Literature DB >> 23698639

The molecular causes of thyroid dysgenesis: a systematic review.

I C Nettore1, V Cacace, C De Fusco, A Colao, P E Macchia.   

Abstract

BACKGROUND: Congenital hypothyroidism (CH) is a frequent disease occurring with an incidence of about 1/2500 newborns/year. In 80-85% of the cases CH is caused by alterations in thyroid morphogenesis, generally indicated by the term "thyroid dysgenesis" (TD). TD is generally a sporadic disease, but in about 5% of the cases a genetic origin has been demonstrated. In these cases, mutations in genes playing a role during thyroid morphogenesis (NKX2-1, PAX8, FOXE1, NKX2-5, TSHR) have been reported. AIM: This work reviews the main steps of thyroid morphogenesis and all the genetic alterations associated with TD and published in the literature.

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Year:  2013        PMID： 23698639     DOI： 10.3275/8973

Source DB:  PubMed          Journal:  J Endocrinol Invest        ISSN： 0391-4097            Impact factor:   4.256


  124 in total

1.  Mutations in the NKX2.5 gene and the PAX8 promoter in a girl with thyroid dysgenesis.

Authors:  Pia Hermanns; Helmut Grasberger; Samuel Refetoff; Joachim Pohlenz
Journal:  J Clin Endocrinol Metab       Date:  2011-03-30       Impact factor: 5.958

2.  A novel mutation (Q40P) in PAX8 associated with congenital hypothyroidism and thyroid hypoplasia: evidence for phenotypic variability in mother and child.

Authors:  T Congdon; L Q Nguyen; C R Nogueira; R L Habiby; G Medeiros-Neto; P Kopp
Journal:  J Clin Endocrinol Metab       Date:  2001-08       Impact factor: 5.958

3.  Congenital hypothyroidism with impaired thyroid response to thyrotropin (TSH) and absent circulating thyroglobulin: evidence for a new inactivating mutation of the TSH receptor gene.

Authors:  M Tonacchera; P Agretti; A Pinchera; V Rosellini; A Perri; P Collecchi; P Vitti; L Chiovato
Journal:  J Clin Endocrinol Metab       Date:  2000-03       Impact factor: 5.958

4.  Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency.

Authors:  Heiko Krude; Barbara Schütz; Heike Biebermann; Arpad von Moers; Dirk Schnabel; Heidi Neitzel; Holger Tönnies; Dagmar Weise; Antony Lafferty; Siegfried Schwarz; Mario DeFelice; Andreas von Deimling; Frank van Landeghem; Roberto DiLauro; Annette Grüters
Journal:  J Clin Invest       Date:  2002-02       Impact factor: 14.808

5.  Mutations in TITF-1 are associated with benign hereditary chorea.

Authors:  Guido J Breedveld; Jeroen W F van Dongen; Cesare Danesino; Andrea Guala; Alan K Percy; Leon S Dure; Peter Harper; Lazarus P Lazarou; Herma van der Linde; Marijke Joosse; Annette Grüters; Marcy E MacDonald; Bert B A de Vries; Willem Frans M Arts; Ben A Oostra; Heiko Krude; Peter Heutink
Journal:  Hum Mol Genet       Date:  2002-04-15       Impact factor: 6.150

6.  A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palate.

Authors:  Mireille Castanet; Soo-Mi Park; Aaron Smith; Michel Bost; Juliane Léger; Stanislas Lyonnet; Anna Pelet; Paul Czernichow; Krishna Chatterjee; Michel Polak
Journal:  Hum Mol Genet       Date:  2002-08-15       Impact factor: 6.150

7.  Distribution of the titf2/foxe1 gene product is consistent with an important role in the development of foregut endoderm, palate, and hair.

