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Xeroderma

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https://www.readbyqxmd.com/read/28615033/a-novel-frameshift-mutation-in-the-xpc-gene-in-a-moroccan-patient-a-case-report
#1
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
#2
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
#3
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
#4
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
#5
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
https://www.readbyqxmd.com/read/28543586/multiple-skin-cancers-in-patients-with-mycosis-fungoides-after-long-term-ultraviolet-phototherapy
#6
K Imafuku, H Hata, T Yanagi, S Kitamura, Y Inamura-Takashima, M Nishimura, S Kitamura, S Moriwaki, H Shimizu
Phototherapy is a useful noninvasive therapy, but it can induce cutaneous malignant tumours, including squamous cell carcinoma (SCC) and basal cell carcinoma (BCC). We report on a 79-year-old man who had long-standing mycosis fungoides for 40 years, which had been treated with psoralen ultraviolet A therapy for 37 years at a dose of approximately 5000 J/cm(2) . Approximately 6 years before presentation, numerous types of cutaneous malignancies, including actinic keratosis, BCC and SCC, had begun to develop all over the patient's body...
July 2017: Clinical and Experimental Dermatology
https://www.readbyqxmd.com/read/28540485/xpc-polymorphism-and-risk-for-lung-cancer-in-north-indian-patients-treated-with-platinum-based-chemotherapy-and-its-association-with-clinical-outcomes
#7
Shweta Lawania, Navneet Singh, Digamber Behera, Siddharth Sharma
Xeroderma pigmentosum complementation group C plays an important role in the human repair system. As reported in previous studies its polymorphism are associated with lung cancer susceptibility. The purpose of this study is to investigate the association of XPC gene with lung cancer susceptibility, overall response and clinical outcomes amongst North Indians. A hospital based study of 370 lung cancer cases and 370 healthy controls was conducted and genotypes were determined using PCR-RFLP assay. Results were assessed using logistic linear regression adjusted for age, sex and smoking status...
May 24, 2017: Pathology Oncology Research: POR
https://www.readbyqxmd.com/read/28528167/cxcl1-inhibition-regulates-uvb-induced-skin-inflammation-and-tumorigenesis-in-xpa-deficient-mice
#8
Makoto Kunisada, Chieko Hosaka, Chihiro Takemori, Eiji Nakano, Chikako Nishigori
Xeroderma pigmentosum complementation group A (XP-A) is a hereditary disease characterized by early onset of skin cancers and freckles-like pigmented maculae in the sun-exposed sites. Although etiology of predisposition to UV-induced skin tumors in XP-A is well investigated as a repair deficiency in UV-induced DNA damage, the mechanism of exaggerated sunburn in patients with XP-A and whether UV-induced inflammation relates to skin tumor-prone phenotype remains to be elucidated. Using gene profiling of XP-A model mice, Xpa-deficient mice, we found that expression of CXCL1 in the skin and blood levels of in Xpa-deficient mice increased significantly after UVB exposure at an even a limited area in comparison to those of wild-type mice...
May 17, 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/28504392/molecular-diagnosis-of-xeroderma-pigmentosum-variant-in-an-isolated-population-the-interface-between-precision-medicine-and-public-health
#9
D Tamura, S G Khan, J J DiGiovanna
No abstract text is available yet for this article.
May 2017: British Journal of Dermatology
https://www.readbyqxmd.com/read/28486142/the-age-related-expression-decline-of-ercc1-and-xpf-for-forensic-age-estimation-a-preliminary-study
#10
Xiao-Dong Deng, Qin Gao, Wei Zhang, Bo Zhang, Ying Ma, Li-Xia Zhang, Cheer Muer, Ying Xie, Yun Liu
The age-related capacity decline of DNA damage repair in human peripheral blood has been demonstrated. Excision repair cross-complementation group1 (ERCC1) and Xeroderma pigmentosum complementation group F (XPF) were rate-limiting enzyme in nucleotide excision repair (NER) which was known as the most important DNA damage repair system. Consequently, we hypothesized that the expression and/or activity of ERCC1 and XPF may be associated with age. However, little was known about the quantitative relationship of ERCC1 and XPF expression levels with age...
