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10.1086/425343 http://scihub22266oqcxt.onion/10.1086/425343 15372379/?report=reader!1182113!15372379     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       Am+J+Hum+Genet 2004 ; 75 (5): 844-9 Nephropedia Template TP {{tp|p=15372379|t=2004. Microdeletion of LIT1 in familial Beckwith-Wiedemann syndrome |pdf=|usr=}}{{15372379}} gab.com Text Microdeletion of LIT1 in familial Beckwith-Wiedemann syndrome JO: Am J Hum Genet http://www.kidney.de/pget.php?&tw=1&pmid=15372379 #FOAvip Beckwith-Wiedemann syndrome (BWS), which causes prenatal overgrowth, midline abdominal wall defects, macroglossia, and embryonal tumors, is a model for understanding the relationship between genomic imprinting, human development, and cancer. The causes are heterogeneous, involving multiple genes on 11p15 and including infrequent mutation of p57(KIP2) or loss of imprinting of either of two imprinted gene domains on 11p15: LIT1, which is near p57(KIP2), or H19/IGF2. Unlike Prader-Willi and Angelman syndromes, no chromosomal deletions have yet been identified. Here we report a microdeletion including the entire LIT1 gene, providing genetic confirmation of the importance of this gene region in BWS. When inherited maternally, the deletion causes BWS with silencing of p57(KIP2), indicating deletion of an element important for the regulation of p57(KIP2) expression. When inherited paternally, there is no phenotype, suggesting that the LIT1 RNA itself is not necessary for normal development in humans. Twit Text FOAVip Microdeletion of LIT1 in familial Beckwith-Wiedemann syndrome ????Am J Hum Genet http://www.kidney.de/pget.php?&tw=1&pmid=15372379 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=15372379 #FOAvip English Wikipedia <ref>{{Cite pmid|15372379}}</ref> Microdeletion of LIT1 in familial Beckwith-Wiedemann syndrome #MMPMID15372379 Niemitz EL; DeBaun MR; Fallon J; Murakami K; Kugoh H; Oshimura M; Feinberg AP Am J Hum Genet 2004[Nov]; 75 (5): 844-9 PMID15372379show ga Beckwith-Wiedemann syndrome (BWS), which causes prenatal overgrowth, midline abdominal wall defects, macroglossia, and embryonal tumors, is a model for understanding the relationship between genomic imprinting, human development, and cancer. The causes are heterogeneous, involving multiple genes on 11p15 and including infrequent mutation of p57(KIP2) or loss of imprinting of either of two imprinted gene domains on 11p15: LIT1, which is near p57(KIP2), or H19/IGF2. Unlike Prader-Willi and Angelman syndromes, no chromosomal deletions have yet been identified. Here we report a microdeletion including the entire LIT1 gene, providing genetic confirmation of the importance of this gene region in BWS. When inherited maternally, the deletion causes BWS with silencing of p57(KIP2), indicating deletion of an element important for the regulation of p57(KIP2) expression. When inherited paternally, there is no phenotype, suggesting that the LIT1 RNA itself is not necessary for normal development in humans. |*Gene Deletion[MESH] |*Gene Expression[MESH] |Beckwith-Wiedemann Syndrome/*genetics[MESH] |Chromosomes, Human, Pair 11/*genetics[MESH] |Cyclin-Dependent Kinase Inhibitor p57[MESH] |DNA Primers[MESH] |Haplotypes/genetics[MESH] |Humans[MESH] |In Situ Hybridization, Fluorescence[MESH] |Karyotyping[MESH] |Membrane Proteins/*genetics[MESH] |Nuclear Proteins[MESH] |Potassium Channels, Voltage-Gated/*genetics[MESH]Microdeletion of LIT1 in familial Beckwith-Wiedemann syndrome (epmc).pdf DeepDyve Pubget Overpricing