Results 81 to 90 of about 22,799 (245)

Global-genome Nucleotide Excision Repair Controlled by Ubiquitin/Sumo Modifiers [PDF]

, 2016
Global-genome nucleotide excision repair (GG-NER) prevents genome instability by excising a wide range of structurally unrelated DNA base adducts and crosslinks induced by chemical carcinogens, ultraviolet (UV) radiation or intracellular metabolic by ...
Chiara Balbo Pogliano, Hanspeter Naegeli, Peter Rüthemann   +2 more
core   +2 more sources

Germline variants in CDKN2A wild‐type melanoma prone families

Molecular Oncology, Volume 19, Issue 5, Page 1493-1507, May 2025.
Among melanoma‐prone families, wild‐type for CDKN2A and CDK4, some have pathogenic variants in genes not usually linked to melanoma. Furthermore, rare XP‐related variants and variants in MC1R are enriched in such families. Germline pathogenic variants in CDKN2A are well established as an underlying cause of familial malignant melanoma. While pathogenic
Gjertrud T. Iversen, Marie Loeng, Amalie Lund Holth, Per E. Lønning, Jürgen Geisler, Stian Knappskog   +5 more
wiley   +1 more source

Xeroderma Pigmentosum With Early And Rapid Development Of Malignancy

Indian Journal of Dermatology, 2000
A case of xeroderma pigmentosum in a 9 year old developing multiple tumours over a short period of 6 months is reported. The tumours showed two different types of malignancies-squamous cell carcinoma and malignant melanoma.
Ghosh Arghyaprasum, Banerjee Raghubir, Coondoo Arijit   +2 more
doaj  

Photocarcinogenesis of the skin: Current status and future trends

The Kaohsiung Journal of Medical Sciences, Volume 41, Issue 4, April 2025.
Abstract Solar radiation is essential for life on Earth but is also a major contributor to skin carcinogenesis. Solar radiation, particularly ultraviolet (UV) B (280–320 nm) and UVA (320–400 nm), induces photocarcinogenesis via various pathways. UV light can directly cause DNA damage, resulting in genetic mutations if not repaired correctly.
Ting‐Ting Yang, Cheng‐Che E. Lan
wiley   +1 more source

Xeroderma Pigmentosum – Facts and Perspectives [PDF]

Anticancer Research, 2018
Ultraviolet (UV)-induced DNA lesions are almost exclusively removed by the nucleotide excision repair (NER) pathway, which is essential for prevention of skin cancer development. Patients with xeroderma pigmentosum (XP) are extremely sun sensitive due to a genetic defect in components of the NER cascade.
Steffen Emmert, Christina Seebode, Janin Lehmann, Marie Christine Martens   +3 more
openaire   +3 more sources

Cutaneous Tumours With Perineural Involvement in a 42‐Year‐Old Woman

JEADV Clinical Practice, EarlyView.
Ting Fong Yeo, Caitlin Borowsky, Dabean Faraj, Mohammad Elnaggar, Daryl Teo, Wael Hamarneh, Simon Dixon, Rami Salha, Pick‐Ngor Woo   +8 more
wiley   +1 more source

The Ercc1−/Δ mouse model of XFE progeroid syndrome undergoes accelerated retinal degeneration

Aging Cell, Volume 24, Issue 3, March 2025.
Spontaneous endogenous DNA damage drives key hallmarks of age‐related retinal degeneration, including visual impairment, photoreceptor cell loss, dysmorphic RPE, mitochondrial dysfunction, and cellular senescence. Therefore, Ercc1−/Δ mice represent a valuable model for further mechanistic studies on age‐related retinal degeneration and for rapid ...
Akilavalli Narasimhan, Seok Hong Min, Laura L. Johnson, Heidi Roehrich, William Cho, Tracy K. Her, Caeden Windschitl, Ryan D. O'Kelly, Luise Angelini, Matthew J. Yousefzadeh, Linda K. McLoon, William W. Hauswirth, Paul D. Robbins, Dorota Skowronska‐Krawczyk, Laura J. Niedernhofer   +14 more
wiley   +1 more source

Mouse model for the DNA repair/basal transcription disorder Trichothiodystrophy reveals cancer predisposition. [PDF]

, 1999
Patients with the nucleotide excision repair (NER) disorder xeroderma pigmentosum (XP) are highly predisposed to develop sunlight-induced skin cancer, in remarkable contrast to photosensitive NER-deficient trichothiodystrophy (TTD) patients carrying ...
Beems, R.B. (Rudolf), Berg, R.J.W. (Rob), Boer, J. (Jan) de, Bootsma, D. (Dirk), Garssen, J. (Johan), Gruijl, F.R. (Frank) de, Hoeijmakers, J.H.J. (Jan), Horst, G.T.J. (Gijsbertus) van der, Kreijl, C.F. (Coen) van, Oostrom, C.T.M. (Conny) van, Steeg, H. (Harry) van, Weeda, G. (Geert), Wit, J. (Jan) de   +12 more
core   +1 more source

A New Disorder in UV-Induced Skin Cancer with Defective DNA Repair Distinct from Xeroderma Pigmentosum or Cockayne Syndrome [PDF]

, 2008
We report the characterization of a Japanese woman who exhibited many freckles and skin cancers in sun-exposed areas, but displayed no photosensitivity.
Egawa, Kiyofumi, Hashimoto, Satoru, Igarashi, Ai, Ihn, Hironobu, Matsunaga, Tsukasa, Tateishi, Satoshi, Yamaizumi, Masaru   +6 more
core   +1 more source

Xeroderma pigmentosum: A rare case report with review of literature

Journal of Indian Academy of Oral Medicine and Radiology, 2012
Xeroderma pigmentosum, or XP, is an autosomal recessive genetic disorder in which the ability to repair DNA damage caused by ultraviolet (UV) light is deficient. In extreme cases, all exposure to sunlight must be forbidden, no matter how small.
B Anand, Subramanian Kailasam, P Mahesh Kumar, K Srividhya   +3 more
doaj   +1 more source