genetics of neoplasia: inherited monogenic defects associated with cancers.
نویسندگان
چکیده
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منابع مشابه
Contributions of genetics to our understanding of inherited monogenic retinal diseases and age-related macular degeneration.
Molecular genetics has contributed greatly to our understanding of inherited ocular disease. Prior to the development of recombinant DNA technology, basic and clinical scientists were limited to a description and classification of phenotypes based on morphology, biochemistry, and physiology. Progress was severely hampered by the dearth of genetic information. The pace of progress accelerated in...
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During the past two decades, numerous disease-causing genes for different cardiomyopathies have been identified. These discoveries have led to better understanding of disease pathogenesis and initial steps in the application of mutation analysis in the evaluation of affected individuals and their family members. As knowledge of the genetic abnormalities, and insight into cellular and organ biol...
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The identification of biologically significant variants in cancer genomes is critical to therapeutic discovery, but it is limited by the statistical power needed to discern driver from passenger. Independent biological data can be used to filter cancer exomes and increase statistical power. Large genetic databases for inherited diseases are uniquely suited to this task because they contain spec...
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Around 10-15% of patients diagnosed with frontotemporal dementia (FTD) have a positive family history for FTD with an autosomal dominant pattern of inheritance. Since the identification of mutations in MAPT (microtubule-associated protein tau gene) in 1998, over 10 other genes have been associated with FTD spectrum disorders, discussed in this review. Along with MAPT, mutations in GRN (progranu...
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Major advances have recently been made in our understanding of the genetic basis of monogenic inherited epilepsies. Progress has been particularly spectacular with respect to idiopathic epilepsies, with the discovery that mutations in ion channel subunits are implicated. However, important advances have also been made in many inherited symptomatic epilepsies, for which direct molecular diagnosi...
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The current review describes inherited platelet disorders, illustrates their clinical phenotype and molecular genetic defects. Platelets are the key molecules mediating haemostasis via adhesion, activation and clot formation at the site of injury. The inherited platelet disorders can be classified according to their platelet defects: receptor/cytoskeleton defects, secretion disorder, and signal...
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عنوان ژورنال:
acta medica iranicaجلد ۵۲، شماره ۱، صفحات ۹۱-۹۲
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