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

The mutation-dependent pathogenicity ofNPHS2p.R229Q: A guide for clinical assessment

27 Sept 2018

Abstract excerpt

NPHS2, encoding podocin, is the major gene implicated in steroid-resistant nephrotic syndrome. Its c.686G>A, p.R229Q variant is the first human variant with a mutation-dependent pathogenicity; it is only pathogenic when trans-associated to specific mutations. Secondary to its high allele frequency in the European, South Asian, African, and Latino populations, its benign trans-associations can be accidentally...

Read the complete abstract on PubMed

Topics

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

Share to Chronic Lymphocytic Leukemia Research
Share to Genetic factors in colorectal cancer
Share to Renal Diseases and Glomerulopathies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 30260545
DOI: 10.1002/humu.23660

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The mutation-dependent pathogenicity ofNPHS2p.R229Q: A guide for clinical assessmentPMID 30260545Read ↗

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

The p.R229Q variant of the NPHS2 (podocin) gene in focal segmental glomerulosclerosis and steroid-resistant nephrotic syndrome: a meta-analysis.Semantic proximity Read ↗

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

Clinical and epidemiological assessment of steroid-resistant nephrotic syndrome associated with the NPHS2 R229Q variant.Semantic proximity Read ↗

Nephrotic Syndrome With Mutations in NPHS2: The Role of R229Q and Implications for Genetic CounselingSemantic proximity Read ↗

NPHS2 homozygous p.R229Q variant: potential modifier instead of causal effect in focal segmental glomerulosclerosis.Semantic proximity Read ↗

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

Clinical value of NPHS2 analysis in early- and adult-onset 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 ↗

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

Evaluating Mendelian nephrotic syndrome genes for evidence of risk alleles or oligogenicity that explain heritabilitySemantic proximity Read ↗

Nucleotide variations in the NPHS2 gene in Greek children with steroid-resistant nephrotic syndrome.Semantic proximity Read ↗

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