6,446 results match your criteria Xeroderma Pigmentosum

Polymorphism of the DNA repair gene XDP increases the risk of systemic lupus erythematosus but not multiple sclerosis in the Iranian population.

Mult Scler Relat Disord 2021 Apr 28;52:102985. Epub 2021 Apr 28.

Physiology Research Center, Institute of Neuropharmacology, Kerman University of Medical Sciences, Kerman, Iran. Electronic address:

Background: Xeroderma pigmentosum group D ( XPD ) is an essential component of the nucleotide excision repair (NER) pathway, which can play a major role in DNA repair processes. A deficiency in this pathway was suggested as a causative factor of autoimmune diseases. Therefore, the current study aimed to investigate the relationship between XPD Lys751Gln polymorphism (rs13181) as one of the most common XDP polymorphisms and the risk of two important auto-immune diseases,namely systemic lupus erythematosus (SLE) and multiple sclerosis (MS) in the Iranian population. Read More

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Genodermatoses in Las Tunas Province, Cuba, 1989-2019.

MEDICC Rev 2021 Apr 30;23(2). Epub 2021 Apr 30.

Provincial Medical Genetics Department, Las Tunas, Cuba.

Introduction: INTRODUCTION Genodermatoses are a group of genetic diseases that affect the skin and adjoining tissues. They represent 15% of genetic diseases worldwide. Cuba established a National Program for the Diagnosis, Care and Prevention of Genetic Diseases and Congenital Abnormalities in 1980, which was implemented in Las Tunas in 1989. Read More

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Tailoring Supramolecular Prodrug Nanoassemblies for Reactive Nitrogen Species-Potentiated Chemotherapy of Liver Cancer.

ACS Nano 2021 Apr 30. Epub 2021 Apr 30.

MOE Key Laboratory of Macromolecule Synthesis and Functionalization of Ministry of Education, Department of Polymer Science and Engineering, Zhejiang University, Hangzhou 310027, People's Republic of China.

The development of a controllable reactive nitrogen species (RNS) generation system for cancer treatment has remained elusive. Herein, a supramolecular prodrug nanoassemblies (SPNA) strategy that co-delivers a nitric oxide (NO) donor and a superoxide anion (O) inducing chemotherapeutic agent was reported for RNS-potentiated chemotherapy. The mole ratio of platinum(IV) prodrug and NO donor could be precisely tailored in SPNA. Read More

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Ocular Surface Squamous Neoplasia Following Keratoplasty in Xeroderma Pigmentosa: A Series of Seven Cases.

Curr Eye Res 2021 May 14:1-6. Epub 2021 May 14.

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

: To describe the clinical features and management of post-keratoplasty ocular surface squamous neoplasia (pk-OSSN) in patients with xeroderma pigmentosum (XP).: Retrospective case series of seven patients with XP.: The mean age at diagnosis of pk-OSSN was 22 years (median, 21 years; range, 12 to 37 years). Read More

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XPG is Modulated by miR-4715-3p and rs873601 Genotypes in Lung Cancer.

Cancer Manag Res 2021 19;13:3417-3427. Epub 2021 Apr 19.

Department of Environmental and Occupational Health, School of Public Health, Hainan Medical University, Haikou, 571199, Hainan, People's Republic of China.

Objective: (Xeroderma pigmentosum group G, ), a single strand-specific DNA endonuclease in the nucleotide excision repair pathway, has been implicated in lung cancer. Potentially functional rs873601 in is consistently associated with gastrointestinal cancer, and miR-4715-3p, targeting 3UTR of , also influences the process of gastrointestinal carcinogenesis, however, the relationships between and miR-4715-3p and rs873601 in lung cancer have not been elucidated.

Methods: A case-control study included 264 lung cancer patients and 264 cancer-free healthy controls and was designed to determine the relationships between rs873601 and lung cancer and the effect of miR-4715-3p on expression in lung cancer. Read More

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Combination of targeted therapy and immune checkpoint blocker in a patient with xeroderma pigmentosum presenting an aggressive angiosarcoma and a recurrent non-resectable basal cell carcinoma.

Eur J Cancer 2021 Apr 23;150:130-132. Epub 2021 Apr 23.

Dermatology Unit, Gustave Roussy Cancer Campus, Villejuif, France; Inserm U981, Gustave Roussy Cancer Campus, Villejuif, France; University Paris-Saclay, Faculty of Medicine, Kremlin-Bicêtre, France. Electronic address:

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COL4A1, negatively regulated by XPD and miR-29a-3p, promotes cell proliferation, migration, invasion and epithelial-mesenchymal transition in liver cancer cells.

