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10.1016/j.ajhg.2013.05.007 http://scihub22266oqcxt.onion/10.1016/j.ajhg.2013.05.007 23746550/?report=reader!3710752!23746550     free     free     free 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 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Am+J+Hum+Genet 2013 ; 93 (1): 124-31 Nephropedia Template TP {{tp|p=23746550|t=2013. De novo mutations in the genome organizer CTCF cause intellectual disability |pdf=|usr=}}{{23746550}} gab.com Text De novo mutations in the genome organizer CTCF cause intellectual disability JO: Am J Hum Genet http://www.kidney.de/pget.php?&tw=1&pmid=23746550 #FOAvip An increasing number of genes involved in chromatin structure and epigenetic regulation has been implicated in a variety of developmental disorders, often including intellectual disability. By trio exome sequencing and subsequent mutational screening we now identified two de novo frameshift mutations and one de novo missense mutation in CTCF in individuals with intellectual disability, microcephaly, and growth retardation. Furthermore, an individual with a larger deletion including CTCF was identified. CTCF (CCCTC-binding factor) is one of the most important chromatin organizers in vertebrates and is involved in various chromatin regulation processes such as higher order of chromatin organization, enhancer function, and maintenance of three-dimensional chromatin structure. Transcriptome analyses in all three individuals with point mutations revealed deregulation of genes involved in signal transduction and emphasized the role of CTCF in enhancer-driven expression of genes. Our findings indicate that haploinsufficiency of CTCF affects genomic interaction of enhancers and their regulated gene promoters that drive developmental processes and cognition. Twit Text FOAVip De novo mutations in the genome organizer CTCF cause intellectual disability ????Am J Hum Genet http://www.kidney.de/pget.php?&tw=1&pmid=23746550 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=23746550 #FOAvip English Wikipedia <ref>{{Cite pmid|23746550}}</ref> De novo mutations in the genome organizer CTCF cause intellectual disability #MMPMID23746550 Gregor A; Oti M; Kouwenhoven EN; Hoyer J; Sticht H; Ekici AB; Kjaergaard S; Rauch A; Stunnenberg HG; Uebe S; Vasileiou G; Reis A; Zhou H; Zweier C Am J Hum Genet 2013[Jul]; 93 (1): 124-31 PMID23746550show ga An increasing number of genes involved in chromatin structure and epigenetic regulation has been implicated in a variety of developmental disorders, often including intellectual disability. By trio exome sequencing and subsequent mutational screening we now identified two de novo frameshift mutations and one de novo missense mutation in CTCF in individuals with intellectual disability, microcephaly, and growth retardation. Furthermore, an individual with a larger deletion including CTCF was identified. CTCF (CCCTC-binding factor) is one of the most important chromatin organizers in vertebrates and is involved in various chromatin regulation processes such as higher order of chromatin organization, enhancer function, and maintenance of three-dimensional chromatin structure. Transcriptome analyses in all three individuals with point mutations revealed deregulation of genes involved in signal transduction and emphasized the role of CTCF in enhancer-driven expression of genes. Our findings indicate that haploinsufficiency of CTCF affects genomic interaction of enhancers and their regulated gene promoters that drive developmental processes and cognition. |*Frameshift Mutation[MESH] |*Mutation, Missense[MESH] |Adolescent[MESH] |CCCTC-Binding Factor[MESH] |Child[MESH] |Child, Preschool[MESH] |Chromatin/genetics/metabolism[MESH] |DNA Mutational Analysis[MESH] |Enhancer Elements, Genetic[MESH] |Exome[MESH] |Female[MESH] |Gene Expression Profiling[MESH] |Gene Expression Regulation[MESH] |Genome, Human[MESH] |Haploinsufficiency[MESH] |Humans[MESH] |Intellectual Disability/*genetics[MESH] |Male[MESH] |Microcephaly/genetics[MESH] |Point Mutation[MESH] |Polymorphism, Single Nucleotide[MESH] |Promoter Regions, Genetic[MESH] |Repressor Proteins/*genetics[MESH]De novo mutations in the genome organizer CTCF cause intellectual disa(epmc).pdf DeepDyve Pubget Overpricing