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https://www.readbyqxmd.com/read/28327556/control-of-structure-specific-endonucleases-to-maintain-genome-stability
#1
REVIEW
John Maciejowski, Pierre-Henri L Gaillard
Structure-specific endonucleases (SSEs) have key roles in DNA replication, recombination and repair, and emerging roles in transcription. These enzymes have specificity for DNA secondary structure rather than for sequence, and therefore their activity must be precisely controlled to ensure genome stability. In this Review, we discuss how SSEs are controlled as part of genome maintenance pathways in eukaryotes, with an emphasis on the elaborate mechanisms that regulate the members of the major SSE families - including the xeroderma pigmentosum group F-complementing protein (XPF) and MMS and UV-sensitive protein 81 (MUS81)-dependent nucleases, and the flap endonuclease 1 (FEN1), XPG and XPG-like endonuclease 1 (GEN1) enzymes - during processes such as DNA adduct repair, Holliday junction processing and replication stress...
March 22, 2017: Nature Reviews. Molecular Cell Biology
https://www.readbyqxmd.com/read/28314991/xpg-genetic-polymorphisms-and-clinical-outcome-of-patients-with-advanced-non-small-cell-lung-cancer-under-platinum-based-treatment-a-meta-analysis-of-12-studies
#2
Tianxin Xiang, Xiuhua Kang, Zhenghua Gong, Wei Bai, Chuanhui Chen, Wei Zhang
PURPOSE: A number of studies on the relationship between xeroderma pigmentosum group G (XPG) polymorphisms and clinical outcomes in non-small cell cancer (NSCLC) have led to inconclusive results. This meta-analysis evaluates the predictive value of XPG polymorphisms on the treatment response rate and overall survival of patients with NSCLC. METHODS: To measure the correlative strength of the relationship between XPG polymorphisms and outcomes of patients with NSCLC, we searched electronic databases, including PubMed and China National Knowledge Infrastructure, to retrieve studies up to August 2016...
March 17, 2017: Cancer Chemotherapy and Pharmacology
https://www.readbyqxmd.com/read/28297142/vismodegib-therapy-for-basal-cell-carcinoma-in-an-8-year-old-chinese-boy-with-xeroderma-pigmentosum
#3
Douglas Fife, Marko A Laitinen, David J Myers, Pamela B Landsteiner
Vismodegib is an oral inhibitor of the Hedgehog signaling pathway and has been used to treat basal cell carcinoma (BCC) in adults. This article reports clearance of a nodular BCC of the nasal tip in an 8-year-old boy with xeroderma pigmentosum (XP). BCC can pose therapeutic challenges when located in areas that are not amenable to traditional therapies such as Mohs micrographic surgery or topical agents. Vismodegib was used at a dose of 150 mg/day to treat the boy's BCC. After 4 months of therapy, we achieved complete clinical clearance...
March 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/28273955/lack-of-xpc-leads-to-a-shift-between-respiratory-complexes-i-and-ii-but-sensitizes-cells-to-mitochondrial-stress
#4
Mateus P Mori, Rute A P Costa, Daniela T Soltys, Thiago de S Freire, Franco A Rossato, Ignácio Amigo, Alicia J Kowaltowski, Aníbal E Vercesi, Nadja C de Souza-Pinto
Genomic instability drives tumorigenesis and DNA repair defects are associated with elevated cancer. Metabolic alterations are also observed during tumorigenesis, although a causal relationship between these has not been clearly established. Xeroderma pigmentosum (XP) is a DNA repair disease characterized by early cancer. Cells with reduced expression of the XPC protein display a metabolic shift from OXPHOS to glycolysis, which was linked to accumulation of nuclear DNA damage and oxidants generation via NOX-1...
December 2017: Scientific Reports
https://www.readbyqxmd.com/read/28255305/xeroderma-pigmentosum-with-severe-neurological-manifestations-de-sanctis-cacchione-syndrome-and-a-novel-xpc-mutation
#5
Esteban Uribe-Bojanini, Sara Hernandez-Quiceno, Alicia María Cock-Rada
Several genetic disorders caused by defective nucleotide excision repair that affect the skin and the nervous system have been described, including Xeroderma Pigmentosum (XP), De Sanctis-Cacchione syndrome (DSC), Cockayne syndrome, and Trichothiodystrophy. Cutaneous photosensitivity with an increased risk of skin malignancy is a common feature of these disorders, but clinical manifestations commonly overlap these syndromes. Several genes have been found to be altered in these pathologies, but we lack more genotype-phenotype correlations in order to make an accurate diagnosis...
