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10.1016/j.spen.2009.06.002 http://scihub22266oqcxt.onion/10.1016/j.spen.2009.06.002 19778711!2804071!19778711     free     free     free Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Semin+Pediatr+Neurol 2009 ; 16 (3): 143-54 Nephropedia Template TP {{tp|p=19778711|t=2009. Joubert syndrome: insights into brain development, cilium biology, and complex disease |pdf=|usr=}}{{19778711}} gab.com Text Joubert syndrome: insights into brain development, cilium biology, and complex disease JO: Semin Pediatr Neurol http://www.kidney.de/pget.php?&tw=1&pmid=19778711 #FOAvip Joubert syndrome (JS) is a primarily autosomal recessive condition characterized by hypotonia, ataxia, abnormal eye movements, and intellectual disability with a distinctive mid-hindbrain malformation (the "molar tooth sign"). Variable features include retinal dystrophy, cystic kidney disease, liver fibrosis and polydactyly. Recently, substantial progress has been made in our understanding of the genetic basis of JS, including identification of seven causal genes (NPHP1, AHI1, CEP290, RPGRIP1L, TMEM67/MKS3, ARL13B and CC2D2A). Despite this progress, the known genes account for <50% of cases and few strong genotype-phenotype correlations exist in JS; however, genetic testing can be prioritized based on clinical features. While all seven JS genes have been implicated in the function of the primary cilium/basal body organelle (PC/BB), little is known about how the PC/BB is required for brain, kidney, retina and liver development/function, nor how disruption of PC/BB function leads to diseases of these organs. Recent work on the function of the PC/BB indicates that the organelle is required for multiple signaling pathways including sonic hedgehog, WNT and platelet derived growth factor. Due to shared clinical features and underlying molecular pathophysiology, JS is included in the rapidly expanding group of disorders called ciliopathies. The ciliopathies are emerging as models for more complex diseases, where sequence variants in multiple genes contribute to the phenotype expressed in any given patient. Twit Text FOAVip Joubert syndrome: insights into brain development, cilium biology, and complex disease ????Semin Pediatr Neurol http://www.kidney.de/pget.php?&tw=1&pmid=19778711 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=19778711 #FOAvip English Wikipedia <ref>{{Cite pmid|19778711}}</ref> Joubert syndrome: insights into brain development, cilium biology, and complex disease #MMPMID19778711 Doherty D Semin Pediatr Neurol 2009[Sep]; 16 (3): 143-54 PMID19778711show ga Joubert syndrome (JS) is a primarily autosomal recessive condition characterized by hypotonia, ataxia, abnormal eye movements, and intellectual disability with a distinctive mid-hindbrain malformation (the "molar tooth sign"). Variable features include retinal dystrophy, cystic kidney disease, liver fibrosis and polydactyly. Recently, substantial progress has been made in our understanding of the genetic basis of JS, including identification of seven causal genes (NPHP1, AHI1, CEP290, RPGRIP1L, TMEM67/MKS3, ARL13B and CC2D2A). Despite this progress, the known genes account for <50% of cases and few strong genotype-phenotype correlations exist in JS; however, genetic testing can be prioritized based on clinical features. While all seven JS genes have been implicated in the function of the primary cilium/basal body organelle (PC/BB), little is known about how the PC/BB is required for brain, kidney, retina and liver development/function, nor how disruption of PC/BB function leads to diseases of these organs. Recent work on the function of the PC/BB indicates that the organelle is required for multiple signaling pathways including sonic hedgehog, WNT and platelet derived growth factor. Due to shared clinical features and underlying molecular pathophysiology, JS is included in the rapidly expanding group of disorders called ciliopathies. The ciliopathies are emerging as models for more complex diseases, where sequence variants in multiple genes contribute to the phenotype expressed in any given patient. |Animals[MESH] |Behavior[MESH] |Bone and Bones/pathology[MESH] |Brain Diseases/drug therapy/genetics/*pathology/*psychology[MESH] |Brain/*abnormalities/pathology[MESH] |Cilia/pathology/*physiology[MESH] |Cognition/physiology[MESH] |Eye/pathology[MESH] |Humans[MESH] |Kidney/pathology[MESH] |Liver/pathology[MESH]Joubert syndrome: insights into brain development, cilium biology, and(epmc).pdf DeepDyve Pubget Overpricing