Results 11 to 20 of about 25,299 (246)

Uncovering the Role of DNA Repair Impairment in UVA-Induced Mutagenesis in Human Xeroderma Pigmentosum Variant Cells. [PDF]

Mol Carcinog
ABSTRACT Ultraviolet A (UVA) radiation induces DNA damage both directly, by forming cyclobutane pyrimidine dimers (CPDs), and indirectly, by generating oxidative stress. Cells rely on nucleotide excision repair (NER) and translesion synthesis (TLS) to tolerate these lesions.
Corradi C, Moreno NC, Quintero-Ruiz N, Silva Leandro GD, Teatin Latancia M, de Souza TA, Munford V, Menck CFM.   +7 more
europepmc   +2 more sources

Xeroderma pigmentosum: an updated review

Drugs in Context, 2022
Background: Early recognition of xeroderma pigmentosum is important to minimize the complications arising from the harmful effects of exposure to ultraviolet radiation.
Alexander KC Leung, Benjamin Barankin, Joseph M Lam, Kin Fon Leong, Kam Lun Hon   +4 more
doaj   +1 more source

Xeroderma Pigmentosum [PDF]

Head and Neck Pathology, 2016
Xeroderma pigmentosum (XP) is a rare disorder of defective UV-radiation induced damage repair that is characterized by photosensitivity with easy skin burning following minimal sun exposure, early freckling and development of lentiginous pigmentation along with other features of poikiloderma and a propensity for developing skin cancer at an early age ...
Muhammad Ahmad Ghazi, Amna Maqsood, Yasir Akram, Muhammad Arshad Cheema   +3 more
openaire   +4 more sources

Recurrent squamous cell carcinoma and a novel mutation in a patient with xeroderma pigmentosum: a case report

Journal of Medical Case Reports, 2022
Background Xeroderma pigmentosum is an extremely serious genetic disorder defined by sensitivity to sunlight, resulting in sunburn and pigment changes.
Ezgi Aysu Şahin, Ekim Zihni Taşkıran, Pelin Özlem Şimşek Kiper, Burça Aydın, Eda Utine   +4 more
doaj   +1 more source

De Sanctis-Cacchione Syndrome in a female infant - Case report [PDF]

Anais Brasileiros de Dermatologia, 2013
The De Sanctis-Cacchione Syndrome is the rarest and most severe kind of xeroderma pigmentosum, characterized by microcephaly, hypogonadism, neurological disorders, mental and growth retardation, with very few cases published.
Amadeus Lima Rocha Caldas, Mecciene Mendes Rodrigues   +1 more
doaj   +1 more source

DNA repair: Disorders [PDF]

, 2010
No description ...
Bose, Burg, Caldecott, Chu, Digweed, Fernandez-Capetillo, Fousteri, Fousteri, Friedberg, Gudmundsdottir, Hashimoto, Hoeijmakers, Jiricny, Kraemer, Lavin, Lehmann, Lieber, Ma, Masutani, McCulloch, Meindl, Moldovan, Moshous, Nance, Nouspikel, O'Driscoll, O'Driscoll, O'Driscoll, O'Driscoll, Rass, Stefanini, Stewart, Stracker, Taylor, Vaz, Wu, Zlatanou   +36 more
core   +1 more source

A novel splice variant of the DNA-PKcs gene is associated with clinical and cellular radiosensivity in a patient with xeroderma pigmentosum [PDF]

, 2010
Background: Radiotherapy-induced DNA double-strand breaks (DSBs) are critical cytotoxic lesions. Inherited defects in DNA DSB repair pathways lead to hypersensitivity to ionising radiation, immunodeficiency and increased cancer incidence.
Abbaszadeh, Fatemah, Arlett, Colin F., Bourton, E.C, Clingen, Peter H., Green, M H, Makarov, E.M., Newbold, R.F, Parris, C.N., Plowman, P.N, Themis, M.   +9 more
core   +1 more source

Identification of a novel protein truncating mutation p.Asp98* in XPC associated with xeroderma pigmentosum in a consanguineous Pakistani family

Molecular Genetics & Genomic Medicine, 2020
Background Xeroderma pigmentosum (XP) is a rare genetic disorder, which is characterized by hyper‐sensitivity to solar ultraviolet (UV) radiation. Clinical consequences of sun exposure are skin lesions and an increased risk of developing skin cancer ...
Muhammad Z. Ali, Jasmin Blatterer, Muzammil A. Khan, Erich Schaflinger, Erwin Petek, Safeer Ahmad, Ejazullah Khan, Christian Windpassinger   +7 more
doaj   +1 more source

Bilateral limbal stem cell deficiency with xeroderma pigmentosum in a young Asian child

Clinical Case Reports, 2023
Key Clinical Message Xeroderma pigmentosum is an autosomal recessive disorder with various ocular manifestations of which bilateral limbal stem cell deficiency is a rare manifestation.
Bharat Gurnani, Kirandeep Kaur
doaj   +1 more source

Retrospective study of efficacy and adverse events of immune checkpoint inhibitors in 22 xeroderma pigmentosum patients with metastatic or unresectable cancers

Frontiers in Oncology, 2023
BackgroundXeroderma pigmentosum (XP), a rare disease with defects in DNA repair genes, has >1,000-fold increased risk of ultraviolet-induced skin cancers.
Elvelyn R. Fernandez, Deborah Tamura, Sikandar G. Khan, Sophie Momen, Hiva Fassihi, Robert Sarkany, John J. DiGiovanna, Kenneth H. Kraemer   +7 more
doaj   +1 more source