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10.1016/j.prrv.2015.09.001 http://scihub22266oqcxt.onion/10.1016/j.prrv.2015.09.001 C4864047!4864047!26476603     free     free     free Warning: file_get_contents(https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&id=26476603&cmd=llinks): Failed to open stream: HTTP request failed! HTTP/1.1 429 Too Many Requests in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 215 Warning: imagejpeg(C:\Inetpub\vhosts\kidney.de\httpdocs\phplern\26476603.jpg): Failed to open stream: No such file or directory in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 117       Paediatr+Respir+Rev 2016 ; 18 (ä): 18-24 Nephropedia Template TP {{tp|p=26476603|t=2016. Genetics and Biology of Primary Ciliary Dyskinesia |pdf=|usr=}}{{26476603}} gab.com Text Genetics and Biology of Primary Ciliary Dyskinesia JO: Paediatr Respir Rev http://www.kidney.de/pget.php?&tw=1&pmid=26476603 #FOAvip Ciliopathies are a growing class of disorders caused by abnormal ciliary axonemal structure and function. Our understanding of the complex genetic and functional phenotypes of these conditions has rapidly progressed. Primary ciliary dyskinesia (PCD) remains the sole genetic disorder of motile cilia dysfunction. However, unlike many Mendelian genetic disorders, PCD is not caused by mutations in a single gene or locus, but rather, autosomal recessive mutation in one of many genes that lead to a similar phenotype. The first reported PCD mutations, more than a decade ago, identified genes encoding known structural components of the ciliary axoneme. In recent years, mutations in genes encoding novel cytoplasmic and regulatory proteins have been discovered. These findings have provided new insights into the functions of the motile cilia, and a better understanding of motile cilia disease. Advances in genetic tools will soon allow more precise genetic testing, mandating that clinicians must understand the genetic basis of PCD. Here, we review genetic mutations, their biological impact on cilia structure and function, and the implication of emerging genetic diagnostic tools. Twit Text FOAVip Genetics and Biology of Primary Ciliary Dyskinesia ????Paediatr Respir Rev http://www.kidney.de/pget.php?&tw=1&pmid=26476603 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=26476603 #FOAvip English Wikipedia <ref>{{Cite pmid|26476603}}</ref> Genetics and Biology of Primary Ciliary Dyskinesia #MMPMID26476603 Horani A; Ferkol TW; Dutcher SK; Brody SL Paediatr Respir Rev 2016[Mar]; 18 (ä): 18-24 PMID26476603show ga Ciliopathies are a growing class of disorders caused by abnormal ciliary axonemal structure and function. Our understanding of the complex genetic and functional phenotypes of these conditions has rapidly progressed. Primary ciliary dyskinesia (PCD) remains the sole genetic disorder of motile cilia dysfunction. However, unlike many Mendelian genetic disorders, PCD is not caused by mutations in a single gene or locus, but rather, autosomal recessive mutation in one of many genes that lead to a similar phenotype. The first reported PCD mutations, more than a decade ago, identified genes encoding known structural components of the ciliary axoneme. In recent years, mutations in genes encoding novel cytoplasmic and regulatory proteins have been discovered. These findings have provided new insights into the functions of the motile cilia, and a better understanding of motile cilia disease. Advances in genetic tools will soon allow more precise genetic testing, mandating that clinicians must understand the genetic basis of PCD. Here, we review genetic mutations, their biological impact on cilia structure and function, and the implication of emerging genetic diagnostic tools. äGenetics and Biology of Primary Ciliary Dyskinesia (epmc).pdf DeepDyve Pubget Overpricing