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Article

Unique X-linked familial FSGS with co-segregating heart block disorder is associated with a mutation in the NXF5 gene.

Human molecular genetics - 15 Sept 2013

Esposito Teresa, Lea Rod A, Maher Bridget H, Moses Dianne, Cox Hannah C, Magliocca Sara, Angius Andrea, Nyholt Dale R, Titus Thomas, Kay Troy, Gray Nicholas A, Rastaldi Maria P, Parnham Alan, Gianfrancesco Fernando, Griffiths Lyn R

Abstract excerpt

Focal segmental glomerulosclerosis (FSGS) is the consequence of a disease process that attacks the kidney's filtering system, causing serious scarring. More than half of FSGS patients develop chronic kidney failure within 10 years, ultimately requiring dialysis or renal transplantation. There are...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 23686279
DOI: 10.1093/hmg/ddt215

Genes

ALG13
ACTN4
INF2
NPHS2
TRPC6

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23686279-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Unique X-linked familial FSGS with co-segregating heart block disorder is associated with a mutation in the NXF5 gene.PMID 23686279Read ↗

Mutation in XPO5 causes adult-onset autosomal dominant familial focal segmental glomerulosclerosis.Semantic proximity Read ↗

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

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