July 2017: Journal of Forensic and Legal Medicine
https://www.readbyqxmd.com/read/28473198/subcellular-distribution-of-rad23b-controls-xpc-degradation-and-dna-damage-repair-in-response-to-chemotherapy-drugs
#11
Xue You, Weiwei Guo, Lin Wang, Yongfan Hou, Huanhuan Zhang, Yi Pan, Ruomei Han, Meiqin Huang, Lujian Liao, Yan Chen
The RAD23B-XPC complex in the nucleus plays a key role in the initial damage recognition during global genome nucleotide excision repair (NER). Within the complex, XPC, a product of Xeroderma pigmentosum C, recognizes and interacts with the unpaired bases in the undamaged DNA strand, while RAD23B stabilizes XPC. However, how RAD23B is regulated by other factors is not well known. We report here a mode of spatial regulation of RAD23B that controls XPC stability and DNA damage repair. We first identified that RAD23B was able to directly associate with PAQR3, a newly-discovered tumor suppressor implicated in many types of human cancers...
May 1, 2017: Cellular Signalling
https://www.readbyqxmd.com/read/28472728/new-polymorphisms-of-xeroderma-pigmentosum-dna-repair-genes-in-myelodysplastic-syndrome
#12
Sabrina Pinheiro Santiago, Howard Lopes Ribeiro Junior, Juliana Cordeiro de Sousa, Daniela de Paula Borges, Roberta Taiane Germano de Oliveira, Izabelle Rocha Farias, Marília Braga Costa, Allan Rodrigo Soares Maia, Mayumi da Nóbrega Ito, Silvia Maria Meira Magalhães, Ronald Feitosa Pinheiro
The association between Xeroderma Pigmentosum DNA repair genes (XPA rs1800975, XPC rs2228000, XPD rs1799793 and XPF rs1800067) polymorphisms and myelodysplastic syndrome (MDS) have not been reported. To assess the functional role between these polymorphisms and MDS, we evaluated 189 samples stratified in two groups: 95 bone marrow samples from MDS patients and 94 from healthy elderly volunteers used as controls. Genotypes for all polymorphisms were identified in DNA samples in an allelic discrimination experiment by real-time polymerase chain reaction (qPCR)...
July 2017: Leukemia Research
https://www.readbyqxmd.com/read/28460163/nucleotide-excision-repair-lesion-recognition-protein-rad4-captures-a-pre-flipped-partner-base-in-a-benzo-a-pyrene-derived-dna-lesion-how-structure-impacts-the-binding-pathway
#13
Hong Mu, Nicholas E Geacintov, Jung-Hyun Min, Yingkai Zhang, Suse Broyde
The xeroderma pigmentosum C protein complex (XPC) recognizes a variety of environmentally induced DNA lesions and is the key in initiating their repair by the nucleotide excision repair (NER) pathway. When bound to a lesion, XPC flips two nucleotide pairs that include the lesion out of the DNA duplex, yielding a productively bound complex that can lead to successful lesion excision. Interestingly, the efficiencies of NER vary greatly among different lesions, influencing their toxicity and mutagenicity in cells...
May 15, 2017: Chemical Research in Toxicology
https://www.readbyqxmd.com/read/28448100/electrochemotherapy-for-non-melanoma-skin-cancer-in-a-child-with-xeroderma-pigmentosum-c
#14
Eszter Baltás, Erika Kis, Nikoletta Nagy, Nicolette Sohár, Erika Varga, Márta Széll, Lajos Kemény, Judit Oláh
No abstract text is available yet for this article.
April 27, 2017: Acta Dermato-venereologica
https://www.readbyqxmd.com/read/28431612/xeroderma-pigmentosum-complementation-group-f-a-rare-cause-of-cerebellar-ataxia-with-chorea
#15
G Carré, C Marelli, M Anheim, C Geny, M Renaud, H R Rezvani, M Koenig, C Guissart, C Tranchant
The complementation group F of Xeroderma pigmentosum (XP-F) is rare in the Caucasian population, and usually devoid of neurological symptoms. We report two cases, both Caucasian, who exhibited progressive cerebellar ataxia, chorea, a mild subcortical frontal cognitive impairment, and in one case severe polyneuropathy. Brain MRI demonstrated cerebellar (2/2) and cortical (1/2) atrophy. Both patients had only mild sunburn sensitivity and no skin cancer. Mini-exome sequencing approach revealed in ERCC4, two heterozygous mutations, one of which was never described (c...
