Publications


High frequency of PTEN mutations in nevi and melanomas from xeroderma pigmentosum patients.
Pigment Cell Melanoma Res 2014 May 21;27(3):454-64. Epub 2014 Feb 21.
Dermatology Branch, Center for Cancer Research, National Cancer Institute, Bethesda, MD, USA; Division of Dermatology, Graduate School of Medicine, Kobe University, Kobe, Japan.








Evidence of ultraviolet type mutations in xeroderma pigmentosum melanomas.
Proc Natl Acad Sci U S A 2009 Apr 27;106(15):6279-84. Epub 2009 Mar 27.
Basic Research Laboratory, Laboratory of Pathology, Dermatology Branch, Medical Oncology Branch, Center for Cancer Research, National Cancer Institute, Bethesda, MD 20892, USA.


XPC initiation codon mutation in xeroderma pigmentosum patients with and without neurological symptoms.
DNA Repair (Amst) 2009 Jan 14;8(1):114-25. Epub 2008 Nov 14.
Basic Research Laboratory, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, United States.

Skin cancers, blindness, and anterior tongue mass in African brothers.
J Am Acad Dermatol 2008 Nov;59(5):881-6
Basic Research Laboratory, DNA Repair Section, Center for Cancer Research, National Cancer Institute, Bethesda, MD 20892-4258, USA.


Xeroderma pigmentosum-variant patients from America, Europe, and Asia.
J Invest Dermatol 2008 Aug 27;128(8):2055-68. Epub 2008 Mar 27.
DNA Repair Section, Basic Research Laboratory, Center for Cancer Research, National Cancer Institute, Bethesda, Maryland 20892-4258, USA.

Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): xeroderma pigmentosum without and with Cockayne syndrome.
Hum Mutat 2006 Nov;27(11):1092-103
DNA Repair Section, Basic Research Laboratory, Center for Cancer Research, National Cancer Institute, Bethesda, Maryland 20892-4258, USA.

Structural and molecular hair abnormalities in trichothiodystrophy.
J Invest Dermatol 2006 Oct 25;126(10):2210-6. Epub 2006 May 25.
DNA Repair Section, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892-4258, USA.





Two essential splice lariat branchpoint sequences in one intron in a xeroderma pigmentosum DNA repair gene: mutations result in reduced XPC mRNA levels that correlate with cancer risk.
Hum Mol Genet 2004 Feb 8;13(3):343-52. Epub 2003 Dec 8.
Basic Research Laboratory, Center for Cancer Research, National Cancer Institute/NIH, Building 37 Room 4002 MSC 4258, Bethesda, MD 20892-4258, USA.




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