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

CUBN gene mutations may cause focal segmental glomerulosclerosis (FSGS) in children.

BMC nephrology - 3 Jan 2022

Yang Jing, Xu Yongli, Deng Linxia, Zhou Luowen, Qiu Liru, Zhang Yu, Zhou Jianhua

Abstract excerpt

BACKGROUND: Imerslund-Gräsbeck Syndrome (IGS) is mainly caused by CUBN gene biallelic mutations. Proteinuria accompanies IGS specific symptoms in about half of the patients, isolated proteinuria is rarely reported. Here we present 3 patients with isolated proteinuria and focal segmental glomerulosclerosis (FSGS) caused by CUBN gene biallelic pathogenic variants. METHOD: Whole exome sequencing was performed on...

Read the complete abstract on PubMed

Topics

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

Share to beta 2-Microglobulin
Share to Child
Share to Glomerulosclerosis, Focal Segmental

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Heterozygote

Share to Homozygote

Share to Proteinuria

Share to Receptors, Cell Surface

Share to Whole Genome Sequencing

Source

Open in PubMed Open full text

Identifiers

PMID: 34979989
DOI: 10.1186/s12882-021-02654-x
PMCID: PMC8725476

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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

CUBN gene mutations may cause focal segmental glomerulosclerosis (FSGS) in children.PMID 34979989Read ↗

CUBN Gene Mutations May Cause Focal Segmental Glomerulosclerosis (FSGS) in ChildrenSemantic proximity Read ↗

Contribution of Recessive Ciliopathy Genes in a Highly Consanguineous Adult Cohort with Biopsy-Proven Focal Segmental GlomerulosclerosisSemantic proximity Read ↗

Exome Sequencing Reveals Cubilin Mutation as a Single-Gene Cause of ProteinuriaSemantic proximity Read ↗

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

Detailed investigations of proximal tubular function in Imerslund-Gräsbeck syndromeSemantic proximity Read ↗

A Review of Focal Segmental Glomerulosclerosis Classification With a Focus on Genetic AssociationsSemantic proximity Read ↗

FAT1 biallelic truncating mutation causes a non-syndromic proteinuria in a child.Semantic proximity Read ↗

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

“Cytopenias and proteinuria as key diagnostic features of Imerslund-Gräsbeck Syndrome: a case series of four Argentine patients”Semantic proximity Read ↗

A child with genetic FN1 mutation in the absence of classic glomerulopathy with fibronectin deposits(GFND) findings on biopsy.Semantic proximity Read ↗

Clinical and pathological phenotype of genetic causes of focal segmental glomerulosclerosis in adultsSemantic proximity Read ↗

Deciphering the Genetic Basis of Focal Segmental Glomerulosclerosis Using Next-Generation SequencingSemantic proximity Read ↗

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