6,604 results match your criteria Xeroderma Pigmentosum


XPG in the Nucleotide Excision Repair and Beyond: a study on the different functional aspects of XPG and its associated diseases.

Mol Biol Rep 2022 May 20. Epub 2022 May 20.

Department of Biotechnology, SRM Institute of Science and Technology, 603203, Kattankulathur, Tamil Nadu, India.

Several proteins are involved in DNA repair mechanisms attempting to repair damages to the DNA continuously. One such protein is Xeroderma Pigmentosum Complementation Group G (XPG), a significant component in the Nucleotide Excision Repair (NER) pathway. XPG is accountable for making the 3' incision in the NER, while XPF-ERCC4 joins ERCC1 to form the XPF-ERCC1 complex. Read More

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Advanced basal cell carcinoma: What dermatologists need to know about diagnosis.

J Am Acad Dermatol 2022 06;86(6S):S1-S13

St. Luke's Cancer Center, Easton.

Basal cell carcinoma (BCC) is the most common human cancer, with approximately 3.6 million cases diagnosed each year. About 2000 deaths annually in the United States are attributed to basal and squamous cell skin cancers. Read More

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XPA Enhances Temozolomide Resistance of Glioblastoma Cells by Promoting Nucleotide Excision Repair.

Cell Transplant 2022 Jan-Dec;31:9636897221092778

Department of Neurosurgery, Quzhou Hospital affiliated of Wenzhou Medical University, Quzhou People's Hospital, Quzhou, China.

Glioblastoma is the most frequent, as well as aggressive kind of high-grade malignant glioma. Chemoresistance is posing a significant clinical barrier to the efficacy of temozolomide-based glioblastoma treatment. By suppressing xeroderma pigmentosum group A (XPA), a pivotal DNA damage recognition protein implicated in nucleotide excision repair (NER), we devised a novel method to enhance glioblastoma therapy and alleviate temozolomide resistance. Read More

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Management of coexisting bilateral ocular surface disease in xeroderma pigmentosum - sequence and outcomes.

Eur J Ophthalmol 2022 May 9:11206721221100903. Epub 2022 May 9.

Medical Research Foundation, 29853Sankara Nethralaya, Chennai, Tamil Nadu, India.

Purpose: To report a rare presentation of bilateral, coexisting ocular surface disease in a case of Xeroderma pigmentosum and its successful management.

Methods: Case report.

Results: A 21-year-old male with Xeroderma pigmentosum presented with bilateral ocular surface squamous neoplasia (OSSN) along with central guttae in the right eye and corneal decompensation of the left eye. Read More

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Xeroderma Pigmentosum Complementation Group C (XPC): Emerging Roles in Non-Dermatologic Malignancies.

Front Oncol 2022 21;12:846965. Epub 2022 Apr 21.

Division of Pulmonary, Critical Care, Sleep and Occupational Medicine, Department of Medicine, Indiana University School of Medicine, Indianapolis, IN, United States.

Xeroderma pigmentosum complementation group C (XPC) is a DNA damage recognition protein essential for initiation of global-genomic nucleotide excision repair (GG-NER). Humans carrying germline mutations in the gene exhibit strong susceptibility to skin cancer due to defective removal GG-NER of genotoxic, solar UV-induced dipyrimidine photoproducts. However, XPC is increasingly recognized as important for protection against non-dermatologic cancers, not only through its role in GG-NER, but also by participating in other DNA repair pathways, in the DNA damage response and in transcriptional regulation. Read More

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Poikiloderma with neutropenia: An alternate presentation with dyspigmentation and novel USB1 mutation.

Pediatr Dermatol 2022 May 6. Epub 2022 May 6.

Department of Dermatology, University of Minnesota, Minneapolis, Minnesota, USA.

Two siblings presented with sun sensitivity and progressive dyspigmentation. A diagnosis of xeroderma pigmentosum was initially favored due to XPC mutations, although variants were not clearly diagnostic. However, new moderate neutropenia and homozygous suspected pathogenic variants in USB1 led to diagnosis of poikiloderma with neutropenia. Read More

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Xeroderma pigmentosum: an updated review.

Drugs Context 2022 25;11. Epub 2022 Apr 25.

