Some, but not all, glycine substitution mutations in COL7A1 result in intracellular accumulation of collagen VII, loss of anchoring fibrils, and skin blistering.

doi:10.1074/jbc.273.30.19228

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Article

Some, but not all, glycine substitution mutations in COL7A1 result in intracellular accumulation of collagen VII, loss of anchoring fibrils, and skin blistering.

The Journal of biological chemistry - 24 Jul 1998

Hammami-Hauasli N, Schumann H, Raghunath M, Kilgus O, Lüthi U, Luger T, Bruckner-Tuderman L

Abstract excerpt

COL7A1 gene mutations cause dystrophic epidermolysis bullosa, a skin blistering disorder. The phenotypes result from defects of collagen VII, the major component of the anchoring fibrils at the dermo-epidermal junction; however, the molecular mechanisms underlying the phenotypes remain elusive. W...

Topics

Adult
Amino Acid Sequence
Amino Acid Substitution
Blister
Child
Collagen
Epidermolysis Bullosa Dystrophica
Exons
Female
Genotype
Glycine
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Microscopy, Immunoelectron

Molecular Sequence Data

Mutation

Pedigree

Phenotype

Source

Open in PubMed

Identifiers

PMID: 9668111
DOI: 10.1074/jbc.273.30.19228

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9668111-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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Some, but not all, glycine substitution mutations in COL7A1 result in intracellular accumulation of collagen VII, loss of anchoring fibrils, and skin blistering.PMID 9668111Read ↗

Glycine substitutions in the triple-helical region of type VII collagen result in a spectrum of dystrophic epidermolysis bullosa phenotypes and patterns of inheritance.Semantic proximity Read ↗

Characterization of 18 new mutations in COL7A1 in recessive dystrophic epidermolysis bullosa provides evidence for distinct molecular mechanisms underlying defective anchoring fibril formation.Semantic proximity Read ↗

Identical glycine substitution mutations in type VII collagen may underlie both dominant and recessive forms of dystrophic epidermolysis bullosa.Semantic proximity Read ↗

A recurrent 'hot spot' glycine substitution mutation, G2043R in COL7A1, induces dominant dystrophic epidermolysis bullosa associated with intracytoplasmic accumulation of pro-collagen VII.Semantic proximity Read ↗

Characterization of molecular mechanisms underlying mutations in dystrophic epidermolysis bullosa using site-directed mutagenesis.Semantic proximity Read ↗

Biology of anchoring fibrils: lessons from dystrophic epidermolysis bullosa.Semantic proximity Read ↗

Glycine substitution mutations by different amino acids at the same codon in COL7A1 cause different modes of dystrophic epidermolysis bullosa inheritance.Semantic proximity Read ↗

Single glycine deletion in COL7A1 acting as glycine substitution in dystrophic epidermolysis bullosa.Semantic proximity Read ↗

Single amino acid substitutions in procollagen VII affect early stages of assembly of anchoring fibrils.Semantic proximity Read ↗

In this issue: glycine substitution mutations in the COL7A1 gene: implications for inheritance of dystrophic epidermolysis bullosa - dominant vs. recessive.Semantic proximity Read ↗

Molecular basis of dystrophic epidermolysis bullosa: mutations in the type VII collagen gene (COL7A1).Semantic proximity Read ↗

Collagen VII plays a dual role in wound healingSemantic proximity Read ↗

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