2017: Case Reports in Medicine
https://www.readbyqxmd.com/read/28239347/hearing-dysfunction-in-xpa-deficient-mice
#6
Hitomi Shinomiya, Daisuke Yamashita, Takeshi Fujita, Eiji Nakano, Go Inokuchi, Shingo Hasegawa, Naoki Otsuki, Chikako Nishigori, Ken-Ichi Nibu
Xeroderma pigmentosum (XP) is a rare recessive heredity disease caused by DNA repair impairment characterized by photosensitivity and neurologic symptoms in half of the cases. There are eight subtypes of XP: XP-A-XP-G and XP variant. Among eight subtypes, XP complementation group A (XP-A) display the lowest DNA repair ability and the severest cutaneous and neurologic symptoms. While its pathogenesis of skin symptoms have been well-studied, that of neurological symptoms, including sensorineural hearing loss (SNHL) remains unknown...
2017: Frontiers in Aging Neuroscience
https://www.readbyqxmd.com/read/28238438/arid2-modulates-dna-damage-response-in-human-hepatocellular-carcinoma-cells
#7
Atsushi Oba, Shu Shimada, Yoshimitsu Akiyama, Taketo Nishikawaji, Kaoru Mogushi, Hiromitsu Ito, Satoshi Matsumura, Arihiro Aihara, Yusuke Mitsunori, Daisuke Ban, Takanori Ochiai, Atsushi Kudo, Hiroshi Asahara, Atsushi Kaida, Masahiko Miura, Minoru Tanabe, Shinji Tanaka
BACKGROUND & AIMS: Recent genomic studies have identified frequent mutations of AT-rich interactive domain 2 (ARID2) in hepatocellular carcinoma (HCC), but it is not still understood how ARID2 exhibits tumor suppressor activities. METHODS: We established the ARID2 knockout human HCC cell lines by using CRISPR/Cas9 system, and investigated the gene expression profiles and biological functions. RESULTS: Bioinformatic analysis indicated that UV-response genes were negatively regulated in the ARID2 knockout cells, and they were sensitized to UV irradiation...
February 23, 2017: Journal of Hepatology
https://www.readbyqxmd.com/read/28144106/multiple-cutaneous-malignancies-in-a-child-with-xeroderma-pigmentosum-a-case-report
#8
Rita V Vora, RahulKrishna SureshKumar Kota, Nilofar G Diwan
No abstract text is available yet for this article.
October 2016: Indian Journal of Medical and Paediatric Oncology
https://www.readbyqxmd.com/read/28130555/xpf-knockout-via-crispr-cas9-reveals-that-ercc1-is-retained-in-the-cytoplasm-without-its-heterodimer-partner-xpf
#9
Janin Lehmann, Christina Seebode, Sabine Smolorz, Steffen Schubert, Steffen Emmert
The XPF/ERCC1 heterodimeric complex is essentially involved in nucleotide excision repair (NER), interstrand crosslink (ICL), and double-strand break repair. Defects in XPF lead to severe diseases like xeroderma pigmentosum (XP). Up until now, XP-F patient cells have been utilized for functional analyses. Due to the multiple roles of the XPF/ERCC1 complex, these patient cells retain at least one full-length allele and residual repair capabilities. Despite the essential function of the XPF/ERCC1 complex for the human organism, we successfully generated a viable immortalised human XPF knockout cell line with complete loss of XPF using the CRISPR/Cas9 technique in fetal lung fibroblasts (MRC5Vi cells)...