H Zhang Y Wang H Ding

Clin Transl Oncol 2021 Apr 23. Epub 2021 Apr 23.

Department of Gastroenterology, The Second Affiliated Hospital of Nanchang University, Nanchang, 330006, Jiangxi, China.

Objective: Collagen type IV alpha 1 (COL4A1) exerts tumor-promoting functions in several tumors. However, its role in liver cancer remains not fully understood. Hence, this study aims to investigate the role of COL4A1 in regulating liver cancer cell behaviors and to validate its upstream regulatory mechanism. Read More

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Association of DNA repair gene XPC Ala499Val (rs2228000 C>T) and Lys939Gln (rs2228001 A>C) polymorphisms with the risk of chronic myeloid leukemia: A case-control study in a South Indian population.

J Gene Med 2021 Apr 8:e3339. Epub 2021 Apr 8.

Centre for Biotechnology and Bioinformatics, School of Life Sciences, Jawaharlal Nehru Institute of Advanced Studies (JNIAS), Hyderabad, Telangana, India.

Background: Xeroderma pigmentosum complementation group C (XPC), a DNA repair protein, plays an important role in the maintenance of genomic integrity and is essential for the nucleotide excision repair pathway. Polymorphisms in the XPC gene may alter DNA repair leading to genetic instability and oncogenesis. The present study aimed to assess the relationship between the XPC Ala499Val (rs2228000 C>T) and Lys939Gln (rs2228001 A>C) non-synonymous polymorphisms and susceptibility to chronic myeloid leukemia (CML) pathogenesis, disease progression and the response to targeted therapeutic regimen, imatinib mesylate. Read More

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Bilateral ocular surface squamous neoplasia: A study of 25 patients and review of literature.

Eur J Ophthalmol 2021 Apr 5:11206721211007109. Epub 2021 Apr 5.

Operation Eyesight Universal Institute for Eye Cancer, LV Prasad Eye Institute, Hyderabad, India.

Purpose: To describe the risk factors, clinical presentation, management, and outcomes of patients with bilateral ocular surface squamous neoplasia (OSSN).

Methods: Retrospective case series.

Results: Of the 25 patients with bilateral OSSN, the mean age at diagnosis of OSSN was 31 years (median, 24 years; range, 2-60 years). Read More

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In Silico Drug Repurposing by Structural Alteration after Induced Fit: Discovery of a Candidate Agent for Recovery of Nucleotide Excision Repair in Xeroderma Pigmentosum Group D Mutant (R683W).

Biomedicines 2021 Mar 3;9(3). Epub 2021 Mar 3.

Division of Dermatology, Kobe University Graduate School of Medicine, Kobe 650-0017, Japan.

Xeroderma pigmentosum complementation group D (XPD) is a UV-sensitive syndrome and a rare incurable genetic disease which is caused by the genetic mutation of the excision repair cross-complementation group 2 gene (). Patients who harbor only XPD R683W mutant protein develop severe photosensitivity and progressive neurological symptoms. Cultured cells derived from patients with XPD (XPD R683W cells) demonstrate a reduced nucleotide excision repair (NER) ability. Read More

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Lung adenocarcinoma concomitant with xeroderma pigmentosum: a case report.

J Med Case Rep 2021 Mar 30;15(1):160. Epub 2021 Mar 30.

Department of Respiratory Medicine, Kitaharima Medical Center, Ichiba-cho, Ono, Hyogo, 675-1392, Japan.

Background: Xeroderma pigmentosum is a rare, autosomal-recessive photosensitive dermatosis. Patients with xeroderma pigmentosum have an impaired ability to repair deoxyribonucleic acid damage caused by ultraviolet rays, resulting in skin cancer. Patients with xeroderma pigmentosum are more susceptible to some cancers. Read More

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Therapeutics of xeroderma pigmentosum: A PRISMA-compliant systematic review.

Indian J Dermatol Venereol Leprol 2021 Mar-Apr;87(2):176-189

Division of Plastic Surgery, Federal University of São Paulo, São Paulo, SP, Brazil.

Xeroderma pigmentosum is a rare hereditary autosomal recessive genodermatosis. At present, there are many treatment options for xeroderma pigmentosum, covering medical/procedural, surgical and combined modalities. However, the quality of these interventions has not been assessed. Read More

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Nuclear receptor coactivator NCOA3 regulates ultraviolet radiation-induced DNA damage and melanoma susceptibility.

