keyword
MENU ▼
Read by QxMD icon Read
search

xeroderma pigmentosum

keyword
https://www.readbyqxmd.com/read/29683386/coupling-between-nucleotide-excision-repair-and-gene-expression
#1
Adrián E Cambindo Botto, Juan C Muñoz, Manuel J Muñoz
Gene expression and DNA repair are fundamental processes for life. During the last decade, accumulating experimental evidence point towards different modes of coupling between these processes. Here we discuss the molecular mechanisms by which RNAPII-dependent transcription affects repair by the Nucleotide Excision Repair system (NER) and how NER activity, through the generation of single stranded DNA intermediates and activation of the DNA damage response kinase ATR, drives gene expression in a genotoxic scenario...
April 23, 2018: RNA Biology
https://www.readbyqxmd.com/read/29683380/diverse-roles-of-rad18-and-y-family-dna-polymerases-in-tumorigenesis
#2
Yang Yang, Yanzhe Gao, Anastasia Zlatanou, Satoshi Tateishi, Vyacheslav Yurchenko, Igor B Rogozin, Cyrus Vaziri
Mutagenesis is a hallmark and enabling characteristic of cancer cells. The E3 ubiquitin ligase RAD18 and its downstream effectors, the 'Y-family' Trans-Lesion Synthesis (TLS) DNA polymerases, confer DNA damage tolerance at the expense of DNA replication fidelity. Thus, RAD18 and TLS polymerases are attractive candidate mediators of mutagenesis and carcinogenesis. The skin cancer-propensity disorder xeroderma pigmentosum-variant (XPV) is caused by defects in the Y-family DNA polymerase Pol eta (Polη). However it is unknown whether TLS dysfunction contributes more generally to other human cancers...
April 23, 2018: Cell Cycle
https://www.readbyqxmd.com/read/29660033/phosphorylation-of-xeroderma-pigmentosum-group-c-regulates-ultraviolet-induced-dna-damage-repair
#3
Palak Shah, Baozhong Zhao, Lei Qiang, Yu-Ying He
Nucleotide excision repair (NER) is the most versatile DNA repair system that removes bulky DNA damage induced by various endogenous and exogenous factors, including UV radiation. Defects in NER can lead to the xeroderma pigmentosum (XP) syndrome, mainly characterized by increased carcinogenesis in the skin. The function of NER factors, including xeroderma pigmentosum group C (XPC), can be regulated by post-translational modifications such as ubiquitination. However, the role of phosphorylation in XPC function remains unknown...
April 6, 2018: Nucleic Acids Research
https://www.readbyqxmd.com/read/29616226/xpd-the-lynchpin-of-ner-molecule-gene-polymorphisms-and-role-in-colorectal-carcinogenesis
#4
REVIEW
Aga Syed Sameer, Saniya Nissar
In mammals the bulky DNA adduct lesions known to result in deleterious phenotypes are acted upon and removed from the genomic DNA by nucleotide excision repair (NER) pathway. TFIIH multi-protein complex with its important helicase-Xeroderma Pigmentosum Protein (XPD) serves as the pivotal factor for opening up of the damaged lesion DNA site and carry out the repair process. The initial damage verification step of the TFIIH is in part dependent upon the helicase activity of XPD. Besides, XPD is also actively involved in the initiation steps of transcription and in the regulation of the cell cycle and apoptosis...
2018: Frontiers in Molecular Biosciences
https://www.readbyqxmd.com/read/29616110/overexpression-of-xeroderma-pigmentosum-group-c-decreases-the-chemotherapeutic-sensitivity-of-colorectal-carcinoma-cells-to-cisplatin
#5
Yi Zhang, Jia Cao, Yanni Meng, Chunying Qu, Feng Shen, Leiming Xu
Xeroderma pigmentosum group C (XPC) is a DNA-damage-recognition gene active at the early stage of DNA repair. XPC also participates in regulation of cell-cycle checkpoint and DNA-damage-induced apoptosis. In the present study, the expression levels of genes involved in nucleotide excision repair (NER) were assessed in human colorectal cancer (CRC) tissue. This analysis revealed that expression of XPC mRNA significantly increased in colorectal carcinoma tissues compared with matched normal controls. Expression of XPC gradually increased along with the degree of progression of CRC...