Department of Paediatrics, Hong Kong Institute of Integrative Medicine, The Chinese University of Hong Kong, Hong Kong.

Background: Early recognition of xeroderma pigmentosum is important to minimize the complications arising from the harmful effects of exposure to ultraviolet radiation. This narrative review aims to familiarize physicians with the clinical features, diagnosis and management of xeroderma pigmentosum.

Methods: A search was conducted in December 2021 in PubMed Clinical Queries using the key term "xeroderma pigmentosum". Read More

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Impact of Polymorphism in Base Excision Repair and Nucleotide Excision Repair Genes and Risk of Cervical Cancer: A Case-Control Study.

Asian Pac J Cancer Prev 2022 Apr 1;23(4):1291-1300. Epub 2022 Apr 1.

Department of Molecular Biology, Genetics Krishna Institute of Medical Sciences, Deemed to Be University Malkapur, Karad Satara, Maharashtra, Pin: 415 539, India.

Background: Last few years, several studies all over the world revealed the association of DNA repair genes with risk of developing different type of cancers, but were ambiguous to support the evidences in case of cervical cancer risk. These differences in earlier studies directed us to study the association of polymorphisms of BER genes (XRCC1, hOGG1, XPC) and NER genes (XPC, XPD) with cervical cancer susceptibility in the women of rural population of Maharashtra.

Materials And Methods: The genetic polymorphism in BER and NER pathway genes was studied by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method using DNA isolated from intravenous blood samples of patients and normal controls. Read More

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Role of Xeroderma pigmentosum D (XPD) protein in genome maintenance in human cells under oxidative stress.

Mutat Res Genet Toxicol Environ Mutagen 2022 Apr-May;876-877:503444. Epub 2022 Jan 15.

Department of Physiology, Yong Loo Lin School of Medicine, National University of Singapore, Singapore; Vellore Institute of Technology, Vellore, India; Mangalore University, India. Electronic address:

Xeroderma pigmentosum D (XPD) protein plays a pivotal role in the nucleotide excision repair pathway. XPD unwinds the local area of the damaged DNA by virtue of constituting transcription factor II H (TFIIH) and is important not only for repair but also for basal transcription. Although cells deficient in XPD have shown to be defective in oxidative base-lesion repair, the effects of the oxidative assault on primary fibroblasts from patients suffering from Xeroderma Pigmentosum D have not been fully explored. Read More

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Radiotherapy and radiosensitivity syndromes in DNA repair gene mutations.

Klin Onkol 2022 ;35(2):119-127

Background: Ionizing radiation DNA damage is the main mechanism of radiotherapy (RT) action and the outcome of treatment and healthy tissue toxicity is influenced by a number of external and internal factors, including mutations in DNA damage recognition and repair. Disorders of DNA repair may result in increased sensitivity to cancer treatment.

Purpose: The mechanism of DNA repair and an overview of genetic syndromes with mutations in genes involved in DNA repair clarify the accelerated carcinogenesis and increased radiosensitivity in RT cancers. Read More

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Photorepair of Either CPD or 6-4PP DNA Lesions in Basal Keratinocytes Attenuates Ultraviolet-Induced Skin Effects in Nucleotide Excision Repair Deficient Mice.

Front Immunol 2022 29;13:800606. Epub 2022 Mar 29.

Departamento de Microbiologia, Instituto de Ciências Biomédicas, Universidade de São Paulo, São Paulo, Brazil.

Ultraviolet (UV) radiation is one of the most genotoxic, universal agents present in the environment. UVB (280-315 nm) radiation directly damages DNA, producing cyclobutane pyrimidine dimers (CPDs) and pyrimidine 6-4 pyrimidone photoproducts (6-4PPs). These photolesions interfere with essential cellular processes by blocking transcription and replication polymerases, and may induce skin inflammation, hyperplasia and cell death eventually contributing to skin aging, effects mediated mainly by keratinocytes. Read More

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Basal cell carcinoma derived from epidermal cyst of the knee of a patient with xeroderma pigmentosum group C.

J Dermatol 2022 Apr 12. Epub 2022 Apr 12.

Department of Dermatology, Graduate School of Medicine, Kobe University, Kobe, Japan.

