Congenital Hypothyroidism
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Thyroid Hypoplasia in Congenital Hypothyroidism Associated with Thyroid Peroxidase Mutations.
|
29790453 |
2018 |
Congenital Hypothyroidism
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Congenital hypothyroidism (CH) resulting from inactivating mutations in the DUOX2 gene highlighted that DUOX2 is the major H<sub>2</sub>O<sub>2</sub> provider to thyroperoxidase.
|
29845893 |
2018 |
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 |
GeneticVariation
|
disease |
BEFREE |
Thyroid peroxidase (TPO) deficiency, caused by biallelic TPO mutations, is a well-established genetic form of congenital hypothyroidism (CH).
|
28867693 |
2017 |
Congenital Hypothyroidism
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Our study indicated that the prevalence of TPO mutations was 1% among studied Chinese patients with CH.
|
27173810 |
2016 |
Congenital Hypothyroidism
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Biallelic TG or TPO mutations most commonly underlie severe CH.
|
27525530 |
2016 |
Congenital Hypothyroidism
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
From a patient with clinical and biochemical criteria suggestive with CH associated with IOD, TPO and DUOX2 genes were analyzed by means of PCR-Single Strand Conformation Polymorphism analysis and sequencing.
|
26506010 |
2016 |
Congenital Hypothyroidism
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
We report a 26-year-old German-Thai male with congenital hypothyroidism caused by a compound heterozygous mutation in the thyroid peroxidase (TPO) gene.
|
26761947 |
2016 |
Congenital Hypothyroidism
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
High prevalence of DUOX2 mutations in Japanese patients with permanent congenital hypothyroidism or transient hypothyroidism.
|
27166716 |
2016 |
Congenital Hypothyroidism
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Compound heterozygous mutations (p.T561M and c.2422delT) in the TPO gene associated with congenital hypothyroidism.
|
27135621 |
2016 |
Congenital Hypothyroidism
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
A Homozygous Nonsense Thyroid Peroxidase Mutation (R540X) Consistently Causes Congenital Hypothyroidism in Two Siblings Born to a Consanguineous Family.
|
26777044 |
2015 |
Congenital Hypothyroidism
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Absract Purpose: Mutations in the TPO gene have been reported to cause congenital hypothyroidism (CH), and our aim in this study was to determine the genetic basis of congenital hypothyroidism in two affected children coming from a consanguineous family.
|
25328990 |
2015 |
Congenital Hypothyroidism
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
We present an 8-day-old male with mild CH who was identified to have a G to A transition in the fifth codon of the TPO gene (c.13G>A; p.Ala5Thr).
|
26831560 |
2015 |
Congenital Hypothyroidism
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Novel genetic variants in the TPO gene cause congenital hypothyroidism.
|
26174974 |
2015 |
Congenital Hypothyroidism
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The aim of this study was to screen for DUOX2, TPO and TG mutations in Chinese patients with congenital hypothyroidism (CH) and goitre and to define the relationships between DUOX2 genotypes and clinical phenotypes.
|
24735383 |
2014 |
Congenital Hypothyroidism
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
This study demonstrates that a single base deletion in the carboxyl-terminal coding region of the TPO gene could cause CH and helps to establish a genotype/phenotype correlation associated with the mutation.
|
25241611 |
2014 |
Congenital Hypothyroidism
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Defects in the thyroid peroxidase (TPO) gene have been associated with goitrous congenital hypothyroidism (CH).
|
24717978 |
2014 |
Congenital Hypothyroidism
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
In this report, we presented two children with CH who were born to consanguineous parents and were homozygous carriers of a missense (G319R) TPO mutation, the mutation segregated with the disease status in the families confirming its pathogenicity.
|
24158420 |
2014 |
Congenital Hypothyroidism
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, the c.2268dup mutation leads to the formation of normal and alternatively spliced TPO mRNA transcripts with a consequential loss of TPO enzymatic activity in Malaysian-Chinese patients with goitrous CH.
|
24745015 |
2014 |
Congenital Hypothyroidism
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the TPO gene are common in congenital hypothyroidism, and there are also signs of the implication of TPO in thyroid cancer.
|
23754668 |
2013 |
Congenital Hypothyroidism
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The occurrence of thyroid carcinoma in patients with congenital hypothyroidism (CH) caused by dyshormonogenesis is very rare, and has only been reported in one patient harboring mutations in the thyroid peroxidase (TPO) gene.
|
22435912 |
2012 |
Congenital Hypothyroidism
|
0.900 |
Biomarker
|
disease |
BEFREE |
Our findings confirm the genetic heterogeneity of TPO defects and the importance of the implementation of molecular studies to determinate the aetiology of the CH with dyshormonogenesis.
|
21981063 |
2012 |
Congenital Hypothyroidism
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Congenital hypothyroidism is a common genetic disorder in which the majority of mutations occur in the TSHR and TPO genes.
|
21707688 |
2011 |
Congenital Hypothyroidism
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Monoallelic thyroid peroxidase gene mutation in a patient with congenital hypothyroidism with total iodide organification defect.
|
21340161 |
2010 |
Congenital Hypothyroidism
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
More subjects should be screened for detecting the prevalence and spectrum profile of TPO mutations in our population that might be helpful for understanding the pathophysiology of congenital hypothyroidism.
|
20963560 |
2010 |