1型点状掌跖角化病：一种新型AAGAB突变及阿维A酯的疗效 - Suppr

Punctate palmoplantar keratoderma type 1: a novel AAGAB mutation and efficacy of etretinate.

作者信息

Nomura Toshifumi, Yoneta Akihiro, Pohler Elizabeth, Suzuki Shotaro, Osawa Rinko, Mizuno Osamu, Ohguchi Yuka, Nomura Yukiko, Yamashita Toshiharu, McLean W H Irwin, Shimizu Hiroshi

机构信息

Department of Dermatology, Hokkaido University Graduate School of Medicine, North 15 West, Kita-ku, Sapporo 060-8638, Japan.

出版信息

Acta Derm Venereol. 2015 Jan;95(1):110-1. doi: 10.2340/00015555-1832.

DOI:10.2340/00015555-1832

PMID:24573067

Abstract

摘要

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Acta Derm Venereol. 2015 Jan;95(1):110-1. doi: 10.2340/00015555-1832.

Low-dose etretinate shows promise in management of punctate palmoplantar keratoderma type 1: Case report and review of the published work.

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Punctate palmoplantar keratoderma type 1: a novel AAGAB mutation and efficacy of etretinate.

作者信息

Nomura Toshifumi, Yoneta Akihiro, Pohler Elizabeth, Suzuki Shotaro, Osawa Rinko, Mizuno Osamu, Ohguchi Yuka, Nomura Yukiko, Yamashita Toshiharu, McLean W H Irwin, Shimizu Hiroshi

机构信息

Department of Dermatology, Hokkaido University Graduate School of Medicine, North 15 West, Kita-ku, Sapporo 060-8638, Japan.

出版信息

Acta Derm Venereol. 2015 Jan;95(1):110-1. doi: 10.2340/00015555-1832.

DOI:10.2340/00015555-1832

PMID:24573067

Abstract

摘要

相似文献

Punctate palmoplantar keratoderma type 1: a novel AAGAB mutation and efficacy of etretinate.

Acta Derm Venereol. 2015 Jan;95(1):110-1. doi: 10.2340/00015555-1832.

Low-dose etretinate shows promise in management of punctate palmoplantar keratoderma type 1: Case report and review of the published work.

J Dermatol. 2015 Sep;42(9):889-92. doi: 10.1111/1346-8138.12916. Epub 2015 Apr 28.

Punctate palmoplantar keratoderma type 1 with a novel AAGAB frameshift mutation: intrafamilial phenotype variation due to ageing.

J Eur Acad Dermatol Venereol. 2017 Mar;31(3):e175-e176. doi: 10.1111/jdv.13906. Epub 2016 Sep 12.

Two Japanese familial cases of punctate palmoplantar keratoderma caused by a novel AAGAB mutation, c.191_194delCAAA.

J Dermatol Sci. 2015 May;78(2):156-8. doi: 10.1016/j.jdermsci.2015.02.004. Epub 2015 Feb 16.

A novel 5-bp deletion mutation in AAGAB gene in a Chinese family with punctate palmoplantar keratoderma.

Acta Derm Venereol. 2014 May;94(3):339-40. doi: 10.2340/00015555-1724.

Alitretinoin in punctate palmoplantar keratoderma.

Br J Dermatol. 2019 Apr;180(4):931-932. doi: 10.1111/bjd.17336. Epub 2018 Dec 19.

Eight Novel Mutations Confirm the Role of AAGAB in Punctate Palmoplantar Keratoderma Type 1 (Buschke-Fischer-Brauer) and Show Broad Phenotypic Variability.

Acta Derm Venereol. 2016 May;96(4):468-72. doi: 10.2340/00015555-2304.

Painful punctate palmoplantar keratoderma due to heterozygous mutations in AAGAB.

Br J Dermatol. 2019 May;180(5):1250-1251. doi: 10.1111/bjd.17442. Epub 2019 Feb 27.

Mutations in 18 Canadian Families With Punctate Palmoplantar Keratoderma and a Possible Link to Cancer.

J Cutan Med Surg. 2020 Jan/Feb;24(1):28-32. doi: 10.1177/1203475419878161. Epub 2019 Sep 16.

Type I hereditary punctate keratoderma associated with widespread lentigo simplex and successfully treated with low-dose oral acitretin.

Arch Dermatol. 2006 Aug;142(8):1076-7. doi: 10.1001/archderm.142.8.1076.

引用本文的文献

Bi-handed assembly chaperones regulate protein complex assembly through an intramolecular handover mechanism.

Sci Adv. 2025 Sep 12;11(37):eadw9158. doi: 10.1126/sciadv.adw9158.

An AAGAB-to-CCDC32 handover mechanism controls the assembly of the AP2 adaptor complex.

Proc Natl Acad Sci U S A. 2024 Aug 20;121(34):e2409341121. doi: 10.1073/pnas.2409341121. Epub 2024 Aug 15.

Is punctate palmoplantar keratoderma type 1 associated with malignancy? A systematic review of the literature.

Orphanet J Rare Dis. 2023 Sep 13;18(1):290. doi: 10.1186/s13023-023-02862-8.

Oligomer-to-monomer transition underlies the chaperone function of AAGAB in AP1/AP2 assembly.

Proc Natl Acad Sci U S A. 2023 Jan 10;120(2):e2205199120. doi: 10.1073/pnas.2205199120. Epub 2023 Jan 4.

AAGAB is an assembly chaperone regulating AP1 and AP2 clathrin adaptors.

J Cell Sci. 2021 Oct 1;134(19). doi: 10.1242/jcs.258587. Epub 2021 Oct 5.

AAGAB Controls AP2 Adaptor Assembly in Clathrin-Mediated Endocytosis.

Dev Cell. 2019 Aug 19;50(4):436-446.e5. doi: 10.1016/j.devcel.2019.06.013. Epub 2019 Jul 25.

Punctate palmoplantar keratoderma type 1: a novel AAGAB mutation and efficacy of etretinate.

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Punctate palmoplantar keratoderma type 1: a novel AAGAB mutation and efficacy of etretinate.

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