|
Schizophrenia
|
0.010 |
Biomarker
|
disease |
BEFREE |
The postsynaptic density-95/discs large/zone occludens-1 (PDZ) domain and LIM (Lin-11, Isl-1, and Mec-3) domain 5 (PDLIM5) gene has been analyzed as a candidate gene for both schizophrenia and bipolar disorder (BP) in Japanese samples.
|
18496208 |
2008 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.070 |
AlteredExpression
|
disease |
BEFREE |
ISL1 expression is up-regulated at the mRNA level in type 2 diabetes (db/db mouse model) but down-regulated by dexamethasone in rat insulinoma cells.
|
19619559 |
2009 |
|
Arrhythmogenic Right Ventricular Dysplasia
|
0.020 |
Biomarker
|
disease |
BEFREE |
In addition, rare cells coexpressed adipogenic transcription factors and the second heart field markers Isl1 and Mef2C in the lineage tracer mouse hearts and in human myocardium from patients with arrhythmogenic right ventricular cardiomyopathy.
|
19359597 |
2009 |
|
Maturity onset diabetes mellitus in young
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Mutations in ISL1 are associated with maturity-onset diabetes of the young and type 2 diabetes.
|
19619559 |
2009 |
|
Coronary heart disease
|
0.060 |
GeneticVariation
|
disease |
BEFREE |
Our results demonstrate that two different ISL1 haplotypes contribute to risk of CHD in white and black/African American populations.
|
20520780 |
2010 |
|
Congenital heart disease
|
0.060 |
GeneticVariation
|
group |
BEFREE |
A replication study analyzed these candidate SNPs in 1,044 new cases and 3,934 independent controls and confirmed that genetic variation in ISL1 is associated with risk of non-syndromic congenital heart disease.
|
20520780 |
2010 |
|
Complex congenital heart disease
|
0.010 |
Biomarker
|
disease |
BEFREE |
Eight genic and flanking ISL1 SNPs were significantly associated with complex congenital heart disease.
|
20520780 |
2010 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.070 |
GeneticVariation
|
disease |
BEFREE |
Variants in USF1, ABCC8, ISL1 and KCNJ11 showed nominal association, while haplotypes in these genes were significantly associated. rs3812704 upstream of NEUROG3 significantly increased risk for type 2 diabetes in normal-weight/lean subjects (OR=1.68 (95%CI 1.25-2.24), P=4.9 × 10(-4)).
|
21814221 |
2011 |
|
Double Outlet Right Ventricle
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, the present results (i) indicate and confirm that mutations in the GATA4, GDF1, and ISLET1 genes are not major determinants in the pathogenesis of TOF, (ii) provide supportive evidence of an association between ZFPM2/FOG2 gene and TOF/DORV, and (iii) provide additional examples of the possible contribution of the Arg25Cys change in the NKX2.5 to a small number of TOF cases.
|
20807224 |
2011 |
|
Carcinogenesis
|
0.020 |
Biomarker
|
phenotype |
BEFREE |
Four and a half LIM protein 1 (FHL1) belongs to the Lin-1, Isl-1 and Mec-3 (LIM)-only protein family and plays important roles in muscle growth and carcinogenesis.
|
19840196 |
2011 |
|
Truncus Arteriosus, Persistent
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
We investigated the occurrence and the prevalence of GATA4, NKX2.5, ZFPM2/FOG2, GDF1, and ISLET1 gene mutations in a large cohort of individuals with CTD, including tetralogy of Fallot with or without pulmonary atresia (TOF, 178 patients), double outlet right ventricle (DORV, 13 patients), and truncus arteriosus (11 patients).
|
20807224 |
2011 |
|
Congenital atresia of pulmonary valve
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
We investigated the occurrence and the prevalence of GATA4, NKX2.5, ZFPM2/FOG2, GDF1, and ISLET1 gene mutations in a large cohort of individuals with CTD, including tetralogy of Fallot with or without pulmonary atresia (TOF, 178 patients), double outlet right ventricle (DORV, 13 patients), and truncus arteriosus (11 patients).
|
20807224 |
2011 |
|
Congenital atresia of pulmonary artery
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
We investigated the occurrence and the prevalence of GATA4, NKX2.5, ZFPM2/FOG2, GDF1, and ISLET1 gene mutations in a large cohort of individuals with CTD, including tetralogy of Fallot with or without pulmonary atresia (TOF, 178 patients), double outlet right ventricle (DORV, 13 patients), and truncus arteriosus (11 patients).
