|
Familial dyshormonogenetic goiter
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Sequencing-based analysis of TPO gene revealed four mutations in 36 diagnosed patients with TDH including three nonsynonymous mutations, namely, p.Ala373Ser, p.Ser398Thr, and p.Thr725Pro, and one synonymous mutation p.Pro715Pro.
|
30915365 |
2019 |
|
Familial dyshormonogenetic goiter
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We utilized next-generation sequencing to screen for mutations in seven DH-associated genes (TPO, DUOX2, TG, DUOXA2, SLC26A4, SLC5A5, and IYD) in 21 Chinese Han patients with DH from Xinjiang Province.
|
30154845 |
2018 |
|
Familial dyshormonogenetic goiter
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The variants in 'dyshormonogenesis' (DH) genes were found in 84.8% (78/92) of cases: TPO, n = 30; DUOX2, n = 24; TG, n = 8; SLC5A5, n = 3; SLC26A4, n = 6; IYD, n = 1.8 patients showed oligonenic variants.
|
30240412 |
2018 |
|
Familial dyshormonogenetic goiter
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Defects in the human thyroid peroxidase (TPO) gene are reported to be one of the causes of congenital hypothyroidism (CH) due to dyshormonogenesis.
|
27173810 |
2016 |
|
Familial dyshormonogenetic goiter
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
However, in populations where resources for screening and detection are limited, and especially where consanguineous marriages are common, mutations in genes involved in thyroid function may also be causes of ID, and as TPO and TG mutations are the most common genetic causes of TDH, these are also likely to be relatively common causes of ID.
|
27305979 |
2016 |
|
Familial dyshormonogenetic goiter
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Congenital hypothyroidism and thyroid dyshormonogenesis: a case report of siblings with a newly identified mutation in thyroperoxidase.
|
26894573 |
2016 |
|
Familial dyshormonogenetic goiter
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The detection of the novel c.670_672del and c.1186C>T alterations expand the mutation spectrum of TPO associated with thyroid dyshormonogenesis.
|
25564141 |
2015 |
|
Familial dyshormonogenetic goiter
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Segregation of S292F TPO gene mutation in three large Tunisian families with thyroid dyshormonogenesis: evidence of a founder effect.
|
25968604 |
2015 |
|
Familial dyshormonogenetic goiter
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Thyroid peroxidase (TPO) gene is the most common cause for dyshormonogenesis.
|
26831560 |
2015 |
|
Familial dyshormonogenetic goiter
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
One of the most common mechanisms to cause dyshormonogenesis is a defect in the thyroid peroxidase (TPO) enzyme.
|
24158420 |
2014 |
|
Familial dyshormonogenetic goiter
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
TPO had the highest potential for linkage and we identified 21 TPO mutations in 28 TDH cases showing potential linkage to this locus.
|
23236987 |
2013 |
|
Familial dyshormonogenetic goiter
|
0.100 |
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 |
|
Familial dyshormonogenetic goiter
|
0.100 |
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 |
|
Familial dyshormonogenetic goiter
|
0.100 |
Biomarker
|
disease |
BEFREE |
The majority of patients with dyshormonogenesis have a defect in thyroid peroxidase (TPO).
|
20101889 |
2009 |
|
Familial dyshormonogenetic goiter
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The results showed a higher prevalence of TPO gene mutations in thyroid dyshormonogenesis when compared with published studies.
|
17468186 |
2007 |
|
Familial dyshormonogenetic goiter
|
0.100 |
Biomarker
|
disease |
BEFREE |
Pendred syndrome (PS) and thyroid peroxidase (TPO) deficiency are autosomal-recessive disorders that result in thyroid dyshormonogenesis.
|
16684826 |
2006 |
|
Familial dyshormonogenetic goiter
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A defect in thyroid peroxidase is a common cause of dyshormonogenesis of the thyroid gland in Taiwanese, with a novel mutation (2268insT) present in nearly 90% of alleles studied.
|
15613581 |
2005 |
|
Familial dyshormonogenetic goiter
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The mutation of the thyroid peroxidase (TPO) gene that causes the total iodide organification defect (TIOD) is a common and severe condition leading to dyshormonogenesis of the thyroid gland in Caucasians.
|
12213873 |
2002 |
|
Familial dyshormonogenetic goiter
|
0.100 |
Biomarker
|
disease |
BEFREE |
Thyroid peroxidase (TPO) deficiency is one of the causes of thyroid dyshormonogenesis, because TPO plays a key role in thyroid hormone biosynthesis.
|
11916616 |
2002 |
|
Familial dyshormonogenetic goiter
|
0.100 |
Biomarker
|
disease |
BEFREE |
The above abnormalities of TPO molecules may play an important role in our patient's dyshormonogenesis.
|
8550781 |
1996 |
|
Familial dyshormonogenetic goiter
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The first mutations in the Tg and TPO genes responsible for human cases of dyshormonogenesis have been described.
|
7549998 |
1994 |