نتایج جستجو برای: monogenic diseases
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Mutations in ion channel genes can cause a diverse group of phenotypes and play important roles in the filed of monogenic neurological diseases [1]. With the application of Next-generation sequencing, more and more genetic and clinical heterogeneity in monogenic neurological diseases was reported, which improved our understanding of the pathophysiologic mechanisms in different monogenic neurolo...
Network Properties of Complex Human Disease Genes Identified through Genome-Wide Association Studies
BACKGROUND Previous studies of network properties of human disease genes have mainly focused on monogenic diseases or cancers and have suffered from discovery bias. Here we investigated the network properties of complex disease genes identified by genome-wide association studies (GWAs), thereby eliminating discovery bias. PRINCIPAL FINDINGS We derived a network of complex diseases (n = 54) an...
Autoinflammatory diseases are a group of disorders due to acquired or hereditary disfunction of innate immune system and characterized by systemic or localized manifestations. The prototype is Familial Mediterranean Fever, a monogenic hereditary disorder, whose causing gene (MeFV gene) was identified in 1997 and opened the way to a new fascinanting chapter of rheumatology. A growing body of mon...
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