Literature DB >> 23194742

Ancient origin of a Japanese xeroderma pigmentosum founder mutation.

Kyoko Imoto, Carine Nadem, Shin-Ichi Moriwaki, Chikako Nishigori, Kyu-Seon Oh, Sikandar G Khan, Alisa M Goldstein, Kenneth H Kraemer.   

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Year:  2012        PMID： 23194742      PMCID： PMC3570715          DOI： 10.1016/j.jdermsci.2012.10.008

Source DB:  PubMed          Journal:  J Dermatol Sci        ISSN： 0923-1811            Impact factor:   4.563


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  10 in total

Review 1.  Xeroderma pigmentosum--bridging a gap between clinic and laboratory.

Authors:  S Moriwaki; K H Kraemer
Journal:  Photodermatol Photoimmunol Photomed       Date:  2001-04       Impact factor: 3.135

2.  Estimating the age of rare disease mutations: the example of Triple-A syndrome.

Authors:  E Genin; A Tullio-Pelet; F Begeot; S Lyonnet; L Abel
Journal:  J Med Genet       Date:  2004-06       Impact factor: 6.318

3.  Heterozygous individuals bearing a founder mutation in the XPA DNA repair gene comprise nearly 1% of the Japanese population.

Authors:  Yuko Hirai; Yoshiaki Kodama; Shin-Ichi Moriwaki; Asao Noda; Harry M Cullings; Donald G Macphee; Kazunori Kodama; Kiyohiko Mabuchi; Kenneth H Kraemer; Charles E Land; Nori Nakamura
Journal:  Mutat Res       Date:  2006-08-14       Impact factor: 2.433

4.  Cancer and neurologic degeneration in xeroderma pigmentosum: long term follow-up characterises the role of DNA repair.

Authors:  Porcia T Bradford; Alisa M Goldstein; Deborah Tamura; Sikandar G Khan; Takahiro Ueda; Jennifer Boyle; Kyu-Seon Oh; Kyoko Imoto; Hiroki Inui; Shin-Ichi Moriwaki; Steffen Emmert; Kristen M Pike; Arati Raziuddin; Teri M Plona; John J DiGiovanna; Margaret A Tucker; Kenneth H Kraemer
Journal:  J Med Genet       Date:  2010-11-19       Impact factor: 6.318

5.  Characterization of a splicing mutation in group A xeroderma pigmentosum.

Authors:  I Satokata; K Tanaka; N Miura; I Miyamoto; Y Satoh; S Kondo; Y Okada
Journal:  Proc Natl Acad Sci U S A       Date:  1990-12       Impact factor: 11.205

6.  Absence of DNA repair deficiency in the confirmed heterozygotes of xeroderma pigmentosum group A.

Authors:  S Moriwaki; C Nishigori; T Teramoto; T Tanaka; S Kore-eda; H Takebe; S Imamura
Journal:  J Invest Dermatol       Date:  1993-07       Impact factor: 8.551

7.  A case of xeroderma pigmentosum group A diagnosed with a polymerase chain reaction (PCR) technique. Usefulness of PCR in the detection of point mutation in a patient with a hereditary disease.

Authors:  S Kore-eda; T Tanaka; S Moriwaki; C Nishigori; S Imamura
Journal:  Arch Dermatol       Date:  1992-07

8.  Incidence of DNA repair deficiency disorders in western Europe: Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy.

Authors:  Wim J Kleijer; Vincent Laugel; Mark Berneburg; Tiziana Nardo; Heather Fawcett; Alexei Gratchev; Nicolaas G J Jaspers; Alain Sarasin; Miria Stefanini; Alan R Lehmann
Journal:  DNA Repair (Amst)       Date:  2008-03-10

9.  Gene alterations and clinical characteristics of xeroderma pigmentosum group A patients in Japan.

Authors:  C Nishigori; S Moriwaki; H Takebe; T Tanaka; S Imamura
Journal:  Arch Dermatol       Date:  1994-02

Review 10.  Shining a light on xeroderma pigmentosum.

Authors:  John J DiGiovanna; Kenneth H Kraemer
Journal:  J Invest Dermatol       Date:  2012-01-05       Impact factor: 8.551
  10 in total
  2 in total

1.  Understanding Xeroderma Pigmentosum Complementation Groups Using Gene Expression Profiling after UV-Light Exposure.

Authors:  Nikola A Bowden; Natalie J Beveridge; Katie A Ashton; Katherine J Baines; Rodney J Scott
Journal:  Int J Mol Sci       Date:  2015-07-14       Impact factor: 5.923

2.  Frequent retrotransposition of endogenous genes in ERCC2-deficient cells derived from a patient with xeroderma pigmentosum.

Authors:  Saki Aoto; Saki Katagiri; Yi Wang; Alistair T Pagnamenta; Rie Sakamoto-Abutani; Masashi Toyoda; Akihiro Umezawa; Kohji Okamura
Journal:  Stem Cell Res Ther       Date:  2019-08-27       Impact factor: 6.832
  2 in total

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