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Xeroderma Pigmentosum-Associated Childhood Interstitial Lung Disease.

Turk Thorac J 2022 Mar;23(2):192-195

TNMC and BYL Nair Hospital, Pulmonary Department, Mumbai, India.

Chromosomal breakage syndromes are a group of genetic disorders that are ascribable to the autosomal recessive mode of inheritance. Xeroderma pigmentosum is one of the chromosomal breakage syndromes which is due to the involvement of deformity in the deoxyribonucleic acid's nucleotide excision repair. Xeroderma pigmentosum is a genetic disorder, which is autosomal recessive, heterogeneous, and more common in cases of consanguinity, caused by mutations in at least 10 genes and 9 complementation groups. Read More

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Identifying the psychosocial predictors of ultraviolet exposure to the face in patients with xeroderma pigmentosum: a study of the behavioural factors affecting clinical outcomes in this genetic disease.

J Med Genet 2022 Apr 7. Epub 2022 Apr 7.

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

Background: For patients with xeroderma pigmentosum (XP), the main means of preventing skin and eye cancers is extreme protection against ultraviolet radiation (UVR), particularly for the face. We have recently developed a methodology for objectively measuring photoprotection behaviour ('UVR dose to facial skin') and have found that the degree of photoprotection varies greatly between patients with XP. We have previously identified factors affecting photoprotection behaviour in XP using a subjective measure of photoprotection. Read More

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Xeroderma pigmentosum presenting in two siblings from Uganda.

J Osteopath Med 2022 Apr 1. Epub 2022 Apr 1.

Kansas City University at Advanced Dermatology and Cosmetic Surgery, Orlando, FL, USA.

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Identification of Frameshift Variants in Gene Causing Xeroderma Pigmentosum in Two Consanguineous Pakistani Families.

Genes (Basel) 2022 03 19;13(3). Epub 2022 Mar 19.

Medical Genetics Research Laboratory, Department of Biotechnology, Quaid-i-Azam University, Islamabad 45320, Pakistan.

Xeroderma pigmentosum (XP) is a rare autosomal recessive genetic disorder characterized by severe sensitivity of skin to sunlight and an increased risk of skin cancer. XP variant (XPV), a milder subtype, is caused by variants in the gene. encodes an error-prone DNA-polymerase eta (pol eta) which performs translesion synthesis past ultraviolet photoproducts. Read More

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Current Therapeutic Strategies of Xeroderma Pigmentosum.

Indian J Dermatol 2021 Nov-Dec;66(6):660-667

Department of Biochemistry and Molecular Biology, Jahangirnagar University, Dhaka, Bangladesh.

Xeroderma pigmentosum (XP) is an autosomal recessive genetic disease caused by a defect in the DNA repair system, exhibiting skin cancer on sun exposure. As it is an incurable disease, therapeutic strategies of this disease are critical. This review article takes an attempt to explore the current therapeutic advancements in XP. Read More

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Increased risk of internal tumors in DNA repair-deficient xeroderma pigmentosum patients: analysis of four international cohorts.

Orphanet J Rare Dis 2022 03 4;17(1):104. Epub 2022 Mar 4.

Laboratory of Genome Integrity and Cancers, CNRS UMR9019, Gustave Roussy Institute, Université Paris-Saclay, 114 rue Edouard Vaillant, 94805, Villejuif, France.

Background: Xeroderma pigmentosum (XP) is a rare, autosomal, recessive DNA repair-deficiency disorder with a frequency of 1-3 per million livebirths in Europe and USA but with higher frequencies in isolated islands or in countries with a high level of consanguinity. XP is characterized by high incidence of skin cancers on sun-exposed sites. Recent improvement in life expectancy of XP patients suggests an increased risk of frequently aggressive and lethal internal tumors. Read More

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Mapping of the regions implicated in nuclear localization of multi-functional DNA repair endonuclease XPF-ERCC1.

Genes Cells 2022 May 8;27(5):356-367. Epub 2022 Mar 8.

Laboratory of Human Molecular Genetics, Institute of Medical, Pharmaceutical and Health Sciences, Kanazawa University, Kanazawa, Japan.

