Discover Community Create You

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

Article

A novel NPHS2 mutation (c.865A > G) identified in a Chinese family with steroid-resistant nephrotic syndrome alters subcellular localization of nephrin.

Genes & genomics - 1 May 2022

Wu Na, Zhu Yingchuan, Jiang Wenhao, Song Yue, Yin Lan, Lu Yilu, Tao Dachang, Liu Yunqiang, Ma Yongxin

Abstract excerpt

BACKGROUND: NPHS2 is the causative gene of nephrotic syndrome type 2 (MIM 600995) which often clinically manifests as steroid-resistant nephrotic syndrome (SRNS). The NPHS2 gene encodes a slit diaphragm (SD) associated protein podocin. OBJECTIVE: This study reported a novel disease-causing mutation of NPHS2 in a Chinese family with SRNS. We also investigated the pathogenic mechanism of the variants in this...

Read the complete abstract on PubMed

Topics

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

Share to China
Share to DNA Mutational Analysis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Intracellular Signaling Peptides and Proteins

Share to Membrane Proteins

Share to Mutation

Share to Nephrotic Syndrome

Share to Steroids

Source

Identifiers

PMID: 35099763
DOI: 10.1007/s13258-022-01220-5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel NPHS2 mutation (c.865A > G) identified in a Chinese family with steroid-resistant nephrotic syndrome alters subcellular localization of nephrin.PMID 35099763Read ↗

A novel mutation of NPHS2 identified in a Chinese family.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 ↗

[A novel mutation of NPHS2 identified in a Chinese family with steroid-resistant nephrotic syndrome].Semantic proximity Read ↗

Molecular basis of 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 ↗

NPHS2 Mutations: A Closer Look to Latin American Countries.Semantic proximity Read ↗

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

Altered expression of Crb2 in podocytes expands a variation of CRB2 mutations in steroid-resistant nephrotic syndrome.Semantic proximity Read ↗

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

NPHS2 (Podocin) mutations in nephrotic syndrome. Clinical spectrum and fine mechanisms.Semantic proximity Read ↗

Nephrin mutations can cause childhood-onset steroid-resistant nephrotic syndrome.Semantic proximity Read ↗

NPHS2 gene in steroid-resistant nephrotic syndrome: prevalence, clinical course, and mutational spectrum in South-West Iranian children.Semantic proximity Read ↗

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