Objective: Congenital hypothyroidism (CH) may be caused by defects in the thyroid or in one of the stages in the synthesis of thyroid hormones. Thyroid dysgenesis may be associated with mutation in the paired box transcription factor 8 (PAX8) gene. We attempted to screen PAX8 gene mutation in 50 CH patients with thyroid dysgenesis. Subjects and methods: The patients were classified in two groups as agenesis and ectopic based on biochemical and para clinical tests. By employing PCR, Single Strand Conformation Polymorphism (SSCP) and sequencing, exons 3 to 12 of PAX8 gene with their exon-intron boundaries were studied. Results: No mutation was found in these patients in any of the exons. Conclusion: Our results, once again, indicate that the PAX8 mutation rate is very low and can only explain a minority of the cases. Therefore, it is highly needed to further investigate the genes controlling development and function of thyroid. Arq Bras Endocrinol Metab. 2010;54(6):555-9 Keywords Congenital hypothyroidism; thyroid dysgenesis; PAX8; gene mutation ReSumo Objetivo: O hipotireoidismo congênito (HC) pode ser causado por defeitos na formação da tireoide ou em uma das etapas da síntese dos hormônios tireoidianos. A disgenesia da tireoide pode ser associada a mutações no fator de transcrição PAX8. Neste estudo, foram rastreadas mutações no gene PAX8 em 50 pacientes com CH com disgenesia da tireoide. Sujeitos e méto-dos: Os pacientes foram classificados em dois grupos, com agenesia ou com ectopia, segundo os testes bioquímicos e paraclínicos. Foram empregadas as técnicas de SSCP (Single Strand Conformation Polymorphism) e sequenciamento para analisar os éxons 3 a 12 do gene PAX8 e suas bordas éxon-intron. Resultados: Nenhuma mutação foi encontrada nesses pacientes, em qualquer um dos éxons. Conclusão: Nossos resultados, mais uma vez, indicam que a taxa de mutação PAX8 é muito baixa e só pode explicar a minoria dos casos. Portanto, é altamente necessário investigar outros genes que controlam o desenvolvimento e as funções tireoideanas.Arq Bras Endocrinol Metab. 2010;54(6):555-9 Descritores Hipotireoidismo congênito; disgenesia da tireoide; PAX8; mutação genética
<p>Additional information about the following materials and methods are enclosed here: Animal experiments, bioluminescence imaging, blood parameters, embryo and organ preparation, routine and immuno histology, microarray analysis, RNA in situ hybridization, image acquisition and processing, confocal microscopy, LSEC isolation, details of antibodies and qRT-PCR analysis.</p>
<p>These Tables provide primer sequences for qRT-PCR, show original data of immunofluorescence quantifications and extend the information about metastasis of WT31 melanoma cells to other organs than the liver.</p>
<p>These Figures contain an expression analysis of Clec4g in the mouse, detailed characterization of Clec4g eYFP reporter mice, detailed analysis of nEGFP expression in livers of NICDOE-HEC mice, further characterization of NICDOE-HEC mice and additional immunofluorescence stainings as well as additional experimental data of tumor metastasis experiments.</p>
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