Mutational analysis in podocin-associated hereditary nephrotic syndrome in Polish patients: founder effect in the Kashubian population.

doi:10.1007/s13353-013-0147-z

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

Mutational analysis in podocin-associated hereditary nephrotic syndrome in Polish patients: founder effect in the Kashubian population.

Journal of applied genetics - 1 Aug 2013

Lipska Beata S, Balasz-Chmielewska Irena, Morzuch Lucyna, Wasielewski Kacper, Vetter Dominika, Borzecka Halina, Drozdz Dorota, Firszt-Adamczyk Agnieszka, Gacka Ewa, Jarmolinski Tomasz, Ksiazek Joanna, Kuzma-Mroczkowska Elzbieta, Litwin Mieczyslaw, Medynska Anna, Silska Magdalena, Szczepanska Maria, Tkaczyk Marcin, Wasilewska Anna, Schaefer Franz, Zurowska Aleksandra, Limon Janusz

Abstract excerpt

Hereditary nephrotic syndrome is caused by mutations in a number of different genes, the most common being NPHS2. The aim of the study was to identify the spectrum of NPHS2 mutations in Polish patients with the disease. A total of 141 children with steroid-resistant nephrotic syndrome (SRNS) were enrolled in the study. Mutational analysis included the entire coding sequence and intron boundaries of the NPHS2...

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 Founder Effect

Share to Geography

Share to Homozygote

Share to Intracellular Signaling Peptides and Proteins

Share to Nephrotic Syndrome

Share to Poland

Share to Polymorphism, Restriction Fragment Length

Source

Open in PubMed Open full text

Identifiers

PMID: 23645318
DOI: 10.1007/s13353-013-0147-z
PMCID: PMC3721000

Genes

NPHS2

Variants

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

Mutational analysis in podocin-associated hereditary nephrotic syndrome in Polish patients: founder effect in the Kashubian population.PMID 23645318Read ↗

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

Genetic mutation in Egyptian children with steroid-resistant nephrotic syndrome.Semantic proximity Read ↗

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

NPHS2 (podicin) mutations in Turkish children with idiopathic 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 ↗

[NPHS2 Mutation analysis study in children with steroid-resistant nephrotic syndrome].Semantic proximity Read ↗

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

Analysis of NPHS2 mutations in Turkish steroid-resistant nephrotic syndrome patients.Semantic proximity Read ↗

Report of novel genetic variation in NPHS2 gene associated with idiopathic nephrotic syndrome in South Indian children.Semantic proximity Read ↗

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

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

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