|
Tetralogy of Fallot
|
0.710 |
GeneticVariation
|
disease |
BEFREE |
Here, we show that heterozygous loss-of-function mutations in the human GDF1 gene contribute to cardiac defects ranging from tetralogy of Fallot to transposition of the great arteries and that decreased TGF- beta signaling provides a framework for understanding their pathogenesis.
|
17924340 |
2007 |
|
Right Atrial Isomerism
|
0.620 |
Biomarker
|
disease |
BEFREE |
This finding, supported by the similar phenotype in Gdf1 knockout mouse, provides firm evidence that RAI can occur as a recessively inherited condition, with GDF1 as the culprit gene.
|
20413652 |
2010 |
|
Right Atrial Isomerism
|
0.620 |
AlteredExpression
|
disease |
BEFREE |
In this work, hypoxia differently affected cell survival and pro-apoptotic program in two NB cell lines, either expressing RAI (SKNBE) or not (SKNMC).
|
29057481 |
2018 |
|
Congenital Heart Defects
|
0.430 |
Biomarker
|
group |
BEFREE |
We describe a 5-month-old boy with complex congenital heart defects (dTGA, DORV, VSD, ASD, and PDA), minor facial and ear anomalies, deep palmar creases, multiple vertebral anomalies, agenesis of the corpus callosum, and mosaic tetrasomy 8p (47,XY,+i(8)(p10)[88%]/46,XY[12%] in blood with normal chromosomes in cultured skin fibroblasts.
|
9415694 |
1997 |
|
Congenital Heart Defects
|
0.430 |
GeneticVariation
|
group |
BEFREE |
Association of GDF1 rs4808863 with fetal congenital heart defects: a case-control study.
|
26656983 |
2015 |
|
Congenital Heart Defects
|
0.430 |
GeneticVariation
|
group |
BEFREE |
Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans.
|
17924340 |
2007 |
|
Transposition of Great Vessels
|
0.410 |
GeneticVariation
|
disease |
BEFREE |
Here, we show that heterozygous loss-of-function mutations in the human GDF1 gene contribute to cardiac defects ranging from tetralogy of Fallot to transposition of the great arteries and that decreased TGF- beta signaling provides a framework for understanding their pathogenesis.
|
17924340 |
2007 |
|
Congenital atresia of pulmonary artery
|
0.110 |
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 |
|
Atrioventricular Septal Defect
|
0.110 |
GeneticVariation
|
disease |
BEFREE |
Our results suggest that the GDF1 rs4808863 polymorphism contributes to an increased risk of fetal CHDs, especially the subtypes of AVSD, LVOTO and left-right laterality defects.
|
26656983 |
2015 |
|
Differentiated Thyroid Gland Carcinoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
Radioiodine treatment (RAI-T) of differentiated thyroid carcinoma (DTC) is important to avoid disease progression, in particular in pediatric patients.
|
30260898 |
2018 |
|
Differentiated Thyroid Gland Carcinoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
DTC = differentiated thyroid cancer; LASA = linear analog self-assessment; PR = partial response; QOL = quality of life; RAI = radioactive iodine; RAIR = RAI-resistant; RECIST = Response Evaluation Criteria In Solid Tumors; Tg = thyroglobulin; VEGFR = vascular endothelial growth factor receptor.
|
28816536 |
2017 |
|
Differentiated Thyroid Gland Carcinoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
<b>Abbreviations: BM</b> = bone metastases; <b>COX</b> = multivariate analyses; <b>DM</b> = distant metastases; <b>DSM</b> = disease-specific mortality; <b>DSS</b> = disease-specific survival; <b>DTC</b> = differentiated thyroid carcinoma; <b>ETE</b> = extrathyroidal extension; <b>LNM</b> = lymph node metastases; <b>OM</b> = overall mortality; <b>OS</b> = overall survival; <b>PTCFV</b> = papillary thyroid carcinoma; <b>RAI</b> = radioactive iodine; <b>SM</b> = spinal metastases; <b>SRE</b> = skeletal-related event; <b>txWBS</b> = whole-body scan after RAI therapy.
|
30657361 |
2019 |
|
Differentiated Thyroid Gland Carcinoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
Overall, sora@Tf-HMSNs can significantly increase the effective drug concentration in cancer cells and thus enhance the anticancer effect, which are expected to be promising nanocarriers to deliver anticancer drugs for effective and safe therapy for RAI-refractory DTC.
|
30584304 |
2018 |
|
Differentiated Thyroid Gland Carcinoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
The study population (Group A) included all patients with low-risk differentiated thyroid cancer (DTC) who underwent total thyroidectomy and RAI between 1/1/2006 to 9/11/2015 with intrathyroidal T1-T2, Nx, N0 or N1a (≤5 nodes all measuring, when reported, <2 mm) that had anti-thyroglobulin antibodies.
