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10.1002/humu.22933 http://scihub22266oqcxt.onion/10.1002/humu.22933 C4752430!4752430!26593112     free     free     free Deprecated: Implicit conversion from float 229.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 229.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 229.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 229.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 229.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 229.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 229.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 229.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 263.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 263.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 263.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 263.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 263.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 296.79999999999995 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 296.79999999999995 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 296.79999999999995 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Hum+Mutat 2016 ; 37 (3): 242-5 Nephropedia Template TP {{tp|p=26593112|t=2016. Identification and characterisation of a novel constitutional PIK3CA mutation in a child lacking the typical segmental overgrowth of ?PIK3CA-Related Overgrowth Spectrum? (PROS) |pdf=|usr=}}{{26593112}} gab.com Text Identification and characterisation of a novel constitutional PIK3CA mutation in a child lacking the typical segmental overgrowth of PIK3CA-Related Overgrowth Spectrum (PROS) JO: Hum Mutat http://www.kidney.de/pget.php?&tw=1&pmid=26593112 #FOAvip Activating somatic PIK3CA mutations underlie a growing heterogeneous spectrum of segmental overgrowth disorders. We report the identification and evaluation of a novel de novo constitutional PIK3CA mutation (NM_006218.2:c.335T>A, p.Ile112Asn) in a child with congenital megalencephaly and macrosomia. Functional characterization of patient cells using a variety of endpoints demonstrates increased Phosphatidylinositol-3-kinase (PI3K) activity. The mutation lies in a linker region adjacent to the p85 (PIK3R2) binding domain of the p110? (PIK3CA) catalytic subunit of PI3K. We show that altered stoichiometry within the p85-p110 complex likely underlies the hyperactive PI3K-AKT-mTOR signaling in this instance. Our findings expand upon the recently proposed ?PIK3CA-Related Overgrowth Spectrum? (PROS) associated with PIKC3A-mutations and PI3K hyper-activation, adding constitutional PIK3CA mutations as an underlying cause of megalencephaly and macrosomia in newborns. Twit Text FOAVip Identification and characterisation of a novel constitutional PIK3CA mutation in a child lacking the typical segmental overgrowth of PIK3CA-Related Overgrowth Spectrum (PROS) ????Hum Mutat http://www.kidney.de/pget.php?&tw=1&pmid=26593112 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=26593112 #FOAvip English Wikipedia <ref>{{Cite pmid|26593112}}</ref> Identification and characterisation of a novel constitutional PIK3CA mutation in a child lacking the typical segmental overgrowth of ?PIK3CA-Related Overgrowth Spectrum? (PROS) #MMPMID26593112 Di Donato N; Rump A; Mirzaa GM; Alcantara D; Oliver A; Schrock E; Dobyns WB; O?Driscoll M Hum Mutat 2016[Mar]; 37 (3): 242-5 PMID26593112show ga Activating somatic PIK3CA mutations underlie a growing heterogeneous spectrum of segmental overgrowth disorders. We report the identification and evaluation of a novel de novo constitutional PIK3CA mutation (NM_006218.2:c.335T>A, p.Ile112Asn) in a child with congenital megalencephaly and macrosomia. Functional characterization of patient cells using a variety of endpoints demonstrates increased Phosphatidylinositol-3-kinase (PI3K) activity. The mutation lies in a linker region adjacent to the p85 (PIK3R2) binding domain of the p110? (PIK3CA) catalytic subunit of PI3K. We show that altered stoichiometry within the p85-p110 complex likely underlies the hyperactive PI3K-AKT-mTOR signaling in this instance. Our findings expand upon the recently proposed ?PIK3CA-Related Overgrowth Spectrum? (PROS) associated with PIKC3A-mutations and PI3K hyper-activation, adding constitutional PIK3CA mutations as an underlying cause of megalencephaly and macrosomia in newborns. äIdentification and characterisation of a novel constitutional PIK3CA m(epmc).pdf DeepDyve Pubget Overpricing