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Article

Deletions of both 5(IV) and 6(IV) collagen genes in Alport syndrome and in Alport syndrome associated with smooth muscle tumours

1 Jan 1995

Abstract excerpt

Diffuse oesophageal leiomyomatosis (DL), an inherited smooth muscle proliferation process, has been reported to be associated with Alport syndrome (AS), a familial nephropathy, mainly dominant X-linked inherited, and characterized by ultrastructural changes of the glomerular basement membrane. The COL4A5 gene, encoding the alpha 5 chain of type IV collagen, has been identified as the site of mutations in families...

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PMID: 7711741
DOI: 10.1093/hmg/4.1.99

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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

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Click a neighbor to travelStep 1 · 12 closest

Deletions of both 5(IV) and 6(IV) collagen genes in Alport syndrome and in Alport syndrome associated with smooth muscle tumoursPMID 7711741Read ↗

Deletion of the paired alpha 5(IV) and alpha 6(IV) collagen genes in inherited smooth muscle tumors.Semantic proximity Read ↗

Deletion of the 5'exons of COL4A6 is not needed for the development of diffuse leiomyomatosis in patients with Alport syndrome.Semantic proximity Read ↗

Alport syndrome and diffuse leiomyomatosis. Clinical aspects, pathology, molecular biology and extracellular matrix studies. A synthesis.Semantic proximity Read ↗

Novel COL4A5/COL4A6 deletions and further characterization of the diffuse leiomyomatosis-Alport syndrome (DL-AS) locus define the DL critical regionSemantic proximity Read ↗

Characterization of contiguous gene deletions in COL4A6 and COL4A5 in Alport syndrome-diffuse leiomyomatosisSemantic proximity Read ↗

Comparative distribution of the alpha 1(IV), alpha 5(IV), and alpha 6(IV) collagen chains in normal human adult and fetal tissues and in kidneys from X-linked Alport syndrome patients.Semantic proximity Read ↗

Major COL4A5 gene rearrangements in patients with juvenile type Alport syndrome.Semantic proximity Read ↗

Organization and expression of basement membrane collagen IV genes and their roles in human disorders.Semantic proximity Read ↗

Deletions in the COL4A5 collagen gene in X-linked Alport syndrome. Characterization of the pathological transcripts in nonrenal cells and correlation with disease expression.Semantic proximity Read ↗

Identification of a distinct type IV collagen alpha chain with restricted kidney distribution and assignment of its gene to the locus of X chromosome-linked Alport syndrome.Semantic proximity Read ↗

Alport syndrome and leiomyomatosis: the first deletion extending beyond COL4A6 intron 2Semantic proximity Read ↗

The COL4A5 gene in Japanese Alport syndrome patients: spectrum of mutations of all exons. The Japanese Alport Network.Semantic proximity Read ↗

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