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A dictionary by aggregated review articles of nephrology, medicine and the life sciences Your one-stop-run pathway from word to the immediate pdf of peer-reviewed on-topic knowledge.

10.1007/s00431-009-1017-x http://scihub22266oqcxt.onion/10.1007/s00431-009-1017-x 19562370!2745545!19562370     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       Eur+J+Pediatr 2009 ; 168 (11): 1291-304 Nephropedia Template TP {{tp|p=19562370|t=2009. Molecular genetic analysis of podocyte genes in focal segmental glomerulosclerosis--a review |pdf=|usr=}}{{19562370}} gab.com Text Molecular genetic analysis of podocyte genes in focal segmental glomerulosclerosis--a review JO: Eur J Pediatr http://www.kidney.de/pget.php?&tw=1&pmid=19562370 #FOAvip This review deals with podocyte proteins that play a significant role in the structure and function of the glomerular filter. Genetic linkage studies has identified several genes involved in the development of nephrotic syndrome and contributed to the understanding of the pathophysiology of glomerular proteinuria and/or focal segmental glomerulosclerosis. Here, we describe already well-characterized genetic diseases due to mutations in nephrin, podocin, CD2AP, alpha-actinin-4, WT1, and laminin beta2 chain, as well as more recently identified genetic abnormalities in TRPC6, phospholipase C epsilon, and the proteins encoded by the mitochondrial genome. In addition, the role of the proteins which have shown to be important for the structure and functions by gene knockout studies in mice, are also discussed. Furthermore, some rare syndromes with glomerular involvement, in which molecular defects have been recently identified, are briefly described. In summary, this review updates the current knowledge of genetic causes of congenital and childhood nephrotic syndrome and provides new insights into mechanisms of glomerular dysfunction. Twit Text FOAVip Molecular genetic analysis of podocyte genes in focal segmental glomerulosclerosis--a review ????Eur J Pediatr http://www.kidney.de/pget.php?&tw=1&pmid=19562370 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=19562370 #FOAvip English Wikipedia <ref>{{Cite pmid|19562370}}</ref> Molecular genetic analysis of podocyte genes in focal segmental glomerulosclerosis--a review #MMPMID19562370 Lowik MM; Groenen PJ; Levtchenko EN; Monnens LA; van den Heuvel LP Eur J Pediatr 2009[Nov]; 168 (11): 1291-304 PMID19562370show ga This review deals with podocyte proteins that play a significant role in the structure and function of the glomerular filter. Genetic linkage studies has identified several genes involved in the development of nephrotic syndrome and contributed to the understanding of the pathophysiology of glomerular proteinuria and/or focal segmental glomerulosclerosis. Here, we describe already well-characterized genetic diseases due to mutations in nephrin, podocin, CD2AP, alpha-actinin-4, WT1, and laminin beta2 chain, as well as more recently identified genetic abnormalities in TRPC6, phospholipase C epsilon, and the proteins encoded by the mitochondrial genome. In addition, the role of the proteins which have shown to be important for the structure and functions by gene knockout studies in mice, are also discussed. Furthermore, some rare syndromes with glomerular involvement, in which molecular defects have been recently identified, are briefly described. In summary, this review updates the current knowledge of genetic causes of congenital and childhood nephrotic syndrome and provides new insights into mechanisms of glomerular dysfunction. |*Podocytes[MESH] |Actinin/genetics[MESH] |Adaptor Proteins, Signal Transducing/genetics[MESH] |Cytoskeletal Proteins/genetics[MESH] |Genetic Markers/*genetics[MESH] |Genome[MESH] |Glomerulosclerosis, Focal Segmental/*genetics/physiopathology[MESH] |Humans[MESH] |Intracellular Signaling Peptides and Proteins/genetics[MESH] |Kidney Glomerulus/*physiopathology[MESH] |Laminin/genetics[MESH] |Membrane Proteins/genetics[MESH] |Mutation[MESH] |Phosphoinositide Phospholipase C/genetics[MESH] |Proteinuria/genetics[MESH] |TRPC Cation Channels/genetics[MESH] |TRPC6 Cation Channel[MESH]Molecular genetic analysis of podocyte genes in focal segmental glome(epmc).pdf DeepDyve Pubget Overpricing