A Novel XPA Gene Mutation and its Functional Analysis in a Japanese Patient with Xeroderma Pigmentosum Group A-Reference-Cited by-同舟云学术

A Novel XPA Gene Mutation and its Functional Analysis in a Japanese Patient with Xeroderma Pigmentosum Group A

Published:2005-08 Issue:2 Volume:125 Page:244-246
ISSN:0022-202X
Container-title:Journal of Investigative Dermatology
language:en
Short-container-title:Journal of Investigative Dermatology

Author:

Tanioka Miki,Budiyant Arief,Ueda Takahiro,Nagano Tohru,Ichihashi Masamitsu,Miyachi Yoshiki,Nishigori Chikako

Publisher

Wiley

Subject

Cell Biology,Dermatology,Molecular Biology,Biochemistry

Reference12 articles.

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2. Molecular Cloning Second Edition: A Laboratory Manual;Maniatis,1989

3. Identification and characterization of xpac protein, the gene product of the human XPAC (xeroderma pigmentosum group A complementing) gene;Miura;J Biol Chem,1991

4. Gene alternation and clinical characteristics of xeroderma pigmentosum group A patients in Japan;Nishigori;Arch Dermatol,1994

5. High prevalence of the point mutation in exon 6 of the xeroderma pigmentosum group A-complementing (XPAC) gene in xeroderma pigmentosum group A patients in Tunisia;Nishigori;Am J Hum Genet,1993

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1. Cell migration is impaired in XPA ‐deficient cells;FASEB BioAdvances;2022-12-12

2. Novel therapeutic approaches to xeroderma pigmentosum;British Journal of Dermatology;2018-11-25

3. An XPA gene splicing mutation resulting in trace protein expression in an elderly patient with xeroderma pigmentosum group A without neurological abnormalities;British Journal of Dermatology;2017-05-19

4. XPA: A key scaffold for human nucleotide excision repair;DNA Repair;2016-08

5. Xeroderma pigmentosum group A with mutational hot spot (c.390-1G>C in XPA ) in South Korea;Journal of Genetic Medicine;2016-06-30