Results 11 to 20 of about 3,751,417 (261)

Distinctive features of single nucleotide alterations in induced pluripotent stem cells with different types of DNA repair deficiency disorders. [PDF]

Sci Rep, 2016
AbstractDisease-specific induced pluripotent stem cells (iPSCs) have been used as a model to analyze pathogenesis of disease. In this study, we generated iPSCs derived from a fibroblastic cell line of xeroderma pigmentosum (XP) group A (XPA-iPSCs), a rare autosomal recessive hereditary disease in which patients develop skin cancer in the areas of skin ...
Okamura K, Sakaguchi H, Sakamoto-Abutani R, Nakanishi M, Nishimura K, Yamazaki-Inoue M, Ohtaka M, Periasamy VS, Alshatwi AA, Higuchi A, Hanaoka K, Nakabayashi K, Takada S, Hata K, Toyoda M, Umezawa A.   +15 more
europepmc   +4 more sources

Contribution of defective mitophagy to the neurodegeneration in DNA repair-deficient disorders [PDF]

Autophagy, 2014
DNA repair is a prerequisite for life as we know it, and defects in DNA repair lead to accelerated aging. Xeroderma pigmentosum group A (XPA) is a classic DNA repair-deficient disorder with patients displaying sun sensitivity and cancer susceptibility.
Morten, Scheibye-Knudsen, Evandro Fei, Fang, Deborah L, Croteau, Vilhelm A, Bohr   +3 more
openaire   +2 more sources

Analysis of telomere maintenance in artemis defective human cell lines [PDF]

, 2009
This thesis was submitted for the degree of Doctor of Philosophy and awarded by Brunel University.Telomeres are physical ends of chromosomes consisting of (TTAGGG)n DNA sequence and a specialized set of proteins that protect chromosomal ends from ...
Yasaei, Hemad
core   +5 more sources

CONSTITUTIONAL MISSMATCH DEFECT REPAIR DISORDER (CMMRD) IN PEDIATRIC HIGH GRADE GLIOMA

Hematology, Transfusion and Cell Therapy, 2021
Objective: Pediatric high grade gliomas(HGG) have dismal prognosis with median survival of 9-15 months after standard radio-chemptherapy. Recent molecular investigations revealed a missmatch repair defect called Constitutional Mismatch Repair Deficiency (
Bahattin Tanrıkulu, Ayça Erşen Danyeli, Cengiz Canpolat, M. Memet Özek   +3 more
doaj   +1 more source

Clinical measurement of cellular DNA damage hypersensitivity in patients with DNA repair defects

Orphanet Journal of Rare Diseases, 2022
Background DNA repair deficiency disorders are rare inherited diseases arising from pathogenic (disease-causing) variants in genes involved in DNA repair.
Ola Hammarsten, Anna Lyytikäinen, Sofia Thunström, Torben Ek, Anders Fasth, Olov Ekwall, Sara Cajander, Emilie Wahren Borgström, C. I. Edvard Smith, Pegah Johansson   +9 more
doaj   +1 more source

REPAIRtoire--a database of DNA repair pathways. [PDF]

, 2010
REPAIRtoire is the first comprehensive database resource for systems biology of DNA damage and repair. The database collects and organizes the following types of information: (i) DNA damage linked to environmental mutagenic and cytotoxic agents, (ii ...
Rother, Kristian, K. Poleszak, Papaj, Grzegorz, E. Osinska, Bujnicki, Janusz M, Lesiak, Justyna, G. Papaj, J. Lesiak, Milanowska, Kaja, J. Krwawicz, Kosinski, Jan, K. Rother, Krwawicz, Joanna, K. Milanowska, Poleszak, Katarzyna, Osinska, Ewelina, J. Kosinski, J. M. Bujnicki   +17 more
core   +1 more source

Function and Interactions of ERCC1-XPF in DNA Damage Response

Molecules, 2018
Numerous proteins are involved in the multiple pathways of the DNA damage response network and play a key role to protect the genome from the wide variety of damages that can occur to DNA.
Maryam Faridounnia, Gert E. Folkers, Rolf Boelens   +2 more
doaj   +1 more source

A human cancer-associated truncation of MBD4 causes dominant negative impairment of DNA repair in colon cancer cells [PDF]

, 2007
MBD4 binds to methylated DNA and acts as a thymine DNA glycosylase in base excision repair. Deficiency of MBD4 in mice enhances mutation at CpG sites and alters apoptosis in response to DNA damage, but does not increase tumorigenesis in mismatch repair ...
Bader, S A, S A Bader, D J Harrison, M Walker, Harrison, D J, Walker, M, Harrison, D J; id_orcid   +6 more
core   +1 more source

Functional Characterization of Excision Repair and RecA-Dependent Recombinational DNA Repair in Campylobacter jejuni [PDF]

, 2009
The presence and functionality of DNA repair mechanisms in Campylobacter jejuni are largely unknown. In silico analysis of the complete translated genome of C.
Dep Infectieziekten Immunologie, de Boer, A.G., Graaf-van Bloois, L., van der, Gaasbeek, E.J., Strategic Infection Biology, van Putten, J.P.M., van der Graaf-van Bloois, L., Boer, P., Wagenaar, J.A., Vermaning, B.J., van der Wal, F.J., Wal, F.J., van der, Putten, J.P.M., van, Boer, A.G., de   +13 more
core   +1 more source

Aicardi–Goutières syndrome with SAMHD1 deficiency can be diagnosed by unscheduled DNA synthesis test

Frontiers in Pediatrics, 2022
Aicardi–Goutières syndrome (AGS) is a rare genetic disorder characterised by progressive encephalopathy, involving microcephaly, intracranial calcification, and cerebrospinal fluid lymphocytosis with increased interferon-α concentrations.
Chikako Senju, Chikako Senju, Chikako Senju, Chikako Senju, Chikako Senju, Yuka Nakazawa, Yuka Nakazawa, Yuka Nakazawa, Mayuko Shimada, Mayuko Shimada, Mayuko Shimada, Dai Iwata, Dai Iwata, Michiko Matsuse, Katsumi Tanaka, Yasushi Miyazaki, Shinichi Moriwaki, Norisato Mitsutake, Tomoo Ogi, Tomoo Ogi, Tomoo Ogi   +20 more
doaj   +1 more source