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regulatory region which contains a CpG island (CGI) spanning the promoter, exon 1 and part of intron 1 ( Fig. 5A ). The PTPRM gene has been shown to be methylated at the exon 1/intron 1 boundary in colon cancer ( 11 ). Therefore, by performing quantitative
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to the hGH-N promoter, where association of BMAL1 with this region was reduced as a result of HFD in 171hGH/CS TG mice ( 13 ). The circadian clock genes are also known to be involved in the homeostatic sleep process. The sleep homeostat keeps
Priority Research Centre for Cancer, School of Biomedical Sciences and Pharmacy, Faculty of Health and Medicine, University of Newcastle, Newcastle, New South Wales, Australia
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Priority Research Centre for Cancer, School of Biomedical Sciences and Pharmacy, Faculty of Health and Medicine, University of Newcastle, Newcastle, New South Wales, Australia
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Clinical Research Design, IT and Statistical Support Unit, Hunter Medical Research Institute, Newcastle, New South Wales, Australia
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Clinical Research Design, IT and Statistical Support Unit, Hunter Medical Research Institute, Newcastle, New South Wales, Australia
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Priority Research Centre for Cancer, School of Biomedical Sciences and Pharmacy, Faculty of Health and Medicine, University of Newcastle, Newcastle, New South Wales, Australia
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Priority Research Centre for Cancer, School of Biomedical Sciences and Pharmacy, Faculty of Health and Medicine, University of Newcastle, Newcastle, New South Wales, Australia
Molecular Medicine, Pathology North, John Hunter Hospital, Newcastle, New South Wales, Australia
Discipline of Medical Genetics, School of Biomedical Sciences and Pharmacy, Faculty of Health and Medicine, University of Newcastle, University Drive, Newcastle, New South Wales, Australia
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the promoter region of the insulin-like growth factor-I (IGF-I) gene . European Journal of Epidemiology 2003 18 191 – 193 . ( doi:10.1023/A:1023309321705 ) 31 Rosen CJ Kurland ES Vereault D Adler RA Rackoff PJ Craig WY
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International Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
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the observed variation in pubertal onset ( 8 , 9 ). We have recently described single genetic variants in the promoters of FSHR and FSHB , mediating the largest known effect on age at pubertal onset in girls, explaining nearly a year of pubertal
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, 15, 16), SMAD4 (exons 6, 9, 10, 11, 12), TP53 (exons 4, 5, 6, 7, 8, 9), TERT (promoter region. The sequences obtained were analyzed using VariantStudio Software (Illumina Inc, San Diego, CA, USA) and the Integrative Genomics Viewer 2.3 (IGV
Grupo de Citogenética, Filogenia y Evolución de Poblaciones, Facultad de Ciencias y Facultad de Ciencias de la Salud, Universidad del Tolima, Ibagué, Tolima, Colombia
Facultad de Ciencias para la Salud, Universidad de Caldas, Manizales, Caldas, Colombia
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Hospital Pablo Tobón Uribe, Medellín, Antioquia, Colombia
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Dinamica IPS, Medellín, Antioquia, Colombia
University of California Davis Comprehensive Cancer Center, Sacramento, California, USA
Fundación de Genética y Genómica, Medellín, Antioquia, Colombia
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eosin (H&E)- stained slides. We isolated the DNA from the demarcated regions using Qiagen DNeasy Blood & Tissue Kit and protocol. BRAF exon 15 and the TERT promoter region were amplified using previously reported primers ( 21 , 28 ) and Sanger
Structural and Functional Biology Program, Universidade Federal de São Paulo, São Paulo, Brazil
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Structural and Functional Biology Program, Universidade Federal de São Paulo, São Paulo, Brazil
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Post-graduate Program in Interactive Processes of Organs and Systems, Health & Science Institute, Federal University of Bahia, Salvador, Brazil
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Department of Anatomic Pathology & Legal Medicine, Bahia Federal Medical School, Federal University of Bahia, Salvador, Brazil
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Division of Genetics, Department of Morphology and Genetics, Genetic Basis of Thyroid Tumors Laboratory, Paulista School of Medicine, Universidade Federal de São Paulo, São Paulo, Brazil
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affected by a growing number of DNA alterations in tumor-suppressor genes, especially via gene promoter methylation ( 4 ) causing a silencing of tumor-suppressor genes that are linked to apoptosis or DNA repair ( 5 , 6 ). A better understanding of such
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Center for Genomic Research, University of Modena and Reggio Emilia, Modena, Italy
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Center for Genomic Research, University of Modena and Reggio Emilia, Modena, Italy
Department of Medical Specialties, Azienda Ospedaliero-Universitaria di Modena, Modena, Italy
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, neuroinflammation and gut microbiota composition . Psychoneuroendocrinology 2019 99 . ( https://doi.org/10.1016/j.psyneuen.2018.09.021 ) 29 Araki R Nishida S Hiraki Y Matsumoto K Yabe T . DNA methylation of the GC box in the promoter region
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the CYP19A1 gene transcript ( 9 ). This finding suggests that promoter I.4, 5′-upstream region of exon I.4, is activated in human skin fibroblasts. Figure 1 (A) Scheme of the multiple exons I in the human CYP19A1 gene- and tissue
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blood glucose levels ( 4 ). It is known that the mechanism by which gluco-toxicity inhibits insulin synthesis involves the loss of expression of pancreas duodenum homeobox-1 (Pdx-1), which acts as a critical regulator of insulin promoter activity ( 5