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10.1038/s41467-017-01590-5 http://scihub22266oqcxt.onion/10.1038/s41467-017-01590-5 C5691144!5691144 !29146900     free     free     free Warning: file_get_contents(https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&id=29146900 &cmd=llinks): Failed to open stream: HTTP request failed! HTTP/1.1 429 Too Many Requests in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 215 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 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\29146900 .jpg): Failed to open stream: No such file or directory in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 117       Nat+Commun 2017 ; 8 (1 ): 1557 Nephropedia Template TP {{tp|p=29146900 |t=2017. The genomic landscape of pediatric myelodysplastic syndromes |pdf=|usr=}}{{29146900 }} gab.com Text The genomic landscape of pediatric myelodysplastic syndromes JO: Nat Commun http://www.kidney.de/pget.php?&tw=1&pmid=29146900 #FOAvip Myelodysplastic syndromes (MDS) are uncommon in children and have a poor prognosis. In contrast to adult MDS, little is known about the genomic landscape of pediatric MDS. Here, we describe the somatic and germline changes of pediatric MDS using whole exome sequencing, targeted amplicon sequencing, and/or RNA-sequencing of 46 pediatric primary MDS patients. Our data show that, in contrast to adult MDS, Ras/MAPK pathway mutations are common in pediatric MDS (45% of primary cohort), while mutations in RNA splicing genes are rare (2% of primary cohort). Surprisingly, germline variants in SAMD9 or SAMD9L were present in 17% of primary MDS patients, and these variants were routinely lost in the tumor cells by chromosomal deletions (e.g., monosomy 7) or copy number neutral loss of heterozygosity (CN-LOH). Our data confirm that adult and pediatric MDS are separate diseases with disparate mechanisms, and that SAMD9/SAMD9L mutations represent a new class of MDS predisposition. Twit Text FOAVip The genomic landscape of pediatric myelodysplastic syndromes ????Nat Commun http://www.kidney.de/pget.php?&tw=1&pmid=29146900 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=29146900 #FOAvip English Wikipedia <ref>{{Cite pmid|29146900 }}</ref> The genomic landscape of pediatric myelodysplastic syndromes #MMPMID29146900 Schwartz JR ; Ma J ; Lamprecht T ; Walsh M ; Wang S ; Bryant V ; Song G ; Wu G ; Easton J ; Kesserwan C ; Nichols KE ; Mullighan CG ; Ribeiro RC ; Klco JM Nat Commun 2017[Nov]; 8 (1 ): 1557 PMID29146900 show ga Myelodysplastic syndromes (MDS) are uncommon in children and have a poor prognosis. In contrast to adult MDS, little is known about the genomic landscape of pediatric MDS. Here, we describe the somatic and germline changes of pediatric MDS using whole exome sequencing, targeted amplicon sequencing, and/or RNA-sequencing of 46 pediatric primary MDS patients. Our data show that, in contrast to adult MDS, Ras/MAPK pathway mutations are common in pediatric MDS (45% of primary cohort), while mutations in RNA splicing genes are rare (2% of primary cohort). Surprisingly, germline variants in SAMD9 or SAMD9L were present in 17% of primary MDS patients, and these variants were routinely lost in the tumor cells by chromosomal deletions (e.g., monosomy 7) or copy number neutral loss of heterozygosity (CN-LOH). Our data confirm that adult and pediatric MDS are separate diseases with disparate mechanisms, and that SAMD9/SAMD9L mutations represent a new class of MDS predisposition. |*Mutation [MESH] |Adult [MESH] |Animals [MESH] |Cell Line [MESH] |Child [MESH] |Cohort Studies [MESH] |Genetic Predisposition to Disease/*genetics [MESH] |Genomics/*methods [MESH] |HEK293 Cells [MESH] |Humans [MESH] |Intracellular Signaling Peptides and Proteins [MESH] |Loss of Heterozygosity [MESH] |Mice [MESH] |Myelodysplastic Syndromes/*genetics/pathology [MESH] |Proteins/genetics [MESH] |Survival Analysis [MESH]The genomic landscape of pediatric myelodysplastic syndromes (epmc).pdf DeepDyve Pubget Overpricing