|
Thyroid Dysgenesis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Despite the arduous effort in unraveling the genetics of TD in animal models, up to now these data have been discontinuously confirmed in humans and only 5% of TD have associated with known null mice-related mutations (mainly PAX8 and TSHR).
|
31432505 |
2020 |
|
Thyroid Dysgenesis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
13.1% (12/92) of the cases showed variants in 'thyroid dysgenesis' (TD) genes: TSHR, n = 6; NKX2-1, n = 2; NKX2-5, n = 1; PAX8, n = 3.
|
30240412 |
2018 |
|
Thyroid Dysgenesis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The abnormal expression of certain transcription factors (NKX2.1, FOXE1, NKX2.5, and PAX8) and thyroid stimulating hormone receptor (TSHR) genes has been associated with athyreosis, which is a form of thyroid dysgenesis (TD).
|
28455095 |
2017 |
|
Thyroid Dysgenesis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We screened 453 unrelated Chinese patients with CH from thyroid dysgenesis for PAX8 mutations by sequencing the whole coding regions of PAX8 on genomic DNA isolated from blood.
|
28060725 |
2017 |
|
Thyroid Dysgenesis
|
0.400 |
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 |
|
Thyroid Dysgenesis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Extreme phenotypic variability of thyroid dysgenesis in six new cases of congenital hypothyroidism due to PAX8 gene loss-of-function mutations.
|
25214233 |
2014 |
|
Thyroid Dysgenesis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Here we describe two patients with TD and report two novel PAX8 gene mutations (S54R and R133Q).
|
23308388 |
2013 |
|
Thyroid Dysgenesis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We identified new heterozygous mutations in both NKX2.5 and PAX8 genes of a girl with TD.
|
21450989 |
2011 |
|
Thyroid Dysgenesis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Our aim was to identify and functionally characterize novel PAX8 mutations with autosomal dominant transmission responsible for TD.
|
20718765 |
2010 |
|
Thyroid Dysgenesis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We attempted to screen PAX8 gene mutation in 50 CH patients with thyroid dysgenesis.
|
20857061 |
2010 |
|
Thyroid Dysgenesis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
This review focuses on the genetics and phenomics of hypothyroidism and TD due to PAX8 and TTF1 mutations.
|
20302910 |
2010 |
|
Thyroid Dysgenesis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in TAZ/WWTR1, a co-activator of NKX2.1 and PAX8 are not a frequent cause of thyroid dysgenesis.
|
19542741 |
2009 |
|
Thyroid Dysgenesis
|
0.400 |
GeneticVariation
|
disease |
LHGDN |
Clinical analysis revealed distinct hormonal patterns in TH subgroup when compared with other variants of TD, with genetic abnormalities identified only in few cases in the TSH-R, PAX8, and NKX2.5 genes.
|
18976153 |
2009 |
|
Thyroid Dysgenesis
|
0.400 |
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 |
|
Thyroid Dysgenesis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
These findings confirm the contribution of mutations in the Pax8 gene to the etiology of thyroid dysgenesis with a variable penetrance, but also demonstrate the rare overall incidence in CH.
|
16763387 |
2006 |
|
Thyroid Dysgenesis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Thyroid hemiagenesis is a rare variant of thyroid dysgenesis with a familial component but without Pax8 mutations in a cohort of 22 cases.
|
15845640 |
2005 |
|
Thyroid Dysgenesis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the paired domain transcription factor PAX8 are a rare cause of congenital hypothyroidism due to thyroid dysgenesis.
|
15718293 |
2005 |
|
Thyroid Dysgenesis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The involvement of the candidate gene, PAX8, as the cause of thyroid dysgenesis in this family was partially excluded by linkage analysis, and the possibility of a de novo mutation excluded by sequencing.
|
15301052 |
2004 |
|
Thyroid Dysgenesis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
PAX8 is one of these transcription factors, and so far, five mutations have been identified in its paired domain in patients with thyroid dysgenesis.
|
15356023 |
2004 |
|
Thyroid Dysgenesis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Most permanent cases (80-85%) result from alterations in the formation of the thyroid gland during embryogenesis (thyroid dysgenesis), and several were shown recently to be produced by mutations in genes responsible for the development of thyroid follicular cells (TITF1, TITF2, PAX8 and TSHR).
|
10637573 |
2000 |
|
Thyroid Dysgenesis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The autosomal recessive inheritance of mutations of the thyroid-stimulating hormone receptor gene was recognized in patients with CH and thyroid hypoplasia, while autosomal dominant mutations of the Pax-8 gene were described in patients with thyroid dysgenesis.
|
10895037 |
2000 |
|
Thyroid Dysgenesis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Autosomal recessive inheritance of mutations of the thyrotrophin (TSH) receptor gene has also been reported in patients with CH and thyroid hypoplasia, and autosomal dominant mutations of the PAX8 gene have been described in patients with different forms of thyroid dysgenesis.
|
10102047 |
1999 |
|
Thyroid Dysgenesis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We report mutations in the coding region of PAX8 in two sporadic patients and one familial case of TD.
|
9590296 |
1998 |
|
Thyroid Dysgenesis
|
0.400 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
We report mutations in the coding region of PAX8 in two sporadic patients and one familial case of TD.
|
9590296 |
1998 |