Division of Endocrinology and Metabolic Diseases, IRCCS Istituto Auxologico Italiano, Milan, Italy
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Division of Endocrinology and Metabolic Diseases, IRCCS Istituto Auxologico Italiano, Milan, Italy
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Division of Endocrinology and Metabolic Diseases, IRCCS Istituto Auxologico Italiano, Milan, Italy
Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy
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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
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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
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Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy
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Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy
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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
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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
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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
UCLA School of Medicine, University of California, Los Angeles, California, USA
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UCLA School of Medicine, University of California, Los Angeles, California, USA
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hemiagenesis was observed in some mice with knockouts of transcription factors Pax8, NK2 homeobox1 (Nkx-2/TTF-1), Shh, or Tbx1 [ 5 - 7 ], all mice being hypothyroid. Although we did not examine the expression of these factors in our NOD.H2 h4 mice with
Department of Pediatric Endocrinology, Faculty of Medicine, Istinye University, Istanbul, Turkey
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Department of Medical Genetics, Faculty of Medicine, Ondokuz Mayis University, Samsun, Turkey
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Department of Medical Genetics, Faculty of Medicine, Ondokuz Mayis University, Samsun, Turkey
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, 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
Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands
Amsterdam Reproduction & Development Research Institute, Amsterdam, The Netherlands
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Department of Pediatric Endocrinology, Emma Children’s Hospital, Amsterdam UMC, location University of Amsterdam, Amsterdam, The Netherlands
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Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands
Amsterdam Reproduction & Development Research Institute, Amsterdam, The Netherlands
Endocrine Laboratory, Department of Laboratory Medicine, Amsterdam UMC, location Vrije Universiteit Amsterdam, Amsterdam, The Netherlands
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Department of Pediatric Endocrinology, Emma Children’s Hospital, Amsterdam UMC, location University of Amsterdam, Amsterdam, The Netherlands
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development (thyroid hypoplasia) of the thyroid gland. Several genes are involved in the development of the thyroid gland, and mutations in a variety of genes have been described to be associated with dysgenesis ( PAX8 , NKX2-1 , FOXE1 , NKX2-5,HHEX and
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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