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 podocin V260E mutation predicts steroid resistant nephrotic syndrome in black South African children with focal segmental glomerulosclerosis.

Communications biology - 1 Jan 2019

Govender Melanie A, Fabian June, Gottlich Errol, Levy Cecil, Moonsamy Glenda, Maher Heather, Winkler Cheryl A, Ramsay Michèle

Abstract excerpt

In black African children with focal segmental glomerulosclerosis (FSGS) there are high rates of steroid resistance. The aim was to determine genetic associations with apolipoprotein L1 (APOL1) renal risk variants and podocin (NPHS2) variants in 30 unrelated black South African children with FSGS. Three APOL1 variants were genotyped and the exons of the NPHS2 gene sequenced in the cases and controls. APOL1 risk...

Read the complete abstract on PubMed

Topics

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

Share to Amino Acid Substitution
Share to Apolipoprotein L1

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Black People

Share to Drug Resistance

Share to Glomerulosclerosis, Focal Segmental

Share to Intracellular Signaling Peptides and Proteins

Share to Nephrotic Syndrome

Share to Steroids

Source

Open in PubMed Open full text

Identifiers

PMID: 31754646
DOI: 10.1038/s42003-019-0658-1
PMCID: PMC6858321

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The podocin V260E mutation predicts steroid resistant nephrotic syndrome in black South African children with focal segmental glomerulosclerosis.PMID 31754646Read ↗

Causal and putative pathogenic mutations identified in 39% of children with primary steroid-resistant nephrotic syndrome in South Africa.Semantic proximity Read ↗

Hiding in plain sight: genetics of childhood steroid-resistant nephrotic syndrome in Sub-Saharan Africa.Semantic proximity Read ↗

Causal and Putative Pathogenic Mutations Identified in 38.6% of Children with Primary SRNS in South AfricaSemantic proximity Read ↗

NPHS2 variation in focal and segmental glomerulosclerosis.Semantic proximity Read ↗

NPHS2 gene, nephrotic syndrome and focal segmental glomerulosclerosis: a HuGE review.Semantic proximity Read ↗

Genetics of Childhood Steroid Sensitive Nephrotic Syndrome: An UpdateSemantic proximity Read ↗

HLA-DQA1 and APOL1 as Risk Loci for Childhood-Onset Steroid-Sensitive and Steroid-Resistant Nephrotic Syndrome.Semantic proximity Read ↗

Familial focal segmental glomerulosclerosis (FSGS) in a Nigerian family and exclusion of mutations in NPHS2,WT1 and APOL1.Semantic proximity Read ↗

APOL1 risk genotype in European steroid-resistant nephrotic syndrome and/or focal segmental glomerulosclerosis patients of different African ancestries.Semantic proximity Read ↗

Genetic risk of APOL1 and kidney disease in children and young adults of African ancestry.Semantic proximity Read ↗

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

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

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