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 case of proliferative glomerulosclerosis with compound heterozygous TTC21B mutations.

Clinica chimica acta; international journal of clinical chemistry - 1 Apr 2022

Liu Li, Li Furong, Zou Huan, He Wei, Zhang Bo, Zhang Jun

Abstract excerpt

Mesangial proliferative glomerulonephritis (MsPGN) is the most common clinicopathologic feature of the primary glomerulonephritis. The hereditary susceptibility to MsPGN is rather complex. In this report, a Chinese case of proliferative glomerulosclerosis was recruited. Renal biopsy revealed extensive glomerulosclerosis with mesangial hypertrophy, and tubular atrophy and dilatation. Whole exome sequencing (WES)...

Read the complete abstract on PubMed

Topics

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

Share to Amyloidosis: Diagnosis, Treatment, Outcomes
Share to Asian People

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

Share to Exome Sequencing

Share to Genetic Predisposition to Disease

Share to Kidney Diseases

Share to Microtubule-Associated Proteins

Share to Mutation

Share to Renal Diseases and Glomerulopathies

Source

Identifiers

PMID: 35151619
DOI: 10.1016/j.cca.2022.01.020

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.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A case of proliferative glomerulosclerosis with compound heterozygous TTC21B mutations.PMID 35151619Read ↗

A case report of CRB2 mutation identified in a Chinese boy with focal segmental glomerulosclerosis.Semantic proximity Read ↗

A Compound Heterozygous Mutation in the Ciliary Gene TTC21B Causes Nephronophthisis Type 12Semantic proximity Read ↗

Contribution of the TTC21B gene to glomerular and cystic kidney diseases.Semantic proximity Read ↗

Mutations in TTC21B cause different phenotypes in two childhood cases in China.Semantic proximity Read ↗

Comprehensive genetic diagnosis of Japanese patients with severe proteinuria.Semantic proximity Read ↗

Two novel mutations in TTC21B gene, c.497del and c.2323-3T>A, identified in a Chinese patientSemantic proximity Read ↗

Pathogenic variant detection rate by whole exome sequencing in Thai patients with biopsy-proven focal segmental glomerulosclerosis.Semantic proximity Read ↗

Analysis of the genes responsible for steroid-resistant nephrotic syndrome and/or focal segmental glomerulosclerosis in Japanese patients by whole-exome sequencing analysis.Semantic proximity Read ↗

A Simple Tool to Predict Genetic Focal Segmental GlomerulosclerosisSemantic proximity Read ↗

Screening of ACTN4 and TRPC6 mutations in a Chinese cohort of patients with adult-onset familial focal segmental glomerulosclerosis.Semantic proximity Read ↗

Collagenofibrotic Glomerulopathy Associated With Homozygous STAB2 and Heterozygous STAB1 Variants: A Case Report.Semantic proximity Read ↗

A novel heterozygous variant of the COL4A4 gene in a Chinese family with hematuria and proteinuria leads to focal segmental glomerulosclerosis and chronic kidney disease.Semantic proximity Read ↗

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