The structure-specific endonuclease XPF-ERCC1 is a multi-functional heterodimer that participates in a variety of DNA repair mechanisms for maintaining genome integrity. Both subunits contain C-terminal tandem helix-hairpin-helix (HhH ) domains, which are necessary for not only their dimerization but also enzymatic activity as well as protein stability. However, the interdependency of both subunits in their nuclear localization remains poorly understood. Read More

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Xeroderma pigmentosum in a Malaysian child with identification of a novel homozygous nonsense mutation in XPC c.2167C>T.

Int J Dermatol 2022 Mar 2. Epub 2022 Mar 2.

Paediatric Dermatology Unit, Department of Paediatrics, Women & Children Hospital Kuala Lumpur, Malaysia.

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XPG: a multitasking genome caretaker.

Cell Mol Life Sci 2022 Mar 1;79(3):166. Epub 2022 Mar 1.

Department of Molecular Genetics, Erasmus MC Cancer Institute, Oncode Institute, Erasmus University Medical Center, Rotterdam, The Netherlands.

The XPG/ERCC5 endonuclease was originally identified as the causative gene for Xeroderma Pigmentosum complementation group G. Ever since its discovery, in depth biochemical, structural and cell biological studies have provided detailed mechanistic insight into its function in excising DNA damage in nucleotide excision repair, together with the ERCC1-XPF endonuclease. In recent years, it has become evident that XPG has additional important roles in genome maintenance that are independent of its function in NER, as XPG has been implicated in protecting replication forks by promoting homologous recombination as well as in resolving R-loops. Read More

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Elevated Levels of Soluble CTLA-4, PD-1, PD-L1, LAG-3 and TIM-3 and Systemic Inflammatory Stress as Potential Contributors to Immune Suppression and Generalized Tumorigenesis in a Cohort of South African Xeroderma Pigmentosum Patients.

Front Oncol 2022 11;12:819790. Epub 2022 Feb 11.

Department of Immunology, School of Medicine, Faculty of Health Sciences, University of Pretoria, Pretoria, South Africa.

Xeroderma Pigmentosum (XP), an autosomal recessive disorder characterized by ultraviolet radiation-induced abnormalities of DNA excision and repair pathways is associated with early development of cutaneous cancers. Intracellular oxidative stress has also been proposed as a contributor to the occurrence of skin cancers. However, little is known about the possible augmentative contributions of chronic inflammation, immune suppression and oxidative stress to the pathogenesis of malignancies associated with other subtypes of XP. Read More

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February 2022

Nucleotide Excision Repair Pathway Activity Is Inhibited by Airborne Particulate Matter (PM) through XPA Deregulation in Lung Epithelial Cells.

Int J Mol Sci 2022 Feb 17;23(4). Epub 2022 Feb 17.

Subdirección de Investigación Básica, Instituto Nacional de Cancerología, San Fernando No. 22, Tlalpan 14080, Mexico.

Airborne particulate matter with a diameter size of ≤10 µm (PM) is a carcinogen that contains polycyclic aromatic hydrocarbons (PAH), which form PAH-DNA adducts. However, the way in which these adducts are managed by DNA repair pathways in cells exposed to PM has been partially described. We evaluated the effect of PM on nucleotide excision repair (NER) activity and on the levels of different proteins of this pathway that eliminate bulky DNA adducts. Read More

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February 2022

Potential UV-Protective Effect of Freestanding Biodegradable Nanosheet-Based Sunscreen Preparations in -Deficient Mice.

Pharmaceutics 2022 Feb 17;14(2). Epub 2022 Feb 17.

Department of Applied Chemistry, School of Engineering, Tokai University, 4-1-1 Kitakaname, Hiratsuka 259-1292, Japan.

Xeroderma pigmentosum (XP) is a rare autosomal recessive hereditary disorder. As patients with XP are deficient in nucleotide excision repair, they show severe photosensitivity symptoms. Although skin protection from ultraviolet (UV) radiation is essential to improve the life expectancy of such patients, the optimal protective effect is not achieved even with sunscreen application, owing to the low usability of the preparations. Read More

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February 2022

Global and transcription-coupled repair of 8-oxoG is initiated by nucleotide excision repair proteins.

Nat Commun 2022 02 21;13(1):974. Epub 2022 Feb 21.

