6,327 results match your criteria Xeroderma Pigmentosum


Malar rash in a young child with neurodevelopmental delay: a quiz.

Arch Dis Child Educ Pract Ed 2020 May 23. Epub 2020 May 23.

Dermatology, American University of Beirut Medical Center, Beirut, Lebanon

-A 14-month-old boy born to consanguineous parents presented to our Dermatology Department with a 6-month history of a malar eczematous rash that worsens with sun exposure. He had butterfly-shaped, hyperpigmented exfoliating plaques, preceded by blister formation (figure 1). He was also noticed to have enophthalmos, a pinched nose, microcephaly and a cachectic physique. Read More

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http://dx.doi.org/10.1136/archdischild-2019-318334DOI Listing

Association of human rs1800975 polymorphism and cancer susceptibility: an integrative analysis of 71 case-control studies.

Cancer Cell Int 2020 13;20:164. Epub 2020 May 13.

First Department of Neurology, The First Hospital of Zibo, Zibo, Shandong 255200 People's Republic of China.

Background: The objective of the present study is to comprehensively evaluate the impact of the rs1800975 A/G polymorphism within the human xeroderma pigmentosum group A () gene on susceptibility to overall cancer by performing an integrative analysis of the current evidence.

Methods: We retrieved possible relevant publications from a total of six electronic databases (updated to April 2020) and selected eligible case-control studies for pooled assessment. -values of association and odds ratio (OR) were calculated for the assessment of association effect. Read More

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http://dx.doi.org/10.1186/s12935-020-01244-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7218628PMC

Epstein-Barr virus co-opts TFIIH component XPB to specifically activate essential viral lytic promoters.

Proc Natl Acad Sci U S A 2020 May 20. Epub 2020 May 20.

Division of Infectious Diseases, Department of Medicine, University of Utah School of Medicine, Salt Lake City, UT 84132;

Epstein-Barr virus (EBV) is associated with epithelial and lymphoid malignancies, establishes latent infection in memory B cells, and intermittently produces infectious virions through lytic replication. Released virions play a key role in latent reservoir maintenance and transmission. Lytic EBV transcription differs from cellular transcription in requiring a virus-encoded preinitiation complex that binds to TATT motifs unique to EBV late lytic promoters. Read More

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http://dx.doi.org/10.1073/pnas.2000625117DOI Listing

Spironolactone and XPB: An Old Drug with a New Molecular Target.

Biomolecules 2020 May 13;10(5). Epub 2020 May 13.

Department of Pharmacology and Toxicology, Wright State University Boonshoft School of Medicine, Dayton, OH 45435, USA.

Spironolactone (SP) is commonly used for the treatment of heart failure, hypertension, and complications of cirrhosis by antagonizing the mineralocorticoid receptor. However, SP also antagonizes the androgen receptor, and thus SP has also been shown to be effective in the treatment of acne, hair loss, and hirsutism in women. Interestingly, recent drug repurposing screens have identified new and diverse functions for SP as a simulator of tumor immunosurveillance and as an inhibitor of DNA repair and viral infection. Read More

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http://dx.doi.org/10.3390/biom10050756DOI Listing

Ciao1 interacts with Crumbs and Xpd to regulate organ growth in Drosophila.

Cell Death Dis 2020 May 13;11(5):365. Epub 2020 May 13.

Department of Biological Sciences, Korea Advanced Institute of Science and Technology (KAIST), Daejeon, 34141, Republic of Korea.

Ciao1 is a component of the cytosolic iron-sulfur cluster assembly (CIA) complex along with MMS19 and MIP18. Xeroderma pigmentosum group D (XPD), a DNA helicase involved in regulation of cell cycle and transcription, is a CIA target for iron-sulfur (Fe/S) modification. In vivo function of Ciao1 and Xpd in developing animals has been rarely studied. Read More

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http://dx.doi.org/10.1038/s41419-020-2564-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7220951PMC

Lentigo maligna in a patient with xeroderma pigmentosum, variant type: A case report with dermoscopic findings and review of the literature.

Photodermatol Photoimmunol Photomed 2020 May 7. Epub 2020 May 7.

Department of Dermatology, Seoul National University College of Medicine, Seoul, Korea.

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http://dx.doi.org/10.1111/phpp.12568DOI Listing

XPD inhibits cell growth and invasion and enhances chemosensitivity in esophageal squamous cell carcinoma by regulating the PI3K/AKT signaling pathway.

Int J Mol Med 2020 May 4. Epub 2020 May 4.

Department of Gastroenterology, Third Affiliated Hospital of Nanchang University, Nanchang, Jiangxi 330008, P.R. China.

Esophageal squamous cell carcinoma (ESCC) is a lethal disease due to its high aggressiveness. The aim of the present study was to investigate the role of xeroderma pigmentosum complementation group D (XPD) in the growth and invasion of ESCC and to elucidate the potential underlying molecular mechanisms. Western blot analysis and RT‑qPCR were used to detect the expression level of XPD in ESCC tissue samples and adjacent normal esophageal tissue samples. Read More

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http://dx.doi.org/10.3892/ijmm.2020.4593DOI Listing

Corneal endothelial assessment in xeroderma pigmentosum: a case-control study.

