Literature DB >> 11598612

Thyroid dysgenesis caused by PAX8 mutation: the hypermutability with CpG dinucleotides at codon 31.

M Komatsu1, T Takahashi, I Takahashi, M Nakamura, I Takahashi, G Takada.   

Abstract

We identified a novel mutation (CGC to T GC) at codon 31 of the Paired box 8 gene, an important transcription factor in the development of the thyroid gland. Mutations at this codon have been independently reported in 2 cases (CGC to CA C). These transitions are considered typical CpG-consequence mutations and account for hypermutability at this position.

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Year:  2001        PMID： 11598612     DOI： 10.1067/mpd.2001.117071

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


  10 in total

Review 1.  The molecular causes of thyroid dysgenesis: a systematic review.

Authors:  I C Nettore; V Cacace; C De Fusco; A Colao; P E Macchia
Journal:  J Endocrinol Invest       Date:  2013-05-22       Impact factor: 4.256

Review 2.  Resistance to thyrotropin.

Authors:  Helmut Grasberger; Samuel Refetoff
Journal:  Best Pract Res Clin Endocrinol Metab       Date:  2017-03-30       Impact factor: 4.690

3.  Congenital Hypothyroidism Caused by a PAX8 Gene Mutation Manifested as Sodium/Iodide Symporter Gene Defect.

Authors:  Wakako Jo; Katsura Ishizu; Kenji Fujieda; Toshihiro Tajima
Journal:  J Thyroid Res       Date:  2009-12-09

4.  Two cases of thyroid dysgenesis caused by different novel PAX8 mutations in the DNA-binding region: in vitro studies reveal different pathogenic mechanisms.

Authors:  Pia Hermanns; Helmut Grasberger; Ronald Cohen; Clemens Freiberg; Helmuth-Günther Dörr; Samuel Refetoff; Joachim Pohlenz
Journal:  Thyroid       Date:  2013-01-11       Impact factor: 6.568

5.  Identification of a locus for nongoitrous congenital hypothyroidism on chromosome 15q25.3-26.1.

Authors:  Helmut Grasberger; Martine Vaxillaire; Silvana Pannain; John C Beck; Aviva Mimouni-Bloch; Vincent Vatin; Gilbert Vassart; Philippe Froguel; Samuel Refetoff
Journal:  Hum Genet       Date:  2005-09-28       Impact factor: 4.132

Review 6.  Congenital hypothyroidism: a review of current diagnostic and treatment practices in relation to neuropsychologic outcome.

Authors:  Joanne Rovet; Denis Daneman
Journal:  Paediatr Drugs       Date:  2003       Impact factor: 3.930

7.  Identification of a novel pax8 gene sequence variant in four members of the same family: from congenital hypothyroidism with thyroid hypoplasia to mild subclinical hypothyroidism.

Authors:  Monica Vincenzi; Marta Camilot; Eleonora Ferrarini; Francesca Teofoli; Giacomo Venturi; Rossella Gaudino; Paolo Cavarzere; Giuseppina De Marco; Patrizia Agretti; Antonio Dimida; Massimo Tonacchera; Attilio Boner; Franco Antoniazzi
Journal:  BMC Endocr Disord       Date:  2014-08-22       Impact factor: 2.763

8.  Identification and characterization of novel PAX8 mutations in Congenital Hypothyroidism(CH) in a Chinese population.

Authors:  Shiguo Liu; Xueqin Wang; Hui Zou; Yinlin Ge; Fang Wang; Yangang Wang; Shengli Yan; Hongfei Xia; Mingzhao Xing
Journal:  Oncotarget       Date:  2017-01-31

9.  DNA methylation at a nutritionally sensitive region of the PAX8 gene is associated with thyroid volume and function in Gambian children.

Authors:  Toby Candler; Noah J Kessler; Chathura J Gunasekara; Kate A Ward; Philip James; Eleonora Laritsky; Maria S Baker; Roger Dyer; Rajavel Elango; David Jeffries; Robert A Waterland; Sophie E Moore; Marian Ludgate; Andrew M Prentice; Matt J Silver
Journal:  Sci Adv       Date:  2021-11-05       Impact factor: 14.136

10.  Detection of Novel Gene Variants Associated with Congenital Hypothyroidism in a Finnish Patient Cohort.

Authors:  Christoffer Löf; Konrad Patyra; Teemu Kuulasmaa; Jagadish Vangipurapu; Henriette Undeutsch; Holger Jaeschke; Tuulia Pajunen; Andreina Kero; Heiko Krude; Heike Biebermann; Gunnar Kleinau; Peter Kühnen; Krista Rantakari; Päivi Miettinen; Turkka Kirjavainen; Juha-Pekka Pursiheimo; Taina Mustila; Jarmo Jääskeläinen; Marja Ojaniemi; Jorma Toppari; Jaakko Ignatius; Markku Laakso; Jukka Kero
Journal:  Thyroid       Date:  2016-08-02       Impact factor: 6.568
  10 in total

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