May 2018: Oncology Letters
https://www.readbyqxmd.com/read/29602950/arsenic-containing-hydrocarbons-effects-on-gene-expression-epigenetics-and-biotransformation-in-hepg2-cells
#6
S M Müller, H Finke, F Ebert, J F Kopp, F Schumacher, B Kleuser, K A Francesconi, G Raber, T Schwerdtle
Arsenic-containing hydrocarbons (AsHCs), a subgroup of arsenolipids found in fish and algae, elicit substantial toxic effects in various human cell lines and have a considerable impact on cellular energy levels. The underlying mode of action, however, is still unknown. The present study analyzes the effects of two AsHCs (AsHC 332 and AsHC 360) on the expression of 44 genes covering DNA repair, stress response, cell death, autophagy, and epigenetics via RT-qPCR in human liver (HepG2) cells. Both AsHCs affected the gene expression, but to different extents...
March 30, 2018: Archives of Toxicology
https://www.readbyqxmd.com/read/29569758/xpc-gene-mutations-in-families-with-xeroderma-pigmentosum-from-pakistan-prevalent-founder-effect
#7
Ambreen Ijaz, Sulman Basit, Ajab Gul, Lilas Batool, Abrar Hussain, Sibtain Afzal, Khushnooda Ramzan, Jamil Ahmad, Abdul Wali
Xeroderma Pigmentosum (XP) is a rare autosomal recessive skin disorder characterized by hyperpigmentation, premature skin aging, ocular and cutaneous photosensitivity and increased risk of skin carcinoma. We investigated seven consanguineous XP families with nine patients from Pakistan. All the Patients exhibited typical clinical symptoms of XP since first year of life. Whole genome SNP genotyping identified a 14Mb autozygous region segregating with the disease phenotype on chromosome 3p25.1. DNA sequencing of XPC gene revealed a founder homozygous splice site mutation (c...
March 23, 2018: Congenital Anomalies
https://www.readbyqxmd.com/read/29556276/xpa-expression-is-a-predictive-marker-of-the-effectiveness-of-neoadjuvant-chemotherapy-for-locally-advanced-uterine-cervical-cancer
#8
Takuma Wada, Takeshi Fukuda, Masahiro Shimomura, Yuta Inoue, Masaru Kawanishi, Reiko Tasaka, Tomoyo Yasui, Kazuo Ikeda, Toshiyuki Sumi
The standard treatment for locally advanced uterine cervical cancer is concurrent chemoradiotherapy. Successful neoadjuvant chemotherapy (NAC) may reduce tumor size and facilitate a hysterectomy, thereby improving the prognosis for patients with locally advanced cervical cancer. In contrast, unsuccessful NAC may worsen the prognosis because if a hysterectomy is not possible, the change in treatment plan may delay the initiation of core treatment. Therefore, there is a need to identify biomarkers that predict the efficacy of NAC in patients with uterine cervical cancer...
March 2018: Oncology Letters
https://www.readbyqxmd.com/read/29516319/association-of-xpa-polymorphisms-towards-lung-cancer-susceptibility-and-its-predictive-role-in-overall-survival-of-north-indians
#9
Shweta Lawania, Navneet Singh, Digambar Behera, Siddharth Sharma
The present study investigated the role of Xeroderma pigmentosum group A (XPA) polymorphism (A23G and G709A) with lung cancer risk and its association with overall survival in North Indians. 370 cases and 370 controls were investigated to evaluate association between XPA polymorphism (A23G and G709A) with lung cancer risk using logistic regression analysis. A follow-up study was also conducted for 291 lung cancer cases illustrating correlation between overall survival in lung cancer patients and XPA variants...
March 7, 2018: Biochemical Genetics
https://www.readbyqxmd.com/read/29474070/molecular-mechanism-dynamics-and-energetics-of-protein-mediated-dinucleotide-flipping-in-a-mismatched-dna-a-computational-study-of-rad4-dna-complex
#10
Kartheek Pitta, Marimuthu Krishnan
DNA damages alter genetic information and adversely affect gene expression pathways leading to various complex genetic disorders and cancers. DNA repair proteins recognize and rectify DNA damages with high fidelity. A critical molecular event that occurs during most protein-mediated DNA repair processes is the extrusion of orphaned bases at the damaged site facilitated by specific repairing enzymes. The molecular-level understanding of the mechanism, dynamics, and energetics of base extrusion is necessary to elucidate the molecular basis of protein-mediated DNA damage repair...
