Results 21 to 30 of about 22,799 (245)

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

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

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

Xeroderma Pigmentosum: Clinical and Genetic Features and Therapeutic Approaches

Вопросы современной педиатрии, 2021
Xeroderma pigmentosum is rare genetic disorder characterized by increased skin sensitivity to damaging ultraviolet (UV) light. First symptoms manifest at early age in most cases (up to 75%).
Tatyana S. Belysheva, Tatyana V. Nasedkina, Iryna S. Kletskaya, Anastasiya S. Volkova, Vera V. Semenova, Timur T. Valiev   +5 more
doaj   +1 more source

A semi-automated non-radiactive system for measuring recovery of RNA synthesis and unscheduled DNA synthesis using ethynyluracil derivatives [PDF]

, 2010
Nucleotide excision repair (NER) removes the major UV-photolesions from cellular DNA. In humans, compromised NER activity is the cause of several photosensitive diseases, one of which is the skin-cancer predisposition disorder, xeroderma pigmentosum (XP).
Alan R. Lehmann, Arlett, Arlett, Bootsma, Cleaver, Droy, Friedberg, Gillet, Hanawalt, Hashimoto, Jao, Kraemer, Lehmann, Lehmann, Lehmann, Limsirichaikul, Mallery, Masutani, Mayne, Moriwaki, Salic, Shuck, Shunichi Yamashita, Stefanini, Tohda, Tomoo Ogi, Vincent, Yuka Nakazawa   +27 more
core   +3 more sources

Xeroderma pigmentosum [PDF]

BMJ, 2008
My son Alex was diagnosed with xeroderma pigmentosum at the age of 4 years. He was born in Germany and lived there for the first two years of his life. Before the diagnosis, he had had a series of severe sunburns, the first at the age of 7 weeks through a car window, and then the worst when he was 11 months old on a winter holiday in Austria.
openaire   +3 more sources

A novel frameshift mutation in the XPC gene in a Moroccan patient: a case report

Journal of Medical Case Reports, 2017
Background Xeroderma pigmentosum is an autosomal recessive inherited disease. The diagnosis is essentially based on clinical findings and the family history.
Yassamine Doubaj, Wiam Smaili, Fatima-Zahra Laarabi, Abdelaziz Sefiani   +3 more
doaj   +1 more source

Xeroderma pigmentosum: a case report and review of the literature [PDF]

, 2010
Inherited molecular defects in nucleotide excision repair genes cause the autosomal recessive condition xeroderma pigmentosum. Xeroderma pigmentosum is characterized by photo-hyper- sensitivity of sun-exposed tissues, and by a several thousand-fold ...
Feller, L, Khammissa, RA, Lemmer, J, Meyer, M, Motswaledi, MH, Wood, NH   +5 more
core   +2 more sources

Hydrogen peroxide induced genomic instability in nucleotide excision repair-deficient lymphoblastoid cells [PDF]

, 2010
Copyright @ 2010 Gopalakrishnan et al; licensee BioMed Central Ltd.Background The Nucleotide Excision Repair (NER) pathway specialises in UV-induced DNA damage repair. Inherited defects in the NER can predispose individuals to Xeroderma Pigmentosum (XP).
Gopalakrishnan, K, Hande, P, Low, GKM, Slijepcevic, P, Srikanth, P, Ting, APL   +5 more
core   +2 more sources