Int Ophthalmol 2020 May 5. Epub 2020 May 5.

Eye Research Center, The Five Senses Institute, Rassoul Akram Hospital, Iran University of Medical Sciences, Sattarkhan-11 Niayesh St., Tehran, 14455-364, Iran.

Purpose: To analyze and compare corneal endothelial mosaic in terms of endothelial cell population, morphology and irregularity in patients with xeroderma pigmentosum (XP) with clear corneas with normal age and sex matched subjects using specular microscopy.

Methods: Nine patients with XP without corneal involvement were evaluated in the study. An age and sex matched group of nine healthy subjects participated as control group. Read More

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http://dx.doi.org/10.1007/s10792-020-01398-1DOI Listing

Nanoparticle-Mediated Gene Silencing for Sensitization of Lung Cancer to Cisplatin Therapy.

Molecules 2020 Apr 24;25(8). Epub 2020 Apr 24.

Department of Oncology, School of Medicine and Barbara Ann Karmanos Institute, Wayne State University, Detroit, MI 48201, USA.

Platinum-based chemotherapy remains a mainstay treatment for the management of advanced non-small cell lung cancer. A key cellular factor that contributes to sensitivity to platinums is the 5'-3' structure-specific endonuclease excision repair cross-complementation group 1 (ERCC1)/ xeroderma pigmentosum group F (XPF). ERCC1/XPF is critical for the repair of platinum-induced DNA damage and has been the subject of intense research efforts to identify small molecule inhibitors of its nuclease activity for the purpose of enhancing patient response to platinum-based chemotherapy. Read More

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http://dx.doi.org/10.3390/molecules25081994DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7221615PMC

Photodynamic therapy in the treatment of xeroderma pigmentosum: A case report.

Photodiagnosis Photodyn Ther 2020 Apr 10:101761. Epub 2020 Apr 10.

Department of Dermatology, Air Force Medical Center, PLA, Beijing 100853, PR China.

Xeroderma pigmentosum (XP) is a rare autosomal recessive dermatosis that is often complicated by multiple skin tumours at exposed locations, which are difficult to treat. We report a case of a 12-year-old girl with XP treated with oral retinoic acid and photodynamic therapy (PDT) with good clinical results. She had an 8-year history of multiple skin lesions that first appeared on her nasal dorsum, but gradually increased in size and spread to her entire face, neck, and upper limbs. Read More

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http://dx.doi.org/10.1016/j.pdpdt.2020.101761DOI Listing

The Iberian legacy into a young genetic xeroderma pigmentosum cluster in central Brazil.

Mutat Res 2020 04 29;852:503164. Epub 2020 Feb 29.

Department of Microbiology, Institute of Biomedical Sciences, University of São Paulo, São Paulo, Brazil. Electronic address:

In central Brazil, in the municipality of Faina (state of Goiás), the small and isolated village of Araras comprises a genetic cluster of xeroderma pigmentosum (XP) patients. The high level of consanguinity and the geographical isolation gave rise to a high frequency of XP patients. Recently, two founder events were identified affecting that community, with two independent mutations at the POLH gene, c. Read More

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http://dx.doi.org/10.1016/j.mrgentox.2020.503164DOI Listing

Loci associated with genomic damage levels in chronic kidney disease patients and controls.

Mutat Res 2020 04 10;852:503167. Epub 2020 Mar 10.

Grup de Mutagènesi, Departament de Genètica i de Microbiologia, Edifici C, Universitat Autònoma de Barcelona, Bellaterra, Cerdanyola del Vallès, Spain; Consortium for Biomedical Research in Epidemiology and Public Health (CIBERESP), Carlos III Institute of Health, Madrid, Spain. Electronic address:

Chronic kidney disease (CKD) is a multifactorial disorder with an important genetic component, and several studies have demonstrated potential associations with allelic variants. In addition, CKD patients are also characterized by high levels of genomic damage. Nevertheless, no studies have established relationships between DNA damage, or genomic instability present in CKD patients, and gene polymorphisms. Read More

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http://dx.doi.org/10.1016/j.mrgentox.2020.503167DOI Listing
April 2020
3.680 Impact Factor

Effect of Pegylated Interferon and Mitomycin C on Ocular Surface Squamous Neoplasia in Xeroderma Pigmentosum: A Case Series.

Am J Case Rep 2020 Apr 6;21:e921301. Epub 2020 Apr 6.

College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.

BACKGROUND Xeroderma pigmentosum (XP) is an autosomal recessive disease caused by mutations in DNA repair genes. Clinical manifestations include extreme sensitivity to ultraviolet (UV) rays, freckle-like pigmentation, ocular abnormalities, and an increased risk of developing neoplasms in sun-exposed areas of the skin, mucous membranes, and eyes. This paper describes the clinical outcome of pegylated interferon alpha 2b (PEG-IFN-alpha-2b) subconjunctival injections and topical mitomycin C (MMC) in the treatment of ocular surface squamous neoplasia (OSSN) in patients with XP. Read More

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http://dx.doi.org/10.12659/AJCR.921301DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7161929PMC

Comprehensive germline mutation analysis and clinical profile in a large cohort of Brazilian xeroderma pigmentosum patients.

