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South Australian Adult Genetics Unit, Royal Adelaide Hospital, Adelaide, Australia
Adelaide Medical School, University of Adelaide, Adelaide, Australia
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Garvan Institute of Medical Research, Sydney, NSW, Australia
St Vincent’s Clinical School, University of New South Wales, Sydney, NSW, Australia
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St Vincent’s Clinical School, University of New South Wales, Sydney, NSW, Australia
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Academy for Medical Education, Faculty of Medicine, the University of Queensland, Brisbane, Australia
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Garvan Institute of Medical Research, Sydney, NSW, Australia
St Vincent’s Clinical School, University of New South Wales, Sydney, NSW, Australia
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tumors . Endocrine Pathology 33 6 – 26 . ( https://doi.org/10.1007/s12022-022-09703-7 ) Barry S & Korbonits M 2020 Update on the genetics of pituitary tumors . Endocrinology and Metabolism Clinics of North America 49 433 – 452 . Barry S
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molecular genetics. In particular, an extensive range of techniques for experimental genetic manipulation have been developed in mice. The genome of the C57BL/6J mouse strain was sequenced in 2002 ( Waterston et al . 2002 ), shortly after the human genome
Department of Medical Biotechnologies, University of Siena, Siena, Italy
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field of pituitary genetics in recent years, although further studies will be needed to better elucidate the molecular mechanisms linking genetic mutations and pituitary tumours. With the use of pangenomic techniques, novel genes involved in PA
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Stanford Diabetes Research Center, Stanford University, Stanford, California, USA
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causing MODY differs depending on the source of information. Online Mendelian inheritance in man (OMIM) lists 14 genetic subtypes; however, not all of these meet the American College of Medical Genetics criteria and a shorter list of 10 subtypes is more
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Departments of Pediatrics, Neonatology, Biochemistry, Obstetrics and Gynecology and Women's Health, Medicine, Department of Pediatrics
Departments of Pediatrics, Neonatology, Biochemistry, Obstetrics and Gynecology and Women's Health, Medicine, Department of Pediatrics
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Departments of Pediatrics, Neonatology, Biochemistry, Obstetrics and Gynecology and Women's Health, Medicine, Department of Pediatrics
Departments of Pediatrics, Neonatology, Biochemistry, Obstetrics and Gynecology and Women's Health, Medicine, Department of Pediatrics
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Departments of Pediatrics, Neonatology, Biochemistry, Obstetrics and Gynecology and Women's Health, Medicine, Department of Pediatrics
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addition to poor diet and genetics, evidence indicates that an altered intrauterine (IU) environment plays a key role in the development of MetS ( Vuguin et al . 2013 ), and that interactions between the IU environment and lifestyle can increase risk of
Unidade de Suprarrenal, Instituto do Câncer de São Paulo ICESP, Département de Médecine, Disciplina de Endocrinologia e Metabologia, Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil
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Unidade de Suprarrenal, Instituto do Câncer de São Paulo ICESP, Département de Médecine, Disciplina de Endocrinologia e Metabologia, Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil
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JS Myung SJ Lee W Chun S Min WK 2010 Three novel mutations of the APC gene in Korean patients with familial adenomatous polyposis . Cancer Genetics and Cytogenetics 200 34 – 39 . ( doi:10.1016/j.cancergencyto.2010.03.015 ) de
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The effects of 'normal' genetic variability of signal transduction on endocrine function may be more evident during stimulation tests than is observed in basal states, thereby contributing to a greater understanding of the possible role of signal transduction genetics in the pathogenesis of endocrine disorders. In the present study, we have studied the outcome of growth hormone (GH) stimulation testing by insulin in growth-retarded children in relation to the genotype of ACP1 (acid phosphatase locus 1; also referred to as cLMWPTP, cytosolic low molecular weight phosphotyrosine phosphatase). ACP1 is an enzyme, expressed as two distinct isoforms designated F and S, that down-regulates insulin receptor signal transduction and which shows a genetic polymorphism with strong quantitative enzymatic differences among genotypes. In this study, we examined 116 growth-retarded children of which 101 were genotyped for ACP1. We found that the basal level of GH is higher in ACP1 genotypes with low concentrations of the S isoform than in genotypes with high S isoform concentrations (P<0.02). Additionally, during GH stimulation with insulin, the genotypes with low S isoform concentrations were found to perform better (P<0.005) and to react more promptly than the genotypes with high S isoform concentrations (P<0.05). These findings suggest that high S isoform ACP1 activity slows down the effect of insulin, resulting in a retardation of its metabolic effect.
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, we outline the work in our laboratory that emphasizes the use of Drosophila molecular genetics in bridging studies of traditional physiological insect models with those emerging in vertebrates, focusing on the newly identified hugin neural circuit
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Familial correlation analyses were used to evaluate the familial aggregation of plasma androgens and androgen glucuronides (testosterone (TESTO), dihydrotestosterone (DHT), androstane-3 alpha,17 beta-diol glucuronide (3 alpha-DIOL-G), and androsterone glucuronide (ADT-G)) in 505 members of 99 white families and 296 members of 111 black families participating in the Health, Risk Factors, Exercise Training and Genetics (HERITAGE) Family Study. Each of these four measures was determined by RIA after separation of conjugated and unconjugated steroid using C18 column chromatography. All participants were sedentary prior to being including in this study. Significant spouse correlations, as well as parent-offspring and sibling correlations, were found for TESTO, DHT, 3 alpha-DIOL-G, and ADT-G in the white sample, suggesting that common familial environments and genes contribute to the familial resemblance. In the black sample, significant sibling and parent-offspring correlations were found for all four phenotypes, while the spouse correlation was marginally significant for 3 alpha-DIOL-G and not significant for TESTO, DHT, and ADT-G. The non-significance of spouse correlations in the black individuals may be due to the small number of spouse pairs. The maximal heritability estimates of TESTO, DHT, 3 alpha-DIOL-G, and ADT-G were 69%, 87%, 74%, and 56% for white individuals and 70%, 73%, 62%, and 48% for black individuals respectively. Sex differences in heritability estimates were found in the white individuals, but they were less dramatic in the black individuals. In conclusion, plasma levels of androgens and androgen glucuronides are highly heritable in both white individuals and black individuals. There are notable sex differences in the white individuals.
