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Introduction In humans, heterozygous loss-of-function mutations in NKX2-1 gene (OMIM #600635) have been reported to cause a complex phenotype called brain-lung-thyroid (BLT) syndrome (OMIM #610978) [ 1 , 2 , 3 , 4 , 5 , 6 , 7 ]. The BLT

technique. The gene panel was designed using Illumina Design Studio and included 20 candidate genes involved in TH actions and CH: THRA, THRB, DIO1, DIO2, SLC16A2, SECISBP2, DUOX2, DUOXA2, FOXE1, GLIS3, IYD, JAG1, NKX2-1, NKX2-5, PAX8, SLC26A4, SLC5A5, TG

part be mediated through interaction with Nkx2-1 [ 9 ], a thyroid transcription factor. This group of genes merits further study in both C and follicular cell-derived thyroid cancers. We conclude by hoping that our paper may stimulate further

thought to originate from the parathyroid due to technical difficulties in separating the two in tissue preparations [ 16 ]. Of interest, calcitonin expression in C cells is regulated by Nkx2-1 (identical to thyroid transcription factor-1 or TTF-1) [ 17

from examination of mouse embryos [ 3 , 7 ]. It was particularly the generation and phenotypic analysis of murine knock-out models for key factors controlling thyroid development (e.g. NKX2.1, PAX8, FOXE1, HEX) that laid the foundation for current

, ectopy, orthotopic hypoplasia and hemiagenesis. TD can result from mutations that are inherited in an autosomal dominant ( PAX8, NKX2-1, NKX2-2, JAG1, NTN1 ), recessive ( FOXE1, GLIS3 ) or both ( CDCA8, TSHR ) manner ( 4 ). Resistance to thyrotropin (TSH

transcription factor 1/Nkx2-1) and PAX8 (paired box gene 8) on DuOx2 promoter activity regulation, as they are simultaneously expressed only in the thyroid gland and are required for proper thyroid development [ 14 , 15 , 16 , 17 ]. We also investigated the role