Molecular Genetics and Developmental Biology graduate program, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.

UV-DDB, consisting of subunits DDB1 and DDB2, recognizes UV-induced photoproducts during global genome nucleotide excision repair (GG-NER). We recently demonstrated a noncanonical role of UV-DDB in stimulating base excision repair (BER) which raised several questions about the timing of UV-DDB arrival at 8-oxoguanine (8-oxoG), and the dependency of UV-DDB on the recruitment of downstream BER and NER proteins. Using two different approaches to introduce 8-oxoG in cells, we show that DDB2 is recruited to 8-oxoG immediately after damage and colocalizes with 8-oxoG glycosylase (OGG1) at sites of repair. Read More

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February 2022

Biomarker signatures for primary radiochemotherapy of locally advanced HNSCC - Hypothesis generation on a multicentre cohort of the DKTK-ROG.

Radiother Oncol 2022 Apr 16;169:8-14. Epub 2022 Feb 16.

German Cancer Research Center (DKFZ), Heidelberg, Germany, and German Cancer Consortium (DKTK), partner site Dresden, Germany; OncoRay - National Center for Radiation Research in Oncology, Faculty of Medicine and University Hospital Carl Gustav Carus, Technische Universität Dresden, Helmholtz-Zentrum Dresden - Rossendorf, Germany; German Cancer Research Center (DKFZ), Heidelberg, Germany.

Purpose: To develop prognostic biomarker signatures for patients with locally advanced head and neck squamous cell carcinoma (HNSCC) treated by primary radiochemotherapy (RCTx) based on previously published molecular analyses of the retrospective biomarker study of the German Cancer Consortium - Radiation Oncology Group (DKTK-ROG).

Material And Methods: In previous studies on the retrospective DKTK-ROG HNSCC cohort treated with primary RCTx, the following clinical parameters and biomarkers were evaluated and found to be significantly associated with loco-regional tumour control (LRC) or overall survival (OS): tumour volume, p16 status, expression of cancer stem cell markers CD44 and SLC3A2, expressions of hypoxia-associated gene signatures, tumour mutational burden (TMB), single nucleotide polymorphisms (SNPs) in the ERCC2 gene (rs1799793, rs13181) and ERCC5 gene (rs17655) as well as the expression of CXCR4, SDF-1 and CD8. These biomarkers were combined in multivariable modelling using Cox-regression with backward variable selection. Read More

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Multiple pilomatricomas in a child with xeroderma pigmentosum: Coincidence or association?

Pediatr Dermatol 2022 Feb 17. Epub 2022 Feb 17.

Department of Dermatology, Hospital Universitari i Politècnic La Fe, Valencia, Spain.

The association of multiple pilomatricomas with xeroderma pigmentosum has not been described. We report a case of a child with multiple pilomatricomas and photosensitivity who was found to have a pathogenic variant in exon 4 of XPA and a likely pathogenic variant in COL6A1. Read More

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February 2022

The Prognostic and Predictive Role of Xeroderma Pigmentosum Gene Expression in Melanoma.

Front Oncol 2022 31;12:810058. Epub 2022 Jan 31.

Clinic and Policlinic for Dermatology and Venereology, Rostock University Medical Center, Rostock, Germany.

Background: Assessment of immune-specific markers is a well-established approach for predicting the response to immune checkpoint inhibitors (ICIs). Promising candidates as ICI predictive biomarkers are the DNA damage response pathway genes. One of those pathways, which are mainly responsible for the repair of DNA damage caused by ultraviolet radiation, is the nucleotide excision repair (NER) pathway. Read More

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January 2022

Cutaneous Neurocristic Hamartoma Mimicking Basal Cell Carcinoma in a Patient With Xeroderma Pigmentosum.

Am J Dermatopathol 2022 May;44(5):e54-e56

Department of Dermatopathology, University of Virginia, Charlottesville, VA.

Abstract: Neurocristic hamartomas (NCH) of cutaneous origin are especially rare congenital or acquired neoplasms that often arise through aberrant embryologic development of pluripotent neural crest cells. Clinically, they often present as pigmented macules or papules on the scalp with associated alopecia. NCHs are characterized histopathologically by dermal melanocytic, fibroblastic, and neurosustentacular components. Read More

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