keyword
MENU ▼
Read by QxMD icon Read
search

xeroderma pigmentosum

keyword
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
#1
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
#2
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
#3
Sarah Abdullah AlSalman, Tuqa Morad Alkaff, Tariq Alzaid, Yousef Binamer
BACKGROUND: Skin cancer is the most common cancer worldwide; one in every three diagnosed malig.nancies 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
#4
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
#5
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
#6
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
#7
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
#8
I Latour, A Hernández-Martín, C Ged, N Knöpfel, A Taïeb, A Torrelo
Xeroderma pigmentosum (XP) is a group of genetic diseases with high incidence of ultraviolet-related skin cancers that usually appear in childhood. Treatment options for skin cancer in XP include surgery, electrocoagulation, topical 5-fluorouracil or imiquimod 5% cream1 . Oral retinoids have been used for skin cancer prevention, alone or in combination with topical imiquimod, with good response2 . This article is protected by copyright. All rights reserved.
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
#9
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
#10
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
#11
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
https://www.readbyqxmd.com/read/29333465/in-vivo-exposure-effects-of-99mtc-methoxyisobutylisonitrile-on-the-fdxr-and-xpa-genes-expression-in-human-peripheral-blood-lymphocytes
#12
Mohammad Taghi Bahreyni-Toossi, Habibeh Vosoughi, Hosein Azimian, Abdul Rahim Rezaei, Mehdi Momennezhad
Objectives: In recent years, the application of radiopharmaceuticals in nuclear medicine has increased substantially. Following the diagnostic procedures performed in nuclear medicine departments, such as myocardial perfusion imaging, patients generally receive considerable doses of radiation. Normally, radiation-induced DNA damages are expected following exposure to a low-dose ionizing radiation. In order to detect molecular changes, high-sensitivity techniques must be utilized. The aim of this study was to assess the effect of a low-dose (below 10 mSv) gamma ray on gene expression using quantitative real-time polymerase chain reaction (qRT-PCR)...
2018: Asia Oceania Journal of Nuclear Medicine & Biology
https://www.readbyqxmd.com/read/29325523/fanconi-anemia-with-sun-sensitivity-caused-by-a-xeroderma-pigmentosum-associated-missense-mutation-in-xpf
#13
Isabell Popp, Maqsood Punekar, Nick Telford, Stavros Stivaros, Kate Chandler, Meenakshi Minnis, Anna Castleton, Claire Higham, Louise Hopewell, D Gareth Evans, Anja Raams, Arjan F Theil, Stefan Meyer, Detlev Schindler
BACKGROUND: Fanconi anemia (FA) is an inherited genomic instability disorder with congenital and developmental abnormalities, bone marrow failure and predisposition to cancer early in life, and cellular sensitivity to DNA interstrand crosslinks. CASE PRESENTATION: A fifty-one-year old female patient, initially diagnosed with FA in childhood on the basis of classic features and increased chromosomal breakage, and remarkable sun-sensitivity is described. She only ever had mild haematological abnormalities and no history of malignancy...
January 11, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29320546/rpa-and-xpa-interaction-with-dna-structures-mimicking-intermediates-of-the-late-stages-in-nucleotide-excision-repair
#14
Yuliya S Krasikova, Nadejda I Rechkunova, Ekaterina A Maltseva, Olga I Lavrik
Replication protein A (RPA) and the xeroderma pigmentosum group A (XPA) protein are indispensable for both pathways of nucleotide excision repair (NER). Here we analyze the interaction of RPA and XPA with DNA containing a flap and different size gaps that imitate intermediates of the late NER stages. Using gel mobility shift assays, we found that RPA affinity for DNA decreased when DNA contained both extended gap and similar sized flap in comparison with gapped-DNA structure. Moreover, crosslinking experiments with the flap-gap DNA revealed that RPA interacts mainly with the ssDNA platform within the long gap and contacts flap in DNA with a short gap...
2018: PloS One
https://www.readbyqxmd.com/read/29305302/actual-state-of-knowledge-in-the-field-of-diseases-related-with-defective-nucleotide-excision-repair
#15
REVIEW
Barbara Bukowska, Bolesław T Karwowski
Xeroderma pigmentosum (XP), trichothiodystrophy (TTD) and Cockayne syndrome (CS) are rare genetic diseases characterized by a large range of clinical symptoms. However, they are all associated with defects in nucleotide excision repair (NER), the system responsible for removing bulky DNA lesions such as those generated by UV light: cyclobutane pyrimidine dimers (CPDs) and pyrimidine-pyrimidone photoproducts (6-4 PPs). Over the past years, detailed structural and biochemical information on NER-associated proteins has emerged...