J Eur Acad Dermatol Venereol 2020 Apr 1. Epub 2020 Apr 1.

Centro de Oncologia, Hospital Sírio-Libanês, São Paulo, São Paulo, Brazil.

Background: Xeroderma pigmentosum (XP) patients present a high risk of developing skin cancer and other complications at an early age. This disease is characterized by mutations in the genes related to the DNA repair system.

Objectives: To describe the clinical and molecular findings in a cohort of 32 Brazilian individuals who received a clinical diagnosis of XP. Read More

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http://dx.doi.org/10.1111/jdv.16405DOI Listing

XPA: DNA Repair Protein of Significant Clinical Importance.

Int J Mol Sci 2020 Mar 22;21(6). Epub 2020 Mar 22.

Department of Genetics, Cancer Research Institute, Biomedical Research Center, Slovak Academy Sciences, 845 05 Bratislava, Slovak Republic.

The nucleotide excision repair (NER) pathway is activated in response to a broad spectrum of DNA lesions, including bulky lesions induced by platinum-based chemotherapeutic agents. Expression levels of NER factors and resistance to chemotherapy has been examined with some suggestion that NER plays a role in tumour resistance; however, there is a great degree of variability in these studies. Nevertheless, recent clinical studies have suggested Xeroderma Pigmentosum group A (XPA) protein, a key regulator of the NER pathway that is essential for the repair of DNA damage induced by platinum-based chemotherapeutics, as a potential prognostic and predictive biomarker for response to treatment. Read More

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http://dx.doi.org/10.3390/ijms21062182DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7139726PMC

Identification of a novel DDB2 mutation in a Chinese Han family with Xeroderma pigmentosum group E:a case report and literature review.

BMC Med Genet 2020 03 30;21(1):67. Epub 2020 Mar 30.

Department of Dermatology, Jinling Hospital, Nanjing University, School of Medicine, Nanjing, 210002, China.

Background: Xeroderma pigmentosum (XP) is a rare autosomal recessive genodermatosis. There are eight complementation groups of XP (XP-A to G and a variant form). XP-E is one of the least common forms, and XP-E patients are generally not diagnosed until they are adults due to a later onset of skin alterations. Read More

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http://dx.doi.org/10.1186/s12881-020-00997-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7106656PMC

Long-term effects of 222 nm ultraviolet radiation C sterilizing lamps on mice susceptible to ultraviolet radiation.

Photochem Photobiol 2020 Mar 29. Epub 2020 Mar 29.

Division of Dermatology, Department of Internal Related, Graduate School of Medicine, Kobe University, Kobe, Japan.

Germicidal lamps that emit primarily 254 nm ultraviolet radiation (UV) are routinely utilized for surface sterilization but cannot be used for human skin because they cause genotoxicity. As an alternative, 222 nm-UVC have been reported to exert sterilizing ability comparable to that of 254 nm-UVC without producing cyclobutane pyrimidine dimers (CPDs), the major DNA lesions caused by UV. However, there has been no clear evidence for safety in chronic exposure to skin, particularly with respect to carcinogenesis. Read More

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http://dx.doi.org/10.1111/php.13269DOI Listing

Cryo-EM structures of the XPF-ERCC1 endonuclease reveal how DNA-junction engagement disrupts an auto-inhibited conformation.

Nat Commun 2020 02 28;11(1):1120. Epub 2020 Feb 28.

Signalling and Structural Biology Laboratory, Francis Crick Institute, NW1 1AT, London, UK.

The structure-specific endonuclease XPF-ERCC1 participates in multiple DNA damage repair pathways including nucleotide excision repair (NER) and inter-strand crosslink repair (ICLR). How XPF-ERCC1 is catalytically activated by DNA junction substrates is not currently understood. Here we report cryo-electron microscopy structures of both DNA-free and DNA-bound human XPF-ERCC1. Read More

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http://dx.doi.org/10.1038/s41467-020-14856-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7048804PMC
February 2020

NK Cell and Fibroblast-Mediated Regulation of Skin Squamous Cell Carcinoma Invasion by CLEC2A Is Compromised in Xeroderma Pigmentosum.

J Invest Dermatol 2020 Feb 13. Epub 2020 Feb 13.

Université Côte d'Azur, INSERM, CNRS, Institute for Research on Cancer and Aging, Nice, U1081, UMR7284, Nice, France. Electronic address:

The ability of cancer cells to invade and disseminate can be affected by components of the surrounding microenvironment. To identify dermal components that regulate the growth of epidermal carcinomas, we studied the genetic disease called xeroderma pigmentosum that bears mutations in genes involved in the nucleotide excision repair of DNA. Patients with xeroderma pigmentosum are more prone to develop cutaneous tumors than the general population and their dermal fibroblasts display the features of dermal cancer-associated fibroblasts, which promote the invasion of keratinocytes. Read More

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http://dx.doi.org/10.1016/j.jid.2020.01.021DOI Listing
February 2020

The past, present, and future of modeling Cockayne Syndrome - A commentary on "Rat Model of Cockayne Syndrome Neurological Disease".

