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phosphorylation levels are inversely proportional to extracellular calcium concentration (4) . Chromogranin A processing and derived peptides The human CgA gene is located on chromosome 14q32.12, spans 12 192 bp, and is organized in eight exons and seven
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Departamento de Medicina, Faculdade de Ciencias Medicas da Santa Casa de Sao Paulo, Sao Paulo, Brasil
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Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular (LIM42), Hospital das Clinicas da Faculdade de Medicina, Universidade de Sao Paulo (USP), Sao Paulo, Brasil
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Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular (LIM42), Hospital das Clinicas da Faculdade de Medicina, Universidade de Sao Paulo (USP), Sao Paulo, Brasil
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growth impairment and are classified as having idiopathic short stature (ISS) ( 1 ). This term is widely used but this strict definition excludes children with evidence of systemic, endocrine, nutritional or chromosomal abnormalities, and those born small
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decreased IGF1 action in these individuals, as absence of IGF1 signalling through IGF1R reduces postnatal growth (34) , and IGF1 deficiency predicts longevity (35) . IGF2 is located in an imprinted gene cluster on chromosome 11p15.5 ( Fig. 1 ), containing
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receptor, GPR54 and kisspeptin/neurokinin B/dynorphin neurons (KNDy), which integrate these signals and metabolic ones to either stimulate or inhibit GnRH release ( 30 ). Most studies show that this constellation of neuroendocrine alterations is more
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bovine, human, mouse and rat, showing more than 90% similarity among these species ( 9 , 16 , 17 , 18 ). Moreover, anglerfish CPE shares approximately 80% protein sequence homology with mammalian CPE ( 19 ). Cpe gene is localized on chromosome 4q32
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( Autoimmune Regulator ) gene located on chromosome 21 (21q22.3) ( 1 , 2 , 3 , 4 ). The disease predisposes to chronic mucocutaneous candidiasis and various autoimmune disorders that impair quality of life ( 1 ). AIRE is normally expressed in thymus, where
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trimester of pregnancy in patients with GDM ( 20 ). The afamin gene is a member of the albumin gene family localized on chromosome 4 ( 21 ). Afamin has been postulated to bind vitamin E in extravascular fluids ( 22 ). Vitamin E is an important antioxidant
Department of Pediatrics, St. Anna Kinderspital, Medical University of Vienna, Vienna, Austria
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lies on chromosome 6p in close proximity to its pseudogene ( CYP21A2P ), which is 96–98% homologous. Up to 75% of CAH mutations arise from the pseudogene by meiotic non-disjunction. Deletions (del) and CYP21A2/CYP21A2P chimeric genes account for the
Department of Pediatrics, Federal University of Uberlandia (UFU), Uberlandia, Minas Gerais, Brazil
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Department of Pediatrics, Federal University of Rio Grande do Sul (UFRGS), Porto Alegre, Rio Grande do Sul, Brazil
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Poison Control Center, FCM, UNICAMP, Campinas, Sao Paulo, Brazil
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Laboratory of Human Molecular Genetics, Center for Molecular Biology and Genetics Engineering (CBMEG), UNICAMP, Campinas, Sao Paulo, Brazil
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Department of Pediatrics, FCM, UNICAMP, Campinas, Sao Paulo, Brazil
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with DSD ( 2 ). One of the most important challenge is the measurement of testosterone concentration ( 9 , 10 ), especially in the investigation of 46,XY DSD cases. DSD are congenital conditions in which chromosomal, gonadal or anatomical sex is
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with expression of chromogranin A and B, synaptophysin, and allelic loss of chromosomes 11q, 16q and 18q has been observed in GCC, similar to NEN arising from the jejunum/ileum ( 7 ). However, their proliferation index as measured by Ki67 is often much