January 2, 2018: Life Sciences
https://www.readbyqxmd.com/read/29284765/erratum-a-noncancerous-variant-of-xeroderma-pigmentosum-type-d-associated-with-novel-heterozygous-missense-ercc2-gene-mutation
#16
(no author information available yet)
[This corrects the article DOI: 10.4103/ijdvl.IJDVL_485_16.].
January 2018: Indian Journal of Dermatology, Venereology and Leprology
https://www.readbyqxmd.com/read/29283431/rad4-and-rad23-hmr-contribute-to-arabidopsis-uv-tolerance
#17
Triparna Lahari, Janelle Lazaro, Dana F Schroeder
In plants, exposure to solar ultraviolet (UV) light is unavoidable, resulting in DNA damage. Damaged DNA causes mutations, replication arrest, and cell death, thus efficient repair of the damaged DNA is essential. A light-independent DNA repair pathway called nucleotide excision repair (NER) is conserved throughout evolution. For example, the damaged DNA-binding protein Radiation sensitive 4 (Rad4) in Saccharomyces cerevisiae is homologous to the mammalian NER protein Xeroderma Pigmentosum complementation group C (XPC)...
December 28, 2017: Genes
https://www.readbyqxmd.com/read/29274233/efficacy-of-anti-pd-1-on-skin-carcinomas-and-melanoma-metastases-in-an-xeroderma-pigmentosum-patient
#18
G Salomon, A Maza, S Boulinguez, C Paul, L Lamant, E Tournier, J Mazereeuw-Hautier, N Meyer
Xeroderma pigmentosum is an orphan disease of poor prognosis. We report one case of parallel efficacy with anti-PD-1 antibody on both melanoma and skin carcinoma in a xeroderma pigmentosum patient. A 17-year old patient presented with metastatic melanoma and multiple non melanoma skin cancers. He was treated with pembrolizumab, a monoclonal anti-PD-1 antibody, at the dose of 2mg/Kg 3 weeks apart. Parallel therapeutic efficacy of anti-PD1 was observed in metastatic melanoma and skin carcinomas, and maintained at week 24...
December 23, 2017: British Journal of Dermatology
https://www.readbyqxmd.com/read/29274161/lower-lip-squamous-cell-carcinoma-in-patients-with-photosensitive-disorders-analysis-of-cases-treated-at-the-brazilian-national-cancer-institute-inca-from-1999-to-2012
#19
J-F-P Borges, N Lanaro, V Bernardo, R Albano, F Dias, P de Faria, L Pinto, S-Q Lourenco
BACKGROUND: Lower lip squamous cell carcinoma (LLSCC) is a common malignancy of the head and neck, being mainly a consequence of a chronic exposure to ultraviolet (UV) light solar radiation. Here, we evaluated the clinicopathological profile of patients with photosensitive disorders (xeroderma pigmentosum, lupus erythematosus and albinism) that developed LLSCC. MATERIAL AND METHODS: Data from patients who had a diagnosed LLSCC with a prior xeroderma pigmentosum, lupus erythematosus or albinism diagnosis that were treated at INCA from 1999 to 2012 were collected from patients medical records (n=16)...
December 23, 2017: Medicina Oral, Patología Oral y Cirugía Bucal
https://www.readbyqxmd.com/read/29260835/contribution-of-dna-repair-xeroderma-pigmentosum-group-d-genotypes-to-pancreatic-cancer-risk-in-the-chinese-han-population
#20
Dong Yan, Xiao-Hui Liang, Wei Ding, Xin-Jian Xu, Xi-Yan Wang
This study aimed to determine the association between the polymorphisms and haplotypes in the xeroderma pigmentosum group D (XPD) gene and the risk of pancreatic cancer in the Chinese Han population. SNaPshot was used for genotyping six SNP sites of the XPD gene. Comparisons of the correlations between different genotypes in combination with smoking and the susceptibility to pancreatic cancer were performed. Individual pancreatic cancer risk in patients who carry mutant C alleles (AC, CC, and AC+CC) at rs13181 increased (p < 0...
December 18, 2017: Genetics and Molecular Biology
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"