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Voineagu I Wang X Johnston P Lowe JK Tian Y Horvath S Mill J Cantor RM Blencowe BJ Geschwind DH 《Nature》2011,474(7351):380-384
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De novo mutations revealed by whole-exome sequencing are strongly associated with autism 总被引:1,自引:0,他引:1
Sanders SJ Murtha MT Gupta AR Murdoch JD Raubeson MJ Willsey AJ Ercan-Sencicek AG DiLullo NM Parikshak NN Stein JL Walker MF Ober GT Teran NA Song Y El-Fishawy P Murtha RC Choi M Overton JD Bjornson RD Carriero NJ Meyer KA Bilguvar K Mane SM Sestan N Lifton RP Günel M Roeder K Geschwind DH Devlin B State MW 《Nature》2012,485(7397):237-241
Multiple studies have confirmed the contribution of rare de novo copy number variations to the risk for autism spectrum disorders. But whereas de novo single nucleotide variants have been identified in affected individuals, their contribution to risk has yet to be clarified. Specifically, the frequency and distribution of these mutations have not been well characterized in matched unaffected controls, and such data are vital to the interpretation of de novo coding mutations observed in probands. Here we show, using whole-exome sequencing of 928 individuals, including 200 phenotypically discordant sibling pairs, that highly disruptive (nonsense and splice-site) de novo mutations in brain-expressed genes are associated with autism spectrum disorders and carry large effects. On the basis of mutation rates in unaffected individuals, we demonstrate that multiple independent de novo single nucleotide variants in the same gene among unrelated probands reliably identifies risk alleles, providing a clear path forward for gene discovery. Among a total of 279 identified de novo coding mutations, there is a single instance in probands, and none in siblings, in which two independent nonsense variants disrupt the same gene, SCN2A (sodium channel, voltage-gated, type II, α subunit), a result that is highly unlikely by chance. 相似文献
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Plasma prolactin levels in fetal sheep 总被引:1,自引:0,他引:1
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Sloan JL Johnston JJ Manoli I Chandler RJ Krause C Carrillo-Carrasco N Chandrasekaran SD Sysol JR O'Brien K Hauser NS Sapp JC Dorward HM Huizing M;NIH Intramural Sequencing Center Group Barshop BA Berry SA James PM Champaigne NL de Lonlay P Valayannopoulos V Geschwind MD Gavrilov DK Nyhan WL Biesecker LG Venditti CP 《Nature genetics》2011,43(9):883-886
We used exome sequencing to identify the genetic basis of combined malonic and methylmalonic aciduria (CMAMMA). We sequenced the exome of an individual with CMAMMA and followed up with sequencing of eight additional affected individuals (cases). This included one individual who was identified and diagnosed by searching an exome database. We identify mutations in ACSF3, encoding a putative methylmalonyl-CoA and malonyl-CoA synthetase as a cause of CMAMMA. We also examined a canine model of CMAMMA, which showed pathogenic mutations in a predicted ACSF3 ortholog. ACSF3 mutant alleles occur with a minor allele frequency of 0.0058 in ~1,000 control individuals, predicting a CMAMMA population incidence of ~1:30,000. ACSF3 deficiency is the first human disorder identified as caused by mutations in a gene encoding a member of the acyl-CoA synthetase family, a diverse group of evolutionarily conserved proteins, and may emerge as one of the more common human metabolic disorders. 相似文献
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Zusammenfassung Entwicklung und Spezifität eines radioimmunologischen Verfahrens für Schaf-Prolaktin. Zirkulierende Prolaktinmengen wurden in Fetussen bestimmt und vom 110. bis zum 122. Tage bedeutende Prolaktinmengen festgestellt.
Supported by a grant No. HD-00394 from the National Institutes of Health. 相似文献
Supported by a grant No. HD-00394 from the National Institutes of Health. 相似文献
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