keyword
MENU ▼
Read by QxMD icon Read
search

Xeroderma

keyword
https://www.readbyqxmd.com/read/28810476/experiences-of-stigma-over-the-lifetime-of-people-with-xeroderma-pigmentosum-a-qualitative-interview-study-in-the-united-kingdom
#1
Rebecca Anderson, Jessica Walburn, Myfanwy Morgan
This study explored experiences of stigma in 25 adults with xeroderma pigmentosum. Analysis of semi-structured interviews revealed the changing nature of stigma over the lifetime. Bullying occurred in childhood, whereas adults were questioned about both their photoprotection and skin damage, often resulting in internalised feelings of stigma. Resilience and rejection of feelings of stigma increased with age and experiences of stigma differed across cultures. Findings indicate a need to develop social skills training to help people reject feelings of stigma...
June 1, 2017: Journal of Health Psychology
https://www.readbyqxmd.com/read/28796034/the-association-between-xpg-polymorphisms-and-cancer-susceptibility-evidence-from-observational-studies
#2
Cuihong Han, Xiaoyi Huang, Ruixi Hua, Shujie Song, Lihua Lyu, Na Ta, Jinhong Zhu, Peixi Zhang
BACKGROUND: Exposure to environmental carcinogens can cause damages to DNA. If not properly repaired, the DNA damages may increase the risk of carcinogenesis. Xeroderma pigmentosum group G (XPG) gene is an essential gene in the nucleotide excision repair (NER) pathway. The association between XPG polymorphisms and cancer susceptibility has been the focus of attention in the molecular epidemiology of cancer. However, the conclusions have been divergent. Therefore, we conducted a comprehensive meta-analysis to precisely evaluate the association of 3 frequently investigated XPG polymorphisms (rs751402, rs873601, and rs2296147) with cancer risk...
August 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28771907/xeroderma-pigmentosum-clinical-practice-guidelines
#3
Shinichi Moriwaki, Fumio Kanda, Masaharu Hayashi, Daisuke Yamashita, Yoshitada Sakai, Chikako Nishigori
Xeroderma pigmentosum (XP) is a genetic photosensitive disorder in which patients are highly susceptibe to skin cancers on the sun-exposed body sites. In Japan, more than half of patients (30% worldwide) with XP show complications of idiopathic progressive, intractable neurological symptoms with poor prognoses. Therefore, this disease does not merely present with dermatological symptoms, such as photosensitivity, pigmentary change and skin cancers, but is "an intractable neurological and dermatological disease"...
August 3, 2017: Journal of Dermatology
https://www.readbyqxmd.com/read/28760956/poly-adp-ribose-polymerase-1-escorts-xpc-to-uv-induced-dna-lesions-during-nucleotide-excision-repair
#4
Mihaela Robu, Rashmi G Shah, Nupur K Purohit, Pengbo Zhou, Hanspeter Naegeli, Girish M Shah
Xeroderma pigmentosum C (XPC) protein initiates the global genomic subpathway of nucleotide excision repair (GG-NER) for removal of UV-induced direct photolesions from genomic DNA. The XPC has an inherent capacity to identify and stabilize at the DNA lesion sites, and this function is facilitated in the genomic context by UV-damaged DNA-binding protein 2 (DDB2), which is part of a multiprotein UV-DDB ubiquitin ligase complex. The nuclear enzyme poly(ADP-ribose) polymerase 1 (PARP1) has been shown to facilitate the lesion recognition step of GG-NER via its interaction with DDB2 at the lesion site...
August 15, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28749109/xpg-asp1104his-xrcc2-rs3218536-a-g-and-rad51-135g-c-gene-polymorphisms-and-colorectal-cancer-risk-a-meta-analysis
#5
Ebrahim Eskandari, Alireza Rezaifar, Mohammad Hashemi
Background: DNA repair mechanisms are crucial for sustaining DNA integrity and preventing carcinogenesis. The xeroderma pigmentosum group G (XPG), X-ray repair cross complementing group 2 (XRCC2) and RAD51 are candidate genes for DNA repair pathways. Methods: We performed a meta-analysis of 26 studies that assessed the impact of XPG Asp1104His, XRCC2 rs3218536 A/G and RAD51 135G/C polymorphisms on colorectal cancer (CRC) risk. This study included 10288 CRC patients and 11885 controls, and odds ratio (OR) with its 95% confidence interval (CI) were used to calculate the strength of association...