Authors:  Nina Dathan; Rosanna Parlato; Annamaria Rosica; Mario De Felice; Roberto Di Lauro
Journal:  Dev Dyn       Date:  2002-08       Impact factor: 3.780

8.  Novel NKX2.1 mutation associated with hypothyroidism and lethal respiratory failure in a full-term neonate.

Authors:  E S Gillett; G H Deutsch; M J Bamshad; R M McAdams; P C Mann
Journal:  J Perinatol       Date:  2013-02       Impact factor: 2.521

9.  The transcription factor TTF-1 is expressed at the onset of thyroid and lung morphogenesis and in restricted regions of the foetal brain.

Authors:  D Lazzaro; M Price; M de Felice; R Di Lauro
Journal:  Development       Date:  1991-12       Impact factor: 6.868

10.  The ambiguous role of NKX2-5 mutations in thyroid dysgenesis.

Authors:  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
Journal:  PLoS One       Date:  2012-12-28       Impact factor: 3.240
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  28 in total

1.  Two distinct E3 ligases, SCFFBXL19 and HECW1, degrade thyroid transcription factor 1 in normal thyroid epithelial and follicular thyroid carcinoma cells, respectively.

Authors:  Jia Liu; Su Dong; Heather Wang; Lian Li; Qinmao Ye; Yanhui Li; Jiaxing Miao; Sissy Jhiang; Jing Zhao; Yutong Zhao
Journal:  FASEB J       Date:  2019-06-25       Impact factor: 5.191

Review 2.  Defects of Thyroid Hormone Synthesis and Action.

Authors:  Zeina C Hannoush; Roy E Weiss
Journal:  Endocrinol Metab Clin North Am       Date:  2017-03-06       Impact factor: 4.741

Review 3.  Pediatric Hypothyroidism: Diagnosis and Treatment.

Authors:  Ari J Wassner
Journal:  Paediatr Drugs       Date:  2017-08       Impact factor: 3.022

Review 4.  Thyroid transcription factors in development, differentiation and disease.

Authors:  Lara P Fernández; Arístides López-Márquez; Pilar Santisteban
Journal:  Nat Rev Endocrinol       Date:  2014-10-28       Impact factor: 43.330

Review 5.  Differentiated thyroid carcinoma in lingual thyroid.

Authors:  Giacomo Sturniolo; Maria Antonia Violi; Bruno Galletti; Sergio Baldari; Alfredo Campennì; Francesco Vermiglio; Mariacarla Moleti
Journal:  Endocrine       Date:  2015-05-19       Impact factor: 3.633

6.  A De novo PAX8 mutation in a Chinese child with congenital thyroid dysgenesis.

Authors:  Hui Zou; Jian Chai; Shiguo Liu; Hongwei Zang; Xiaoxia Yu; Liping Tian; Huichao Li; Bingjuan Han
Journal:  Int J Clin Exp Pathol       Date:  2015-09-01

7.  Novel NKX2-1 Frameshift Mutations in Patients with Atypical Phenotypes of the Brain-Lung-Thyroid Syndrome.

Authors:  Tiziana de Filippis; Federica Marelli; Maria Cristina Vigone; Marianna Di Frenna; Giovanna Weber; Luca Persani
Journal:  Eur Thyroid J       Date:  2014-10-15

8.  A Novel Mutation (S54C) of the PAX8 Gene in a Family with Congenital Hypothyroidism and a High Proportion of Affected Individuals.

Authors:  Panudda Srichomkwun; Osnat Admoni; Samuel Refetoff; Liat de Vries
Journal:  Horm Res Paediatr       Date:  2016-05-21       Impact factor: 2.852

9.  Prediction of heparin binding of mutated short sequences of rat thyroglobulin.

Authors:  S Lisi; M Marinò
Journal:  J Endocrinol Invest       Date:  2020-09-02       Impact factor: 4.256

10.  High-resolution melting analysis (HRM) for mutational screening of Dnajc17 gene in patients affected by thyroid dysgenesis.

Authors:  I C Nettore; S Desiderio; E De Nisco; V Cacace; L Albano; N Improda; P Ungaro; M Salerno; A Colao; P E Macchia
Journal:  J Endocrinol Invest       Date:  2017-11-20       Impact factor: 4.256
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