Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Mieran Sethi"'
Publikováno v:
European Medical Journal Dermatology, Vol 1, Iss 1, Pp 54-63 (2013)
Xeroderma pigmentosum (XP) is a rare, autosomal recessive disorder of DNA repair. Affected individuals are unable to repair ultraviolet radiation (UVR)-induced DNA damage, leading to a variety of clinical manifestations: a dramatic increase in muco
Externí odkaz:
https://doaj.org/article/0ed3e5af45b445cf8e04a8d1de0d3b59
Publikováno v:
Ophthalmology. 124:1652-1661
Purpose To document the ocular manifestations of xeroderma pigmentosum (XP), presenting via the United Kingdom (UK) XP service, and to analyze the correlations between XP genotype and ophthalmic phenotype. Design Prospective observational case series
Autor:
Paola Giunti, Tiziana Nardo, Gemma Harrop, Natalie Chandler, Robert Sarkany, Antony R. Young, Jonathan F. Wing, Elena Botta, Adesoji Abiona, Tammy Hedderly, Nicolaas G. J. Jaspers, Harsha Naik, Shehla Mohammed, D.H. McGIBBON, Ana M. S. Morley, Emma Craythorne, Miria Stefanini, Mieran Sethi, Heather Fawcett, Sally Turner, Hiva Fassihi, Alan R. Lehmann, Tanya Henshaw, Isabel Garrood, Rongxuan Lim
Publikováno v:
Proceedings of the National Academy of Sciences of the U.S.A., 113(9), E1236-E1245. National Academy of Sciences
Xeroderma pigmentosum (XP) is a rare DNA repair disorder characterized by increased susceptibility to UV radiation (UVR)-induced skin pigmentation, skin cancers, ocular surface disease, and, in some patients, sunburn and neurological degeneration. Ge
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32f01bb327256afb61d202039231d5db
https://pure.eur.nl/en/publications/c4663d7f-63fa-48f8-95f5-18978d5bf723
https://pure.eur.nl/en/publications/c4663d7f-63fa-48f8-95f5-18978d5bf723
Autor:
Mieran Sethi, Jonathan F. Wing, Ian M. Frayling, D.H. McGIBBON, Antony R. Young, Shaheen Haque, Heather Fawcett, Alan R. Lehmann, Hiva Fassihi, Shehla Mohammed, Paul Norris, Robert Sarkany, Natalie Chandler
Publikováno v:
The Journal of investigative dermatology. 136(4)
Autor:
Nan Jia, Mayuko Shimada, Hiroshi Ueda, Tomoo Ogi, Mieran Sethi, Yuji Nagayama, Yuka Nakazawa, Yoshito Takahashi, Guo Chaowan
Publikováno v:
Nature protocols. 10(1)
DNA repair systems protect cells from genomic instability and carcinogenesis. Therefore, assays for measuring DNA repair activity are valuable, not only for clinical diagnoses of DNA repair deficiency disorders but also for basic research and antican
Autor:
Mieran Sethi, Munir Yahya Hussein Al-Arashi, Catherine M. Stefanato, Emma E. Craythorne, Jag Bhawan
Publikováno v:
The American Journal of dermatopathology. 36(6)
BACKGROUND: Macromelanosomes are melanin-containing granules characterized by their large size and spherical or ellipsoidal morphology. They are reported to be present in a variety of pigmented skin lesions, including lentigines. However, there is li