DNA methylation at a nutritionally sensitive region of the PAX8 gene is associated with thyroid volume and function in Gambian children
T Candler, NJ Kessler, CJ Gunasekara, KA Ward… - Science …, 2021 - science.org
PAX8 is a key thyroid transcription factor implicated in thyroid gland differentiation and
function, and PAX8 gene methylation is reported to be sensitive to the periconceptional …
function, and PAX8 gene methylation is reported to be sensitive to the periconceptional …
Comparative genomics reveals a functional thyroid-specific element in the far upstream region of the PAX8 gene
Background The molecular mechanisms leading to a fully differentiated thyrocite are still
object of intense study even if it is well known that thyroglobulin, thyroperoxidase, NIS and …
object of intense study even if it is well known that thyroglobulin, thyroperoxidase, NIS and …
Genome-wide analysis of Pax8 binding provides new insights into thyroid functions
S Ruiz-Llorente, ECS de Pau, A Sastre-Perona… - BMC genomics, 2012 - Springer
Abstract Background The transcription factor Pax8 is essential for the differentiation of
thyroid cells. However, there are few data on genes transcriptionally regulated by Pax8 other …
thyroid cells. However, there are few data on genes transcriptionally regulated by Pax8 other …
Functional Analysis of the Murine Pax8 Promoter Reveals Autoregulation and the Presence of a Novel Thyroid-Specific DNA-Binding Activity
A Di Gennaro, O Spadaro, MG Baratta, M De Felice… - Thyroid, 2013 - liebertpub.com
Background: Organogenesis of the thyroid gland requires the Pax8 protein. Absence or
reduction of Pax8 results in congenital hypothyroidism in animal models and humans …
reduction of Pax8 results in congenital hypothyroidism in animal models and humans …
Identification of novel Pax8 targets in FRTL-5 thyroid cells by gene silencing and expression microarray analysis
Background The differentiation program of thyroid follicular cells (TFCs), by far the most
abundant cell population of the thyroid gland, relies on the interplay between sequence …
abundant cell population of the thyroid gland, relies on the interplay between sequence …
[HTML][HTML] Identification and characterization of novel PAX8 mutations in Congenital Hypothyroidism (CH) in a Chinese population
S Liu, X Wang, H Zou, Y Ge, F Wang, Y Wang, S Yan… - Oncotarget, 2017 - ncbi.nlm.nih.gov
Objective Based on mutations in PAX8 is associated with thyroid dysgenesis. We aim to
identify and characterize PAX8 mutations in a large cohort of congenital hypothyroidism …
identify and characterize PAX8 mutations in a large cohort of congenital hypothyroidism …
Characterization of a novel loss‐of‐function mutation of PAX8 associated with congenital hypothyroidism
T Di Palma, E Zampella, MG Filippone… - Clinical …, 2010 - Wiley Online Library
Background Congenital hypothyroidism (CH) is a common endocrine disease that occurs in
about 1: 3000 newborns. In 80–85% of the cases, CH is presumably secondary to thyroid …
about 1: 3000 newborns. In 80–85% of the cases, CH is presumably secondary to thyroid …
Identification of a novel pax8 gene sequence variant in four members of the same family: from congenital hypothyroidism with thyroid hypoplasia to mild subclinical …
M Vincenzi, M Camilot, E Ferrarini, F Teofoli… - BMC Endocrine …, 2014 - Springer
Background Congenital hypothyroidism is often secondary to thyroid dysgenesis, including
thyroid agenesis, hypoplasia, ectopic thyroid tissue or cysts. Loss of function mutations in …
thyroid agenesis, hypoplasia, ectopic thyroid tissue or cysts. Loss of function mutations in …
Maternal high estradiol exposure is associated with elevated thyroxine and Pax8 in mouse offspring
PP Lv, S Tian, C Feng, JY Li, DQ Yu, L Jin, Y Shen… - Scientific Reports, 2016 - nature.com
Our previous studies have shown that maternal high estradiol (E2) environment increased
the risk of thyroid dysfunction in offspring. However, the mechanism involved remains …
the risk of thyroid dysfunction in offspring. However, the mechanism involved remains …
Phenotypic Variability of Patients With PAX8 Variants Presenting With Congenital Hypothyroidism and Eutopic Thyroid
N Camats, N Baz-Redón… - The Journal of …, 2021 - academic.oup.com
Purpose Thyroid dyshormonogenesis is a heterogeneous group of hereditary diseases
produced by a total/partial blockage of the biochemical processes of thyroid-hormone …
produced by a total/partial blockage of the biochemical processes of thyroid-hormone …