Results 21 to 30 of about 25,299 (246)

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

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

Transcription-associated breaks in Xeroderma Pigmentosum group D cells from patients with combined features of Xeroderma Pigmentosum and Cockayne Syndrome [PDF]

, 2005
Defects in the XPD gene can result in several clinical phenotypes, including xeroderma pigmentosum (XP), trichothiodystrophy, and, less frequently, the combined phenotype of XP and Cockayne syndrome (XP-D/CS).
Andressoo, Jaan-Olle, Botta, Elena, Fousteri, Maria I., Fujimoto, Mitsuo, Harries, Lorna W., Jaspers, Nicolaas G. J., Lehmann, Alan R., McDaniel, Lisa D., Mitchell, Jay, Mullenders, Leon H., Stefanini, Miria, Theron, Therina, Volker, Marcel   +12 more
core   +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

Structure and mechanism of human DNA polymerase η [PDF]

, 2010
The variant form of the human syndrome xeroderma pigmentosum (XPV) is caused by a deficiency in DNA polymerase eta (Pol eta), a DNA polymerase that enables replication through ultraviolet-induced pyrimidine dimers.
A Alt, A Mees, A Nicholls, A Scrima, AJ McCoy, AJ McCoy, Alan R. Lehmann, AR Lehmann, AT Brünger, BC Broughton, C Masutani, C Masutani, C Vonrhein, Chikahide Masutani, Christian Biertümpfel, DE Brash, DF Jarosz, DG Vassylyev, DV Bugreev, E Bassett, E Glick, F Wang, Fumio Hanaoka, H Inui, H Ling, H Ling, H Ling, H Park, H Saribasak, IW Davis, J Bauer, J Di Lucca, J Trincao, J Yao, Jae Young Lee, JH Min, K Sugasawa, L Jia, L Rey, L Wang, M Tanioka, Mark Gregory, MJ McIlwraith, P Emsley, R Kusumoto, R Kusumoto, RC Wilson, RE Johnson, RJ Kokoska, S Broyde, S Creighton, S Lone, Santiago Ramón-Maiques, SD McCulloch, SG Chaney, T Hishida, T Kawamoto, TC Terwilliger, W Kabsch, W Yang, W Yang, WA Hendrickson, Wei Yang, Y Li, Ye Zhao, Yuji Kondo, Z Otwinowski   +66 more
core   +2 more sources

Translesion synthesis in mammalian cells [PDF]

, 2006
DNA damage blocks the progression of the replication fork. In order to circumvent the damaged bases, cells employ specialized low stringency DNA polymerases, which are able to carry out translesion synthesis (TLS) past different types of damage. The five
Alan R. Lehmann, Avkin, Avkin, Bienko, Garg, Gibbs, Gibbs, Gibbs, Guo, Haracska, Hoege, Huang, Johnson, Kannouche, Kannouche, King, Lehmann, Lemontt, Ling, Maher, Masutani, Masutani, McCulloch, Murakumo, Nair, Nakajima, Nelson, Nelson, Nelson, Ogi, Ohmori, Pages, Stelter, Tissier, Vidal, Watanabe   +35 more
core   +2 more sources

Xeroderma pigmentosum and rhabdoid tumor of the kidney: A very rare case report association

Radiology Case Reports, 2022
The aim of this observation was to report an exceptional association of xeroderma pigmentosum and rhabdoid renal tumor in a 7-year-old girl, diagnosed with imaging and treated by adjuvant chemotherapy.
Fatima zohra Ahsayen, MD, Hanane El aggari, MD, Zakaria Haddadi, MD, Anass Haloui, MD, Amal Bennani, MD, Imane Skiker, MD, Imane Kamaoui, MD   +6 more
doaj   +1 more source

TGF-β signaling links E-cadherin loss to suppression of nucleotide excision repair. [PDF]

, 2016
E-cadherin is a cell adhesion molecule best known for its function in suppressing tumor progression and metastasis. Here we show that E-cadherin promotes nucleotide excision repair through positively regulating the expression of xeroderma pigmentosum ...
Barcellos-Hoff, MH, He, YY, Qiang, L, Shah, P   +3 more
core   +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 A Multidisciplinary Approach [PDF]

European Medical Journal Dermatology, 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 ...
Mieran Sethi, Alan R. Lehmann, Hiva Fassihi   +2 more
doaj