Cancer Res 2021 Mar 25. Epub 2021 Mar 25.

Cancer Center, CPMC Research Institute

Melanoma occurs as a consequence of inherited susceptibility to the disease and exposure to ultraviolet radiation (UVR) and is characterized by uncontrolled cellular proliferation and a high mutational load. The precise mechanisms by which UVR contributes to the development of melanoma remain poorly understood. Here we show that activation of nuclear receptor coactivator 3 (NCOA3) promotes melanomagenesis through regulation of UVR sensitivity, cell cycle progression, and circumvention of the DNA damage response (DDR). Read More

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Inherited skin disorders presenting with poikiloderma.

Int J Dermatol 2021 Mar 19. Epub 2021 Mar 19.

Department of Dermatology and Venereology, Faculty of Medicine, Public Health, and Nursing, Universitas Gadjah Mada, Yogyakarta, Indonesia.

Poikiloderma is a skin condition that combines atrophy, telangiectasia, and macular pigment changes (hypo- as well as hyperpigmentation). It is often mistaken for mottled pigmentation by general practitioners or nondermatology specialists. Poikiloderma can be a key presenting symptom of Rothmund-Thomson syndrome (RTS), dyskeratosis congenita (DC), hereditary sclerosing poikiloderma (HSP), hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP), xeroderma pigmentosum (XP), Bloom syndrome (BS), Kindler syndrome (KS), and Clericuzio-type poikiloderma with neutropenia (PN). Read More

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Switch-like control of helicase processivity by single-stranded DNA binding protein.

Elife 2021 03 19;10. Epub 2021 Mar 19.

Department of Physics, University of Illinois, Urbana-Champaign, Urbana, United States.

Helicases utilize nucleotide triphosphate (NTP) hydrolysis to translocate along single-stranded nucleic acids (NA) and unwind the duplex. In the cell, helicases function in the context of other NA-associated proteins such as single-stranded DNA binding proteins. Such encounters regulate helicase function, although the underlying mechanisms remain largely unknown. Read More

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Expansion of the clinical and molecular spectrum of an XPD-related disorder linked to biallelic mutations in ERCC2 gene.

Clin Genet 2021 Jun 5;99(6):842-848. Epub 2021 Apr 5.

Department of Hematology/Oncology, Gene and Cell Therapy, Bambino Gesù Children's Hospital, IRCSS, Rome, Italy.

Bi-allelic inactivation of XPD protein, a nucleotide excision repair (NER) signaling pathway component encoded by ERCC2 gene, has been associated with several defective DNA repair phenotypes, including xeroderma pigmentosum, photosensitive trichothiodystrophy, and cerebro-oculo-facio-skeletal syndrome. We report a pediatric patient harboring two compound heterozygous variants in ERCC2 gene, c.361-1G>A and c. Read More

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Outcomes of keratoplasty in a cohort of Indian patients with xeroderma pigmentosum.

Indian J Ophthalmol 2021 Apr;69(4):860-864

The Cornea Institute, L V Prasad Eye Institute, Hyderabad, Telangana, India.

Purpose: To evaluate the outcomes of keratoplasty for xeroderma pigmentosum (XP) performed at a tertiary eye care center.

Methods: A retrospective review of medical records of those patients who were clinically diagnosed to have XP (54 eyes of 36 patients) and underwent keratoplasty; either deep anterior lamellar keratoplasty (DALK, four eyes), endothelial keratoplasty (EK, eight eyes), or penetrating keratoplasty (PK, 42 eyes) from 1994 to 2018.

Results: The median age at surgery was 20. Read More

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Mutation in the ERCC2 gene identified in a Chinese trichothiodystrophy patient.

J Dermatol 2021 May 9;48(5):e203-e204. Epub 2021 Mar 9.

Guangdong College of Clinical Dermatology, Anhui Medical University, Guangzhou, China.

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Clinical and Mutational Spectrum of Xeroderma Pigmentosum in Egypt: Identification of Six Novel Mutations and Implications for Ancestral Origins.

Genes (Basel) 2021 Feb 20;12(2). Epub 2021 Feb 20.

Clinical Genetics Department, HGGR, NRC, Cairo 12622, Egypt.

