Thyroid Dyshormonogenesis 1
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
MicroRNAs let7 expression in thyroid cancer: correlation with their deputed targets HMGA2 and SLC5A5.
|
26960757 |
2016 |
Thyroid Dyshormonogenesis 1
|
0.700 |
GermlineCausalMutation
|
disease |
ORPHANET |
Genetic causes of congenital hypothyroidism due to dyshormonogenesis.
|
21543982 |
2011 |
Thyroid Dyshormonogenesis 1
|
0.700 |
GermlineCausalMutation
|
disease |
ORPHANET |
Congenital hypothyroidism.
|
20537182 |
2010 |
Thyroid Dyshormonogenesis 1
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Extending the clinical heterogeneity of iodide transport defect (ITD): a novel mutation R124H of the sodium/iodide symporter gene and review of genotype-phenotype correlations in ITD.
|
16418213 |
2006 |
Thyroid Dyshormonogenesis 1
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
A novel mutation in the sodium/iodide symporter gene in the largest family with iodide transport defect.
|
10487695 |
1999 |
Thyroid Dyshormonogenesis 1
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Novel, missense and loss-of-function mutations in the sodium/iodide symporter gene causing iodide transport defect in three Japanese patients.
|
9745458 |
1998 |
Thyroid Dyshormonogenesis 1
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Congenital hypothyroidism due to mutations in the sodium/iodide symporter. Identification of a nonsense mutation producing a downstream cryptic 3' splice site.
|
9486973 |
1998 |
Thyroid Dyshormonogenesis 1
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Congenital hypothyroidism caused by a mutation in the Na+/I- symporter.
|
9171822 |
1997 |
Thyroid Dyshormonogenesis 1
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Congenital hypothyroidism caused by a mutation in the Na+/I- symporter.
|
9171822 |
1997 |
Thyroid Dyshormonogenesis 1
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Thyroid Dyshormonogenesis 1
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
Goiter
|
0.460 |
Biomarker
|
phenotype |
BEFREE |
Regulation of thyroid sodium-iodide symporter in different stages of goiter: Possible involvement of reactive oxygen species.
|
29112772 |
2018 |
Goiter
|
0.460 |
GeneticVariation
|
phenotype |
BEFREE |
Iodide transport defect (ITD) is an infrequent condition associated with congenital dyshormonogenetic goiter due to mutations in the Na(+)/I(-) symporter (NIS) gene transmitted in an autosomal recessive manner.
|
21054210 |
2010 |
Goiter
|
0.460 |
GeneticVariation
|
phenotype |
BEFREE |
Genetics and phenomics of hypothyroidism and goiter due to NIS mutations.
|
20153805 |
2010 |
Goiter
|
0.460 |
GeneticVariation
|
phenotype |
BEFREE |
Congenital hypothyroidism and late-onset goiter: identification and characterization of a novel mutation in the sodium/iodide symporter of the proband and family members.
|
19916865 |
2009 |
Goiter
|
0.460 |
GeneticVariation
|
phenotype |
LHGDN |
Biallelic mutations in the NIS gene lead to a congenital iodide transport defect, an autosomal recessive condition characterized by hypothyroidism, goiter, low thyroid iodide uptake, and a low saliva/plasma iodide ratio.
|
19196800 |
2009 |
Goiter
|
0.460 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
Extending the clinical heterogeneity of iodide transport defect (ITD): a novel mutation R124H of the sodium/iodide symporter gene and review of genotype-phenotype correlations in ITD.
|
16418213 |
2006 |
Goiter
|
0.460 |
Biomarker
|
phenotype |
BEFREE |
Apart from these therapeutic and diagnostic perspectives the availability of the NIS gene will also open new opportunities to develop sensitive and homologous diagnostic test systems to identify factors involved in autoimmune thyroid disease, evolution of goitre, adenoma and thyroid cancer as well as NIS-directed new drugs.
|
9865544 |
1998 |
Goiter
|
0.460 |
Biomarker
|
phenotype |
HPO |
|
|
|
Malignant Neoplasms
|
0.400 |
Biomarker
|
group |
BEFREE |
The advent of NIS-based <i>in vivo</i> imaging and theranostic strategies in other malignancies and disease modalities has recently increased the clinical importance of NIS.
|
31672844 |
2020 |
Thyroid Neoplasm
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
In an in vivo orthotopic model, the enhancement of miR-875-5p led to the reduction of NIS expression and radioiodine uptake in the thyroid tumors.
|
31612419 |
2020 |
Thyroid Neoplasm
|
0.400 |
Biomarker
|
disease |
BEFREE |
NIS has been exploited for over 75 years in ablative radioiodine (RAI) treatment of thyroid cancer, where its ability to transport radioisotopes depends on its localization to the plasma membrane.
|
31672844 |
2020 |
Thyroid carcinoma
|
0.400 |
Biomarker
|
disease |
BEFREE |
NIS has been exploited for over 75 years in ablative radioiodine (RAI) treatment of thyroid cancer, where its ability to transport radioisotopes depends on its localization to the plasma membrane.
|
31672844 |
2020 |
Liver carcinoma
|
0.400 |
Biomarker
|
disease |
BEFREE |
A retrospective database analysis using the NIS was performed between 2010 and 2013 including adult patients with a primary diagnosis of HCC determined by ICD-9 codes.
|
31040093 |
2020 |
Malignant neoplasm of breast
|
0.400 |
Biomarker
|
disease |
BEFREE |
Thus, this study shows the important role of mannosidase in N-glycosylation processing in order to correctly traffic NIS to the plasma membrane in breast cancer cells.This article has an associated First Person interview with the first author of the paper.
|
31455607 |
2019 |