Results 21 to 30 of about 11,060 (134)

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

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

Whole-Exome Sequencing Enables Rapid Determination of Xeroderma Pigmentosum Molecular Etiology [PDF]

, 2013
Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder haracterized by extreme sensitivity to actinic pigmentation changes in the skin and increased incidence of skin cancer. In some cases, patients are affected by neurological alterations. XP
Bermúdez, Olga, Fonseca-Mendoza, Dora Janeth, Ine´s Vergara, Jéssica, Laissue, Paul, Medina, Claudia Liliana, Mosquera, Hernando, Ortega-Recalde, Oscar-Javier, Pallares, Argemiro Enrique, Restrepo, Carlos Martín, Ríos, Xiomara, Vargas, Clara   +10 more
core   +5 more sources

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 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

Structural basis of TFIIH activation for nucleotide excision repair. [PDF]

, 2019
Nucleotide excision repair (NER) is the major DNA repair pathway that removes UV-induced and bulky DNA lesions. There is currently no structure of NER intermediates, which form around the large multisubunit transcription factor IIH (TFIIH).
Chernev, A., Cramer, P., Dienemann, C., Kokic, G., Tegunov, D., Urlaub, H.   +5 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

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  

Xeroderma pigmentosum: case report [PDF]

Revista Paulista de Pediatria, 2023
Objective: The aim of this study was to describe the disease and treatment and to alert health professionals for the identification of signs and symptoms and the need for an early diagnosis in patients with xeroderma pigmentosum (XP).
Maria Eduarda Coelho Cordeiro, Luisa Corte Real, Andrea Gisele Pereira Simoni   +2 more
doaj   +1 more source