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10.1016/j.ajhg.2017.03.010 http://scihub22266oqcxt.onion/10.1016/j.ajhg.2017.03.010 28475857/?report=reader!5420355!28475857     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       Am+J+Hum+Genet 2017 ; 100 (5): 725-736 Nephropedia Template TP {{tp|p=28475857|t=2017. Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability |pdf=|usr=}}{{28475857}} gab.com Text Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability JO: Am J Hum Genet http://www.kidney.de/pget.php?&tw=1&pmid=28475857 #FOAvip To explore the genetic architecture of human overgrowth syndromes and human growth control, we performed experimental and bioinformatic analyses of 710 individuals with overgrowth (height and/or head circumference >/=+2 SD) and intellectual disability (OGID). We identified a causal mutation in 1 of 14 genes in 50% (353/710). This includes HIST1H1E, encoding histone H1.4, which has not been associated with a developmental disorder previously. The pathogenic HIST1H1E mutations are predicted to result in a product that is less effective in neutralizing negatively charged linker DNA because it has a reduced net charge, and in DNA binding and protein-protein interactions because key residues are truncated. Functional network analyses demonstrated that epigenetic regulation is a prominent biological process dysregulated in individuals with OGID. Mutations in six epigenetic regulation genes-NSD1, EZH2, DNMT3A, CHD8, HIST1H1E, and EED-accounted for 44% of individuals (311/710). There was significant overlap between the 14 genes involved in OGID and 611 genes in regions identified in GWASs to be associated with height (p = 6.84 x 10(-8)), suggesting that a common variation impacting function of genes involved in OGID influences height at a population level. Increased cellular growth is a hallmark of cancer and there was striking overlap between the genes involved in OGID and 260 somatically mutated cancer driver genes (p = 1.75 x 10(-14)). However, the mutation spectra of genes involved in OGID and cancer differ, suggesting complex genotype-phenotype relationships. These data reveal insights into the genetic control of human growth and demonstrate that exome sequencing in OGID has a high diagnostic yield. Twit Text FOAVip Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability ????Am J Hum Genet http://www.kidney.de/pget.php?&tw=1&pmid=28475857 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=28475857 #FOAvip English Wikipedia <ref>{{Cite pmid|28475857}}</ref> Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability #MMPMID28475857 Tatton-Brown K; Loveday C; Yost S; Clarke M; Ramsay E; Zachariou A; Elliott A; Wylie H; Ardissone A; Rittinger O; Stewart F; Temple IK; Cole T; Mahamdallie S; Seal S; Ruark E; Rahman N Am J Hum Genet 2017[May]; 100 (5): 725-736 PMID28475857show ga To explore the genetic architecture of human overgrowth syndromes and human growth control, we performed experimental and bioinformatic analyses of 710 individuals with overgrowth (height and/or head circumference >/=+2 SD) and intellectual disability (OGID). We identified a causal mutation in 1 of 14 genes in 50% (353/710). This includes HIST1H1E, encoding histone H1.4, which has not been associated with a developmental disorder previously. The pathogenic HIST1H1E mutations are predicted to result in a product that is less effective in neutralizing negatively charged linker DNA because it has a reduced net charge, and in DNA binding and protein-protein interactions because key residues are truncated. Functional network analyses demonstrated that epigenetic regulation is a prominent biological process dysregulated in individuals with OGID. Mutations in six epigenetic regulation genes-NSD1, EZH2, DNMT3A, CHD8, HIST1H1E, and EED-accounted for 44% of individuals (311/710). There was significant overlap between the 14 genes involved in OGID and 611 genes in regions identified in GWASs to be associated with height (p = 6.84 x 10(-8)), suggesting that a common variation impacting function of genes involved in OGID influences height at a population level. Increased cellular growth is a hallmark of cancer and there was striking overlap between the genes involved in OGID and 260 somatically mutated cancer driver genes (p = 1.75 x 10(-14)). However, the mutation spectra of genes involved in OGID and cancer differ, suggesting complex genotype-phenotype relationships. These data reveal insights into the genetic control of human growth and demonstrate that exome sequencing in OGID has a high diagnostic yield. |*Epigenesis, Genetic[MESH] |*Mutation[MESH] |Adolescent[MESH] |Amino Acid Sequence[MESH] |Child[MESH] |Child, Preschool[MESH] |DNA (Cytosine-5-)-Methyltransferases/genetics[MESH] |DNA Methyltransferase 3A[MESH] |DNA-Binding Proteins/genetics[MESH] |Developmental Disabilities/diagnosis/*genetics[MESH] |Enhancer of Zeste Homolog 2 Protein/genetics[MESH] |Female[MESH] |Gene Expression Regulation[MESH] |Genetic Loci[MESH] |Genome-Wide Association Study[MESH] |Histone Methyltransferases[MESH] |Histone-Lysine N-Methyltransferase[MESH] |Histones/genetics[MESH] |Humans[MESH] |Infant[MESH] |Intellectual Disability/diagnosis/*genetics[MESH] |Intracellular Signaling Peptides and Proteins/genetics[MESH] |Linkage Disequilibrium[MESH] |Male[MESH] |Neoplasms/diagnosis/genetics[MESH] |Nuclear Proteins/genetics[MESH] |Sequence Analysis, DNA[MESH]Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrow(epmc).pdf DeepDyve Pubget Overpricing