January 27, 2017: Cellular and Molecular Life Sciences: CMLS
https://www.readbyqxmd.com/read/28120709/dna-damaging-anticancer-drugs-a-perspective-for-dna-repair-oriented-therapy
#10
Janusz Blasiak
DNA-damaging drugs in cancer present two main problems: therapeutic resistance and side effects and both can associate with DNA repair, which can be targeted in cancer therapy. Bleomycin (BLM) induces complex DNA damages, including strand breaks, base loss and 3'-phosphoglycolate (3'PG) residues repaired by several pathways, but 3'PGs must be processed to the 3'-OH ends, usually by tyrosyl-DNA phosphodiesterase 1 (Tdp1). Therefore, targeting Tdp1 can improve anticancer therapy with BLM. Mitomycin C (MMC) produces a variety of adducts with DNA, including inter-strand cross-links (ICLs) and Xeroderma pigmentosum (XP) proteins, including XPG, XPE and XPF can be crucial for the initial stage of ICL repair, so they can be targeted by inhibitors to increase toxicity of MMC in cancer cells...
January 24, 2017: Current Medicinal Chemistry
https://www.readbyqxmd.com/read/28115629/a-novel-role-for-transcription-coupled-nucleotide-excision-repair-for-the-in-vivo-repair-of-3-n4-ethenocytosine
#11
Isaac A Chaim, Alycia Gardner, Jie Wu, Teruaki Iyama, David M Wilson, Leona D Samson
Etheno (ε) DNA base adducts are highly mutagenic lesions produced endogenously via reactions with lipid peroxidation (LPO) products. Cancer-promoting conditions, such as inflammation, can induce persistent oxidative stress and increased LPO, resulting in the accumulation of ε-adducts in different tissues. Using a recently described fluorescence multiplexed host cell reactivation assay, we show that a plasmid reporter bearing a site-specific 3,N(4)-ethenocytosine (εC) causes transcriptional blockage. Notably, this blockage is exacerbated in Cockayne Syndrome and xeroderma pigmentosum patient-derived lymphoblastoid and fibroblast cells...
January 23, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/28109890/sunlight-damage-to-cellular-dna-focus-on-oxidatively-generated-lesions
#12
REVIEW
André Passaglia Schuch, Natália Cestari Moreno, Natielen Jacques Schuch, Carlos Frederico Martins Menck, Camila Carrião Machado Garcia
The routine and often unavoidable exposure to solar ultraviolet (UV) radiation makes it one of the most significant environmental DNA-damaging agents to which humans are exposed. Sunlight, specifically UVB and UVA, triggers various types of DNA damage. Although sunlight, mainly UVB, is necessary for the production of vitamin D, which is necessary for human health, DNA damage may have several deleterious consequences, such as cell death, mutagenesis, photoaging and cancer. UVA and UVB photons can be directly absorbed not only by DNA, which results in lesions, but also by the chromophores that are present in skin cells...
January 18, 2017: Free Radical Biology & Medicine
https://www.readbyqxmd.com/read/28098755/exopolysaccharides-isolated-from-milk-fermented-with-lactic-acid-bacteria-prevent-ultraviolet-induced-skin-damage-in-hairless-mice
#13
Masashi Morifuji, Masami Kitade, Tomoyuki Fukasawa, Taketo Yamaji, Masamitsu Ichihashi
BACKGROUND: We studied the mechanism by which fermented milk ameliorates UV-B-induced skin damage and determined the active components in milk fermented with lactic acid bacteria by evaluating erythema formation, dryness, epidermal proliferation, DNA damage and cytokine mRNA levels in hairless mice exposed to acute UV-B irradiation. METHODS: Nine week-old hairless mice were given fermented milk (1.3 g/kg BW/day) or exopolysaccharide (EPS) concentrate (70 mg/kg BW/day) orally for ten days...
January 13, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28074905/mir-488-inhibits-proliferation-and-cisplatin-sensibility-in-non-small-cell-lung-cancer-nsclc-cells-by-activating-the-eif3a-mediated-ner-signaling-pathway
#14
Chao Fang, Yi-Xin Chen, Na-Yiyuan Wu, Ji-Ye Yin, Xiang-Ping Li, Hsuan-Shun Huang, Wei Zhang, Hong-Hao Zhou, Zhao-Qian Liu
Our previous studied indicated that eukaryotic translation initiation factor 3a (eIF3a) increases the sensitive of platinum-based chemotherapy in lung cancer. MiRNAs play an important role in lung carcinogenesis and drug response. In this study, we aimed to identify potential endogenous miRNAs that inhibit eIF3a expression and determine their influence of this inhibition on cisplatin resistance. Using bioinformatics analysis prediction and confirmation with dual-luciferase reporter assays, we found that miRNA-488 inhibited eIF3a expression by directly binding to the 3'UTR of eIF3a...