|
28510122 |
2017 |
|
Differentiated Thyroid Gland Carcinoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
Retrospective study of 62 patients with metastatic RAI-R DTC to determine clinical outcomes with median follow-up from initial diagnosis of 11.1 years (8.38, 14.1) (range, 1.2-20 years).
|
30015659 |
2018 |
|
Differentiated Thyroid Gland Carcinoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
In the last few years, several TKIs have been tested for the treatment of advanced, progressive and RAI-R thyroid cancers and some of them have been recently approved for use in clinical practice: sorafenib and lenvatinib for DTC and PDTC; vandetanib and cabozantinib for MTC.
|
28318881 |
2017 |
|
Differentiated Thyroid Gland Carcinoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
CI = confidence interval; cStage = clinical stage; DTC = differentiated thyroid cancer; NCDB = National Cancer Data Base; OR = odds ratio; pStage = pathologic stage; RAI = radioactive iodine.
|
29144811 |
2018 |
|
Differentiated Thyroid Gland Carcinoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
According to our program of TKI dose reduction and withdrawal, all patients except 2 with diabetes were successfully continuing treatment.Overall, the present results demonstrated that renal function is negatively affected by long-term TKI treatment for RAI-refractory DTC.
|
31626129 |
2019 |
|
Differentiated Thyroid Gland Carcinoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
Even where multimodal treatment was ineffective, lenvatinib was suggested to be an alternative treatment option for RAI refractory recurrent DTC and patient could have a chance to be controlled successfully.
|
29954369 |
2018 |
|
Primary differentiated carcinoma of thyroid gland
|
0.090 |
Biomarker
|
disease |
BEFREE |
<b>Abbreviations: BM</b> = bone metastases; <b>COX</b> = multivariate analyses; <b>DM</b> = distant metastases; <b>DSM</b> = disease-specific mortality; <b>DSS</b> = disease-specific survival; <b>DTC</b> = differentiated thyroid carcinoma; <b>ETE</b> = extrathyroidal extension; <b>LNM</b> = lymph node metastases; <b>OM</b> = overall mortality; <b>OS</b> = overall survival; <b>PTCFV</b> = papillary thyroid carcinoma; <b>RAI</b> = radioactive iodine; <b>SM</b> = spinal metastases; <b>SRE</b> = skeletal-related event; <b>txWBS</b> = whole-body scan after RAI therapy.
|
30657361 |
2019 |
|
Primary differentiated carcinoma of thyroid gland
|
0.090 |
Biomarker
|
disease |
BEFREE |
Even where multimodal treatment was ineffective, lenvatinib was suggested to be an alternative treatment option for RAI refractory recurrent DTC and patient could have a chance to be controlled successfully.
|
29954369 |
2018 |
|
Primary differentiated carcinoma of thyroid gland
|
0.090 |
Biomarker
|
disease |
BEFREE |
The study population (Group A) included all patients with low-risk differentiated thyroid cancer (DTC) who underwent total thyroidectomy and RAI between 1/1/2006 to 9/11/2015 with intrathyroidal T1-T2, Nx, N0 or N1a (≤5 nodes all measuring, when reported, <2 mm) that had anti-thyroglobulin antibodies.
|
28510122 |
2017 |
|
Primary differentiated carcinoma of thyroid gland
|
0.090 |
Biomarker
|
disease |
BEFREE |
Retrospective study of 62 patients with metastatic RAI-R DTC to determine clinical outcomes with median follow-up from initial diagnosis of 11.1 years (8.38, 14.1) (range, 1.2-20 years).
|
30015659 |
2018 |
|
Primary differentiated carcinoma of thyroid gland
|
0.090 |
Biomarker
|
disease |
BEFREE |
DTC = differentiated thyroid cancer; LASA = linear analog self-assessment; PR = partial response; QOL = quality of life; RAI = radioactive iodine; RAIR = RAI-resistant; RECIST = Response Evaluation Criteria In Solid Tumors; Tg = thyroglobulin; VEGFR = vascular endothelial growth factor receptor.
|
28816536 |
2017 |
|
Primary differentiated carcinoma of thyroid gland
|
0.090 |
Biomarker
|
disease |
BEFREE |
CI = confidence interval; cStage = clinical stage; DTC = differentiated thyroid cancer; NCDB = National Cancer Data Base; OR = odds ratio; pStage = pathologic stage; RAI = radioactive iodine.
|
29144811 |
2018 |