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Sökning: swepub > Övrigt vetenskapligt/konstnärligt > Forskningsöversikt

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  • Dean, B, et al. (författare)
  • P450 Oxidoreductase Deficiency: A Systematic Review and Meta-analysis of Genotypes, Phenotypes, and Their Relationships
  • 2020
  • Ingår i: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM. - : The Endocrine Society. - 0021-972X .- 1945-7197. ; 105:3, s. E43-E54
  • Forskningsöversikt (övrigt vetenskapligt/konstnärligt)abstract
    • ContextP450 oxidoreductase deficiency (PORD) is a rare genetic disorder that is associated with significant morbidity. However there has been limited analysis of reported PORD cases.ObjectiveTo determine, based on the cohort of reported PORD cases, genotype-phenotype relationships for skeletal malformations, maternal virilisation in pregnancy, adrenal insufficiency, and disorders of sexual development (DSD).Data SourcesPubMed and Web of Science from January 2004 to February 2018.Study SelectionPublished case reports/series of patients with PORD. Eligible patients were unique, had biallelic mutations, and their clinical features were reported.Data ExtractionPatient data were manually extracted from the text of case reports/series. A malformation score, representing the severity of skeletal malformations, was calculated for each patient.Data SynthesisOf the 211 patients published in the literature, 90 were eligible for inclusion. More than 60 unique mutations were identified in this cohort. Four groups of mutations were identified, through regression modeling, as having significantly different skeletal malformation scores. Maternal virilization in pregnancy, reported for 21% of patients, was most common for R457H mutations. Adrenal insufficiency occurred for the majority of patients (78%) and was typically mild, with homozygous R457H mutations being the least deficient. DSD affected most patients (72%), but were less common for males (46XY) with homozygous R457H mutations.ConclusionsPORD is a complex disorder with many possible mutations affecting a large number of enzymes. By analyzing the cohort of reported PORD cases, this study identified clear relationships between genotype and several important phenotypic features.
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  • Bergman, Jan, et al. (författare)
  • Indolocarbazoles
  • 2001
  • Ingår i: ADVANCES IN HETEROCYCLIC CHEMISTRY, VOL 80. - 0065-2725 .- 1557-8429. ; 80, s. 1-71
  • Forskningsöversikt (övrigt vetenskapligt/konstnärligt)
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  • Frisk, Henrik, 1969- (författare)
  • On the intuition of a machine
  • 2020
  • Ingår i: Research Catalogue. - Oslo : Research Catalogue.
  • Forskningsöversikt (övrigt vetenskapligt/konstnärligt)abstract
    •  One of the great challenges of any research project that spans over several years is to keep the project contained and avoid it from going off in directions less useful for answering the questions posed. Yet, it has to be open enough to allow for unexpected findings in the fringes of the practice. This is especially true of artistic research projects, as they have a tendency to be interdisciplinary and sometimes broad-brushed, which in fact may be seen as one of the qualities of the field. Furthermore, the artistic practice and its contexts, which may sometimes itself be difficult to delimit, are at least at the outset the original bounds of an artistic research project. The difficulties, however, remains to know when a trajectory should be given up or stayed with: When is this particular issue exhausted in the context of the project? It is through method development that a field of research practice can evolve, and we, as artists and researchers, can learn to become better at making those decisions.
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  • Jacobs, MN, et al. (författare)
  • Marked for Life: Epigenetic Effects of Endocrine Disrupting Chemicals
  • 2017
  • Ingår i: ANNUAL REVIEW OF ENVIRONMENT AND RESOURCES, VOL 42. - : Annual Reviews. - 1543-5938 .- 1545-2050. - 9780824323424 ; 42, s. 105-160
  • Forskningsöversikt (övrigt vetenskapligt/konstnärligt)abstract
    • The presence of human-made chemical contaminants in the environment has increased rapidly during the past 70 years. Harmful effects of such contaminants were first reported in the late 1950s in wildlife and later in humans. These effects are predominantly induced by endocrine disrupting chemicals (EDCs), chemicals that mimic the actions of endogenous hormones and leave marks at several levels of organization in organisms, from physiological outcomes (phenotypes) to molecular alterations, including epigenetic modifications. Epigenetic mechanisms play pivotal roles in the developmental processes that contribute to determining adult phenotypes, through so-called epigenetic programming. While there is increasing evidence that EDC exposure during sensitive periods of development can perturb epigenetic programming, it is unclear whether these changes are truly predictive of adverse outcomes. Understanding the mechanistic links between EDC-induced epigenetic changes and phenotypic endpoints will be critical for providing improved regulatory tools to better protect the environment and human health from exposure to EDCs.
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