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Article

mRNA sequencing of a novel NPHS2 intronic mutation in a child with focal and segmental glomerulosclerosis.

Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia - 1 Jul 2014

Benetti Elisa, Caridi Gianluca, Centi Sonia, Vella Manuela Della, Ghiggeri Gian Marco, Artifoni Lina, Murer Luisa

Abstract excerpt

The NPHS2 gene encodes podocin, a membrane protein that acts as the structural scaffold in podocyte foot processes. NPHS2 mutations are associated with steroid-resistant nephrotic syndrome (SRNS), with the pathologic variant being focal and segmental glomerulosclerosis (FSGS), an emerging cause of end-stage renal disease in children. We describe a novel NPHS2 sequence variant in a girl with SRNS. Onset occurred...

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Share to Glomerulosclerosis, Focal Segmental

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 24969201
DOI: 10.4103/1319-2442.135180

Genes

NPHS2

Provenance

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Related research

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mRNA sequencing of a novel NPHS2 intronic mutation in a child with focal and segmental glomerulosclerosis.PMID 24969201Read ↗

NPHS2 mutations in steroid-resistant nephrotic syndrome: a mutation update and the associated phenotypic spectrum.Semantic proximity Read ↗

Novel mutations in NPHS2 detected in both familial and sporadic steroid-resistant nephrotic syndrome.Semantic proximity Read ↗

NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome.Semantic proximity Read ↗

Recessive NPHS2 (Podocin) mutations are rare in adult-onset idiopathic focal segmental glomerulosclerosis.Semantic proximity Read ↗

NPHS2 gene, nephrotic syndrome and focal segmental glomerulosclerosis: a HuGE review.Semantic proximity Read ↗

Novel NPHS2 variant in patients with familial steroid-resistant nephrotic syndrome with early onset, slow progression and dominant inheritance pattern.Semantic proximity Read ↗

Prevalence, genetics, and clinical features of patients carrying podocin mutations in steroid-resistant nonfamilial focal segmental glomerulosclerosis.Semantic proximity Read ↗

Retrospective mutational analysis of NPHS1, NPHS2, WT1 and LAMB2 in children with steroid-resistant focal segmental glomerulosclerosis - a single-centre experience.Semantic proximity Read ↗

NPHS2 variation in focal and segmental glomerulosclerosis.Semantic proximity Read ↗

Clinical value of NPHS2 analysis in early- and adult-onset steroid-resistant nephrotic syndrome.Semantic proximity Read ↗

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