Xeroderma pigmentosum is a rare autosomal recessive skin disorder characterized by freckle-like dry pigmented skin, photosensitivity, and photophobia. Skin and ocular symptoms are confined to sun exposed areas of the body. Patients have markedly increased risk for UV-induced skin, ocular, and oral cancers. Read More

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February 2021

Chemical-Genetic Interactions of Constituents in Cells Deficient for the DNA Repair Endonuclease Appear Linked to Vacuolar Disruption.

Molecules 2021 Feb 24;26(5). Epub 2021 Feb 24.

Department of Biochemistry, Faculty of Science, Mahidol University, Bangkok 10400, Thailand.

Colorectal cancer is a common cancer worldwide and reduced expression of the DNA repair endonuclease XPF (xeroderma pigmentosum complementation group F) is associated with colorectal cancer. extracts were previously found to exhibit chemical-genetic synthetic lethal effects in a model of colorectal cancer lacking Rad1p, a structural and functional homologue of human XPF. However, the mechanisms for extracts to limit proliferation and promote an apoptosis-like event in deleted yeast was not elucidated. Read More

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February 2021

KERA: analysis tool for multi-process, multi-state single-molecule data.

Nucleic Acids Res 2021 Feb 28. Epub 2021 Feb 28.

Department of Biochemistry, University of Iowa, Iowa City, IA 52242, USA.

Molecular machines within cells dynamically assemble, disassemble and reorganize. Molecular interactions between their components can be observed at the single-molecule level and quantified using colocalization single-molecule spectroscopy, in which individual labeled molecules are seen transiently associating with a surface-tethered partner, or other total internal reflection fluorescence microscopy approaches in which the interactions elicit changes in fluorescence in the labeled surface-tethered partner. When multiple interacting partners can form ternary, quaternary and higher order complexes, the types of spatial and temporal organization of these complexes can be deduced from the order of appearance and reorganization of the components. Read More

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February 2021

NF-κB-induced R-loop accumulation and DNA damage select for nucleotide excision repair deficiencies in adult T cell leukemia.

Proc Natl Acad Sci U S A 2021 Mar;118(10)

Department of Microbiology and Immunology, Uniformed Services University of the Health Sciences, Bethesda, MD 20814;

Constitutive NF-κB activation (NF-κB) confers survival and proliferation advantages to cancer cells and frequently occurs in T/B cell malignancies including adult T cell leukemia (ATL) caused by human T-cell leukemia virus type 1 (HTLV-1). Counterintuitively, NF-κB by the HTLV-1 transactivator/oncoprotein Tax induces a senescence response, and HTLV-1 infections in culture mostly result in senescence or cell-cycle arrest due to NF-κB How NF-κB induces senescence, and how ATL cells maintain NF-κB and avert senescence, remain unclear. Here we report that NF-κB by Tax increases R-loop accumulation and DNA double-strand breaks, leading to senescence. Read More

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Role of Microneedling in Atrophic Post-Acne Scars: An Experience from a Tertiary Care Hospital.

Cureus 2021 Jan 8;13(1):e12578. Epub 2021 Jan 8.

Pathology, Liaquat National Hospital and Medical College, Karachi, PAK.

Objective To evaluate the outcomes of microneedling in patients with atrophic post-acne scars. Methodology A retrospective cross-sectional study was conducted at the Department of Dermatology, Patel Hospital for a duration of six months. Patients who were diagnosed with moderate to severe-grade atrophic acne scars were enrolled in the study. Read More

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January 2021

Skin tumors in xeroderma pigmentosum: Evaluation of a large series and a literature review.

J Cutan Pathol 2021 Feb 11. Epub 2021 Feb 11.

Department of Pathology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.

Background: Xeroderma pigmentosum (XP) is a rare genodermatosis with a lifelong propensity to develop malignant skin tumors.

Methods: In this retrospective study, 24 XP patients were evaluated with regard to frequency and clinicopathological features of benign and malignant skin tumors.

Results: Seventeen patients had at least one malignant skin tumor diagnosed: basal cell carcinoma (BCC) in 13 patients (n = 72), basosquamous carcinoma in three patients (n = 4), squamous cell carcinoma in six patients (n = 13), keratoacanthoma in three patients (n = 15), and melanoma in six patients (n = 18). Read More

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February 2021

XAB2 TagSNP Is Associated with the Risk of Gastric Cancer in Chinese Population: A Case-Control Study.

Int J Environ Res Public Health 2021 02 4;18(4). Epub 2021 Feb 4.

School of Public Health, North China University of Science and Technology, Tangshan 063210, China.

