“Mistakes Happen”: Somatic Mutation and 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...
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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...
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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...
متن کاملComparing somatic mutation-callers
Background: Somatic mutation-calling based on DNA from matched tumor-normal patient samples is one of the key tasks carried by many cancer genome projects. One such large-scale project is The Cancer Genome Atlas (TCGA), which is now routinely compiling catalogs of somatic mutations from hundreds of paired tumor-normal DNA exome-sequence data. Nonetheless, mutation calling is still very challeng...
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WHEN WE TALK, WHO IS LISTENING? We did an experiment to figure out what happens when we hear ourselves make a slip of the tongue – we will call it a speech error. The participants in our experiment talked through a microphone and wore headphones, which we used to play back what they said while they were talking (there was almost no delay, so they heard each word through the headphones at the sa...
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ژورنال
عنوان ژورنال: The American Journal of Human Genetics
سال: 1997
ISSN: 0002-9297
DOI: 10.1086/301618