July 27, 2017: Asian Pacific Journal of Cancer Prevention: APJCP
https://www.readbyqxmd.com/read/28746345/cisplatin-resistance-in-non-small-cell-lung-cancer-cells-is-associated-with-an-abrogation-of-cisplatin-induced-g2-m-cell-cycle-arrest
#6
Navin Sarin, Florian Engel, Ganna V Kalayda, Mareike Mannewitz, Jindrich Cinatl, Florian Rothweiler, Martin Michaelis, Hisham Saafan, Christoph A Ritter, Ulrich Jaehde, Roland Frötschl
The efficacy of cisplatin-based chemotherapy in cancer is limited by the occurrence of innate and acquired drug resistance. In order to better understand the mechanisms underlying acquired cisplatin resistance, we have compared the adenocarcinoma-derived non-small cell lung cancer (NSCLC) cell line A549 and its cisplatin-resistant sub-line A549rCDDP2000 with regard to cisplatin resistance mechanisms including cellular platinum accumulation, DNA-adduct formation, cell cycle alterations, apoptosis induction and activation of key players of DNA damage response...
2017: PloS One
https://www.readbyqxmd.com/read/28743838/xpg-gene-rs751402-c-t-polymorphism-and-cancer-risk-evidence-from-22-publications
#7
Haixia Zhou, Ting-Yan Shi, Wenwen Zhang, Qiwen Li, Jinhong Zhu, Jing He, Jichen Ruan
The Xeroderma pigmentosum group G (XPG) gene promotes recognition and excision of damaged DNA during the DNA repair process. We conducted a comprehensive search of the MEDLINE, EMBASE, and Chinese Biomedical databases for publications evaluating the association XPG gene rs751402 C>T polymorphism and overall cancer risk. Pooled odds ratios (ORs) and 95% confidence intervals (CIs) were adopted to assess the strength of the association. A total of 22 publications encompassing 10538 cases and 10511 control subjects were included in the final meta-analysis...
July 18, 2017: Oncotarget
https://www.readbyqxmd.com/read/28735741/apigenin-prevents-ultraviolet-b-radiation-induced-cyclobutane-pyrimidine-dimers-formation-in-human-dermal-fibroblasts
#8
S Mary Britto, D Shanthakumari, B Agilan, T Radhiga, G Kanimozhi, N Rajendra Prasad
Exposure to solar ultraviolet-B (UVB) radiation leads to the formation of cyclobutane pyrimidine dimers (CPDs). We investigated the protective effect of apigenin against UVB-induced CPDs formation in human dermal fibroblasts cells (HDFa). For this purpose, HDFa cells were treated with apigenin (15μM) prior to UVB irradiation (20mJ/cm(2)); DNA damage and subsequent molecular end points were observed. Exposure to UVB radiation increased significant CPDs formation in HDFa cells and the frequencies of CPDs were reduced by treatment with apigenin (15μM)...
September 2017: Mutation Research
https://www.readbyqxmd.com/read/28731255/mild-classical-xeroderma-pigmentosum
#9
R S Dawe, V A McGuire
No abstract text is available yet for this article.
July 2017: British Journal of Dermatology
https://www.readbyqxmd.com/read/28719581/phosphorylated-hbo1-at-uv-irradiated-sites-is-essential-for-nucleotide-excision-repair
#10
Hiroyuki Niida, Ryoichi Matsunuma, Ryo Horiguchi, Chiharu Uchida, Yuka Nakazawa, Akira Motegi, Koji Nishimoto, Satoshi Sakai, Tatsuya Ohhata, Kyoko Kitagawa, Shinichi Moriwaki, Hideo Nishitani, Ayako Ui, Tomoo Ogi, Masatoshi Kitagawa
HBO1, a histone acetyl transferase, is a co-activator of DNA pre-replication complex formation. We recently reported that HBO1 is phosphorylated by ATM and/or ATR and binds to DDB2 after ultraviolet irradiation. Here, we show that phosphorylated HBO1 at cyclobutane pyrimidine dimer (CPD) sites mediates histone acetylation to facilitate recruitment of XPC at the damaged DNA sites. Furthermore, HBO1 facilitates accumulation of SNF2H and ACF1, an ATP-dependent chromatin remodelling complex, to CPD sites. Depletion of HBO1 inhibited repair of CPDs and sensitized cells to ultraviolet irradiation...
