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Article

A Case Report of Inversa Acne and Evaluation for Mutations in the NCSTN, PSENEN, and PSEN1 Genes.

Chinese medical journal - 20 Jul 2016

Guo Bi-Rong, Li Cong-Sheng, Zhu Qi-Ming, Xu Kang, Pan Wei, Jiang Peng

Abstract excerpt

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Share to Amyloid Precursor Protein Secretases
Share to PSEN1 gene
Share to Hidradenitis Suppurativa
Share to Membrane Glycoproteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 27411468
DOI: 10.4103/0366-6999.185853
PMCID: PMC4960970

Genes

NCSTN
PSEN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

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Research trail→

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A Case Report of Inversa Acne and Evaluation for Mutations in the NCSTN, PSENEN, and PSEN1 Genes.PMID 27411468Read ↗

Characterization of a Novel Mutation in the NCSTN Gene in a Large Chinese Family with Acne Inversa.Semantic proximity Read ↗

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

PSENEN Mutation Carriers with Co-manifestation of Acne Inversa (AI) and Dowling-Degos Disease (DDD): Is AI or DDD the Subphenotype?Semantic proximity Read ↗

Novel Mutations in PSENEN Gene in Two Chinese Acne Inversa Families Manifested as Familial Multiple Comedones and Dowling-Degos Disease.Semantic proximity Read ↗

Mutations in γ-secretase subunit-encoding PSENEN gene alone may not be sufficient for the development of acne inversa.Semantic proximity Read ↗

Two novel mutations of the NCSTN gene in Chinese familial acne inverseSemantic proximity Read ↗

Syringocystadenoma papilliferum in a patient with focal dermal hypoplasia due to a novel PORCN mutation.Semantic proximity Read ↗

Expanding the spectrum of γ‐secretase gene mutation‐associated phenotypes: two novel mutations segregating with familial hidradenitis suppurativa (acne inversa) and acne conglobataSemantic proximity Read ↗

Analysis of hidradenitis suppurativa–linked mutations in four genes and the effects of PSEN1-P242LfsX11 on cytokine and chemokine expression in macrophagesSemantic proximity Read ↗

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

Gamma-secretase gene mutations in familial acne inversa.Semantic proximity Read ↗

Mutations in γ-secretase subunit-encoding PSENEN underlie Dowling-Degos disease associated with acne inversa.Semantic proximity Read ↗

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