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10.1586/17476348.2016.1165612 http://scihub22266oqcxt.onion/10.1586/17476348.2016.1165612 C4893162!4893162 !26967669     free     free     free Warning: file_get_contents(https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&id=26967669 &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 Deprecated: Implicit conversion from float 209.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 209.6 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\26967669 .jpg): Failed to open stream: No such file or directory in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 117       Expert+Rev+Respir+Med 2016 ; 10 (5 ): 569-76 Nephropedia Template TP {{tp|p=26967669 |t=2016. Primary ciliary dyskinesia and associated sensory ciliopathies |pdf=|usr=}}{{26967669 }} gab.com Text Primary ciliary dyskinesia and associated sensory ciliopathies JO: Expert Rev Respir Med http://www.kidney.de/pget.php?&tw=1&pmid=26967669 #FOAvip Primary ciliary dyskinesia (PCD) is a genetic disease of motile cilia, which belongs to a group of disorders resulting from dysfunction of cilia, collectively known as ciliopathies. Insights into the genetics and phenotypes of PCD have grown over the last decade, in part propagated by the discovery of a number of novel cilia-related genes. These genes encode proteins that segregate into structural axonemal, regulatory, as well as cytoplasmic assembly proteins. Our understanding of primary (sensory) cilia has also expanded, and an ever-growing list of diverse conditions has been linked to defective function and signaling of the sensory cilium. Recent multicenter clinical and genetic studies have uncovered the heterogeneity of motile and sensory ciliopathies, and in some cases, the overlap between these conditions. Here, we will describe the genetics and pathophysiology of ciliopathies in children, focusing on PCD, review emerging genotype-phenotype relationships, and diagnostic tools available for the clinician. Twit Text FOAVip Primary ciliary dyskinesia and associated sensory ciliopathies ????Expert Rev Respir Med http://www.kidney.de/pget.php?&tw=1&pmid=26967669 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=26967669 #FOAvip English Wikipedia <ref>{{Cite pmid|26967669 }}</ref> Primary ciliary dyskinesia and associated sensory ciliopathies #MMPMID26967669 Horani A ; Ferkol TW Expert Rev Respir Med 2016[]; 10 (5 ): 569-76 PMID26967669 show ga Primary ciliary dyskinesia (PCD) is a genetic disease of motile cilia, which belongs to a group of disorders resulting from dysfunction of cilia, collectively known as ciliopathies. Insights into the genetics and phenotypes of PCD have grown over the last decade, in part propagated by the discovery of a number of novel cilia-related genes. These genes encode proteins that segregate into structural axonemal, regulatory, as well as cytoplasmic assembly proteins. Our understanding of primary (sensory) cilia has also expanded, and an ever-growing list of diverse conditions has been linked to defective function and signaling of the sensory cilium. Recent multicenter clinical and genetic studies have uncovered the heterogeneity of motile and sensory ciliopathies, and in some cases, the overlap between these conditions. Here, we will describe the genetics and pathophysiology of ciliopathies in children, focusing on PCD, review emerging genotype-phenotype relationships, and diagnostic tools available for the clinician. |Ciliopathies/*genetics [MESH] |Genotype [MESH] |Humans [MESH] |Kartagener Syndrome/*genetics [MESH]Primary ciliary dyskinesia and associated sensory ciliopathies (epmc).pdf DeepDyve Pubget Overpricing