Literature DB >> 27241962

Update of Thyroid Developmental Genes.

Athanasia Stoupa1, Dulanjalee Kariyawasam2, Aurore Carré3, Michel Polak4.   

Abstract

Thyroid dysgenesis (TD) is the most common cause of congenital hypothyroidism in iodine-sufficient regions and includes a spectrum of developmental anomalies. The genetic components of TD are complex. Although a sporadic disease, advances in developmental biology have revealed monogenetic forms of TD. Inheritance is not based on a simple Mendelian pattern and additional genetic elements might contribute to the phenotypic spectrum. This article summarizes the key steps of normal thyroid development and provides an update on responsible genes and underlying mechanisms of TD. Up-to-date technologies in genetics and biology will allow us to advance in our knowledge of TD.
Copyright © 2016 Elsevier Inc. All rights reserved.

Entities:  

Keywords:  Congenital hypothyroidism; Epigenetics; Genetics; Mendelian inheritance; Thyroid development; Thyroid dysgenesis; Thyroid gland; Transcription factors

Mesh:

Substances:

Year:  2016        PMID: 27241962     DOI: 10.1016/j.ecl.2016.01.007

Source DB:  PubMed          Journal:  Endocrinol Metab Clin North Am        ISSN: 0889-8529            Impact factor:   4.741


  9 in total

1.  GLIS3 is indispensable for TSH/TSHR-dependent thyroid hormone biosynthesis and follicular cell proliferation.

Authors:  Hong Soon Kang; Dhirendra Kumar; Grace Liao; Kristin Lichti-Kaiser; Kevin Gerrish; Xiao-Hui Liao; Samuel Refetoff; Raja Jothi; Anton M Jetten
Journal:  J Clin Invest       Date:  2017-10-30       Impact factor: 14.808

Review 2.  Genetics of congenital hypothyroidism: Modern concepts.

Authors:  Athanasia Stoupa; Dulanjalee Kariyawasam; Michel Polak; Aurore Carré
Journal:  Pediatr Investig       Date:  2022-05-14

3.  Rtfc (4931414P19Rik) Regulates in vitro Thyroid Differentiation and in vivo Thyroid Function.

Authors:  Yang Yu; Chang Liu; Junxia Zhang; Mimi Zhang; Wei Wen; Xianhui Ruan; Dapeng Li; Shuang Zhang; Ming Gao; Lingyi Chen
Journal:  Sci Rep       Date:  2017-02-23       Impact factor: 4.379

4.  The genetic characteristics of congenital hypothyroidism in China by comprehensive screening of 21 candidate genes.

Authors:  Feng Sun; Jun-Xiu Zhang; Chang-Yi Yang; Guan-Qi Gao; Wen-Bin Zhu; Bing Han; Le-Le Zhang; Yue-Yue Wan; Xiao-Ping Ye; Yu-Ru Ma; Man-Man Zhang; Liu Yang; Qian-Yue Zhang; Wei Liu; Cui-Cui Guo; Gang Chen; Shuang-Xia Zhao; Ke-Yi Song; Huai-Dong Song
Journal:  Eur J Endocrinol       Date:  2018-04-12       Impact factor: 6.664

Review 5.  Congenital Hypothyroidism: A 2020-2021 Consensus Guidelines Update-An ENDO-European Reference Network Initiative Endorsed by the European Society for Pediatric Endocrinology and the European Society for Endocrinology.

Authors:  Paul van Trotsenburg; Athanasia Stoupa; Juliane Léger; Tilman Rohrer; Catherine Peters; Laura Fugazzola; Alessandra Cassio; Claudine Heinrichs; Veronique Beauloye; Joachim Pohlenz; Patrice Rodien; Regis Coutant; Gabor Szinnai; Philip Murray; Beate Bartés; Dominique Luton; Mariacarolina Salerno; Luisa de Sanctis; Mariacristina Vigone; Heiko Krude; Luca Persani; Michel Polak
Journal:  Thyroid       Date:  2021-03       Impact factor: 6.568

6.  TUBB1 mutations cause thyroid dysgenesis associated with abnormal platelet physiology.

Authors:  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
Journal:  EMBO Mol Med       Date:  2018-12       Impact factor: 12.137

7.  High Diagnostic Yield of Targeted Next-Generation Sequencing in a Cohort of Patients With Congenital Hypothyroidism Due to Dyshormonogenesis.

Authors:  Athanasia Stoupa; Ghada Al Hage Chehade; Rim Chaabane; Dulanjalee Kariyawasam; Gabor Szinnai; Sylvain Hanein; Christine Bole-Feysot; Cécile Fourrage; Patrick Nitschke; Caroline Thalassinos; Graziella Pinto; Mouna Mnif; Sabine Baron; Marc De Kerdanet; Rachel Reynaud; Pascal Barat; Mongia Hachicha; Neila Belguith; Michel Polak; Aurore Carré
Journal:  Front Endocrinol (Lausanne)       Date:  2021-02-22       Impact factor: 5.555

8.  Identification of ZBTB26 as a Novel Risk Factor for Congenital Hypothyroidism.

Authors:  Philipp Vick; Birgit Eberle; Daniela Choukair; Birgit Weiss; Ralph Roeth; Isabelle Schneider; Nagarajan Paramasivam; Markus Bettendorf; Gudrun A Rappold
Journal:  Genes (Basel)       Date:  2021-11-24       Impact factor: 4.096

9.  Upregulation of GBP1 in thyroid primordium is required for developmental thyroid morphogenesis.

Authors:  Rui-Meng Yang; Ming Zhan; Qin-Yi Zhou; Xiao-Ping Ye; Feng-Yao Wu; Mei Dong; Feng Sun; Ya Fang; Rui-Jia Zhang; Chang-Run Zhang; Liu Yang; Miao-Miao Guo; Jun-Xiu Zhang; Jun Liang; Feng Cheng; Wei Liu; Bing Han; Yi Zhou; Shuang-Xia Zhao; Huai-Dong Song
Journal:  Genet Med       Date:  2021-06-30       Impact factor: 8.822

  9 in total

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