Results 1 to 10 of about 117,669 (273)
Distinctive features of single nucleotide alterations in induced pluripotent stem cells with different types of DNA repair deficiency disorders [PDF]
Scientific Reports, 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 ...
Kohji Okamura +15 more
openaire +3 more sources
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 +2 more
doaj +1 more source
Frontiers in Molecular Neuroscience, 2021 Emerging studies reveal that neurodegenerative disorders, including amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), are commonly linked to DNA damage accumulation and repair deficiency.
Haibo Wang +6 more
doaj +1 more source
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 +3 more
openaire +2 more sources
Loss of urokinase receptor sensitizes cells to DNA damage and delays DNA repair. [PDF]
PLoS ONE, 2014 DNA damage induced by numerous exogenous or endogenous factors may have irreversible consequences on the cell leading to cell cycle arrest, senescence and cell death.
Pavan B Narayanaswamy +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 +1 more
doaj +1 more source
DNA Repair Syndromes and Cancer: Insights Into Genetics and Phenotype Patterns
Frontiers in Pediatrics, 2020 DNA damage response is essential to human physiology. A broad spectrum of pathologies are displayed by individuals carrying monoallelic or biallelic loss-of-function mutations in DNA damage repair genes. DNA repair syndromes with biallelic disturbance of
Richa Sharma +4 more
doaj +1 more source
BMC Biology, 2022 Background Neuropsychiatric disorders, such as schizophrenia (SZ) and autism spectrum disorder (ASD), are common, multi-factorial and multi-symptomatic disorders.
Flavia S. Mueller +8 more
doaj +1 more source
Creatine kinase brain-type regulates BCAR1 phosphorylation to facilitate DNA damage repair
iScience, 2023 Summary: Creatine kinase (CK) is an essential metabolic enzyme mediating creatine/phosphocreatine interconversion and shuttle to replenish ATP for energy needs. Ablation of CK causes a deficiency in energy supply that eventually results in reduced muscle
Bo Yang +6 more
doaj +1 more source
Frontiers in Immunology, 2022 We report two patients with DNA repair disorders (Artemis deficiency, Ataxia telangiectasia) with destructive skin granulomas, presumably triggered by live-attenuated rubella vaccinations. Both patients showed reduced naïve T cells.
Ulrich Baumann +22 more
doaj +1 more source