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Article

A new amyloidosis caused by fibrillar aggregates of mutated corneodesmosin.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology - 1 Sept 2010

Caubet Cécile, Bousset Luc, Clemmensen Ole, Sourigues Yannick, Bygum Anette, Chavanas Stéphane, Coudane Fanny, Hsu Chiung-Yueh, Betz Regina C, Melki Ronald, Simon Michel, Serre Guy

Abstract excerpt

Heterozygous nonsense mutations in the CDSN gene encoding corneodesmosin (CDSN), an adhesive protein expressed in cornified epithelia and hair follicles, cause hypotrichosis simplex of the scalp (HSS), a nonsyndromic form of alopecia. Truncated mutants of CDSN ((mut)CDSN), which bear the N-termin...

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Identifiers

PMID: 20448140
DOI: 10.1096/fj.10-155622

Genes

CDSN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20448140-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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