July 18, 2017: Nature Communications
https://www.readbyqxmd.com/read/28718980/an-endogenous-dna-adduct-as-a-prognostic-biomarker-for-hepatocarcinogenesis-and-its-prevention-by-theaphenon-e-in-mice
#11
Ying Fu, Shana Silverstein, Justine N McCutcheon, Marcin Dyba, Raghu G Nath, Monika Aggarwal, Heidi Coia, Angela Bai, Jishen Pan, Jiji Jiang, Bhaskar Kallakury, Hongkun Wang, Yu-Wen Zhang, Giuseppe Giaccone, Aiwu Ruth He, Fung-Lung Chung
Hepatocellular carcinoma (HCC) is the third leading cause of cancer-related deaths worldwide, mainly because of its poor prognosis. A valid mechanism-based prognostic biomarker is urgently needed. γ-hydroxy-1,N(2) -propanodeoxyguanosine (γ-OHPdG) is an endogenously formed mutagenic DNA adduct derived from lipid peroxidation (LPO). We examined the relationship of γ-OHPdG with hepatocarcinogenesis in two animal models and its potential role as a prognostic biomarker for recurrence in HCC patients. Bioassays were conducted in the Xeroderma pigmentosum group A knockout mice (Xpa(-/-) ), and the diethylnitrosamine (DEN)-injected mice, both prone to HCC development...
July 18, 2017: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
https://www.readbyqxmd.com/read/28705516/dermoscopy-of-pigmented-actinic-keratosis-of-the-face-a-study-of-232-cases
#12
A Kelati, H Baybay, E Moscarella, G Argenziano, S Gallouj, F Z Mernissi
The diagnosis of pigmented actinic keratosis (PAK) is often challenging because of overlapping features with lentigo maligna. OBJECTIVE: To investigate dermoscopic patterns of PAK according to their different evolutionary stages, and to correlate the pattern with clinical characteristics of the patients. METHODS: Descriptive and analytical study of 232 PAK. Dermoscopic patterns were divided into two categories: the follicule surroundings' abnormalities (FSA) and follicular keratosis' abnormalities (FKA)...
July 11, 2017: Actas Dermo-sifiliográficas
https://www.readbyqxmd.com/read/28704716/transcriptional-consequences-of-xpa-disruption-in-human-cell-lines
#13
Mandira Manandhar, Megan G Lowery, Karen S Boulware, Kevin H Lin, Yue Lu, Richard D Wood
Nucleotide excision repair (NER) in mammalian cells requires the xeroderma pigmentosum group A protein (XPA) as a core factor. Remarkably, XPA and other NER proteins have been detected by chromatin immunoprecipitation at some active promoters, and NER deficiency is reported to influence the activated transcription of selected genes. However, the global influence of XPA on transcription in human cells has not been determined. We analyzed the human transcriptome by RNA sequencing (RNA-Seq). We first confirmed that XPA is confined to the cell nucleus even in the absence of external DNA damage, in contrast to previous reports that XPA is normally resident in the cytoplasm and is imported following DNA damage...
June 29, 2017: DNA Repair
https://www.readbyqxmd.com/read/28688171/diagnosis-of-xeroderma-pigmentosum-variant-in-a-young-patient-with-two-novel-mutations-in-the-polh-gene
#14
Armando De Palma, Marie-Anne Morren, Cécile Ged, Caroline Pouvelle, Alain Taïeb, Said Aoufouchi, Alain Sarasin
We describe the characterization of Xeroderma Pigmentosum variant (XPV) in a young Caucasian patient with phototype I, who exhibited a high sensitivity to sunburn and multiple cutaneous tumors at the age of 15 years. Two novel mutations in the POLH gene, which encodes the translesion DNA polymerase η, with loss of function due to two independent exon skippings, are reported to be associated as a compound heterozygous state in the patient. Western blot analysis performed on proteins from dermal fibroblasts derived from the patient and analysis of the mutation spectrum on immunoglobulin genes produced during the somatic hypermutation process in his memory B cells, show the total absence of translesion polymerase η activity in the patient...