|
20807224 |
2011 |
|
Conotruncal defect
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
We investigated the occurrence and the prevalence of GATA4, NKX2.5, ZFPM2/FOG2, GDF1, and ISLET1 gene mutations in a large cohort of individuals with CTD, including tetralogy of Fallot with or without pulmonary atresia (TOF, 178 patients), double outlet right ventricle (DORV, 13 patients), and truncus arteriosus (11 patients).
|
20807224 |
2011 |
|
Coronary heart disease
|
0.060 |
GeneticVariation
|
disease |
BEFREE |
This is the first study which indicates that ISL1 common variant rs1017 may not play a role in sporadic CHD susceptibility in the Chinese population.
|
22480195 |
2012 |
|
Congenital heart disease
|
0.060 |
AlteredExpression
|
group |
BEFREE |
Lacking ISL1 expression results in growth arrest or displays profound defects in heart development, including atria, ventricle, and the inflow and outflow tracts, which constitute a major form of congenital heart disease (CHD).
|
22480195 |
2012 |
|
Congenital Abnormality
|
0.030 |
AlteredExpression
|
group |
BEFREE |
In the mouse, Lhx2, which encodes a member of the LIM (Lin-11, Isl-1, and Mec-3) class of homeodomain proteins, was shown to be expressed during early development in the posterior pituitary, eye, and liver, and its expression persists in adulthood in the central nervous system Lhx2(-/-) mice display absence of posterior pituitary and intermediate lobes, malformation of the anterior lobe, anophthalmia, and they die from anemia.
|
22535646 |
2012 |
|
Anemia
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
In the mouse, Lhx2, which encodes a member of the LIM (Lin-11, Isl-1, and Mec-3) class of homeodomain proteins, was shown to be expressed during early development in the posterior pituitary, eye, and liver, and its expression persists in adulthood in the central nervous system Lhx2(-/-) mice display absence of posterior pituitary and intermediate lobes, malformation of the anterior lobe, anophthalmia, and they die from anemia.
|
22535646 |
2012 |
|
Deformity
|
0.010 |
AlteredExpression
|
group |
BEFREE |
In the mouse, Lhx2, which encodes a member of the LIM (Lin-11, Isl-1, and Mec-3) class of homeodomain proteins, was shown to be expressed during early development in the posterior pituitary, eye, and liver, and its expression persists in adulthood in the central nervous system Lhx2(-/-) mice display absence of posterior pituitary and intermediate lobes, malformation of the anterior lobe, anophthalmia, and they die from anemia.
|
22535646 |
2012 |
|
Thyroid Dysgenesis
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Screening for mutations in the ISL1 gene in patients with thyroid dysgenesis.
|
21060249 |
2012 |
|
Neuroblastoma
|
0.340 |
AlteredExpression
|
disease |
BEFREE |
In the present study, we validated the ability of 14 commonly used real-time RT-PCR markers to detect MRD based on their expression in neuroblastoma TICs, and we developed a novel MRD detection protocol, which scored the samples as MRD-positive when the expression of one of the 11 real-time RT-PCR markers (CHRNA3, CRMP1, DBH, DCX, DDC, GABRB3, GAP43, ISL1, KIF1A, PHOX2B and TH) exceeded the normal range.
|
23417100 |
2013 |
|
Coronary heart disease
|
0.060 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, ISL1 common variant rs1017 is not associated with increased genetic risk of CHD in the white population.
|
23229290 |
2013 |
|
Congenital heart disease
|
0.060 |
GeneticVariation
|
group |
BEFREE |
Lack of association of the 3'-UTR polymorphism (rs1017) in the ISL1 gene and risk of congenital heart disease in the white population.
|
23229290 |
2013 |
|
Congenital heart disease
|
0.060 |
GeneticVariation
|
group |
BEFREE |
An ISL1 haplotype has recently been associated with congenital heart disease.
|
23152444 |
2013 |
|
Malignant neoplasm of breast
|
0.040 |
GeneticVariation
|
disease |
BEFREE |
We examined the mRNA expression of C terminus-binding protein-interacting protein and Lin11, Isl-1, and Mec-3 domain only 4 (LMO4) in pretreatment tumor samples from 91 erlotinib-treated advanced non-small-cell lung cancer patients with EGFR mutations in whom breast cancer gene 1 (BRCA1) expression and the concomitant presence of the EGFR T790M mutation had previously been assessed.
|
23407556 |
2013 |