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10.1016/j.ajhg.2013.10.028 http://scihub22266oqcxt.onion/10.1016/j.ajhg.2013.10.028 C3852925!3852925 !24290376     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 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 Warning: imagejpeg(C:\Inetpub\vhosts\kidney.de\httpdocs\phplern\24290376 .jpg): Failed to open stream: No such file or directory in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 117       Am+J+Hum+Genet 2013 ; 93 (6 ): 1126-34 Nephropedia Template TP {{tp|p=24290376 |t=2013. Disruption of autoregulatory feedback by a mutation in a remote, ultraconserved PAX6 enhancer causes aniridia |pdf=|usr=}}{{24290376 }} gab.com Text Disruption of autoregulatory feedback by a mutation in a remote, ultraconserved PAX6 enhancer causes aniridia JO: Am J Hum Genet http://www.kidney.de/pget.php?&tw=1&pmid=24290376 #FOAvip The strictly regulated expression of most pleiotropic developmental control genes is critically dependent on the activity of long-range cis-regulatory elements. This was revealed by the identification of individuals with a genetic condition lacking coding-region mutations in the gene commonly associated with the disease but having a variety of nearby chromosomal abnormalities, collectively described as cis-ruption disease cases. The congenital eye malformation aniridia is caused by haploinsufficiency of the developmental regulator PAX6. We discovered a de novo point mutation in an ultraconserved cis-element located 150 kb downstream from PAX6 in an affected individual with intact coding region and chromosomal locus. The element SIMO acts as a strong enhancer in developing ocular structures. The mutation disrupts an autoregulatory PAX6 binding site, causing loss of enhancer activity, resulting in defective maintenance of PAX6 expression. These findings reveal a distinct regulatory mechanism for genetic disease by disruption of an autoregulatory feedback loop critical for maintenance of gene expression through development. Twit Text FOAVip Disruption of autoregulatory feedback by a mutation in a remote, ultraconserved PAX6 enhancer causes aniridia ????Am J Hum Genet http://www.kidney.de/pget.php?&tw=1&pmid=24290376 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=24290376 #FOAvip English Wikipedia <ref>{{Cite pmid|24290376 }}</ref> Disruption of autoregulatory feedback by a mutation in a remote, ultraconserved PAX6 enhancer causes aniridia #MMPMID24290376 Bhatia S ; Bengani H ; Fish M ; Brown A ; Divizia MT ; de Marco R ; Damante G ; Grainger R ; van Heyningen V ; Kleinjan DA Am J Hum Genet 2013[Dec]; 93 (6 ): 1126-34 PMID24290376 show ga The strictly regulated expression of most pleiotropic developmental control genes is critically dependent on the activity of long-range cis-regulatory elements. This was revealed by the identification of individuals with a genetic condition lacking coding-region mutations in the gene commonly associated with the disease but having a variety of nearby chromosomal abnormalities, collectively described as cis-ruption disease cases. The congenital eye malformation aniridia is caused by haploinsufficiency of the developmental regulator PAX6. We discovered a de novo point mutation in an ultraconserved cis-element located 150 kb downstream from PAX6 in an affected individual with intact coding region and chromosomal locus. The element SIMO acts as a strong enhancer in developing ocular structures. The mutation disrupts an autoregulatory PAX6 binding site, causing loss of enhancer activity, resulting in defective maintenance of PAX6 expression. These findings reveal a distinct regulatory mechanism for genetic disease by disruption of an autoregulatory feedback loop critical for maintenance of gene expression through development. |*Enhancer Elements, Genetic [MESH] |*Mutation [MESH] |Animals [MESH] |Aniridia/diagnosis/*genetics/*metabolism [MESH] |Base Sequence [MESH] |Eye Proteins/*genetics [MESH] |Eye/pathology [MESH] |Gene Expression Regulation, Developmental [MESH] |Gene Order [MESH] |Homeodomain Proteins/*genetics [MESH] |Homeostasis/*genetics [MESH] |Humans [MESH] |Mice [MESH] |Molecular Sequence Data [MESH] |PAX6 Transcription Factor [MESH] |Paired Box Transcription Factors/*genetics [MESH] |Phenotype [MESH] |Repressor Proteins/*genetics [MESH] |Sequence Alignment [MESH]Disruption of autoregulatory feedback by a mutation in a remote, ultra(epmc).pdf DeepDyve Pubget Overpricing