DNA Repair (Amst) 2020 04 28;88:102788. Epub 2020 Jan 28.

Laboratory of Neurogenetics, National Institute on Alcohol Abuse and Alcoholism, and Office of Rare Disease Research, National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD 20892, United States.

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http://dx.doi.org/10.1016/j.dnarep.2020.102788DOI Listing

A novel nonsense mutation of in a Vietnamese family with xeroderma pigmentosum syndrome group D.

Hum Genome Var 2020 10;7. Epub 2020 Feb 10.

Department of Hematology and Dermatology, University Medical Center 3, Ho Chi Minh City, Vietnam.

Xeroderma pigmentosum (XP) group D, a severe disease often typified by extreme sun sensitivity, can be caused by mutations. encodes an adenosine triphosphate (ATP)-dependent DNA helicase, namely XP group D protein (XPD). The XPD, one of ten subunits of the transcription factor TFIIH, plays a critical role in the nucleotide-excision repair (NER) pathway. Read More

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http://dx.doi.org/10.1038/s41439-020-0089-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7008115PMC
February 2020

Acetylation of XPF by TIP60 facilitates XPF-ERCC1 complex assembly and activation.

Nat Commun 2020 02 7;11(1):786. Epub 2020 Feb 7.

Department of Cell Biology, and Department of General Surgery of Sir Run Run Shaw Hospital, Zhejiang University School of Medicine, Hangzhou, 310058, China.

The XPF-ERCC1 heterodimer is a structure-specific endonuclease that is essential for nucleotide excision repair (NER) and interstrand crosslink (ICL) repair in mammalian cells. However, whether and how XPF binding to ERCC1 is regulated has not yet been established. Here, we show that TIP60, also known as KAT5, a haplo-insufficient tumor suppressor, directly acetylates XPF at Lys911 following UV irradiation or treatment with mitomycin C and that this acetylation is required for XPF-ERCC1 complex assembly and subsequent activation. Read More

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http://dx.doi.org/10.1038/s41467-020-14564-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7005904PMC
February 2020

Role of H3K18ac-regulated nucleotide excision repair-related genes in arsenic-induced DNA damage and repair of HaCaT cells.

Hum Exp Toxicol 2020 Feb 7:960327120903482. Epub 2020 Feb 7.

The Key Laboratory of Environmental Pollution Monitoring and Disease Control, Ministry of Education, School of Public Health, Guizhou Medical University, Guiyang, China.

Arsenic is an environmental poison and is a grade I human carcinogen that can cause many types of damage to the body. The skin is one of the main target organs of arsenic damage, but the molecular mechanisms underlying arsenic poisoning are not clear. Arsenic is an epigenetic agent. Read More

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http://dx.doi.org/10.1177/0960327120903482DOI Listing
February 2020

Large deletions in immunoglobulin genes are associated with a sustained absence of DNA Polymerase η.

Sci Rep 2020 Jan 28;10(1):1311. Epub 2020 Jan 28.

Centre National de la Recherche Scientifique UMR8200, Gustave Roussy, 94805, Villejuif, France.

Somatic hypermutation of immunoglobulin genes is a highly mutagenic process that is B cell-specific and occurs during antigen-driven responses leading to antigen specificity and antibody affinity maturation. Mutations at the Ig locus are initiated by Activation-Induced cytidine Deaminase and are equally distributed at G/C and A/T bases. This requires the establishment of error-prone repair pathways involving the activity of several low fidelity DNA polymerases. Read More

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http://dx.doi.org/10.1038/s41598-020-58180-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6987143PMC
January 2020

as a Model Organism to Understand the Effects during Development of TFIIH-Related Human Diseases.

Int J Mol Sci 2020 Jan 17;21(2). Epub 2020 Jan 17.

Departamento de Genética del Desarrollo y Fisiología Molecular, Instituto de Biotecnología, Universidad Nacional Autónoma de México, Cuernavaca Morelos 62250, Mexico.

Human mutations in the transcription and nucleotide excision repair (NER) factor TFIIH are linked with three human syndromes: xeroderma pigmentosum (XP), trichothiodystrophy (TTD) and Cockayne syndrome (CS). In particular, different mutations in the XPB, XPD and p8 subunits of TFIIH may cause one or a combination of these syndromes, and some of these mutations are also related to cancer. The participation of TFIIH in NER and transcription makes it difficult to interpret the different manifestations observed in patients, particularly since some of these phenotypes may be related to problems during development. Read More

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http://dx.doi.org/10.3390/ijms21020630DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7013941PMC
January 2020

New structural insights into the recognition of undamaged splayed-arm DNA with a single pair of non-complementary nucleotides by human nucleotide excision repair protein XPA.

Int J Biol Macromol 2020 Apr 18;148:466-474. Epub 2020 Jan 18.

