Does NPHS1 polymorphism modulate P118l mutation in NPHS2?

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dc.contributor.authorDincel N.
dc.contributor.authorMir S.
dc.contributor.authorBerdeli A.
dc.contributor.authorBulut I.K.
dc.contributor.authorSozeri B.
dc.date.accessioned2019-10-26T21:38:01Z
dc.date.available2019-10-26T21:38:01Z
dc.date.issued2013
dc.departmentEge Üniversitesien_US
dc.description.abstractNephrotic syndrome (NS) in the first year of life is uncommon and makes up a heterogeneous group of disorders. Subsequent studies have further defined the phenotype associated with mutations in the NPHS2 gene, revealing that patients usually develop NS from birth to 6 years of age. We report a child aged 4 months with steroid-resistant NS who had polymorphism of NPHS1 (E117K) and mutation of NPHS2 (P118L). Our patient was carrying a polymorphic NPHS1 mutation, while phenotypically she had a poor prognostic NPHS2 mutation. However, it must be questioned whether this polymorphic change (E117K) alters the signaling pathways of the podocytes and leads to P118L mutation, thus making it behave differently. Perhaps, this would be called a genetic modifier in future.en_US
dc.identifier.doi10.4103/1319-2442.121300en_US
dc.identifier.endpage1213en_US
dc.identifier.issn1319-2442
dc.identifier.issue6en_US
dc.identifier.pmid24231487en_US
dc.identifier.scopusqualityQ3en_US
dc.identifier.startpage1210en_US
dc.identifier.urihttps://doi.org/10.4103/1319-2442.121300
dc.identifier.urihttps://hdl.handle.net/11454/18097
dc.identifier.volume24en_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.relation.ispartofSaudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabiaen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.titleDoes NPHS1 polymorphism modulate P118l mutation in NPHS2?en_US
dc.typeArticleen_US

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