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10.1016/S0140-6736(10)60236-X http://scihub22266oqcxt.onion/10.1016/S0140-6736(10)60236-X 20382325!2898711!20382325     free     free     free Warning: imagejpeg(C:\Inetpub\vhosts\kidney.de\httpdocs\phplern\20382325.jpg): Failed to open stream: No such file or directory in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 117       Lancet 2010 ; 375 (9722): 1287-95 Nephropedia Template TP {{tp|p=20382325|t=2010. Genetic kidney diseases |pdf=|usr=}}{{20382325}} gab.com Text Genetic kidney diseases JO: Lancet http://www.kidney.de/pget.php?&tw=1&pmid=20382325 #FOAvip Knowledge of the primary cause of a disease is essential for elucidation of its mechanisms, and for adequate classification, prognosis, and treatment. Recently, the causes of many kidney diseases have been shown to be single-gene defects-eg, steroid-resistant nephrotic syndrome, which is caused by podocin mutations in about 25% of children and nearly 15% of adults with the disease. Knowledge of a disease-causing mutation in a single-gene disorder represents one of the most robust diagnostic examples of personalised medicine because the mutation conveys an almost 100% risk of developing the disease by a defined age. Whereas single-gene diseases are rare disorders, polygenic risk alleles arise in common adult-onset diseases. In this Review, I will discuss prominent renal single-gene kidney disorders, and polygenic risk alleles of common disorders. I delineate how emerging techniques of total exome capture and large-scale sequencing will assist molecular genetic diagnosis, prognosis, and specific treatment, and lead to an improved elucidation of disease mechanisms, thus enabling development of new targeted drugs. Twit Text FOAVip Genetic kidney diseases ????Lancet http://www.kidney.de/pget.php?&tw=1&pmid=20382325 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=20382325 #FOAvip English Wikipedia <ref>{{Cite pmid|20382325}}</ref> Genetic kidney diseases #MMPMID20382325 Hildebrandt F Lancet 2010[Apr]; 375 (9722): 1287-95 PMID20382325show ga Knowledge of the primary cause of a disease is essential for elucidation of its mechanisms, and for adequate classification, prognosis, and treatment. Recently, the causes of many kidney diseases have been shown to be single-gene defects-eg, steroid-resistant nephrotic syndrome, which is caused by podocin mutations in about 25% of children and nearly 15% of adults with the disease. Knowledge of a disease-causing mutation in a single-gene disorder represents one of the most robust diagnostic examples of personalised medicine because the mutation conveys an almost 100% risk of developing the disease by a defined age. Whereas single-gene diseases are rare disorders, polygenic risk alleles arise in common adult-onset diseases. In this Review, I will discuss prominent renal single-gene kidney disorders, and polygenic risk alleles of common disorders. I delineate how emerging techniques of total exome capture and large-scale sequencing will assist molecular genetic diagnosis, prognosis, and specific treatment, and lead to an improved elucidation of disease mechanisms, thus enabling development of new targeted drugs. |Humans[MESH] |Kidney Diseases/diagnosis/*genetics[MESH] |Kidney/abnormalities[MESH] |Mutation[MESH]Genetic kidney diseases (epmc).pdf DeepDyve Pubget Overpricing