School of Biomedical Sciences, The University of Hong Kong, Hong Kong, China. Electronic address:

XPA (Xeroderma pigmentosum complementation group A) is a core scaffold protein that plays significant roles in DNA damage verification and recruiting downstream endonucleases in the nucleotide excision repair (NER) pathway. Here, we present the 2.81 Å resolution crystal structure of the DNA-binding domain (DBD) of human XPA in complex with an undamaged splayed-arm DNA substrate with a single pair of non-complementary nucleotides. Read More

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http://dx.doi.org/10.1016/j.ijbiomac.2020.01.169DOI Listing

Association between Single Nucleotide Polymorphisms and Glioma Risk: A Systematic Literature Review.

Cancer Invest 2020 Mar 2;38(3):169-183. Epub 2020 Mar 2.

Postgraduate Program of the Northeast Network of Biotechnology (RENORBIO), Federal University of Piauí, Teresina, Brazil.

This study aimed to determine the main single nucleotide polymorphisms (SNPs) that are associated with an increased or decreased risk of glioma development in healthy individuals. We conducted a systematic review of the articles published in English on the PUBMED database between January 2008 and December 2017. Our search resulted in a total of 743 articles; however, only 56 were included in this review. Read More

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http://dx.doi.org/10.1080/07357907.2020.1719502DOI Listing

Basosquamous carcinoma and melanoma collision tumor in a child with xeroderma pigmentosum.

Pediatr Dermatol 2020 Mar 19;37(2):390-392. Epub 2020 Jan 19.

Dermatology Department, Ankara University School of Medicine, Ankara, Turkey.

Xeroderma pigmentosum (XP) is a rare autosomal recessive genodermatosis associated with hypersensitivity to ultraviolet radiation (UVR), being due to defects involving the nucleotide excision repair pathway. Patients with XP are prone to develop multiple cutaneous neoplasms including non-melanoma skin cancers and melanoma. Collision tumors in patients with XP have been reported in the literature including the following lesions, actinic keratosis, basal cell carcinoma, squamous cell carcinoma, and in situ melanoma. Read More

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http://dx.doi.org/10.1111/pde.14097DOI Listing

Quality of life in the photodermatoses: the hidden toll of photosensitivity.

Br J Dermatol 2020 May 20;182(5):1077. Epub 2020 Jan 20.

Photodermatology and National Xeroderma Pigmentosum Services, St John's Institute of Dermatology, Guy's and St Thomas' NHS Foundation Trust, London, U.K.

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http://dx.doi.org/10.1111/bjd.18804DOI Listing

Conjunctival melanoma in patients with xeroderma pigmentosum: a series of four cases.

Int Ophthalmol 2020 May 13;40(5):1143-1146. Epub 2020 Jan 13.

Operation Eyesight Universal Institute for Eye Cancer (VHV, SK), L V Prasad Eye Institute, Hyderabad, 500034, India.

Purpose: To study the demographic features, treatment, histopathology, and outcomes in patients of xeroderma pigmentosum (XP) with conjunctival melanoma.

Methods: Retrospective case series.

Results: The median age at presentation was 18 years (range 9-30 years). Read More

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http://dx.doi.org/10.1007/s10792-019-01279-2DOI Listing

How history and geography may explain the distribution in the Comorian archipelago of a novel mutation in DNA repair-deficient xeroderma pigmentosum patients.

Genet Mol Biol 2019 13;43(1 suppl 1):e20190046. Epub 2019 Dec 13.

Department of Medical Genetics, INSERM U781 CHU Félix Guyon, La Réunion, France.

Xeroderma pigmentosum (XP) is a rare, genetic, autosomal nucleotide excision repair-deficient disease characterized by sun-sensitivity and early appearance of skin and ocular tumors. Thirty-two black-skinned XP from Comoros, located in the Indian Ocean, were counted, rendering this area the highest world prevalence of XP. These patients exhibited a new homozygous XPC mutation at the 3'-end of the intron12 (IVS 12-1G>C) leading to the absence of XPC protein. Read More

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http://dx.doi.org/10.1590/1678-4685-GMB-2019-0046DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7198018PMC
December 2019

A key interaction with RPA orients XPA in NER complexes.

Nucleic Acids Res 2020 02;48(4):2173-2188

Department of Biochemistry, Vanderbilt University, Nashville, TN 37240-7917, USA.

The XPA protein functions together with the single-stranded DNA (ssDNA) binding protein RPA as the central scaffold to ensure proper positioning of repair factors in multi-protein nucleotide excision repair (NER) machinery. We previously determined the structure of a short motif in the disordered XPA N-terminus bound to the RPA32C domain. However, a second contact between the XPA DNA-binding domain (XPA DBD) and the RPA70AB tandem ssDNA-binding domains, which is likely to influence the orientation of XPA and RPA on the damaged DNA substrate, remains poorly characterized. Read More

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http://dx.doi.org/10.1093/nar/gkz1231DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7038936PMC
February 2020

Identification of a novel protein truncating mutation p.Asp98* in XPC associated with xeroderma pigmentosum in a consanguineous Pakistani family.

