A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome.

doi:10.1681/ASN.2014050489

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Community

Back to search

Article

A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome.

Journal of the American Society of Nephrology : JASN - 1 Jun 2015

Sadowski Carolin E, Lovric Svjetlana, Ashraf Shazia, Pabst Werner L, Gee Heon Yung, Kohl Stefan, Engelmann Susanne, Vega-Warner Virginia, Fang Humphrey, Halbritter Jan, Somers Michael J, Tan Weizhen, Shril Shirlee, Fessi Inès, Lifton Richard P, Bockenhauer Detlef, El-Desoky Sherif, Kari Jameela A, Zenker Martin, Kemper Markus J, Mueller Dominik, Fathy Hanan M, Soliman Neveen A, Hildebrandt Friedhelm

Abstract excerpt

Steroid-resistant nephrotic syndrome (SRNS) is the second most frequent cause of ESRD in the first two decades of life. Effective treatment is lacking. First insights into disease mechanisms came from identification of single-gene causes of SRNS. However, the frequency of single-gene causation and its age distribution in large cohorts are unknown. We performed exon sequencing of NPHS2 and WT1 for 1783 unrelated,...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Age of Onset

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cohort Studies

Share to Genes, Wilms Tumor

Share to Incidence

Share to Intracellular Signaling Peptides and Proteins

Share to Nephrotic Syndrome

Share to Real-Time Polymerase Chain Reaction

Share to Risk Assessment

Source

Open in PubMed Open full text

Identifiers

PMID: 25349199
DOI: 10.1681/ASN.2014050489
PMCID: PMC4446877

Genes

NPHS2
PLCE1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome.PMID 25349199Read ↗

Analysis of 24 genes reveals a monogenic cause in 11.1% of cases with steroid-resistant nephrotic syndrome at a single center.Semantic proximity Read ↗

Monogenic Causes Identified in 23.68% of Children with Steroid-Resistant Nephrotic Syndrome: A Single-Centre StudySemantic proximity Read ↗

Steroid Resistant Nephrotic Syndrome-Genetic Consideration.Semantic proximity Read ↗

Rapid Detection of Monogenic Causes of Childhood-Onset Steroid-Resistant Nephrotic SyndromeSemantic proximity Read ↗

Factors predicting the occurrence of disease-causing variants on next-generation sequencing in children with steroid-resistant nephrotic syndrome - implications for resource-constrained settings.Semantic proximity Read ↗

Genetic kidney diseases.Semantic proximity Read ↗

Identification of monogenic variants in steroid-resistant and steroid-sensitive nephrotic syndrome.Semantic proximity Read ↗

A multicenter study investigating the genetic analysis of childhood steroid-resistant nephrotic syndrome: Variants in COL4A5 may not be coincidental.Semantic proximity Read ↗

Genetic testing in steroid-resistant nephrotic syndrome: when and how?Semantic proximity Read ↗

Whole genome sequencing identifies monogenic disease in 56.1% of families with early-onset steroid-resistant nephrotic syndromeSemantic proximity Read ↗

Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management.Semantic proximity Read ↗

Simultaneous sequencing of 24 genes associated with steroid-resistant nephrotic syndrome.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.