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xeroderma pigmentosum

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https://www.readbyqxmd.com/read/27908619/correlation-of-dna-repair-gene-polymorphisms-with-clinical-outcome-in-patients-with-locally-advanced-non-small-cell-lung-cancer-receiving-induction-chemotherapy-followed-by-surgery
#1
Mariacarmela Santarpia, Jose Luis Ramirez, Itziar de Aguirre, Pilar Garrido, Maria Pérez Cano, Cristina Queralt, Jose Luis Gonzalez-Larriba, Amelia Insa, Mariano Provencio, Dolores Isla, Carlos Camps, Remei Blanco, Teresa Moran, Rafael Rosell
OBJECTIVE: The aim of this study was to evaluate whether xeroderma pigmentosum group D (XPD) and ribonucleotide reductase subunit M1 (RRM1) polymorphisms influenced clinical outcome in patients with stage IIIA-B non-small-cell lung cancer (NSCLC) treated with neoadjuvant gemcitabine/cisplatin/docetaxel followed by surgery. MATERIALS AND METHODS: A total of 109 patients with stage IIIA and IIIB NSCLC were prospectively genotyped to examine a potential association between XPD 312 (aspartic acid [Asp]/asparagine [Asn]), XPD 751 (lysine [Lys]/glutamine [Gln]), and RRM1 (-37 C/A) polymorphisms with response and survival...
November 9, 2016: Clinical Lung Cancer
https://www.readbyqxmd.com/read/27904274/pretreatment-of-ferulic-acid-protects-human-dermal-fibroblasts-against-ultraviolet-a-irradiation
#2
Hyung Jin Hahn, Ki Bbeum Kim, Seunghee Bae, Byung Gon Choi, Sungkwan An, Kyu Joong Ahn, Su Young Kim
BACKGROUND: Approximately 90%~99% of ultraviolet A (UVA) ray reaches the Earth's surface. The deeply penetrating UVA rays induce the formation of reactive oxygen species (ROS), which results in oxidative stress such as photoproducts, senescence, and cell death. Thus, UVA is considered a primary factor that promotes skin aging. OBJECTIVE: Researchers investigated whether pretreatment with ferulic acid protects human dermal fibroblasts (HDFs) against UVA-induced cell damages...
December 2016: Annals of Dermatology
https://www.readbyqxmd.com/read/27873138/photo-enzymatic-repair-of-uvb-induced-dna-damage-in-the-two-spotted-spider-mite-tetranychus-urticae
#3
Yasumasa Murata, Masahiro Osakabe
Ambient ultraviolet-B (UVB) radiation induces lethal effects in the two-spotted spider mite Tetranychus urticae, whereas photoreactivation by irradiation with ultraviolet-A and visible light (VIS) plays an important role to increase survival of mites irradiated by UVB. The physiological mechanisms and ecological significance of photoreactivation in terrestrial arthropods have not been shown clearly. We verified the biological impact and accumulation of DNA lesions by UVB irradiation and the repair of them by photoreactivation in T...
November 21, 2016: Experimental & Applied Acarology
https://www.readbyqxmd.com/read/27861965/impact-of-the-circadian-clock-on-uv-induced-dna-damage-response-and-photocarcinogenesis
#4
Panshak Dakup, Shobhan Gaddameedhi
The skin is in constant exposure to various external environmental stressors, including solar ultraviolet (UV) radiation. Various wavelengths of UV light are absorbed by the DNA and other molecules in the skin to cause DNA damage and induce oxidative stress. The exposure to excessive ultraviolet (UV) radiation and/or accumulation of damage over time can lead to photocarcinogenesis and photoaging. The nucleotide excision repair (NER) system is the sole mechanism for removing UV photoproduct damage from DNA, and genetic disruption of this repair pathway leads to the photosensitive disorder xeroderma pigmentosum (XP)...
November 12, 2016: Photochemistry and Photobiology
https://www.readbyqxmd.com/read/27827925/transcriptional-and-posttranslational-regulation-of-nucleotide-excision-repair-the-guardian-of-the-genome-against-ultraviolet-radiation
#5
REVIEW
Jeong-Min Park, Tae-Hong Kang
Ultraviolet (UV) radiation from sunlight represents a constant threat to genome stability by generating modified DNA bases such as cyclobutane pyrimidine dimers (CPD) and pyrimidine-pyrimidone (6-4) photoproducts (6-4PP). If unrepaired, these lesions can have deleterious effects, including skin cancer. Mammalian cells are able to neutralize UV-induced photolesions through nucleotide excision repair (NER). The NER pathway has multiple components including seven xeroderma pigmentosum (XP) proteins (XPA to XPG) and numerous auxiliary factors, including ataxia telangiectasia and Rad3-related (ATR) protein kinase and RCC1 like domain (RLD) and homologous to the E6-AP carboxyl terminus (HECT) domain containing E3 ubiquitin protein ligase 2 (HERC2)...