May 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28425625/a-missense-mutation-in-damage-specific-dna-binding-protein-2-is-a-genetic-risk-factor-for-limbal-squamous-cell-carcinoma-in-horses
#16
Rebecca R Bellone, Jiayin Liu, Jessica L Petersen, Maura Mack, Moriel Singer-Berk, Cord Drögemüller, Julia Malvick, Barbara Wallner, Gottfried Brem, M Cecilia Penedo, Mary Lassaline
Squamous cell carcinoma (SCC) is the most common cancer of the equine eye, frequently originating at the limbus, with the potential to invade the cornea, cause visual impairment, and result in loss of the eye. Several breeds of horses have a high occurrence of limbal SCC implicating a genetic basis for limbal SCC predisposition. Pedigree analysis in the Haflinger breed supports a simple recessive mode of inheritance and a genome-wide association study (N = 23) identified a 1.5 Mb locus on ECA12 significantly associated with limbal SCC (Pcorrected = 0...
July 15, 2017: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/28420850/alert-regarding-cisplatin-induced-severe-adverse-events-in-cancer-patients-with-xeroderma-pigmentosum
#17
Makoto Sumiyoshi, Hiroshi Soda, Noriaki Sadanaga, Hirokazu Taniguchi, Takaya Ikeda, Hiroshi Maruta, Yosuke Dotsu, Daiki Ogawara, Yuichi Fukuda, Hiroshi Mukae
Xeroderma pigmentosum (XP) is a genetic disease in which DNA repair mechanisms are impaired. Cisplatin (CDDP) exerts cytotoxic effects by forming mainly intrastrand DNA cross-links, and sensitivity to CDDP depends on the DNA repair system. Several in vitro studies have suggested that treatment with CDDP may cause enhanced adverse events as well as anti-tumor activity in cancer patients with XP. This article is the first to describe two cancer patients with XP showing severe adverse events following CDDP-based chemotherapy...
2017: Internal Medicine
https://www.readbyqxmd.com/read/28416771/xpg-gene-polymorphisms-and-cancer-susceptibility-evidence-from-47-studies
#18
Jiawen Huang, Xiaoqi Liu, Ling-Ling Tang, Jian-Ting Long, Jinhong Zhu, Rui-Xi Hua, Jufeng Li
Xeroderma pigmentosum group G (XPG) is a single-strand-specific DNA endonuclease that functions in the nucleotide excision repair pathway. Genetic variations in XPG gene can alter the DNA repair capacity of this enzyme. We evaluated the associations between six single nucleotide polymorphisms (SNPs) in XPG (rs1047768 T>C, rs2296147 T>C, rs2227869 G>C, rs2094258 C>T, rs751402 C>T, and rs873601 G>A) and cancer risk. Forty-seven studies were identified in searches of the PubMed, Scopus, Web of Science, China National Knowledge Infrastructure, and WanFang databases...
June 6, 2017: Oncotarget
https://www.readbyqxmd.com/read/28401271/-light-protection-for-xeroderma-pigmentosum
#19
REVIEW
M Ettinger, M Berneburg
Xeroderma pigmentosum is a rare autosomal recessive disorder which is caused by germinal mutations responsible for the repair of ultraviolet (UV) radiation-induced DNA lesions. It is characterized by hypersensitivity to UV radiation, poikiloderma, ocular surface disease, and in some patients pronounced sunburn and neurological disease. Patients have a very high risk of developing ocular and skin cancer on exposed body sites. No cure is available for these patients except complete protection from all types of UV radiation...
May 2017: Der Hautarzt; Zeitschrift Für Dermatologie, Venerologie, und Verwandte Gebiete
https://www.readbyqxmd.com/read/28399347/conjunctival-tumors-review-of-clinical-features-risks-biomarkers-and-outcomes-the-2017-j-donald-m-gass-lecture
#20
Carol L Shields, Jason L Chien, Thamolwan Surakiatchanukul, Kareem Sioufi, Sara E Lally, Jerry A Shields
Conjunctival tumors encompass a broad range of diagnoses. The 3 most important malignant tumors include ocular surface squamous neoplasia (OSSN) (14%), melanoma (12%), and lymphoma (7%). Conjunctival malignancies are rarely found in children. Regarding OSSN, pre-disposing conditions include chronic solar radiation, immune deficiency (HIV), organ transplant, autoimmune conditions, xeroderma pigmentosum, and chronic exposure to cigarette smoke. OSSN is managed surgically or with topical/injection immunotherapy or chemotherapy...
March 2017: Asia-Pacific Journal of Ophthalmology
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