Mol Genet Genomic Med 2020 Feb 10;8(2):e1060. Epub 2020 Jan 10.

Diagnostic & Research Institute of Human Genetics, Medical University of Graz, Graz, Austria.

Background: Xeroderma pigmentosum (XP) is a rare genetic disorder, which is characterized by hyper-sensitivity to solar ultraviolet (UV) radiation. Clinical consequences of sun exposure are skin lesions and an increased risk of developing skin cancer. Genetic studies have identified eight genes associated with xeroderma pigmentosum. Read More

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http://dx.doi.org/10.1002/mgg3.1060DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7005610PMC
February 2020

Daylight photodynamic therapy is an option for the treatment of actinic keratosis in patients with xeroderma pigmentosum in Africa.

Photodiagnosis Photodyn Ther 2020 Mar 2;29:101631. Epub 2020 Jan 2.

Regional Dermatology Training Center, Kilimanjaro Chirstian Medical Center, Moshi, Tanzania.

Background: Xeroderma pigmentosum (XP) is a very rare and severe genetic disorder with a DNA repair defect of ultraviolet (UV)-induced damage. Photodynamic therapy (PDT) has been successfully used in XP patients to treat actinic keratosis (AK) and daylight PDT (DL-PDT) has demonstrated similar efficacy to conventional PDT (C-PDT) for AK.

Objectives: To assess DL-PDT for the treatment of AK in patients with XP. Read More

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http://dx.doi.org/10.1016/j.pdpdt.2019.101631DOI Listing

Tissue-infiltrating macrophages mediate an exosome-based metabolic reprogramming upon DNA damage.

Nat Commun 2020 01 2;11(1):42. Epub 2020 Jan 2.

Institute of Molecular Biology and Biotechnology, Foundation for Research and Technology-Hellas, GR70013, Heraklion, Crete, Greece.

DNA damage and metabolic disorders are intimately linked with premature disease onset but the underlying mechanisms remain poorly understood. Here, we show that persistent DNA damage accumulation in tissue-infiltrating macrophages carrying an ERCC1-XPF DNA repair defect (Er1) triggers Golgi dispersal, dilation of endoplasmic reticulum, autophagy and exosome biogenesis leading to the secretion of extracellular vesicles (EVs) in vivo and ex vivo. Macrophage-derived EVs accumulate in Er1 animal sera and are secreted in macrophage media after DNA damage. Read More

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http://dx.doi.org/10.1038/s41467-019-13894-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6940362PMC
January 2020
10.742 Impact Factor

Genetic diversity and functional effect of common polymorphisms in genes involved in the first heterodimeric complex of the Nucleotide Excision Repair pathway.

DNA Repair (Amst) 2020 02 12;86:102770. Epub 2019 Dec 12.

Laboratory of Biomedical Genomics and Oncogenetics, LR16IPT05, Institut Pasteur de Tunis, University of Tunis El Manar, Tunis, Tunisia.

Nucleotide excision repair is a multistep process that recognizes and eliminates a spectrum of DNA damages. Five proteins, namely XPC, RAD23, Centrin 2, DDB1 and DDB2 act as a heterodimeric complex at the early steps of the NER pathway and play a crucial role in the removal of DNA lesions. Several exonic mutations on genes coding for these proteins have been identified as associated with Xeroderma-pigmentosum (XP), a rare monogenic disorder. Read More

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http://dx.doi.org/10.1016/j.dnarep.2019.102770DOI Listing
February 2020

Immunoexpression of DNA base excision repair and nucleotide excision repair proteins in ameloblastomas, syndromic and non-syndromic odontogenic keratocysts and dentigerous cysts.

Arch Oral Biol 2020 Feb 3;110:104627. Epub 2019 Dec 3.

Department of Dentistry, Federal University of Rio Grande do Norte, Natal, RN, Brazil. Electronic address:

Objective: To evaluate the immunoexpression of DNA base excision repair (BER) [apurinic/apyrimidinic endonuclease 1 (APE-1), X-ray repair cross complementing 1 (XRCC-1)] and nucleotide excision repair (NER) [xeroderma pigmentosum complementation group (XPF)] proteins in benign epithelial odontogenic lesions with different biological behaviors.

Design: Thirty solid ameloblastomas, 30 non-syndromic odontogenic keratocysts (NSOKCs), 29 syndromic odontogenic keratocysts (SKOCs), 30 dentigerous cysts (DCs) and 20 dental follicles (DFs) were evaluated quantitatively for APE-1, XRCC-1 and XPF through immunohistochemistry.

Results: Nuclear expression of APE-1 was significantly higher in NSOKCs, SOKCs, and ameloblastomas in comparison to DCs (p < 0. Read More

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http://dx.doi.org/10.1016/j.archoralbio.2019.104627DOI Listing
February 2020

Whole-exome sequencing reveals the impact of UVA light mutagenesis in xeroderma pigmentosum variant human cells.