November 4, 2016: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/27808039/neurodegeneration-in-accelerated-aging
#6
Moren Scheibye-Knudsen
The growing proportion of elderly people represents an increasing economic burden, not least because of age-associated diseases that pose a significant cost to the health service. Finding possible interventions to age-associated disorders therefore have wide ranging implications. A number of genetically defined accelerated aging diseases have been characterized that can aid in our understanding of aging. Interestingly, all these diseases are associated with defects in the maintenance of our genome. A subset of these disorders, Cockayne syndrome, Xeroderma pigmentosum group A and ataxia-telangiectasia, show neurological involvement reminiscent of what is seen in primary human mitochondrial diseases...
November 2016: Danish Medical Journal
https://www.readbyqxmd.com/read/27805905/analysis-of-drosophila-p8-and-p52-mutants-reveals-distinct-roles-for-the-maintenance-of-tfiih-stability-and-male-germ-cell-differentiation
#7
Grisel Cruz-Becerra, Mandy Juárez, Viviana Valadez-Graham, Mario Zurita
Eukaryotic gene expression is activated by factors that interact within complex machinery to initiate transcription. An important component of this machinery is the DNA repair/transcription factor TFIIH. Mutations in TFIIH result in three human syndromes: xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy. Transcription and DNA repair defects have been linked to some clinical features of these syndromes. However, how mutations in TFIIH affect specific developmental programmes, allowing organisms to develop with particular phenotypes, is not well understood...
October 2016: Open Biology
https://www.readbyqxmd.com/read/27794614/role-of-dna-repair-factor-xpc-in-response-to-replication-stress-revealed-by-dna-fragile-site-affinity-chromatography-and-quantitative-proteomics
#8
Lucie Beresova, Eva Vesela, Ivo Chamrád, Jiri Voller, Masayuki Yamada, Tomas Furst, Rene Lenobel, Katarina Chroma, Jan Gursky, Katerina Krizova, Martin Mistrik, Jiri Bartek
Replication stress (RS) fuels genomic instability and cancer development and may contribute to ageing, raising the need to identify factors involved in cellular responses to such stress. Here, we present a strategy for identification of factors affecting the maintenance of common fragile sites (CFSs), genomic loci that are particularly sensitive to RS and suffer from increased breakage and rearrangements in tumors. A DNA probe designed to match the high flexibility island sequence typical for the commonly expressed CFS (FRA16D) was used as specific DNA affinity bait...
October 30, 2016: Journal of Proteome Research
https://www.readbyqxmd.com/read/27785785/epidemiological-trends-and-clinicopathological-features-of-cutaneous-melanoma-in-sporadic-and-xeroderma-pigmentosum-tunisian-patients
#9
Chokri Naouali, Meriem Jones, Imen Nabouli, Manel Jerbi, Haifa Tounsi, Mariem Ben Rekaya, Melika Ben Ahmed, Balkiss Bouhaouala, Olfa Messaoud, Aida Khaled, Mohamed Zghal, Sonia Abdelhak, Samir Boubaker, Houda Yacoub-Youssef
BACKGROUND: Epidemiological features and trends of cutaneous melanoma (CM) in North-African populations remain unclear. Those populations are of particular interest as they belong to a mosaic of various other origins (sub-Saharan, European Ancestry, and North-African Berbers). The aim of this study is to draw epidemiological profile and clinicopathological features of CM in the Tunisian population. METHODS: Incidence analyses were based on data from regional cancer registries...
October 26, 2016: International Journal of Dermatology
https://www.readbyqxmd.com/read/27771451/two-mammalian-homologs-of-yeast-rad23-hr23a-and-hr23b-as-multifunctional-proteins
#10
REVIEW
Masayuki Yokoi, Fumio Hanaoka
Mammalian cells express two homologs of yeast Rad23, the so-called homolog of Rad23 (HR23) proteins. The HR23 proteins were identified more than two decades ago as factors involved in initiation of global genome nucleotide excision repair (GG-NER) along with their interacting partner, xeroderma pigmentosum group C (XPC) protein. Because the HR23 genes encode proteins harboring ubiquitin-like (UBL) domains at their N-termini and two ubiquitin-associated (UBA) domains in their central- and C-terminal regions, the link between HR23 proteins and proteolytic degradation has been widely explored by several methods, including yeast two-hybrid screening and co-affinity purification...
