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Tiziana de Filippis, Federica Marelli, Maria Cristina Vigone, Marianna Di Frenna, Giovanna Weber, and Luca Persani

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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L.C. Cardoso-Weide, R.C. Cardoso-Penha, M.W. Costa, A.C.F. Ferreira, D.P. Carvalho, and P.S. Santisteban

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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Giorgio Radetti, Franco Rigon, Alessandro Salvatoni, Irene Campi, Tiziana De Filippis, Valentina Cirello, Silvia Longhi, Fabiana Guizzardi, Marco Bonomi, and Luca Persani

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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Mikael Nilsson and E. Dillwyn Williams

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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Mikael Nilsson and Dillwyn Williams

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

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Sandra M. McLachlan, Holly A. Aliesky, Priscilla Garcia, Bianca Banuelos, and Basil Rapoport

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

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Cengiz Kara, Jamala Mammadova, Ümmet Abur, Cagri Gumuskaptan, Elif İzci Güllü, Ayhan Dağdemir, and Murat Aydın

, 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

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Robert Opitz, Francesco Antonica, and Sabine Costagliola

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