February 23, 2018: Journal of Chemical Information and Modeling
https://www.readbyqxmd.com/read/29453475/basal-cell-carcinoma-in-cases-with-or-without-xeroderma-pigmentosum
#11
Dilasma Ghartimagar, Arnab Ghosh, Sushil Ram Shrestha, Sachet Shrestha, Sushma Thapa, Raghavan Narasimhan, O P Talwar
INTRODUCTION: Basal cell carcinoma is the most common form of cancer in humans and comprises the vast majority of skin cancers. It predominantly affects fair-skinned individuals, and its incidence is rapidly increasing. The objective of the study is to identify the epidemiology, its topography and different histological subtypes of basal cell carcinoma in patients with or without Xeroderma Pigmentosum. METHODS: A cross-sectional descriptive study was conducted at Manipal Teaching Hospital, Pokhara from Jan 2009 to Dec 2016...
October 2017: JNMA; Journal of the Nepal Medical Association
https://www.readbyqxmd.com/read/29419527/nonmelanoma-skin-cancer-in-saudi-arabia-single-center-experience
#12
Sarah Abdullah AlSalman, Tuqa Morad Alkaff, Tariq Alzaid, Yousef Binamer
BACKGROUND: Skin cancer is the most common cancer worldwide; one in every three diagnosed malignancies is a skin cancer. However, skin cancer is rarely reported in Saudi Arabia so we conducted this study to highlight these underreported neoplasms. OBJECTIVES: Determine the prevalence and patterns of basal cell carcinoma (BCC) and primary squamous cell carcinoma (SCC), the most common types of nonmelanoma skin cancer (NMSC) with respect to age, sex, and anatomic location and to identify potentially associated risk factors...
January 2018: Annals of Saudi Medicine
https://www.readbyqxmd.com/read/29416673/splice-variants-of-the-endonucleases-xpf-and-xpg-contain-residual-dna-repair-capabilities-and-could-be-a-valuable-tool-for-personalized-medicine
#13
Janin Lehmann, Steffen Schubert, Christina Seebode, Antje Apel, Andreas Ohlenbusch, Steffen Emmert
The two endonucleases XPF and XPG are essentially involved in nucleotide excision repair (NER) and interstrand crosslink (ICL) repair. Defects in these two proteins result in severe diseases like xeroderma pigmentosum (XP). We applied our newly CRISPR/Cas9 generated human XPF knockout cell line with complete loss of XPF and primary fibroblasts from an XP-G patient (XP20BE) to analyze until now uncharacterized spontaneous mRNA splice variants of these two endonucleases. Functional analyses of these variants were performed using luciferase-based reporter gene assays...
January 2, 2018: Oncotarget
https://www.readbyqxmd.com/read/29413806/a-quantitative-pcr-based-assay-reveals-that-nucleotide-excision-repair-plays-a-predominant-role-in-the-removal-of-dna-protein-crosslinks-from-plasmids-transfected-into-mammalian-cells
#14
Lisa N Chesner, Colin Campbell
DNA-protein crosslinks (DPCs) are complex DNA lesions that induce mutagenesis and cell death. DPCs are created by common antitumor drugs, reactive oxygen species, and endogenous aldehydes. Since these agents create other types of DNA damage in addition to DPCs, identification of the mechanisms of DPC repair is challenging. In this study, we created plasmid substrates containing site-specific DPC lesions, as well as plasmids harboring lesions that are selectively repaired by the base excision or nucleotide excision repair (NER) pathways...
January 9, 2018: DNA Repair
https://www.readbyqxmd.com/read/29403087/cerebellar-ataxia-dominant-phenotype-in-patients-with-ercc4-mutations
#15
Hiroshi Doi, Shigeru Koyano, Satoko Miyatake, Shinji Nakajima, Yuka Nakazawa, Misako Kunii, Atsuko Tomita-Katsumoto, Kayoko Oda, Yukie Yamaguchi, Ryoko Fukai, Shingo Ikeda, Rumiko Kato, Katsuhisa Ogata, Shun Kubota, Noriko Hayashi, Keita Takahashi, Mikiko Tada, Kenichi Tanaka, Mitsuko Nakashima, Yoshinori Tsurusaki, Noriko Miyake, Hirotomo Saitsu, Tomoo Ogi, Michiko Aihara, Hideyuki Takeuchi, Naomichi Matsumoto, Fumiaki Tanaka
Autosomal recessive cerebellar ataxias (ARCAs) are clinically and genetically heterogeneous neurological disorders. Through whole-exome sequencing of Japanese ARCA patients, we identified three index patients from unrelated families who had biallelic mutations in ERCC4. ERCC4 mutations have been known to cause xeroderma pigmentosum complementation group F (XP-F), Cockayne syndrome, and Fanconi anemia phenotypes. All of the patients described here showed very slowly progressive cerebellar ataxia and cognitive decline with choreiform involuntary movement, with young adolescent or midlife onset...