January 15, 2017: Gene
https://www.readbyqxmd.com/read/27768841/o6-2-deoxyguanosine-butylene-o6-2-deoxyguanosine-dna-interstrand-cross-links-are-replication-blocking-and-mutagenic-dna-lesions
#11
Wenyan Xu, Daniel Kool, Derek K O'Flaherty, Ashley Keating, Lauralicia Sacre, Martin Egli, Anne Marietta Noronha, Christopher James Wilds, Linlin Zhao
DNA interstrand cross-links (ICLs) are cytotoxic DNA lesions derived from reactions of DNA with a number of anti-cancer reagents as well as endogenous bifunctional electrophiles. Deciphering the DNA repair mechanisms of ICLs is important for understanding the toxicity of DNA cross-linking agents and for the development of effective chemotherapies. Previous research has focused on ICLs cross-linked with the N7 and N2 atoms of guanine as well as those formed at the N6 atom of adenine; however, little is known about the mutagenicity of O6-dG-derived ICLs...
October 21, 2016: Chemical Research in Toxicology
https://www.readbyqxmd.com/read/27745641/understanding-photodermatoses-associated-with-defective-dna-repair-syndromes-with-cancer-predisposition
#12
Cerrene N Giordano, Yik Weng Yew, Graciela Spivak, Henry W Lim
Hereditary photodermatoses are a spectrum of rare photosensitive disorders that are often caused by genetic deficiency or malfunction of various components of the DNA repair pathway. This results clinically in extreme photosensitivity, with many syndromes exhibiting an increased risk of cutaneous malignancies. This review will focus specifically on the syndromes with malignant potential, including xeroderma pigmentosum, Bloom syndrome, and Rothmund-Thomson syndrome. The typical phenotypic findings of each disorder will be examined and contrasted, including noncutaneous identifiers to aid in diagnosis...
November 2016: Journal of the American Academy of Dermatology
https://www.readbyqxmd.com/read/27735937/xab2-functions-in-mitotic-cell-cycle-progression-via-transcriptional-regulation-of-cenpe
#13
Shuai Hou, Na Li, Qian Zhang, Hui Li, Xinyue Wei, Tian Hao, Yue Li, Sikandar Azam, Caigang Liu, Wei Cheng, Bilian Jin, Quentin Liu, Man Li, Haixin Lei
Xeroderma pigmentosum group A (XPA)-binding protein 2 (XAB2) is a multi-functional protein that plays critical role in processes including transcription, transcription-coupled DNA repair, pre-mRNA splicing, homologous recombination and mRNA export. Microarray analysis on gene expression in XAB2 knockdown cells reveals that many genes with significant change in expression function in mitotic cell cycle regulation. Fluorescence-activated cell scanner analysis confirmed XAB2 depletion led to cell arrest in G2/M phase, mostly at prophase or prometaphase...
October 13, 2016: Cell Death & Disease
https://www.readbyqxmd.com/read/27705808/oxidative-stress-intensity-related-effects-of-cadmium-cd-and-paraquat-pq-on-uv-damaged-dna-binding-and-excision-repair-activities-in-zebrafish-danio-rerio-embryos
#14
Li-Bin Ling, Yung Chang, Chia-Wei Liu, Po-Ling Lai, Todd Hsu
Our earlier studies showed the inhibitory effects of cadmium (Cd) and paraquat (PQ) on the gene expression of DNA mismatch recognition proteins in zebrafish (Danio rerio) embryos. This study explored the effects of Cd and PQ on nucleotide excision repair (NER) capacity in zebrafish embryos. Exposure of embryos at 1 h post fertilization (hpf) to 3-5 μM Cd or 30-100 μM PQ for 9 h induced a 2-3-fold increase of oxidative stress, while a 6.5-fold increase of oxidative stress was induced by 200 μM PQ. Real-time RT-PCR detected a down-regulated xeroderma pigmentosum C (XPC) and an up-regulated UV-DDB2 gene expression in mildly-stressed embryos, whereas 8-oxoguanine DNA glycosylase (OGG1) gene expression increased with PQ exposure levels...
October 2, 2016: Chemosphere
https://www.readbyqxmd.com/read/27698911/xpg-gene-polymorphisms-contribute-to-colorectal-cancer-susceptibility-a-two-stage-case-control-study
#15
Rui-Xi Hua, Zhen-Jian Zhuo, Jinhong Zhu, Shao-Dan Zhang, Wen-Qiong Xue, Jiang-Bo Zhang, Hong-Mei Xu, Xi-Zhao Li, Pei-Fen Zhang, Jing He, Wei-Hua Jia
Previous studies have reported that xeroderma pigmentosum group G (XPG) gene polymorphisms may modulate colorectal cancer (CRC) susceptibility. In this study, we performed a two-stage case-control study to comprehensively investigate the associations of five polymorphisms in the XPG gene with CRC risk in 1,901 cases and 1,976 controls from Southern China, including rs2094258 C>T, rs751402 C>T, rs2296147 T>C, rs1047768 T>C and rs873601 G>A. After combining data from two stages, we found that three of the studied polymorphisms (rs2094258 C>T, rs751402 C>T, and rs873601 G>A) were significantly associated with CRC susceptibility...
