Country Centred Reports

Country Name Skin Cancer Type Publications
India Xeroderma pigmentosum Clinical Profile and Mutation Analysis of Xeroderma Pigmentosum in Indian Patients.
Xeroderma Pigmentosum - M.L. Kulkarni, K. Saniay Kani
Cockayne Syndrome A Rare Case of Cockayne Syndrome: MRI Features - P. Mundaganur.
Japan Xeroderma pigmentosum Prenatal Diagnosis of Xeroderma Pigmentosum Group A in Japan.
The Present Status of Xeroderma Pigmentosum in Japan and a Tentative Severity Classification Scale.
Cockayne Syndrome Cockayne Syndrome: Report of Two Siblings and Review of Literature in Japan.
Trichothiodystrophy A Japanese Trichothiodystrophy Patient with XPD Mutations.
Africa Xeroderma pigmentosum Founder Mutations in Xeroderma Pigmentosum - D. Tamura, J.J. DiGiovanna, K.H. Kraemer.
Xeroderma Pigmentosum in Ghanaians: A Report of Three Cases and Review of Literature.
Cockayne Syndrome Infantile Onset of Cockayne Syndrome Without Photosensitivity in a Tunisian Girl.


Most Popular Journals

  • Understanding Xeroderma Pigmentosum Complementation Groups Using Gene Expression Profiling after UV-Light Exposure. Bowden NA, Beveridge NJ, Ashton KA, Baines KJ, Scott RJ. Int J Mol Sci; 2015;16(7):15985-96.
  • Systems biology approach for mutational and site-specific structural investigation of DNA repair genes for xeroderma pigmentosum. Sehgal M, Singh TR. Gene; 2014 Jun 10;543(1):108-17.
  • DNA damage and gene therapy of xeroderma pigmentosum, a human DNA repair-deficient disease. Dupuy A, Sarasin A. Mutat Res; 2015 Jun;776:2-8.
  • Overview of xeroderma pigmentosum proteins architecture, mutations and post-translational modifications. Feltes BC, Bonatto D. Mutat Res Rev Mutat Res; 2015 Jan-Mar;763:306-20.
  • Xeroderma pigmentosum: diagnostic procedures, interdisciplinary patient care, and novel therapeutic approaches. Lehmann J, Schubert S, Emmert S. J Dtsch Dermatol Ges; 2014 Oct;12(10):867-72.
  • Development of effective skin cancer treatment and prevention in xeroderma pigmentosum. Lambert WC, Lambert MW. Photochem Photobiol; 2015 Mar-Apr;91(2):475-83.
  • Ultraviolet damage, DNA repair and vitamin D in nonmelanoma skin cancer and in malignant melanoma: an update. Reichrath J, Rass K. Adv Exp Med Biol; 2014;810:208-33.
  • A unified model for the molecular basis of Xeroderma pigmentosum-Cockayne Syndrome. Moriel-Carretero M, Herrera-Moyano E, Aguilera A. Rare Dis; 2015;3(1):e1079362.
  • Preventive Long-Term Effects of a Topical Film-Forming Medical Device with Ultra-High UV Protection Filters and DNA Repair Enzyme in Xeroderma Pigmentosum: A Retrospective Study of Eight Cases. Giustini S, Miraglia E, Berardesca E, Milani M, Calvieri S. Case Rep Dermatol; 2014 Sep;6(3):222-6.
  • Modeling xeroderma pigmentosum associated neurological pathologies with patients-derived iPSCs. Fu L, Xu X, Ren R, Wu J, Zhang W, Yang J, Ren X, Wang S, Zhao Y, Sun L, Yu Y, Wang Z, Yang Z, Yuan Y, Qiao J, Izpisua Belmonte JC, Qu J, Liu GH. Protein Cell; 2016 Mar;7(3):210-21.
  • Diagnosis of Xeroderma Pigmentosum Groups A and C by Detection of Two Prevalent Mutations in West Algerian Population: A Rapid Genotyping Tool for the Frequent XPC Mutation c.1643_1644delTG. Bensenouci S, Louhibi L, De Verneuil H, Mahmoudi K, Saidi-Mehtar N. Biomed Res Int; 2016;2016:2180946.
  • Xeroderma Pigmentosum Group A Suppresses Mutagenesis Caused by Clustered Oxidative DNA Adducts in the Human Genome. Sassa A, Kamoshita N, Kanemaru Y, Honma M, Yasui M. PLoS One; 2015;10(11):e0142218.



Recent Publications

  • Xeroderma pigmentosum group C protein interacts with histones: regulation by acetylated states of histone H3. Kakumu E, Nakanishi S, Shiratori HM, Kato A, Kobayashi W, Machida S, Yasuda T, Adachi N, Saito N, Ikura T, Kurumizaka H, Kimura H, Yokoi M, Sakai W, Sugasawa K. Genes Cells; 2017 Mar; 22(3):310-327.
  • Diagnosis of eight groups of xeroderma pigmentosum by genetic complementation using recombinant adenovirus vectors. Yamashita T, Okura M, Ishii-Osai Y, Hida T. J Dermatol; 2016; 43(10):1167-1173.
  • An XPA gene splicing mutation resulting in trace protein expression in an elderly xeroderma pigmentosum group A patient without neurological abnormalities. Takahashi Y, Endo Y, Kusaka A, Nakamaura S, Nakazawa Y, Ogi T, Uryu M, Tsuji M, Furue M, Moriwaki S. Br J Dermatol; 2016.
  • Cockayne syndrome: Clinical features, model systems and pathways. Karikkineth AC, Scheibye-Knudsen M, Fivenson E, Croteau DL, Bohr VA. Ageing Res Rev.; 2017 Jan;33:3-17.
  • Why Cockayne syndrome patients do not get cancer despite their DNA repair deficiency. Reid-Bayliss KS, Arron ST, Loeb LA, Bezrookove V, Cleaver JE. Proc Natl Acad Sci U S A. 2016 Sep 6;113(36):10151-6.
  • Brittle Hair, Photosensitivity, Brain Hypomyelination and Immunodeficiency: Clues to Trichothiodystrophy. Farmaki E, Nedelkopoulou N, Delli F, Sarafidis K, Zafeiriou DI. Indian J Pediatr. 2017 Jan;84(1):89-90.
  • Photosensitive form of trichothiodystrophy associated with a novel mutation in the XPD gene. Brauns B, Schubert S, Lehmann J, Laspe P, Körner A, Brockmann K, Schön MP, Emmert S. Photodermatol Photoimmunol Photomed. 2016 Mar;32(2):110-2.