Congenital Hypothyroidism
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Our study indicated that the prevalence of TSHR mutations was 5.91% among studied Chinese patients with CH.
|
31356790 |
2019 |
Congenital Hypothyroidism
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
TG and TSHR mutations are the most common genetic defects in Saudi patients with CH.
|
29546359 |
2018 |
Congenital Hypothyroidism
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
In several cases, frameshift and/or nonsense mutations in TSHR were found in the patients with congenital hypothyroidism (CH), however they have not been functionally studied in an animal model.
|
29507327 |
2018 |
Congenital Hypothyroidism
|
0.900 |
Biomarker
|
disease |
BEFREE |
Neonatal screening for congenital hypothyroidism was positive in half of the TSHR carriers.
|
28561265 |
2017 |
Congenital Hypothyroidism
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Gene variants have been reported to be associated with congenital hypothyroidism (CH), the purpose of this study was to analyze the mutation spectrum and prevalence of 12 known causative genes (TSHR, PAX8, NKX2.1, NKX2.5, FOXE1, DUOX2, TG, TPO, GLIS3, NIS, SLC26A4 and DEHAL1) in CH in China.
|
28215547 |
2017 |
Congenital Hypothyroidism
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Next-generation sequencing of NKX2.1, FOXE1, PAX8, NKX2.5, and TSHR in 100 Chinese patients with congenital hypothyroidism and athyreosis.
|
28455095 |
2017 |
Congenital Hypothyroidism
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Next-generation sequencing of NKX2.1, FOXE1, PAX8, NKX2.5, and TSHR in 100 Chinese patients with congenital hypothyroidism and athyreosis.
|
28455095 |
2017 |
Congenital Hypothyroidism
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
A frequent oligogenic involvement in congenital hypothyroidism.
|
28444304 |
2017 |
Congenital Hypothyroidism
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Determining the frequency of pathogenic germline variants from exome sequencing in patients with castrate-resistant prostate cancer.
|
27084275 |
2016 |
Congenital Hypothyroidism
|
0.900 |
Biomarker
|
disease |
BEFREE |
Our objective was to evaluate the contribution and molecular spectrum of mutations in eight known causative genes (TG, TPO, DUOX2, DUOXA2, SLC5A5, SLC26A4, IYD, and TSHR) in CH cases with GIS.
|
27525530 |
2016 |
Congenital Hypothyroidism
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Next-generation sequencing analysis of TSHR in 384 Chinese subclinical congenital hypothyroidism (CH) and CH patients.
|
27637299 |
2016 |
Congenital Hypothyroidism
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
DUOX2 Mutations Are Frequently Associated With Congenital Hypothyroidism in the Korean Population.
|
26709262 |
2016 |
Congenital Hypothyroidism
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Four (1.6%) of 240 patients with CH harbored TSHR variants combined with another monoallelic mutation in either DUOX2 or TG gene.
|
27637299 |
2016 |
Congenital Hypothyroidism
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Our objective was to evaluate the contribution and molecular spectrum of mutations in eight known causative genes (TG, TPO, DUOX2, DUOXA2, SLC5A5, SLC26A4, IYD, and TSHR) in CH cases with GIS.
|
27525530 |
2016 |
Congenital Hypothyroidism
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Seven different recurrent mutations [p.G488R (n=13), p.A649E (n=3), p.R885Q (n=3), p.I1080T (n=2), and p.A1206T (n=2) in DUOX2; p.Y138X (n=9) in DUOXA2; and p.R450H (n=5) in TSHR) were identified as the mutations underlying CH.
|
26709262 |
2016 |
Congenital Hypothyroidism
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
These findings indicate that two novel inactivating mutations (p.R528C and c.392+4del4) in the TSHR gene can cause CHNG.
|
26864598 |
2016 |
Congenital Hypothyroidism
|
0.900 |
Biomarker
|
disease |
BEFREE |
The TSHR gene was sequenced in 94 subjects (aged 3 days-21 years) with either nonautoimmune SCH or CH with RTSH.
|
25557138 |
2015 |
Congenital Hypothyroidism
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
We aimed to explore TSH receptor (TSHR) mutations in a cohort of Hungarian patients with CH.
|
25978107 |
2015 |
Congenital Hypothyroidism
|
0.900 |
Biomarker
|
disease |
BEFREE |
The clinical and molecular phenotype of patients with CH will be better defined thanks to novel genetic approach based on the systematic analysis of a panel of genes (TSHR, DUOX2, DUOXA, TPO, PDS, TG, NKX2.1, JAG1, GLIS3, FOXE1, PAX-8).
|
25916430 |
2015 |
Congenital Hypothyroidism
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
He needed levothyroxine (l-T4) replacement therapy to keep serum TSH levels within normal limits; l-T4 dose of 2.01-2.65 μg/kg/day corresponded to the dose taken by children homozygous for R450H-TSHR and by children with permanent congenital hypothyroidism.
|
25928756 |
2015 |
Congenital Hypothyroidism
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The aim of this study was to characterize a novel TSHR gene variant found in one patient harboring congenital hypothyroidism (CH) from a cohort of patients with various types of thyroid defects.
|
25153578 |
2015 |
Congenital Hypothyroidism
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Frequency and clinical implication of the R450H mutation in the thyrotropin receptor gene in the Japanese population detected by Smart Amplification Process 2.
|
24895636 |
2014 |
Congenital Hypothyroidism
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Here we conclude that thyroid agenesis in both siblings in this study originates from c.317+1G>A splice site mutation in the TSHR gene, and this study underlines the importance of detailed molecular genetic studies in the definitive diagnosis and classification of CH.
|
24859513 |
2014 |
Congenital Hypothyroidism
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Here we conclude that CH in both siblings of this study originates from a large deletion including the exon 2 of the TSHR gene.
|
24690939 |
2014 |
Congenital Hypothyroidism
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The thyroid-stimulating hormone receptor (TSHR) is the main known gene causing thyroid dysgenesis in consanguineous families with CH.
|
24945425 |
2014 |