An XPA gene splicing mutation resulting in trace protein expression in an elderly patient with xeroderma pigmentosum group A without neurological abnormalities-Reference-Cited by-同舟云学术

An XPA gene splicing mutation resulting in trace protein expression in an elderly patient with xeroderma pigmentosum group A without neurological abnormalities

Published:2017-05-19 Issue:1 Volume:177 Page:253-257
ISSN:0007-0963
Container-title:British Journal of Dermatology
language:en
Short-container-title:Br J Dermatol

Author:

Takahashi Y.¹,Endo Y.¹,Kusaka-Kikushima A.¹,Nakamaura S.¹,Nakazawa Y.²,Ogi T.²³,Uryu M.⁴,Tsuji G.⁴,Furue M.⁴,Moriwaki S.⁵

Affiliation:

1. Biological Science Research; Kao Corporation; Odawara Japan

2. Department of Molecular Medicine; Atomic Bomb Disease Institute; Nagasaki University; Nagasaki Japan

3. Department of Genetics; Research Institute of Environmental Medicine; Nagoya University; Nagoya Japan

4. Department of Dermatology; Graduate School of Medical Sciences; Kyushu University; Fukuoka Japan

5. Department of Dermatology; Osaka Medical College; 2-7 Daigaku-machi Takatsuki Osaka 569-8686 Japan

Funder

Grants-in-Aid for Scientific Research

Ministry of Health, Labour and Welfare

Japanese Ministry of Health, Labour and Welfare

Publisher

Wiley

Subject

Dermatology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/bjd.15051/fullpdf

Reference18 articles.

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2. Neurological symptoms and natural course of xeroderma pigmentosum;Anttinen;Brain,2008

3. Eukaryotic nucleotide excision repair: from understanding mechanisms to influencing biology;Shuck;Cell Res,2008

4. XPA gene mutations resulting in subtle truncation of protein in xeroderma pigmentosum group A patients with mild skin symptoms;Takahashi;J Invest Dermatol,2010

5. A semi-automated non-radioactive system for measuring recovery of RNA synthesis and unscheduled DNA synthesis using ethynyluracil derivatives;Nakazawa;DNA Repair,2010

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3. Characteristics of Xeroderma Pigmentosum in Japan: Lessons From Two Clinical Surveys and Measures for Patient Care;Photochemistry and Photobiology;2018-12-28

4. Structural dynamics and interactions of Xeroderma pigmentosum complementation group A (XPA98–210) with damaged DNA;Journal of Biomolecular Structure and Dynamics;2017-10-25

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