Source:http://linkedlifedata.com/resource/pubmed/id/15817495
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
5 Pt 2
|
| pubmed:dateCreated |
2005-4-29
|
| 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.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
May
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| pubmed:issn |
0031-3998
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| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
57
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
54R-61R
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| pubmed:dateRevised |
2009-11-19
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| pubmed:meshHeading |
pubmed-meshheading:15817495-Adolescent,
pubmed-meshheading:15817495-Adult,
pubmed-meshheading:15817495-Aged,
pubmed-meshheading:15817495-Animals,
pubmed-meshheading:15817495-Child,
pubmed-meshheading:15817495-Child, Preschool,
pubmed-meshheading:15817495-Endoplasmic Reticulum,
pubmed-meshheading:15817495-Exons,
pubmed-meshheading:15817495-Genetic Testing,
pubmed-meshheading:15817495-Heterozygote,
pubmed-meshheading:15817495-Homozygote,
pubmed-meshheading:15817495-Humans,
pubmed-meshheading:15817495-Infant,
pubmed-meshheading:15817495-Intracellular Signaling Peptides and Proteins,
pubmed-meshheading:15817495-Kidney,
pubmed-meshheading:15817495-Kidney Transplantation,
pubmed-meshheading:15817495-Membrane Proteins,
pubmed-meshheading:15817495-Mice,
pubmed-meshheading:15817495-Middle Aged,
pubmed-meshheading:15817495-Mutation,
pubmed-meshheading:15817495-Nephrotic Syndrome,
pubmed-meshheading:15817495-Phenotype,
pubmed-meshheading:15817495-Polymorphism, Genetic,
pubmed-meshheading:15817495-Promoter Regions, Genetic,
pubmed-meshheading:15817495-Protein Structure, Tertiary,
pubmed-meshheading:15817495-Treatment Outcome
|
| pubmed:year |
2005
|
| pubmed:articleTitle |
NPHS2 (Podocin) mutations in nephrotic syndrome. Clinical spectrum and fine mechanisms.
|
| pubmed:affiliation |
Laboratory on Pathophysiology of Uremia, Istituto Giannina Gaslini, Genova, Italy.
|
| pubmed:publicationType |
Journal Article,
Review,
Research Support, Non-U.S. Gov't
|