February 5, 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29401586/polyq-expanded-huntingtin-and-ataxin-3-sequester-ubiquitin-adaptors-hhr23b-and-ubqln2-into-aggregates-via-conjugated-ubiquitin
#16
Hui Yang, Hong-Wei Yue, Wen-Tian He, Jun-Ye Hong, Lei-Lei Jiang, Hong-Yu Hu
The components of ubiquitin (Ub)-proteasome system, such as Ub, Ub adaptors, or proteasome subunits, are commonly accumulated with the aggregated proteins in inclusions, but how protein aggregates sequester Ub-related proteins remains elusive. Using N-terminal huntingtin (Htt-N552) and ataxin (Atx)-3 as model proteins, we investigated the molecular mechanism underlying sequestration of Ub adaptors by polyQ-expanded proteins. We found that polyQ-expanded Htt-N552 and Atx-3 sequester endogenous Ub adaptors, human RAD23 homolog B (hHR23B) and ubiquilin (UBQLN)-2, into inclusions...
January 11, 2018: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/29377344/reversed-actinic-damage-in-two-children-with-xeroderma-pigmentosum-treated-with-topical-imiquimod
#17
LETTER
I Latour, A Hernández-Martín, C Ged, N Knöpfel, A Taïeb, A Torrelo
No abstract text is available yet for this article.
January 29, 2018: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/29376097/xeroderma-pigmentosum-is-a-definite-cause-of-huntington-s-disease-like-syndrome
#18
Hector Garcia-Moreno, Hiva Fassihi, Robert P E Sarkany, Julie Phukan, Thomas Warner, Alan R Lehmann, Paola Giunti
Xeroderma pigmentosum is characterized by cutaneous, ophthalmological, and neurological features. Although it is typical of childhood, late presentations can mimic different neurodegenerative conditions. We report two families presenting as Huntington's disease-like syndromes. The first case (group G) presented with neuropsychiatric features, cognitive decline and chorea. Typical lentigines were only noticed after the neurological disease started. The second case (group B) presented adult-onset chorea and neuropsychiatric symptoms after an aggressive ocular melanoma...
January 2018: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/29374753/xeroderma-pigmentosum-facts-and-perspectives
#19
REVIEW
Janin Lehmann, Christina Seebode, Marie Christine Martens, Steffen Emmert
Ultraviolet (UV)-induced DNA lesions are almost exclusively removed by the nucleotide excision repair (NER) pathway, which is essential for prevention of skin cancer development. Patients with xeroderma pigmentosum (XP) are extremely sun sensitive due to a genetic defect in components of the NER cascade. They present with first signs of premature skin aging at an early age, with a considerably increased risk of developing UV-induced skin cancer. XP belongs to the group of DNA repair defective disorders that are mainly diagnosed in the clinic and in hindsight confirmed at the molecular level...
February 2018: Anticancer Research
https://www.readbyqxmd.com/read/29362353/role-of-xeroderma-pigmentosum-group-d-in-cell-cycle-and-apoptosis-in-cutaneous-squamous-cell-carcinoma-a431-cells
#20
Ou-Gen Liu, Xiao-Yan Xiong, Chun-Ming Li, Xian-Sheng Zhou, Si-Si Li
BACKGROUND Cutaneous squamous cell carcinoma (cSCC) is the second most widespread cancer in humans and its incidence is rising. Novel therapy with better efficacy is needed for clinical treatment of cSCC. Many studies have shown the importance of DNA repair pathways during the development of cancer. A key nucleotide excision repair (NER) protein, xeroderma pigmentosum group D (XPD), is responsible for the excision of a large variety of bulky DNA lesions. MATERIAL AND METHODS To explore the role of XPD in A431 cells, we overexpressed XPD in A431 cells and performed MTT assay, flow cytometry, and Western blot analysis to examine cell proliferation, cell apoptosis, and genes expression...
January 24, 2018: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
keyword
keyword
66020
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"