July 8, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28676261/an-assay-to-detect-dna-damaging-agents-that-induce-nucleotide-excision-repairable-dna-lesions-in-living-human-cells
#15
Reine Takatsuka, Shunsuke Ito, Shigenori Iwai, Isao Kuraoka
Biochemical risk assessment studies of chemicals that induce DNA lesions are important, because lesions in genomic DNA frequently result in cancer, neurodegeneration, and aging in humans. Many classes of DNA lesions induced by chemical agents are eliminated via DNA repair mechanisms, such as nucleotide excision repair (NER) and base excision repair (BER), for the maintenance of genomic integrity. Individuals with NER-defective xeroderma pigmentosum (XP), in which bulky DNA lesions are not efficiently removed, are cancer-prone and suffer neurodegeneration...
August 2017: Mutation Research
https://www.readbyqxmd.com/read/28615033/a-novel-frameshift-mutation-in-the-xpc-gene-in-a-moroccan-patient-a-case-report
#16
Yassamine Doubaj, Wiam Smaili, Fatima-Zahra Laarabi, Abdelaziz Sefiani
BACKGROUND: Xeroderma pigmentosum is an autosomal recessive inherited disease. The diagnosis is essentially based on clinical findings and the family history. This genodermatosis is genetically heterogeneous; to date, nine genes have been associated to this disorder. Based on the result of many studies, xeroderma pigmentosum complementation group C is the most common form of xeroderma pigmentosum. A founder mutation in the XPC gene was reported in the Maghreb region of northern Africa...
June 15, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/28578364/xeroderma-pigmentosum-at-a-tertiary-care-center-in-saudi-arabia
#17
Lenah Alwatban, Yousef Binamer
BACKGROUND: Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder caused by defective DNA repair that results in extreme sensitivity to ultraviolet (UV) rays. Depending on the type of XP, the disease may affect the skin, eyes and nervous system. OBJECTIVES: Describe the dermatologic manifestations in patients suffering from XP. DESIGN: Retrospective, descriptive review of medical records. SETTING: Dermatology clinic at tertiary care center in Riyadh...
May 2017: Annals of Saudi Medicine
https://www.readbyqxmd.com/read/28572264/recommendations-for-childhood-cancer-screening-and-surveillance-in-dna-repair-disorders
#18
REVIEW
Michael F Walsh, Vivian Y Chang, Wendy K Kohlmann, Hamish S Scott, Christopher Cunniff, Franck Bourdeaut, Jan J Molenaar, Christopher C Porter, John T Sandlund, Sharon E Plon, Lisa L Wang, Sharon A Savage
DNA repair syndromes are heterogeneous disorders caused by pathogenic variants in genes encoding proteins key in DNA replication and/or the cellular response to DNA damage. The majority of these syndromes are inherited in an autosomal-recessive manner, but autosomal-dominant and X-linked recessive disorders also exist. The clinical features of patients with DNA repair syndromes are highly varied and dependent on the underlying genetic cause. Notably, all patients have elevated risks of syndrome-associated cancers, and many of these cancers present in childhood...
June 1, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/28554534/ophthalmic-manifestations-of-xeroderma-pigmentosum-a-perspective-from-the-united-kingdom
#19
Rongxuan Lim, Mieran Sethi, Ana M S Morley
PURPOSE: To document the ocular manifestations of xeroderma pigmentosum (XP), presenting via the United Kingdom (UK) XP service, and to analyze the correlations between XP genotype and ophthalmic phenotype. DESIGN: Prospective observational case series. SUBJECTS: Eighty-nine patients seen by the UK Nationally Commissioned XP Service, from April 2010 to December 2014, with a genetically confirmed diagnosis of XP. METHODS: Patients underwent a full ophthalmic examination at each visit...
May 26, 2017: Ophthalmology
https://www.readbyqxmd.com/read/28552776/differential-sensitivities-of-cellular-xpa-and-parp-1-to-arsenite-inhibition-and-zinc-rescue
#20
Xiaofeng Ding, Xixi Zhou, Karen L Cooper, Juliana Huestis, Laurie G Hudson, Ke Jian Liu
Arsenite directly binds to the zinc finger domains of the DNA repair protein poly (ADP ribose) polymerase (PARP)-1, and inhibits PARP-1 activity in the base excision repair (BER) pathway. PARP inhibition by arsenite enhances ultraviolet radiation (UVR)-induced DNA damage in keratinocytes, and the increase in DNA damage is reduced by zinc supplementation. However, little is known about the effects of arsenite and zinc on the zinc finger nucleotide excision repair (NER) protein xeroderma pigmentosum group A (XPA)...
May 25, 2017: Toxicology and Applied Pharmacology
keyword
keyword
96272
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"