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10.1093/hmg/ddv376 http://scihub22266oqcxt.onion/10.1093/hmg/ddv376 C4634375!4634375 !26362251     free     free     free Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Warning: imagejpeg(C:\Inetpub\vhosts\kidney.de\httpdocs\phplern\26362251 .jpg): Failed to open stream: No such file or directory in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 117       Hum+Mol+Genet 2015 ; 24 (23 ): 6711-20 Nephropedia Template TP {{tp|p=26362251 |t=2015. A systematic screening to identify de novo mutations causing sporadic early-onset Parkinson s disease |pdf=|usr=}}{{26362251 }} gab.com Text A systematic screening to identify de novo mutations causing sporadic early-onset Parkinson s disease JO: Hum Mol Genet http://www.kidney.de/pget.php?&tw=1&pmid=26362251 #FOAvip Despite the many advances in our understanding of the genetic basis of Mendelian forms of Parkinson's disease (PD), a large number of early-onset cases still remain to be explained. Many of these cases, present with a form of disease that is identical to that underlined by genetic causes, but do not have mutations in any of the currently known disease-causing genes. Here, we hypothesized that de novo mutations may account for a proportion of these early-onset, sporadic cases. We performed exome sequencing in full parent-child trios where the proband presents with typical PD to unequivocally identify de novo mutations. This approach allows us to test all genes in the genome in an unbiased manner. We have identified and confirmed 20 coding de novo mutations in 21 trios. We have used publicly available population genetic data to compare variant frequencies and our independent in-house dataset of exome sequencing in PD (with over 1200 cases) to identify additional variants in the same genes. Of the genes identified to carry de novo mutations, PTEN, VAPB and ASNA1 are supported by various sources of data to be involved in PD. We show that these genes are reported to be within a protein-protein interaction network with PD genes and that they contain additional rare, case-specific, mutations in our independent cohort of PD cases. Our results support the involvement of these three genes in PD and suggest that testing for de novo mutations in sporadic disease may aid in the identification of novel disease-causing genes. Twit Text FOAVip A systematic screening to identify de novo mutations causing sporadic early-onset Parkinson s disease ????Hum Mol Genet http://www.kidney.de/pget.php?&tw=1&pmid=26362251 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=26362251 #FOAvip English Wikipedia <ref>{{Cite pmid|26362251 }}</ref> A systematic screening to identify de novo mutations causing sporadic early-onset Parkinson s disease #MMPMID26362251 Kun-Rodrigues C ; Ganos C ; Guerreiro R ; Schneider SA ; Schulte C ; Lesage S ; Darwent L ; Holmans P ; Singleton A ; Bhatia K ; Bras J Hum Mol Genet 2015[Dec]; 24 (23 ): 6711-20 PMID26362251 show ga Despite the many advances in our understanding of the genetic basis of Mendelian forms of Parkinson's disease (PD), a large number of early-onset cases still remain to be explained. Many of these cases, present with a form of disease that is identical to that underlined by genetic causes, but do not have mutations in any of the currently known disease-causing genes. Here, we hypothesized that de novo mutations may account for a proportion of these early-onset, sporadic cases. We performed exome sequencing in full parent-child trios where the proband presents with typical PD to unequivocally identify de novo mutations. This approach allows us to test all genes in the genome in an unbiased manner. We have identified and confirmed 20 coding de novo mutations in 21 trios. We have used publicly available population genetic data to compare variant frequencies and our independent in-house dataset of exome sequencing in PD (with over 1200 cases) to identify additional variants in the same genes. Of the genes identified to carry de novo mutations, PTEN, VAPB and ASNA1 are supported by various sources of data to be involved in PD. We show that these genes are reported to be within a protein-protein interaction network with PD genes and that they contain additional rare, case-specific, mutations in our independent cohort of PD cases. Our results support the involvement of these three genes in PD and suggest that testing for de novo mutations in sporadic disease may aid in the identification of novel disease-causing genes. |*DNA Mutational Analysis [MESH] |*Genetic Predisposition to Disease [MESH] |*Mutation [MESH] |*Protein Interaction Maps [MESH] |Adult [MESH] |Arsenite Transporting ATPases/genetics [MESH] |Exome [MESH] |Humans [MESH] |Male [MESH] |Middle Aged [MESH] |PTEN Phosphohydrolase/genetics [MESH] |Parkinson Disease/*genetics/metabolism [MESH] |Pedigree [MESH] |Vesicular Transport Proteins/genetics [MESH]A systematic screening to identify de novo mutations causing sporadic (epmc).pdf DeepDyve Pubget Overpricing