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10.1016/j.ajhg.2010.07.001 http://scihub22266oqcxt.onion/10.1016/j.ajhg.2010.07.001 20673863/?report=reader!2917711!20673863     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 267.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 267.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 267.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 267.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 267.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Am+J+Hum+Genet 2010 ; 87 (2): 189-98 Nephropedia Template TP {{tp|p=20673863|t=2010. Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome |pdf=|usr=}}{{20673863}} gab.com Text Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome JO: Am J Hum Genet http://www.kidney.de/pget.php?&tw=1&pmid=20673863 #FOAvip By using a combination of array comparative genomic hybridization and a candidate gene approach, we identified nuclear factor I/X (NFIX) deletions or nonsense mutation in three sporadic cases of a Sotos-like overgrowth syndrome with advanced bone age, macrocephaly, developmental delay, scoliosis, and unusual facies. Unlike the aforementioned human syndrome, Nfix-deficient mice are unable to gain weight and die in the first 3 postnatal weeks, while they also present with a spinal deformation and decreased bone mineralization. These features prompted us to consider NFIX as a candidate gene for Marshall-Smith syndrome (MSS), a severe malformation syndrome characterized by failure to thrive, respiratory insufficiency, accelerated osseous maturation, kyphoscoliosis, osteopenia, and unusual facies. Distinct frameshift and splice NFIX mutations that escaped nonsense-mediated mRNA decay (NMD) were identified in nine MSS subjects. NFIX belongs to the Nuclear factor one (NFI) family of transcription factors, but its specific function is presently unknown. We demonstrate that NFIX is normally expressed prenatally during human brain development and skeletogenesis. These findings demonstrate that allelic NFIX mutations trigger distinct phenotypes, depending specifically on their impact on NMD. Twit Text FOAVip Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome ????Am J Hum Genet http://www.kidney.de/pget.php?&tw=1&pmid=20673863 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=20673863 #FOAvip English Wikipedia <ref>{{Cite pmid|20673863}}</ref> Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome #MMPMID20673863 Malan V; Rajan D; Thomas S; Shaw AC; Louis Dit Picard H; Layet V; Till M; van Haeringen A; Mortier G; Nampoothiri S; Puseljic S; Legeai-Mallet L; Carter NP; Vekemans M; Munnich A; Hennekam RC; Colleaux L; Cormier-Daire V Am J Hum Genet 2010[Aug]; 87 (2): 189-98 PMID20673863show ga By using a combination of array comparative genomic hybridization and a candidate gene approach, we identified nuclear factor I/X (NFIX) deletions or nonsense mutation in three sporadic cases of a Sotos-like overgrowth syndrome with advanced bone age, macrocephaly, developmental delay, scoliosis, and unusual facies. Unlike the aforementioned human syndrome, Nfix-deficient mice are unable to gain weight and die in the first 3 postnatal weeks, while they also present with a spinal deformation and decreased bone mineralization. These features prompted us to consider NFIX as a candidate gene for Marshall-Smith syndrome (MSS), a severe malformation syndrome characterized by failure to thrive, respiratory insufficiency, accelerated osseous maturation, kyphoscoliosis, osteopenia, and unusual facies. Distinct frameshift and splice NFIX mutations that escaped nonsense-mediated mRNA decay (NMD) were identified in nine MSS subjects. NFIX belongs to the Nuclear factor one (NFI) family of transcription factors, but its specific function is presently unknown. We demonstrate that NFIX is normally expressed prenatally during human brain development and skeletogenesis. These findings demonstrate that allelic NFIX mutations trigger distinct phenotypes, depending specifically on their impact on NMD. |*Alleles[MESH] |Abnormalities, Multiple/*genetics[MESH] |Adolescent[MESH] |Adult[MESH] |Base Sequence[MESH] |Child[MESH] |Chromosomes, Human, Pair 19/genetics[MESH] |Codon, Nonsense/*genetics[MESH] |Comparative Genomic Hybridization[MESH] |DNA Mutational Analysis[MESH] |Female[MESH] |Gene Expression Regulation[MESH] |Genetic Testing[MESH] |Humans[MESH] |In Situ Hybridization[MESH] |Male[MESH] |Molecular Sequence Data[MESH] |Mutation/*genetics[MESH] |NFI Transcription Factors/*genetics/metabolism[MESH] |RNA Stability/*genetics[MESH] |RNA, Messenger/genetics[MESH] |Reverse Transcriptase Polymerase Chain Reaction[MESH]Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA d(epmc).pdf DeepDyve Pubget Overpricing