2016: Journal of Cancer
https://www.readbyqxmd.com/read/27669310/association-of-xpc-gene-polymorphisms-with-colorectal-cancer-risk-in-a-southern-chinese-population-a-case-control-study-and-meta-analysis
#16
Rui-Xi Hua, Jinhong Zhu, Dan-Hua Jiang, Shao-Dan Zhang, Jiang-Bo Zhang, Wen-Qiong Xue, Xi-Zhao Li, Pei-Fen Zhang, Jing He, Wei-Hua Jia
Xeroderma pigmentosum group C (XPC) is a key component of the nucleotide excision repair (NER) pathway. Dysfunctional XPC protein may impair NER-mediated DNA repair capacity and further lead to genomic instability and carcinogenesis. Two common nonsynonymous polymorphisms in the XPC gene, Lys939Gln (rs2228001 A > C) and Ala499Val (rs2228000 C > T), have been investigated in various types of cancer. We genotyped these two polymorphisms in 1141 cases with histologically confirmed colorectal cancer (CRC) and 1173 healthy controls to explore their causative association with CRC susceptibility...
2016: Genes
https://www.readbyqxmd.com/read/27664908/a-genetic-cluster-of-xeroderma-pigmentosum-variant-patients-with-two-different-founder-mutations
#17
V Munford, L P Castro, R Souto, L K Lerner, J Brandstetter Vilar, C Quayle, H Asif, A P Schuch, T A de Souza, S Ienne, F I A Alves, L M S Moura, P A V Galante, A A Camargo, R Liboredo, S D J Pena, A Sarasin, S C Chaibub, C F M Menck
BACKGROUND: Xeroderma pigmentosum (XP) is a rare human syndrome associated with hypersensitivity to sunlight and a high frequency of skin tumors at an early age. We identified a community in the state of Goias (central Brazil), a very sunny and tropical region, with a high incidence of XP (17 patients among approximately 1,000 inhabitants). OBJECTIVES: To identify the gene mutations in the affected community and map the distribution of the affected alleles, correlating the mutations with clinical phenotypes...
September 24, 2016: British Journal of Dermatology
https://www.readbyqxmd.com/read/27660069/molecular-mechanisms-of-xeroderma-pigmentosum-xp-proteins
#18
Sandra C Koch, Nina Simon, Charlotte Ebert, Thomas Carell
Nucleotide excision repair (NER) is a highly versatile and efficient DNA repair process, which is responsible for the removal of a large number of structurally diverse DNA lesions. Its extreme broad substrate specificity ranges from DNA damages formed upon exposure to ultraviolet radiation to numerous bulky DNA adducts induced by mutagenic environmental chemicals and cytotoxic drugs used in chemotherapy. Defective NER leads to serious diseases, such as xeroderma pigmentosum (XP). Eight XP complementation groups are known of which seven (XPA-XPG) are caused by mutations in genes involved in the NER process...
January 2016: Quarterly Reviews of Biophysics
https://www.readbyqxmd.com/read/27659786/lentiginous-phenotypes-caused-by-diverse-pathogenic-genes-sash1-and-ptpn11-clinical-and-molecular-discrimination
#19
J Zhang, R Cheng, J Liang, C Ni, M Li, Z Yao
Pathogenic mutations in genes (SASH1 and PTPN11) can cause a rare genetic disorder associated with pigmentation defects and the well-known LEOPARD syndrome, respectively. Both conditions presented with lentiginous phenotypes. The aim of this study was to arrive at definite diagnoses of three Chinese boys with clinically suspected lentigines-related syndromes. ADAR1, ABCB6, SASH1 and PTPN11 were candidate genes for mutational screening. Sanger sequencing was performed to identify the mutations, whereas bioinformatic analysis was used to predict the pathogenicity of novel missense mutations...
October 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27624574/parp10-deficiency-manifests-by-severe-developmental-delay-and-dna-repair-defect
#20
Maher Awni Shahrour, Claudia M Nicolae, Simon Edvardson, Motee Ashhab, Adri M Galvan, Daniel Constantin, Bassam Abu-Libdeh, George-Lucian Moldovan, Orly Elpeleg
DNA repair mechanisms such as nucleotide excision repair (NER) and translesion synthesis (TLS) are dependent on proliferating cell nuclear antigen (PCNA), a DNA polymerase accessory protein. Recently, homozygosity for p.Ser228Ile mutation in the PCNA gene was reported in patients with neurodegeneration and impaired NER. Using exome sequencing, we identified a homozygous deleterious mutation, c.648delAG, in the PARP10 gene, in a patient suffering from severe developmental delay. In agreement, PARP10 protein was absent from the patient cells...
October 2016: Neurogenetics
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