Results 21 to 30 of about 117,669 (273)

TREX1 DNA exonuclease deficiency, accumulation of single stranded DNA and complex human genetic disorders [PDF]

, 2008
Aicardi-Goutieres syndrome (AGS) is an unusual condition that clinically mimics a congenital viral infection. Several genes have recently been implicated in the aetiology of this disorder. One of these genes encodes the DNA exonuclease TREX1. Recent work
Aicardi, Akira, Alderton, Alderton, Bartek, Bartkova, Brennan, Brucet, Chen, Chowdhury, Crow, Crow, de Silva, DiTullio, Driscoll, Gasser, Griffith, Griffiths, Höss, Jazayeri, Kawai, Lee-Kirsch, Lee-Kirsch, Lieberman, Lieberman, Lindahl, Lindahl, Liu, Liu, Liu, Mark O’Driscoll, Martinvalet, Mazur, Mazur, Morita, Napirei, O’Driscoll, O’Driscoll, Qiu, Raulet, Rhodes, Rice, Richards, Shevelev, Stiff, Stiff, Takaoka, Tran, Tsukumo, Vyse, Walport, Yang, Yasutomo, Zou, Zou   +54 more
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DNA methylation and trinucleotide repeat expansion diseases [PDF]

, 2012
Copyright @ 2012 InTechThis article has been made available through the Brunel Open Access Publishing Fund.This article is made available through the Brunel Open Access Publishing ...
Pook, M
core   +1 more source

Protective role of vitamin B6 (PLP) against DNA damage in Drosophila models of type 2 diabetes [PDF]

, 2018
Growing evidence shows that improper intake of vitamin B6 increases cancer risk and several studies indicate that diabetic patients have a higher risk of developing tumors.
MF Fenech, M Fenech, F Mitelman, A Aguilera, SF Bunting, SJ Duthie, MJ Shrubsole, YI Kim, JB Mason, CD Cantarella, R Percudani, R Percudani, ML Salvo di, H Hellmann, AA Booth, P Bilski, SA Denslow, BN Ames, L Galluzzi, S Mocellin, L Galluzzi, B Gylling, A Marzio, P Kanellis, SC Lee, M Brownlee, D Bonnefont-Rousselot, Y Hinokio, MT Goodarzi, E Tatsch, P Graham, RS Garofalo, RW Alfa, LP Musselman, SN Thompson, R Ugrankar, R Bohni, M Tatar, JM Murillo-Maldonado, M Lorenzi, A Rezabakhsh, SE Polo, JP Madigan, PA Jeggo, C Merigliano, H Vlassara, H Stopper, N Schupp, S Golbidi, EA Muellenbach, J Colombani, AT Haselton, SK Kim, G Lee, EJ Rulifson, SJ Broughton, T Ikeya, M Fraser, S Nakamura, M Pischetsrieder, S Nakamura, J Blasiak, PT Clayton, M Okada, JE Leklem, HJ Ahn, WA Nix, M Gatti, S Bonaccorsi, FJ Diaz-Benjumea   +69 more
core   +2 more sources

Frequent retrotransposition of endogenous genes in ERCC2-deficient cells derived from a patient with xeroderma pigmentosum

Stem Cell Research & Therapy, 2019
Background Retrotransposition of protein-coding genes is thought to occur due to the existence of numerous processed pseudogenes in both animals and plants.
Saki Aoto, Saki Katagiri, Yi Wang, Alistair T. Pagnamenta, Rie Sakamoto-Abutani, Masashi Toyoda, Akihiro Umezawa, Kohji Okamura   +7 more
doaj   +1 more source

Inborn errors of immunity associated with characteristic phenotypes

Jornal de Pediatria, 2021
Objectives: The aim of the report is to describe the main immunodeficiencies with syndromic characteristics according to the new classification of Inborn Errors of Immunity.
Maine Luellah Demaret Bardou, Marina Teixeira Henriques, Anete Sevciovic Grumach   +2 more
doaj   +1 more source

Mitochondrial Dysfunction in Aging and Diseases of Aging. [PDF]

, 2019
Mitochondria have been increasingly recognized as the important players in the aging process [...]
Haas, Richard H
core   +2 more sources

DNA ligase IV dificiency with elevated serum IgG levels suspected to have myelodysplastic syndrome: a case report

BMC Pediatrics, 2022
Background Ligase IV (LIG4) dificiency is a very rare clinical syndrome with around 50 cases reported to date. This syndrome is caused by biallelic pathogenic variants in the LIG4 gene, which cause DNA damage repair disorders, mainly manifesting as ...
Miao Huang, Guoqing Dong, Xiyan Lu, Fei Xiao, Qixin Zhou, Shaoyi Zhang   +5 more
doaj   +1 more source

On a break with the X: the role of repair of double-stranded DNA breaks in X-linked disease [PDF]

, 2012
The problem of managing free reactive DNA ends in eukaryotic cells has resulted in the development of a number of mechanisms in order to ensure that free ends are rendered non-reactive, or that the double-strand DNA breaks generating the free ends are ...
Cecceroni, Lucia, De Caris, Laura, Tummala, Hemanth   +2 more
core   +4 more sources

PPARδ status and mismatch repair mediated neoplasia in the mouse intestine

BMC Cancer, 2006
Background Therapeutic regulation of PPARδ activity using selective agonists has been proposed for various disorders. However, the consequences of altered peroxisome proliferator-activated receptor delta (PPARδ) activity in the context of intestinal ...
Peters Jeffrey M, Gescher Andreas J, Hayes Anthony J, Sansom Owen J, Reed Karen R, Clarke Alan R   +5 more
doaj   +1 more source

Epigenetics in Friedreich's ataxia: Challenges and opportunities for therapy [PDF]

, 2013
Copyright © 2013 Chiranjeevi Sandi et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly ...
Al-Mahdawi, S, Pook, MA, Sandi, C
core   +2 more sources