نتایج جستجو برای: monogenic diseases
تعداد نتایج: 852089 فیلتر نتایج به سال:
The network-based approaches that were employed in order to depict the relationships between human genetic diseases and their associated genes are described. Towards this direction, monopartite disease-disease and gene-gene networks were constructed from bipartite gene-disease association networks. The latter were created by collecting and integrating data from three diverse resources, each one...
The past three decades have seen a revolution in molecular biology and genetics that have changed the way we define disease, diagnose it, understand pathogenesis, initiate new treatments and assess individual responsiveness to intervention. The 'new genetics' has made its biggest impact on monogenic or 'rare' diseases, although its impact is increasingly being felt in the polymorphic so-called ...
Background: The group of the most common monogenic auto-inflammatory diseases (mAIDs) includes FMF, TRAPS, HIDS, CAPS. Descriptions these are widely presented in literature, but they not well covered among adults. MAIDs adult rheumatological practice found: 1) pts with onset and diagnostics disease their childhood; 2) juvenile onset, adulthood; 3) adulthood. Adult specialists, contrast to pedia...
Genomic technologies in archaeology have been used to study migration patterns, origin of and genetic similarity between ancient populations. Researchers are, however, just beginning employ these evaluate the genomic health communities. In this we screen publicly available whole-genome sequencing data pre-contact Caribbean individuals for presence pathogenic mutations causing monogenic diseases...
Derangements of phenylalanine and tyrosine metabolism are an important factor in the etiology and pathogenesis of psychoneurological disorders. These disorders are particularly pronounced with monogenic hereditary diseases. In this work, we investigated similar disturbances in widespread and socially significant diseases – viral hepatitis and chronic alcoholism – which are accompanied by liver ...
A stereo similarity function based on local multi-model monogenic image feature descriptors LMFD is proposed to match interest points and estimate disparity map for stereo images. Local multi-model monogenic image features include local orientation and instantaneous phase of the gray monogenic signal, local color phase of the color monogenic signal, and local mean colors in the multiscale color...
Autoimmune diseases and primary immunodeficiencies share a common pathogenesis characterized by dysregulation of immunity. Although most autoimmune diseases show a polygenic inheritance pattern, it has been shown that monogenic defects of various immune system components could lead to autoimmunity as well. These findings have opened a new pathway for understanding the development of autoimmune ...
Methods A web-based registry collecting baseline and crosssectional clinical information on Autoinflammatory diseases is available in the member area of the PRINTO web-site (www.printo.it). The registry is open to all pediatric and adult Centers with a specific interest in Autoinflammatory diseases. The following monogenic autoinflammatory diseases were considered: Familial Mediterranean Fever ...
Cystic fibrosis (CF) is one of the most deadly diseases lungs that involves symptoms such as breathing difficulties, coughing and lung infection. Despite important therapeutic advances, definitive treatment for CF remains elusive. a good candidate gene therapy because it relatively common, lethal monogenic does not have adequate options. In this review article, we reviewed potential option CF. ...
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