Results 1 to 10 of about 208,465 (197)

The ambiguous role of NKX2-5 mutations in thyroid dysgenesis. [PDF]

PLoS ONE, 2012
NKX2-5 is a homeodomain-containing transcription factor implied in both heart and thyroid development. Numerous mutations in NKX2-5 have been reported in individuals with congenital heart disease (CHD), but recently a select few have been associated with
Klaartje van Engelen, Mathilda T M Mommersteeg, Marieke J H Baars, Jan Lam, Aho Ilgun, A S Paul van Trotsenburg, Anne M J B Smets, Vincent M Christoffels, Barbara J M Mulder, Alex V Postma   +9 more
doaj   +11 more sources

Thyroid imaging study in children with suspected thyroid dysgenesis [PDF]

Annals of Pediatric Endocrinology & Metabolism, 2021
Purpose Thyroid dysgenesis is one of the most common causes of permanent congenital hypothyroidism. Thyroid ultrasonography or scan is used to detect thyroid dysgenesis.
Sangwoo Chun, Young Seok Lee, Jeesuk Yu
doaj   +5 more sources

Slc:Wistar/ST rats develop unilateral thyroid dysgenesis: A novel animal model of thyroid hemiagenesis. [PDF]

PLoS ONE, 2019
Developmental anomalies of the thyroid gland lead to congenital malformations such as thyroglossal duct cysts and thyroid dysgenesis. However, the pathogenesis of thyroid dysgenesis remains unclear due to the lack of suitable animal models.
Teppei Nakamura, Osamu Ichii, Yuji Sunden, Yaser Hosny Ali Elewa, Tomoji Yoshiyasu, Hideki Hattori, Osamu Tatsumi, Yasuhiro Kon, Ken-Ichi Nagasaki   +8 more
doaj   +3 more sources

Mutation screening in the genes PAX-8, NKX2-5, TSH-R, HES-1 in cohort of 63 Brazilian children with thyroid dysgenesis [PDF]

Archives of Endocrinology and Metabolism, 2018
Objective: To evaluate the candidate genes PAX-8, NKX2-5, TSH-R and HES-1 in 63 confirmed cases of thyroid dysgenesis. Subjects and methods: Characterization of patients with congenital hypothyroidism into specific subtypes of thyroid dysgenesis with ...
Taíse Lima de Oliveira Cerqueira, Yanne Rocha Ramos, Giorgia Bruna Strappa, Mariana Souza de Jesus, Jailciele Gonzaga Santos, Camila Sousa, Gildásio Carvalho, Vladimir Fernandes, Ney Boa-Sorte, Tatiana Amorim, Thiago Magalhães Silva, Ana Marice Teixeira Ladeia, Angelina Xavier Acosta, Helton Estrela Ramos   +13 more
doaj   +3 more sources

TUBB1 mutations cause thyroid dysgenesis associated with abnormal platelet physiology [PDF]

EMBO Molecular Medicine, 2018
The genetic causes of congenital hypothyroidism due to thyroid dysgenesis (TD) remain largely unknown. We identified three novel TUBB1 gene mutations that co‐segregated with TD in three distinct families leading to 1.1% of TUBB1 mutations in TD study ...
Athanasia Stoupa, Frédéric Adam, Dulanjalee Kariyawasam, Catherine Strassel, Sanjay Gawade, Gabor Szinnai, Alexandre Kauskot, Dominique Lasne, Carsten Janke, Kathiresan Natarajan, Alain Schmitt, Christine Bole‐Feysot, Patrick Nitschke, Juliane Léger, Fabienne Jabot‐Hanin, Frédéric Tores, Anita Michel, Arnold Munnich, Claude Besmond, Raphaël Scharfmann, François Lanza, Delphine Borgel, Michel Polak, Aurore Carré   +23 more
doaj   +3 more sources

A young boy with ventricular arrhythmias and thyroid dysgenesis: two genes are not enough? [PDF]

Archives of Endocrinology and Metabolism, 2023
Congenital hypothyroidism (CH) may be caused by biallelic variants in the TSHR gene. CH due to thyroid dysgenesis has also been linked to pathogenic variants of the nucleotide kinase 2, homeobox 5 (NKX2-5) gene, which can also cause sudden cardiac death ...
Roberto Franceschi, Evelina Maines, Maria Bellizzi, Francesca Rivieri, Andrea Bacca, Alessandra Filippi, Enza Maria Valente, Massimo Plumari, Massimo Soffiati, Monica Vincenzi, Francesca Teofoli, Marta Camilot   +11 more
doaj   +2 more sources

Deficiency of the HGF/Met pathway leads to thyroid dysgenesis by impeding late thyroid expansion [PDF]

Nature Communications
The mechanisms of bifurcation, a key step in thyroid development, are largely unknown. Here we find three zebrafish lines from a forward genetic screening with similar thyroid dysgenesis phenotypes and identify a stop-gain mutation in hgfa and two ...
Ya Fang, Jia-Ping Wan, Zheng Wang, Shi-Yang Song, Cao-Xu Zhang, Liu Yang, Qian-Yue Zhang, Chen-Yan Yan, Feng-Yao Wu, Sang-Yu Lu, Feng Sun, Bing Han, Shuang-Xia Zhao, Mei Dong, Huai-Dong Song   +14 more
doaj   +2 more sources

Agenesis and not ectopia is common in North Indian children with thyroid dysgenesis

Indian Journal of Endocrinology and Metabolism, 2014
Context: Ectopic Thyroid Gland (ETG) is known to be the most common form of thyroid dysgenesis in children with permanent congenital hypothyroidism (CH).
Devi Dayal, L Sindhuja, Anish Bhattacharya, Kushaljit Singh Sodhi, Naresh Sachdeva   +4 more
doaj   +2 more sources

Revealing the genotype-phenotype correlations of congenital hypothyroidism in Yunnan Province, Southwest China [PDF]

Frontiers in Endocrinology
ContextCongenital hypothyroidism (CH) is a congenital endocrine disorder with diverse clinical presentations. The genotype–phenotype relationship has recently become a focal point in genetic etiology research on CH.ObjectiveTo explore the correlation ...
Yinhong Zhang, Shiyu Wang, Aoyu Li, Wenjing Zhao, Fengyu Xia, Ying Chan, Junyue Lin, Xiaoyan Zhou, Suyun Li, Na Feng, Baosheng Zhu, Li Li   +11 more
doaj   +2 more sources

Evaluating Features of Congenital Primary Hypothyroidism and Its Outcomes in Mongolia

Central Asian Journal of Medical Sciences, 2021
Objectives: Our goal was to assess the outcomes of congenital primary hypothyroidism and evaluate forms of dysgenesis forms among children diagnosed with congenital primary hypothyroidism Methods: A cross-sectional study recruited all children diagnosed ...
Altantuya Tsevgee, Tsolmon Munkhchuluun, Naranchimeg Khurelbaatar, Gerelmaa Zagd, Erdenetuya Ganbaatar   +4 more
doaj   +1 more source