Congenital Hypothyroidism
|
0.700 |
Biomarker
|
disease |
BEFREE |
Genes associated with thyroid gland dysgenesis include the TSH receptor in non-syndromic congenital hypothyroidism, and Gsalpha and the thyroid transcription factors (TTF-1, TTF-2, and Pax-8), associated with different complex syndromes that include congenital hypothyroidism.
|
15863666 |
2005 |
Congenital Hypothyroidism
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The contribution of mutations in PAX8 gene in children with CH and dysgenetic thyroid glands still remains a subject of interest for researchers.
|
25720050 |
2015 |
Congenital Hypothyroidism
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We aim to identify and characterize PAX8 mutations in a large cohort of congenital hypothyroidism(CH) from thyroid dysgenesis in Chinese population.
|
28060725 |
2017 |
Congenital Hypothyroidism
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The patient was a 40-yr-old female, whose two children had congenital hypothyroidism and an inactivating PAX8 mutation (p.K80_A84dup).
|
21976720 |
2011 |
Congenital Hypothyroidism
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
PAX8 mutations in congenital hypothyroidism due to dysgenetic or orthotopic thyroid glands are rare.PAX8-T225M is probably a rare variant.
|
17437516 |
2007 |
Congenital Hypothyroidism
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
To search for PAX8 mutations in a cohort of patients with congenital hypothyroidism (CH) and various types of thyroid gland defects.
|
25214233 |
2014 |
Congenital Hypothyroidism
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Here, we describe a novel mutation of PAX8 causing autosomal dominant transmission of CH with thyroid hypoplasia.
|
11232006 |
2001 |
Congenital Hypothyroidism
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Thyroid-specific transcription factor PAX8 has an indispensable role in the thyroid gland development, which is evidenced by the facts that PAX8/Pax8 mutations cause congenital hypothyroidism in humans and mice.
|
30730849 |
2019 |
Congenital Hypothyroidism
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In humans, mutations of the Pax8 gene, which are mapped to the coding region of the Prd domain, give rise to congenital hypothyroidism.
|
10377248 |
1999 |
Congenital Hypothyroidism
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Four girls with sporadic congenital hypothyroidism and hypoplastic thyroid glands were analyzed for mutations in PAX8 and TTF2 (FKHL15).
|
11502839 |
2001 |
Congenital Hypothyroidism
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
The persistent CH in this patient with DS is likely to be attributable to the diminished PAX8 expression due to a new heterozygous mutation in the PAX8 promoter sequence.
|
24499175 |
2014 |
Congenital Hypothyroidism
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The objective of this study was to analyze the PAX8 gene in 32 children with congenital hypothyroidism due to thyroid dysgenesis for mutations, and to characterize the functional consequences of the mutations.
|
26495924 |
2016 |
Congenital Hypothyroidism
|
0.700 |
GeneticVariation
|
disease |
LHGDN |
PAX8 mutations in congenital hypothyroidism due to dysgenetic or orthotopic thyroid glands are rare.PAX8-T225M is probably a rare variant.
|
17437516 |
2007 |
Congenital Hypothyroidism
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Analysis of the PAX8 gene in congenital hypothyroidism caused by different forms of thyroid dysgenesis in a father and daughter.
|
15301052 |
2004 |
Congenital Hypothyroidism
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
This study aimed to identify and characterize PAX8 mutations and explore the prevalence of its mutations in another cohort of CH.
|
30888984 |
2019 |
Congenital Hypothyroidism
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The objective of this study was to screen the PAX8 gene and the PAX2 gene in a family with six cases of CH spanning three generations and presenting urogenital malformations.
|
23647375 |
2013 |
Congenital Hypothyroidism
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in NKX2.1, NKX2.5, FOXE1 and PAX8 genes, encoding for transcription factors involved in the development of the thyroid gland, have been identified in a minority of patients with syndromic and non-syndromic congenital hypothyroidism (CH).
|
17468187 |
2007 |
Congenital Hypothyroidism
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The aim of this study was to analyse the PAX8 gene sequence in several members of the same family in order to understand whether the variable phenotypic expression, ranging from congenital hypothyroidism with thyroid hypoplasia to mild subclinical hypothyroidism, could be associated to the genetic variant in the PAX8 gene, detected in the proband.
|
25146893 |
2014 |
Congenital Hypothyroidism
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Thyroid dysgenesis may be associated with mutations in the paired box transcription factor 8 (PAX8) gene and is characterized by congenital hypothyroidism transmitted in an autosomal dominant mode.
|
17980011 |
2008 |
Congenital Hypothyroidism
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
It has remained unclear whether CH in PAX8 mutation carriers is caused by haploinsufficiency or a dominant negative mechanism.
|
22898500 |
2012 |
Congenital Hypothyroidism
|
0.700 |
Biomarker
|
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
|
0.700 |
Biomarker
|
disease |
MGD |
|
|
|
Congenital Hypothyroidism
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
All exons of the 11 known CH associated genes including PAX8 together with their exon-intron boundaries were screened by next-generation sequencing (NGS).
|
26362610 |
2015 |
Congenital Hypothyroidism
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
These results indicate that loss of function mutations of the PAX8 gene may cause congenital hypothyroidism in the absence of thyroid hypoplasia.
|
15356023 |
2004 |
Congenital Hypothyroidism
|
0.700 |
Biomarker
|
disease |
HPO |
|
|
|