Somatic Mutation, Genomic Variation, and Neurological Disease
نویسندگان
چکیده
منابع مشابه
Coherent Somatic Mutation in Autoimmune Disease
BACKGROUND Many aspects of autoimmune disease are not well understood, including the specificities of autoimmune targets, and patterns of co-morbidity and cross-heritability across diseases. Prior work has provided evidence that somatic mutation caused by gene conversion and deletion at segmentally duplicated loci is relevant to several diseases. Simple tandem repeat (STR) sequence is highly mu...
متن کاملGenomic and Proteomic Biomarker Discovery in Neurological Disease
Technology for high-throughout scanning of the human genome and its encoded proteins have rapidly developed to allow systematic analyses of human disease. Application of these technologies is becoming an increasingly effective approach for identifying the biological basis of genetically complex neurological diseases. This review will highlight significant findings resulting from the use of a mu...
متن کاملSomatic Mutation and Autoimmunity
Upon reading Christopher Goodnow’s recent Review article in Cell, which emphasized the overlapping role of somatic mutation in autoimmunity and cancer (Goodnow, 2007), I was reminded of a graduate lecture course given by Professor Roderick MacLeod in 1995 at the University of Illinois. While introducing F.M. Burnet’s clonal selection theory to our small class, Professor MacLeod mentioned Burnet...
متن کاملThe role of glia in neurological disease
Glial cells form a network in the central nervous system to support neurons and interact with them. The glia consist essentially of astrocytes that help with the nutrition of neurons and react in some cases of injury, oligodendrocytes that produce myelin, and microglia that are derived from the haemopoietic system and are concerned with the immunological defense of the nervous system. Experimen...
متن کاملAutoimmune lymphoproliferative syndrome-like disease with somatic KRAS mutation.
Autoimmune lymphoproliferative syndrome (ALPS) is classically defined as a disease with defective FAS-mediated apoptosis (type I-III). Germline NRAS mutation was recently identified in type IV ALPS. We report 2 cases with ALPS-like disease with somatic KRAS mutation. Both cases were characterized by prominent autoimmune cytopenia and lymphoadenopathy/splenomegaly. These patients did not satisfy...
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ژورنال
عنوان ژورنال: Science
سال: 2013
ISSN: 0036-8075,1095-9203
DOI: 10.1126/science.1237758