Agenesis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
GATA6 gene variants come along with possible features such as pancreas agenesis/hypoplasia, neonatal diabetes and congenital heart defect.
|
31271559 |
2019 |
Agenesis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous de novo mutations in GATA6 are the most frequent cause of pancreatic agenesis in humans.
|
30629940 |
2019 |
Agenesis
|
0.100 |
Biomarker
|
disease |
BEFREE |
GATA4 and GATA6 play essential, but redundant, roles in pancreas formation in mice, and <i>GATA6</i> mutations cause pancreatic agenesis in humans.
|
29263149 |
2018 |
Agenesis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Induced pluripotent stem cells were created from a pancreas agenesis patient with a mutation in GATA6.
|
28196690 |
2017 |
Agenesis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in GATA6 should be strongly considered in cases of diabetes due to pancreatic hypoplasia or agenesis, and potentially affected family members should be tested regardless of phenotype.
|
28049534 |
2017 |
Agenesis
|
0.100 |
Biomarker
|
disease |
BEFREE |
The combination of neonatal diabetes and pancreatic agenesis/hypoplasia should alert the clinician to the possibility of a GATA6 gene abnormality.
|
27098067 |
2016 |
Agenesis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The novel mutation described in this case extends the list of GATA6 mutations causing pancreatic agenesis and cardiac malformations.
|
24433315 |
2015 |
Agenesis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
These results show how genetic mutations in GATA6 may lead to functional inactivity and pancreatic agenesis in humans.
|
25706805 |
2015 |
Agenesis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In humans, GATA6 haploinsufficiency can cause pancreatic agenesis and heart defects.
|
24696446 |
2014 |
Agenesis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in GATA6 have been previously associated with pancreatic agenesis and congenital heart disease.
|
24385578 |
2014 |
Agenesis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in PDX1, PTF1A, HNF1B, EIF2AK3, RFX6 and GATA6 genes have been shown to result in pancreatic agenesis or hypoplasia.
|
23639568 |
2013 |
Agenesis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
GATA6 mutations cause a broad phenotypic spectrum of diabetes from pancreatic agenesis to adult-onset diabetes without exocrine insufficiency.
|
23223019 |
2013 |
Agenesis
|
0.100 |
Biomarker
|
disease |
BEFREE |
We sequenced GATA6 in 8 children with diabetes and inborn pancreas abnormalities, i.e. hypoplasia or aplasia in which other known candidate genes causing monogenic diabetes and pancreatic defects had been excluded.
|
23635550 |
2013 |