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

NPHS Mutations in Pediatric Patients with Congenital and Steroid-Resistant Nephrotic Syndrome.

International journal of molecular sciences - 15 Nov 2024

Lee Jun Xin, Tan Yan Jin, Ismail Noor Akmal Shareela

Abstract excerpt

NPHS1 and NPHS2 are kidney gene components that encode for nephrin and podocin, respectively. They play a role in the progression of congenital (CNS) and steroid-resistant (SRNS) nephrotic syndrome. Hence, this study aimed to determine the prevalence and renal outcomes of NPHS mutations among pediatric patients with CNS and SRNS. We also aimed to identify potential predictors of NPHS mutations in this patient...

Topics

Join the communities discussing this publication.

Adolescent
Child
Child, Preschool
Infant
Infant, Newborn
Intracellular Signaling Peptides and Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Membrane Proteins

Nephrotic Syndrome

Source

Open in PubMed Open full text

Identifiers

PMID: 39596340
DOI: 10.3390/ijms252212275
PMCID: PMC11594456

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

NPHS Mutations in Pediatric Patients with Congenital and Steroid-Resistant Nephrotic Syndrome.PMID 39596340Read ↗

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

NPHS2 mutations in children with steroid-resistant nephrotic syndrome.Semantic proximity Read ↗

Genetic analysis and outcomes of Omani children with steroid-resistant nephrotic syndrome.Semantic proximity Read ↗

Clinical utility of genetic testing in children and adults with steroid-resistant nephrotic syndrome.Semantic proximity Read ↗

Genetic screening in children with challenging nephrotic syndrome.Semantic proximity Read ↗

Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome.Semantic proximity Read ↗

Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS).Semantic proximity Read ↗

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

Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome.Semantic proximity Read ↗

NPHS2 gene mutations in azerbaijani children with steroid-resistant nephrotic syndrome.Semantic proximity Read ↗

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

Spectrum of steroid-resistant and congenital nephrotic syndrome in children: the PodoNet registry cohort.Semantic proximity Read ↗

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