Articles: phenotype.
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Dtsch. Med. Wochenschr. · Mar 2010
Review[Does phenotyping asthma help to improve differential treatment?].
Asthma is a syndrome characterized by airway inflammation, airway hyperresponsiveness (AHR) and airway obstruction. The diagnosis asthma comprises a very heterogeneous patient population. In recent years different strategies have been developed to classify the patients into different phenotypes. ⋯ Still some phenotypes depend on different pathophysiological mechanisms and can differ profoundly in their clinical course. Also for some of these phenotypes specifical treatpeuthic options are available. Therefore a good definition and classification of asthma phenotypes is important in regard of diagnosis, prognosis and therapy of these patients.
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Arch. Gen. Psychiatry · Feb 2010
Neurocognitive endophenotypes for bipolar disorder identified in multiplex multigenerational families.
Although genetic influences on bipolar disorder are well established, localization of genes that predispose to the illness has proven difficult. Given that genes predisposing to bipolar disorder may be transmitted without expression of the categorical clinical phenotype, a strategy for identifying risk genes is to identify and map quantitative intermediate phenotypes or endophenotypes. ⋯ This large-scale extended pedigree study of cognitive functioning in bipolar disorder identifies measures of processing speed, working memory, and declarative (facial) memory as candidate endophenotypes for bipolar disorder.
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Int. Arch. Allergy Immunol. · Jan 2010
Strain-specific phenotypes of airway inflammation and bronchial hyperresponsiveness induced by epicutaneous allergen sensitization in BALB/c and C57BL/6 mice.
Allergen sensitization through a disrupted skin barrier appears to play a prominent role in the development of atopic diseases, including allergic asthma. The role of the genetic background in immunological and physiological phenotypes induced by epicutaneous sensitization is undetermined. ⋯ The C57BL/6 mouse is a more appropriate model than the BALB/c mouse to study the relationship between skin barrier dysfunction and the pathogenesis of allergic asthma.
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Comparative Study
Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations in Marfan syndrome and related disorders.
TGFBR2 mutations were recognized recently among patients with a Marfan-like phenotype. The associated clinical and prognostic spectra remain unclear. ⋯ Clinical outcomes appear similar between treated patients with TGFBR2 mutations and individuals with FBN1 mutations. Prognosis depends on clinical disease expression and treatment rather than simply the presence of a TGFBR2 gene mutation.
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Inbred mice are genetically identical but nonetheless demonstrate substantial variability in complex behaviors such as activity levels in a novel environment. This variability has been associated with levels of parental care experienced early in development. Although maternal effects have been reported in biparental and uniparental strains, there have been no investigations of paternal effects in non-biparental strains in which offspring are reared exclusively by mothers. ⋯ Paternal transmission of complex traits in genetically identical mice reared only by mothers suggests a nongenetic mechanism of inheritance potentially mediated by epigenetic factors. The exclusion of multiple mediators of paternal effects on offspring suggests the possibility of germline paternal inheritance via sperm of complex phenotypes in inbred mice. Future studies are required to examine these interesting possibilities.