January 11, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28056182/noise-stress-induces-an-epidermal-growth-factor-receptor-xeroderma-pigmentosum-a-response-in-the-auditory-nerve
#15
O'neil W Guthrie
In response to toxic stressors, cancer cells defend themselves by mobilizing one or more epidermal growth factor receptor (EGFR) cascades that employ xeroderma pigmentosum-A (XPA) to repair damaged genes. Recent experiments discovered that neurons within the auditory nerve exhibit basal levels of EGFR+XPA co-expression. This finding implied that auditory neurons in particular or neurons in general have the capacity to mobilize an EGFR+XPA defense. Therefore, the current study tested the hypothesis that noise stress would alter the expression pattern of EGFR/XPA within the auditory nerve...
March 2017: Journal of Histochemistry and Cytochemistry: Official Journal of the Histochemistry Society
https://www.readbyqxmd.com/read/28054914/detailed-audiological-evaluation-of-a-patient-with-xeroderma-pigmentosum-with-neural-degeneration
#16
Danielle Mercer, Annette Hurley, Fern Tsien
BACKGROUND: Xeroderma pigmentosum (XP) is a rare autosomal recessive condition characterized by extreme sensitivity to ultraviolet light. Individuals with XP lack the ability to repair DNA (deoxyribonucleic acid) damage caused by ultraviolet radiation, leading to sunburn and increased susceptibility to skin cancers. Approximately 25% of patients also exhibit neural degeneration, which includes progressive mental deterioration, cortical thinning, and sensorineural hearing loss. PURPOSE: Herein, we describe the audiological and genetic findings in a patient with XP subtype D with neural degeneration and hearing loss...
January 2017: Journal of the American Academy of Audiology
https://www.readbyqxmd.com/read/28011151/the-cyclopurine-deoxynucleosides-dna-repair-biological-effects-mechanistic-insights-and-unanswered-questions
#17
REVIEW
Philip J Brooks
Patients with the genetic disease xeroderma pigmentosum (XP) who lack the capacity to carry out nucleotides excision repair (NER) have a dramatically elevated risk of skin cancer on sun exposed areas of the body. NER is the DNA repair mechanism responsible for the removal of DNA lesions resulting from ultraviolet light. In addition, a subset of XP patients develop a progressive neurodegenerative disease, referred to as XP neurologic disease, which is thought to be the result of accumulation of endogenous DNA lesions that are repaired by NER but not other repair pathways...
December 21, 2016: Free Radical Biology & Medicine
https://www.readbyqxmd.com/read/27990405/camouflage-in-xeroderma-pigmentosum
#18
Gayathri Krishnaswamy, Swetha Sunny Kurian, C R Srinivas, L Sorna Kumar
No abstract text is available yet for this article.
November 2016: Indian Dermatology Online Journal
https://www.readbyqxmd.com/read/27982466/expansion-of-the-genotypic-and-phenotypic-spectrum-of-xeroderma-pigmentosum-in-chinese-population
#19
Jia Zhang, Ruhong Cheng, Xia Yu, Zhonghui Sun, Ming Li, Zhirong Yao
BACKGROUND: Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by exaggerated sunburn reactions, freckle-like pigmentation, and a high possibility of developing cutaneous tumors. XP comprised seven complementation groups (from XP-A to XP-G) and a variant form XP-V. METHODS: This study was based on five unrelated Chinese families with six patients clinically suspected to be XP. Mutation screening was performed by direct sequencing of the entire coding region of eight XP genes...
January 2017: Photodermatology, Photoimmunology & Photomedicine
https://www.readbyqxmd.com/read/27973674/white-scale-sign-for-xeroderma
#20
Amrei Klemmer, Florian Anzengruber, Dmitry Kazakov, Alexander A Navarini
No abstract text is available yet for this article.
December 14, 2016: JAMA Dermatology
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