticVariation
|
disease |
BEFREE |
This study associates additional genetic variants in GATA4 and GATA5 with BAV, supporting the implication of these genes in the development of this valvulopathy.
|
30229885 |
2018 |
Bicuspid aortic valve
|
0.480 |
Biomarker
|
disease |
BEFREE |
Other candidate genes have been suggested based on the presence of BAV in knockout mouse models (e.g., <i>GATA5, NOS3</i>) or in syndromic (e.g., <i>TGFBR1/2, TGFB2/3</i>) or non-syndromic (e.g., <i>ACTA2</i>) TAA forms.
|
28659821 |
2017 |
Bicuspid aortic valve
|
0.480 |
GeneticVariation
|
disease |
BEFREE |
In the present study, the coding regions and splice junction sites of the GATA5 gene, which codes for a zinc-finger transcription factor crucial for the normal development of the aortic valve, was sequenced initially in 110 unrelated patients with BAV.
|
24638895 |
2014 |
Bicuspid aortic valve
|
0.480 |
GeneticVariation
|
disease |
BEFREE |
Endocardial cell-specific inactivation of Gata5 led to BAV, similar to that observed in Gata5-/- mice.
|
21633169 |
2011 |
Tetralogy of Fallot
|
0.420 |
Biomarker
|
disease |
HPO |
|
|
|
Tetralogy of Fallot
|
0.420 |
GeneticVariation
|
disease |
BEFREE |
GATA5 loss-of-function mutations underlie tetralogy of fallot.
|
23289003 |
2013 |
Tetralogy of Fallot
|
0.420 |
GermlineCausalMutation
|
disease |
ORPHANET |
GATA5 loss-of-function mutations underlie tetralogy of fallot.
|
23289003 |
2013 |