两名患有道林-迪戈斯病的姐妹中POGLUT1基因出现新的无义突变。 - Suppr

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A new nonsense mutation in the POGLUT1 gene in two sisters with Dowling-Degos disease.

作者信息

Duchatelet S, Clerc H, Machet L, Gaboriaud P, Miskinyte S, Kervarrec T, Hovnanian A

机构信息

INSERM, UMR 1163, Imagine Institute, Université Paris Descartes - Sorbonne Paris Cité, Paris, France.

Department of Dermatology, CHRU de Tours, Tours, France.

出版信息

J Eur Acad Dermatol Venereol. 2018 Dec;32(12):e440-e442. doi: 10.1111/jdv.14958. Epub 2018 Jul 31.

DOI:10.1111/jdv.14958

PMID:29569780

Abstract

摘要

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相似文献

A new nonsense mutation in the POGLUT1 gene in two sisters with Dowling-Degos disease.

J Eur Acad Dermatol Venereol. 2018 Dec;32(12):e440-e442. doi: 10.1111/jdv.14958. Epub 2018 Jul 31.

Vesicular variant of Dowling-Degos disease.

Br J Dermatol. 2018 Sep;179(3):795-796. doi: 10.1111/bjd.16906. Epub 2018 Jul 19.

Mutations in POGLUT1 in Galli-Galli/Dowling-Degos disease.

Br J Dermatol. 2017 Jan;176(1):270-274. doi: 10.1111/bjd.14914. Epub 2016 Sep 24.

A Japanese Case of Galli-Galli Disease due to a Previously Unreported POGLUT1 Mutation.

Acta Derm Venereol. 2019 Apr 1;99(4):458-459. doi: 10.2340/00015555-3119.

Dowling-Degos disease associated with hidradenitis suppurativa: a case report.

Actas Dermosifiliogr. 2015 May;106(4):337-8. doi: 10.1016/j.ad.2014.09.010. Epub 2014 Dec 18.

[Dowling-Degos syndrome].

Med Clin (Barc). 2015 Jul 6;145(1):e1. doi: 10.1016/j.medcli.2014.12.005. Epub 2015 Feb 3.

Dowling-Degos disease with mutations in POFUT1 is clinicopathologically distinct from reticulate acropigmentation of Kitamura.

Br J Dermatol. 2015 Aug;173(2):584-6. doi: 10.1111/bjd.13702. Epub 2015 Jun 29.

[Mutations in presenilin in Dowling-Degos disease: Association with follicular occlusion disorder and the notch-signalling pathway].

Ann Dermatol Venereol. 2017 Dec;144(12):825-826. doi: 10.1016/j.annder.2017.09.172. Epub 2017 Oct 31.

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J Invest Dermatol. 2019 Apr;139(4):960-964. doi: 10.1016/j.jid.2018.10.030. Epub 2018 Nov 9.

Mast cell activation in Dowling-Degos disease.

Br J Dermatol. 2019 Dec;181(6):1312-1314. doi: 10.1111/bjd.18221. Epub 2019 Aug 22.

引用本文的文献

Genetic and Phenotypic Features of 2 Northern Italy Families with Dowling-Degos Disease Type 4.

JID Innov. 2025 Mar 20;5(4):100364. doi: 10.1016/j.xjidi.2025.100364. eCollection 2025 Jul.

Comprehensive Catalog of Variants Potentially Associated with Hidradenitis Suppurativa, Including Newly Identified Variants from a Cohort of 100 Patients.

Int J Mol Sci. 2024 Sep 26;25(19):10374. doi: 10.3390/ijms251910374.

EBS in Children with De Novo Pathogenic Variants Disturbing .

Int J Mol Sci. 2024 Mar 4;25(5):2989. doi: 10.3390/ijms25052989.

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