Search Results for phenotype

... and an activation of local inflammation, have been regarded as the mechanisms of UA-induced renal disease, which contribute to glomerular hypertrophy and interstitial fibrosis via endothelial dysfunction. However, there have been rare studies on the direct effect of UA on phenotype transition of renal cells...

... colour. Sport scientists should keep in mind several things when interpreting the literature, and when designing their own genetic studies. First of all, most genetic association methods are more powerful for detecting disease phenotypes (such as susceptibility to injury) than they are for detecting...

... experts over the concept of frailty itself. Past definitions of frailty have tended to focus exclusively on a physical phenotype, but more recent definitions are broader and combine physical indicators with cognitive, functional, and psychosocial indicators of frailty [ 7 ]. For example, impairments...

... Abstract In both demographic and clinical studies, frailty is understood as a multidimensional state of increased vulnerability compared with the status of others of the same age. Of the many theoretical definitions of frailty, two are commonly employed: the physical frailty/phenotypic approach...

... Abstract The previous chapter focused on the conceptualization and operationalization of the deficit accumulation and phenotypic approaches to the description of frailty. The purpose of this chapter is to summarize some studies that compared these most commonly used frailty definitions. We also...

... mechanisms and the presented nosological status, we suggest a new Neuroconnective phenotype, which around a common core Anxiety-Collagen hyperlaxity, includes five dimensions: behavioral, psychopathology, somatic symptoms, somatosensory symptoms, and somatic illnesses. It is envisaged that new descriptions...

... Obesity Metabolic syndrome South Asians Nutrition transition Phenotype Population-based prevention Key Messages • Rapid economic, demographic, and nutritional changes occurring in India and other south Asian countries contribute towards a sedentary lifestyle and imbalanced dietary...

... associated with age-related diseases, including, ironically, late-life cancer. Thus, anti-cancer therapies that can induce senescence might also drive aging phenotypes and age-related pathology. The deleterious effects of senescent cells most likely derive from their senescence-associated secretory phenotype...

... action [ 6 ]. In addition, when obesity is present, IR is exacerbated further contributing to the worsening of the clinical phenotype [ 6 ]. It is therefore possible that hyperinsulinemia and IR may be implicated as an underlying pathogenic mechanism in several disorders associated with a PCOS-like...

... Abstract Epigenetics is being suggested as a possible interface between the genetic and environmental factors that together give rise to phenotype. In mice there exists a group of genes, known as metastable epialleles, which are sensitive to environmental influences, such as diet, and undergo...

... Abstract Noonan syndrome is an autosomal dominant condition notable both for its common occurrence and phenotypic variability. It is characterized by short stature, congenital cardiac defects, unusual chest shape, broad or webbed neck, cryptorchidism, typical facial appearance and developmental...

... Abstract Noonan syndrome (NS) is an autosomal dominant disorder mainly characterized by short stature, distinct facial anomalies and congenital heart defects. The cumulative record of genotype-phenotype correlations clearly indicates that PTPN11 gene mutations, responsible for almost half...

... and cardiac arrhythmia, predominantly atrial. Skin changes are striking, particularly increased skin over the palms and soles and the development of papilloma at moist body surfaces. The finding of excess palmar skin is part of a striking hand phenotype, comprising in addition, hyperextensibility of the small...

... and the ability to manipulate the genome to directly test hypotheses regarding causal mutations and disease phenotypes. The emerging availability of genome sequences of other mammals (bovine, canine, equine, feline, and porcine) now permits utilization of the mammal in which the phenotype best approximates...

... disease is an example of complex disease in which the phenotype arisesfrom a combination of environmental and heritable factors. Evidence suggests that the contributionmade by the environment may be mediated via modifications of the epigenome. Inthe uremic milieu, several features such as inflammation...

... Ras protein, although several additional roles for the protein arenow recognised.Establishing a close correlation between specific disease gene mutations and an associatedclinical phenotype in affected patients can be a challenging task in molecular clinicalgenetics. For NF1, only two such genotype...