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Article

First nicastrin mutation in PASH (pyoderma gangrenosum, acne and suppurative hidradenitis) syndrome.

The British journal of dermatology - 1 Aug 2015

Duchatelet S, Miskinyte S, Join-Lambert O, Ungeheuer M-N, Francès C, Nassif A, Hovnanian A

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 25601011
DOI: 10.1111/bjd.13668

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First nicastrin mutation in PASH (pyoderma gangrenosum, acne and suppurative hidradenitis) syndrome.PMID 25601011Read ↗

A novel nicastrin mutation in a three-generation Dutch family with hidradenitis suppurativa: a search for functional significance.Semantic proximity Read ↗

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Rare missense variants in the SH3 domain of <i>PSTPIP1</i> are associated with hidradenitis suppurativaSemantic proximity Read ↗

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Two novel mutations of the nicastrin gene in Chinese patients with acne inversaSemantic proximity Read ↗

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Increased expression profile of NCSTN, Notch and PI3K/AKT3 in hidradenitis suppurativaSemantic proximity Read ↗

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Confirmation by Exome Sequencing of the Pathogenic Role of NCSTN Mutations in Acne Inversa (Hidradenitis Suppurativa)Semantic proximity Read ↗

A novel mutation in K6b in pachyonychia congenita type 2.Semantic proximity Read ↗

First PSENEN mutation in PASH syndrome.Semantic proximity Read ↗

A novel NCSTN missense mutation in the signal peptide domain causes hidradenitis suppurativa, which has features characteristic of an autoinflammatory keratinization diseaseSemantic proximity Read ↗

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