Nucleic Acids Res 2020 02;48(4):1941-1953

Department of Microbiology, Institute of Biomedical Sciences, University of Sao Paulo, Sao Paulo, SP, Brazil.

UVA-induced mutagenesis was investigated in human pol eta-deficient (XP-V) cells through whole-exome sequencing. In UVA-irradiated cells, the increase in the mutation frequency in deficient cells included a remarkable contribution of C>T transitions, mainly at potential pyrimidine dimer sites. A strong contribution of C>A transversions, potentially due to oxidized bases, was also observed in non-irradiated XP-V cells, indicating that basal mutagenesis caused by oxidative stress may be related to internal tumours in XP-V patients. Read More

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http://dx.doi.org/10.1093/nar/gkz1182DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7038989PMC
February 2020
9.112 Impact Factor

In vivo confocal microscopy of dermoscopic suspicious lesions in patients with xeroderma pigmentosum: A cross-sectional study.

J Am Acad Dermatol 2019 Dec 14. Epub 2019 Dec 14.

Hospital das Clínicas of São Paulo University, São Paulo, Brazil.

Background: Xeroderma pigmentosum (XP) is a rare genetic disease characterized by extreme photosensitivity, resulting in a higher incidence of cutaneous tumors. Reflectance confocal microscopy (RCM) is a noninvasive imaging method for diagnosing cutaneous lesions.

Objective: To explore the application of RCM in the follow-up of patients with XP. Read More

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http://dx.doi.org/10.1016/j.jaad.2019.12.018DOI Listing
December 2019

XPC beyond nucleotide excision repair and skin cancers.

Mutat Res 2019 Oct - Dec;782:108286. Epub 2019 Jul 8.

PRASE, Laboratory of Stem Cells, Lebanese University, Beirut, Lebanon; Biology Department, Faculty of Sciences-I, Lebanese University, Beirut, Lebanon. Electronic address:

Xeroderma pigmentosum group C (XPC) has been known as a DNA damage recognition factor of bulky adducts and as an initiator of global genome nucleotide excision repair (GG-NER). XP-C patients have been shown to have a predisposition to develop skin and certain internal cancers. Recent studies have shown that XPC presents several functional and molecular interactions with fundamental players in several other DNA repair pathways including base excision repair (BER). Read More

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http://dx.doi.org/10.1016/j.mrrev.2019.108286DOI Listing
March 2020
3.680 Impact Factor

Detection of the small oligonucleotide products of nucleotide excision repair in UVB-irradiated human skin.

DNA Repair (Amst) 2020 02 5;86:102766. Epub 2019 Dec 5.

Department of Pharmacology and Toxicology, Wright State University Boonshoft School of Medicine, Dayton, OH 45435, United States. Electronic address:

UVB radiation results in the formation of potentially mutagenic photoproducts in the DNA of epidermal skin cells. In vitro approaches have demonstrated that the nucleotide excision repair (NER) machinery removes UV photoproducts from DNA in the form of small (∼30-nt-long), excised, damage-containing DNA oligonucleotides (sedDNAs). Though this process presumably takes place in human skin exposed to UVB radiation, sedDNAs have not previously been detected in human skin. Read More

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http://dx.doi.org/10.1016/j.dnarep.2019.102766DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6960337PMC
February 2020

Zoledronate-responsive calcitriol-mediated hypercalcemia in a 5-year-old case with squamous cell carcinoma on the background of xeroderma pigmentosum.

J Pediatr Endocrinol Metab 2019 Dec;32(12):1403-1406

Division of Pediatric Endocrinology, Department of Pediatrics, Koc University School of Medicine, Istanbul, Turkey.

Malignancy-induced hypercalcemia is a very rare condition in children whereas it is more common among adult patients with malignancy. The mechanisms of malignancy-induced hypercalcemia include the over-secretion of parathyroid hormone-related protein (PTHrP), osteolytic metastases and the over-production of 1,25-dihydroxyvitamin D (calcitriol). Although hypercalcemia due to PTHrP secretion has been published before, overproduction of calcitriol has not been reported yet in pediatric squamous cell skin carcinoma cases. Read More

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http://dx.doi.org/10.1515/jpem-2019-0158DOI Listing
December 2019

Xeroderma Pigmentosum: Ocular Findings in an Isolated Brazilian Group with an Identified Genetic Cluster.

J Ophthalmol 2019 31;2019:4818162. Epub 2019 Oct 31.

Department of Ophthalmology, Federal University of Goias, Goiania, Brazil.

Purpose: Xeroderma pigmentosum (XP) is a rare autosomal recessive genetic disorder characterized by increased susceptibility to UV radiation- (UVR-) induced skin pigmentation, skin cancers, ocular surface disease, and, in some patients, sunburn and neurological degeneration. Eight different genes are affected, and the prevalence of the disease differs across the world. The present study describes the main ophthalmologic features and symptoms in patients with XP in this case series. Read More

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http://dx.doi.org/10.1155/2019/4818162DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6875256PMC
October 2019

Forms, interactions, and responses to social support: A qualitative study of support and adherence to photoprotection amongst patients with Xeroderma Pigmentosum.

