pubmed-article:15817495 | rdf:type | pubmed:Citation | lld:pubmed |
pubmed-article:15817495 | lifeskim:mentions | umls-concept:C0027726 | lld:lifeskim |
pubmed-article:15817495 | lifeskim:mentions | umls-concept:C0026882 | lld:lifeskim |
pubmed-article:15817495 | lifeskim:mentions | umls-concept:C1421972 | lld:lifeskim |
pubmed-article:15817495 | lifeskim:mentions | umls-concept:C0913844 | lld:lifeskim |
pubmed-article:15817495 | lifeskim:mentions | umls-concept:C0205210 | lld:lifeskim |
pubmed-article:15817495 | lifeskim:mentions | umls-concept:C2827424 | lld:lifeskim |
pubmed-article:15817495 | lifeskim:mentions | umls-concept:C0205232 | lld:lifeskim |
pubmed-article:15817495 | lifeskim:mentions | umls-concept:C0441712 | lld:lifeskim |
pubmed-article:15817495 | pubmed:issue | 5 Pt 2 | lld:pubmed |
pubmed-article:15817495 | pubmed:dateCreated | 2005-4-29 | lld:pubmed |
pubmed-article:15817495 | pubmed:abstractText | Nephrotic syndrome (NS) is the most frequent cause of proteinuria in children and is emerging as a leading cause of uremia. Molecular studies in families with recessive NS have led to the discovery of specialized molecules endowed in podocytes that play a role in proteinuria. This review focalizes the key position of podocin (NPHS2 gene) in this rapidly evolving field and furnishes a compendium to those involved in clinics and genetics of NS. Screening for NPHS2 mutations have been done in sporadic NS and familial cases with recessive inheritance, documenting a mutation detection rate of 45-55% in families and 8-20% in sporadic NS according to the different groups and considering all the clinical phenotypes. Almost 50 NPHS2 mutations have been reported and variants and/or non silent polymorphisms potentially involved in proteinuria were recognized. Personalized data on clinical aspects related to responsiveness to drugs, evolution to end stage renal failure and post-transplant outcome are reported. Functional studies and cell sorting experiments demonstrated retention in the endoplasmic reticulum of most mutants involving the stomatin domain. Pull-down experiments with the common R229Q polymorphism demonstrated an altered interaction with nephrin that affects the stability of the functional unit. Overall, data are here presented that underscore a major role of inherited defects of NPHS2 in NS in children (including a relevant impact in sporadic cases) and give the functional rationale for the association. A practical compendium is also given to clinicians involved in the management of NS that should modify the classic therapeutic approach. | lld:pubmed |
pubmed-article:15817495 | pubmed:language | eng | lld:pubmed |
pubmed-article:15817495 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:15817495 | pubmed:citationSubset | IM | lld:pubmed |
pubmed-article:15817495 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:15817495 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:15817495 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:15817495 | pubmed:status | MEDLINE | lld:pubmed |
pubmed-article:15817495 | pubmed:month | May | lld:pubmed |
pubmed-article:15817495 | pubmed:issn | 0031-3998 | lld:pubmed |
pubmed-article:15817495 | pubmed:author | pubmed-author:GhiggeriGian... | lld:pubmed |
pubmed-article:15817495 | pubmed:author | pubmed-author:PerfumoFrance... | lld:pubmed |
pubmed-article:15817495 | pubmed:author | pubmed-author:CaridiGianluc... | lld:pubmed |
pubmed-article:15817495 | pubmed:issnType | Print | lld:pubmed |
pubmed-article:15817495 | pubmed:volume | 57 | lld:pubmed |
pubmed-article:15817495 | pubmed:owner | NLM | lld:pubmed |
pubmed-article:15817495 | pubmed:authorsComplete | Y | lld:pubmed |
pubmed-article:15817495 | pubmed:pagination | 54R-61R | lld:pubmed |
pubmed-article:15817495 | pubmed:dateRevised | 2009-11-19 | lld:pubmed |
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pubmed-article:15817495 | pubmed:year | 2005 | lld:pubmed |
pubmed-article:15817495 | pubmed:articleTitle | NPHS2 (Podocin) mutations in nephrotic syndrome. Clinical spectrum and fine mechanisms. | lld:pubmed |
pubmed-article:15817495 | pubmed:affiliation | Laboratory on Pathophysiology of Uremia, Istituto Giannina Gaslini, Genova, Italy. | lld:pubmed |
pubmed-article:15817495 | pubmed:publicationType | Journal Article | lld:pubmed |
pubmed-article:15817495 | pubmed:publicationType | Review | lld:pubmed |
pubmed-article:15817495 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
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