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10.1002/ajmg.a.36455 http://scihub22266oqcxt.onion/10.1002/ajmg.a.36455 C4526214!4526214!24665072     free     free     free Deprecated: Implicit conversion from float 209.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Am+J+Med+Genet+A 2014 ; ä (10): 2443-54 Nephropedia Template TP {{tp|p=24665072|t=2014. Modeling AEC?New Approaches to Study Rare Genetic Disorders |pdf=|usr=}}{{24665072}} gab.com Text Modeling AEC New Approaches to Study Rare Genetic Disorders JO: Am J Med Genet A http://www.kidney.de/pget.php?&tw=1&pmid=24665072 #FOAvip Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is a rare monogenetic disorder that is characterized by severe abnormalities in ectoderm-derived tissues, such as skin and its appendages. A major cause of morbidity among affected infants is severe and chronic skin erosions. Currently, supportive care is the only available treatment option for AEC patients. Mutations in TP63, a gene that encodes key regulators of epidermal development, are the genetic cause of AEC. However, it is currently not clear how mutations in TP63 lead to the various defects seen in the patients? skin. In this review, we will discuss current knowledge of the AEC disease mechanism obtained by studying patient tissue and genetically engineered mouse models designed to mimic aspects of the disorder. We will then focus on new approaches to model AEC, including the use of patient cells and stem cell technology to replicate the disease in a human tissue culture model. The latter approach will advance our understanding of the disease and will allow for the development of new in vitro systems to identify drugs for the treatment of skin erosions in AEC patients. Further, the use of stem cell technology, in particular induced pluripotent stem cells (iPSC), will enable researchers to develop new therapeutic approaches to treat the disease using the patient?s own cells (autologous keratinocyte transplantation) after correction of the disease-causing mutations. Twit Text FOAVip Modeling AEC New Approaches to Study Rare Genetic Disorders ????Am J Med Genet A http://www.kidney.de/pget.php?&tw=1&pmid=24665072 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=24665072 #FOAvip English Wikipedia <ref>{{Cite pmid|24665072}}</ref> Modeling AEC?New Approaches to Study Rare Genetic Disorders #MMPMID24665072 Koch PJ; Dinella J; Fete M; Siegfried EC; Koster MI Am J Med Genet A 2014[Oct]; ä (10): 2443-54 PMID24665072show ga Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is a rare monogenetic disorder that is characterized by severe abnormalities in ectoderm-derived tissues, such as skin and its appendages. A major cause of morbidity among affected infants is severe and chronic skin erosions. Currently, supportive care is the only available treatment option for AEC patients. Mutations in TP63, a gene that encodes key regulators of epidermal development, are the genetic cause of AEC. However, it is currently not clear how mutations in TP63 lead to the various defects seen in the patients? skin. In this review, we will discuss current knowledge of the AEC disease mechanism obtained by studying patient tissue and genetically engineered mouse models designed to mimic aspects of the disorder. We will then focus on new approaches to model AEC, including the use of patient cells and stem cell technology to replicate the disease in a human tissue culture model. The latter approach will advance our understanding of the disease and will allow for the development of new in vitro systems to identify drugs for the treatment of skin erosions in AEC patients. Further, the use of stem cell technology, in particular induced pluripotent stem cells (iPSC), will enable researchers to develop new therapeutic approaches to treat the disease using the patient?s own cells (autologous keratinocyte transplantation) after correction of the disease-causing mutations. äModeling AEC?New Approaches to Study Rare Genetic Disorders (epmc).pdf DeepDyve Pubget Overpricing