Br J Health Psychol 2020 02 22;25(1):89-106. Epub 2019 Nov 22.

Faculty of Life Sciences and Medicine, School of Cancer and Pharmaceutical Sciences, King's College London, UK.

Objectives: Social support influences adherence to treatment in chronic illness, but there is uncertainty about its facilitators and constraints. This study explored the forms, processes, and responses associated with mobilization of informal support across three life contexts amongst patients with Xeroderma Pigmentosum (XP), a condition requiring rigorous photoprotection to reduce cancer risks.

Design: Qualitative interview study. Read More

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http://dx.doi.org/10.1111/bjhp.12396DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7004138PMC
February 2020

Association of XPD Asp312Asn polymorphism and response to oxaliplatin-based first-line chemotherapy and survival in patients with metastatic colorectal cancer.

Adv Clin Exp Med 2019 Nov;28(11):1459-1468

Department of Cancer Biology, Wake Forest School of Medicine, Winston-Salem, USA.

Background: Identification of biomarkers predicting a response to chemotherapeutic drugs would greatly ease the selection of personalized therapy. The protein xeroderma pigmentosum group D (XPD) functions in nucleotide excision repair (NER) to remove DNA cross-links and in the regulation of transcription. The potential role of the Asp312Asn polymorphism in predicting the response to chemotherapy has not been established. Read More

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http://dx.doi.org/10.17219/acem/108552DOI Listing
November 2019
0.333 Impact Factor

Ipsilateral presentation of ocular surface squamous neoplasia and conjunctival melanoma in xeroderma pigmentosum: A rare occurrence.

Indian J Ophthalmol 2019 12;67(12):2068-2071

Laboratory Services, Dr Shroff's Charity Eye Hospital, New Delhi, India.

A case of a 16-year-old male with xeroderma pigmentosum (XP) who presented with multiple pigmented and nonpigmented conjunctival lesions in both eyes is reported. He had a keratinized lesion at the limbus and a pigmented lesion in bulbar conjunctiva in the left eye and multiple pigmented bulbar conjunctival lesions and a keratinized limbal nodule in the right eye. Excision biopsy confirmed the diagnosis of ocular surface squamous neoplasia (OSSN) and conjunctival intraepithelial melanocytic neoplasia-2 (CIMN-2) in the right eye and OSSN and conjunctival melanoma in situ (CIMN-5) in the left eye. Read More

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http://dx.doi.org/10.4103/ijo.IJO_1449_19DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6896572PMC
December 2019

Some mutations in the xeroderma pigmentosum D gene may lead to moderate but significant radiosensitivity associated with a delayed radiation-induced ATM nuclear localization.

Int J Radiat Biol 2020 Mar 26;96(3):394-410. Epub 2019 Nov 26.

Institut National de la Santé et de la Recherche Médicale, UA8 Unit, "Radiations: Defense, Health and Environment" Centre Léon-Bérard, Lyon, France.

Xeroderma Pigmentosum (XP) is a rare, recessive genetic disease associated with photosensitivity, skin cancer proneness, neurological abnormalities and impaired nucleotide excision repair of the UV-induced DNA damage. Less frequently, XP can be associated with sensitivity to ionizing radiation (IR). Here, a complete radiobiological characterization was performed on a panel of fibroblasts derived from XP-group D patients (XPD). Read More

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http://dx.doi.org/10.1080/09553002.2020.1694189DOI Listing

Comprehensive assessment of the association between XPC rs2228000 and cancer susceptibility based on 26835 cancer cases and 37069 controls.

Biosci Rep 2019 Dec;39(12)

Department of Interventional Therapy, Tianjin Medical University Cancer Institute and Hospital, National Clinical Research Center for Cancer, Tianjin 300060, P.R. China.

Objectives In the present study, we examined available articles from online databases to comprehensively investigate the effect of the XPC (xeroderma pigmentosum complementation group C) rs2228000 polymorphism on the risk of different types of clinical cancer. Methods We conducted a group of overall and subgroup pooling analyses after retrieving the data from four databases (updated till September 2019). The P-value of association, OR (odds ratios), and 95% CI (confidence interval) were calculated. Read More

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http://dx.doi.org/10.1042/BSR20192452DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6893172PMC
December 2019

Unusual intraoral cancer with unexpected outcome in a patient with xeroderma pigmentosum: An alert for antineoplastic treatment.

Oral Surg Oral Med Oral Pathol Oral Radiol 2020 Jan 12;129(1):e1-e11. Epub 2019 Oct 12.

Department of Dentistry, State University of Maringá, Maringá, PR, Brazil.

Xeroderma pigmentosum (XP) is a rare autosomal disorder characterized by extreme sensitivity to ultraviolet radiation. DNA repair mechanisms are impaired, and minimal sun exposure can lead to the development of cutaneous neoplasms in very young patients. Intraoral carcinomas are uncommon and, when present, are located mainly at the tongue tip. Read More

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http://dx.doi.org/10.1016/j.oooo.2019.09.017DOI Listing
January 2020