XAB2 protein (xeroderma pigmentosum group A-binding protein 2) plays a significant role in the nucleotide excision repair pathway. Polymorphisms in the XAB2 gene may have an effect on the capability of DNA repair and further contribute to the risk of developing various cancers. In order to investigate the relationship between XAB2 genetic variants and the risk of gastric cancer, we performed a hospital-based case-control study. Read More

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February 2021

Modulation of DNA damage by XPF, XPG and ERCC1 gene polymorphisms in pesticide-exposed agricultural workers of Punjab, North-West India.

Mutat Res 2021 Jan-Feb;861-862:503302. Epub 2020 Dec 19.

Department of Biotechnology, Sri Guru Granth Sahib World University, Fatehgarh Sahib, 140406 Punjab, India. Electronic address:

Inter-individual variations in DNA repair capacity (DRC) for repairing pesticide-induced DNA oxidation damage may influence adverse health outcomes. We aimed to evaluate whether polymorphisms in genes involved in nucleotide excision repair (NER) pathway could modulate DNA damage in pesticide-exposed agricultural workers. Xeroderma pigmentosum group F (XPF) (Arg415Gln, G1244A, rs1800067), xeroderma pigmentosum group G (XPG) (Asp1104His, G3507C, rs17655), excision repair cross complementation group 1 (ERCC1) (3'UTR, C8092A, rs3212986) and ERCC1 (Asn118Asn, C19007T, rs11615) polymorphisms were analyzed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique in 225 pesticide-exposed agricultural workers and 225 controls from Punjab, North-West India. Read More

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Xeroderma pigmentosum in Yemen.

Int J Dermatol 2021 Mar 4;60(3):314-320. Epub 2021 Feb 4.

Department of Dermatology, Saudi Hospital at Hajjah, Sana'a, Republic of Yemen.

Background: The incidence of xeroderma pigmentosum (XP) in Yemen seems to be quite high but there are no previous reports.

Objective: To study the clinicoepidemiologic aspect of XP in Yemen.

Methods: All 40 patients (24 male and 16 female patients from 32 families) treated and followed between 1997 and 2014 were subjected to detailed analysis with the help of a standardized protocol. Read More

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The roles of PARP-1 and XPD and their potential interplay in repairing bupivacaine-induced neuron oxidative DNA damage.

Aging (Albany NY) 2021 01 20;13(3):4274-4290. Epub 2021 Jan 20.

Department of Anesthesiology, ZhuJiang Hospital, Southern Medical University, Guangdong Province, China.

Bupivacaine has been widely used in clinical Anesthesia, but its neurotoxicity has been frequently reported, implicating cellular oxidative DNA damage as the major underlying mechanism. However, the mechanism underlying bupivacaine-induced oxidative DNA damage is unknown. We, thus, exposed SH-SY5Y cells to 1. Read More

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January 2021

Ribosomal protein S3 associates with the TFIIH complex and positively regulates nucleotide excision repair.

Cell Mol Life Sci 2021 Apr 19;78(7):3591-3606. Epub 2021 Jan 19.

Lab of Biochemistry, Division of Life Sciences, Korea University, Seoul, 02841, Korea.

In mammalian cells, the bulky DNA adducts caused by ultraviolet radiation are mainly repaired via the nucleotide excision repair (NER) pathway; some defects in this pathway lead to a genetic disorder known as xeroderma pigmentosum (XP). Ribosomal protein S3 (rpS3), a constituent of the 40S ribosomal subunit, is a multi-functional protein with various extra-ribosomal functions, including a role in the cellular stress response and DNA repair-related activities. We report that rpS3 associates with transcription factor IIH (TFIIH) via an interaction with the xeroderma pigmentosum complementation group D (XPD) protein and complements its function in the NER pathway. Read More

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Squamous Cell Carcinoma of the Tongue in Young Patients: A Case Series and Literature Review.

J Oral Maxillofac Surg 2020 Dec 24. Epub 2020 Dec 24.

Section Head, Chair, and Associate Professor, Department of Oral and Maxillofacial Surgery Director, Microvascular Surgery/Oncology Fellowship, University of Michigan, Ann Arbor, MI.

Purpose: The purpose of this study was to describe 3 cases of tongue cancer in patients less than 21 years of age. Secondarily, a literature review was performed to examine disease presentation, risk factors, prognosis, and treatment strategies for young persons with tongue cancer.

Methods: The authors presented 3 cases of childhood tongue cancer between 2009 and 2020 at the University of Michigan Department of Oral and Maxillofacial Surgery (Ann Arbor, MI). Read More

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December 2020