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10.1016/j.gde.2013.02.007 http://scihub22266oqcxt.onion/10.1016/j.gde.2013.02.007 C3703464!3703464 !23523050     free     free     free Warning: imagejpeg(C:\Inetpub\vhosts\kidney.de\httpdocs\phplern\23523050 .jpg): Failed to open stream: No such file or directory in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 117       Curr+Opin+Genet+Dev 2013 ; 23 (3 ): 264-70 Nephropedia Template TP {{tp|p=23523050 |t=2013. Functional impact of the human mobilome |pdf=|usr=}}{{23523050 }} gab.com Text Functional impact of the human mobilome JO: Curr Opin Genet Dev http://www.kidney.de/pget.php?&tw=1&pmid=23523050 #FOAvip The human genome is replete with interspersed repetitive sequences derived from the propagation of mobile DNA elements. Three families of human retrotransposons remain active today: LINE1, Alu, and SVA elements. Since 1988, de novo insertions at previously recognized disease loci have been shown to generate highly penetrant alleles in Mendelian disorders. Only recently has the extent of germline-transmitted retrotransposon insertion polymorphism (RIP) in human populations been fully realized. Also exciting are recent studies of somatic retrotransposition in human tissues and reports of tumor-specific insertions, suggesting roles in tissue heterogeneity and tumorigenesis. Here we discuss mobile elements in human disease with an emphasis on exciting developments from the last several years. Twit Text FOAVip Functional impact of the human mobilome ????Curr Opin Genet Dev http://www.kidney.de/pget.php?&tw=1&pmid=23523050 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=23523050 #FOAvip English Wikipedia <ref>{{Cite pmid|23523050 }}</ref> Functional impact of the human mobilome #MMPMID23523050 Babatz TD ; Burns KH Curr Opin Genet Dev 2013[Jun]; 23 (3 ): 264-70 PMID23523050 show ga The human genome is replete with interspersed repetitive sequences derived from the propagation of mobile DNA elements. Three families of human retrotransposons remain active today: LINE1, Alu, and SVA elements. Since 1988, de novo insertions at previously recognized disease loci have been shown to generate highly penetrant alleles in Mendelian disorders. Only recently has the extent of germline-transmitted retrotransposon insertion polymorphism (RIP) in human populations been fully realized. Also exciting are recent studies of somatic retrotransposition in human tissues and reports of tumor-specific insertions, suggesting roles in tissue heterogeneity and tumorigenesis. Here we discuss mobile elements in human disease with an emphasis on exciting developments from the last several years. |Alleles [MESH] |Alu Elements/*genetics [MESH] |Carcinogenesis/genetics [MESH] |Genetic Diseases, Inborn/etiology/*pathology [MESH] |Genome, Human [MESH] |Humans [MESH] |Long Interspersed Nucleotide Elements/*genetics [MESH] |Neoplasms/etiology/genetics/pathology [MESH]Functional impact of the human mobilome (epmc).pdf DeepDyve Pubget Overpricing