|
Atrial Septal Defects
|
0.400 |
GeneticVariation
|
group |
BEFREE |
MATERIAL AND METHODS To investigate the genetic variation of NKX2-5 in Chinese patients with sporadic atrial septal defect, we sequenced the full length of the NKX2-5 gene in the participants of the study.
|
30982828 |
2019 |
|
Atrial Septal Defects
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Additionally, p.Phe145Leu in NKX2-5 associates with high degree atrioventricular block and atrial septal defect ( P<1.4×10<sup>-4</sup>).
|
30354339 |
2018 |
|
Atrial Septal Defects
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Findings indicate that ASD may be favored by consanguineous marriage and that NKX2-5 variant rate in ASD patients may be affected by ethnicity.
|
27752029 |
2017 |
|
Atrial Septal Defects
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Congenital atrial septal defect (ASD) and progressive atriventricular block (AVB) are the two most common phenotypes linked to NK2 homeobox 5 (NKX2.5) mutations in animals and humans.
|
28259982 |
2017 |
|
Atrial Septal Defects
|
0.400 |
Biomarker
|
group |
MGD |
Point mutations in murine Nkx2-5 phenocopy human congenital heart disease and induce pathogenic Wnt signaling.
|
28352650 |
2017 |
|
Atrial Septal Defects
|
0.400 |
GeneticVariation
|
group |
BEFREE |
We screened 39 probands with familial CHD for mutations in NKX2-5 and discovered a novel mutation in one family (2.5%) with ASD and atrioventricular block.
|
26679770 |
2016 |
|
Atrial Septal Defects
|
0.400 |
GeneticVariation
|
group |
BEFREE |
This study aimed to investigate the genetic variations of NKX2-5 in ASD and VSD in Chinese Yunnan population.
|
26297999 |
2016 |
|
Atrial Septal Defects
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Numerous mutations in NKX2-5 gene have been reported in CHD patients, including atrial septal defect, ventricular septal defect (VSD) and tetrology of Fallot.
|
22824467 |
2012 |
|
Atrial Septal Defects
|
0.400 |
GeneticVariation
|
group |
BEFREE |
The findings expand the spectrum of mutations in NKX2-5 linked to ASD and contribute to genetic counseling, clinical interventions, and prenatal prevention of ASD for individuals with genetic susceptibility.
|
21188375 |
2011 |
|
Atrial Septal Defects
|
0.400 |
GeneticVariation
|
group |
BEFREE |
The coding region of GATA4 and NKX2-5 genes was screened by sequencing in another 30 cases including 10 cases of ventricular septal defect (VSD), 10 cases of atrial septal defect (ASD), 8 cases of VSD combined with ASD and 2 cases of atrioventricular septal defects (AVSD).
|
20659440 |
2010 |
|
Atrial Septal Defects
|
0.400 |
GeneticVariation
|
group |
BEFREE |
The gene responsible for ASD was mapped to chromosome 5q35 encoding the transcription factor NKX2-5 that plays an important role for the regulation of septation during cardiac morphogenesis.
|
18375255 |
2008 |
|
Atrial Septal Defects
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Heterozygous mutations in the CSX/NKX2-5 (NKX2E) gene have been identified to cause atrial septal defect (ASD) and/or atrioventricular (AV) conduction disturbance in some families.
|
16896344 |
2006 |
|
Atrial Septal Defects
|
0.400 |
GeneticVariation
|
group |
BEFREE |
The current data suggest that haploinsufficiency of NKX2-5 cause Ebstein anomaly and support previous results showing that NKX2-5 mutations cause ASD and AV conduction defect.
|
16470726 |
2006 |
|
Atrial Septal Defects
|
0.400 |
GeneticVariation
|
group |
BEFREE |
We found one previously documented NKX2-5 missense mutation, T178M, in members of a family with ASD without AV conduction block.
|
12798584 |
2003 |
|
Atrial Septal Defects
|
0.400 |
GeneticVariation
|
group |
LHGDN |
We found one previously documented NKX2-5 missense mutation, T178M, in members of a family with ASD without AV conduction block.
|
12798584 |
2003 |
|
Atrial Septal Defects
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Heterozygous mutation of human CSX/NKX2.5 has been associated with various congenital heart diseases such as atrial septal defect (ASD), ventricular septal defect, tetralogy of Fallot, and tricuspid valve abnormalities, including Ebstein's anomaly.
|
12074273 |
2002 |
|
Atrial Septal Defects
|
0.400 |
Biomarker
|
group |
HPO |
|
|
|