6,438 results match your criteria xeroderma pigmentosum

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 Mar 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 Mar 17. Epub 2021 Mar 17.

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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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 Feb 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

Xeroderma Pigmentosum: A Model for Human Premature Aging.

J Invest Dermatol 2021 Apr 9;141(4S):976-984. Epub 2021 Jan 9.

Laboratory of Cancer Biology and Genetics, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA. Electronic address:

Aging results from intrinsic changes (chronologic) and damage from external exposures (extrinsic) on the human body. The skin is ideal to visually differentiate their unique features. Inherited diseases of DNA repair, such as xeroderma pigmentosum (XP), provide an excellent model for human aging due to the accelerated accumulation of DNA damage. Read More

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Single-arm, open label prospective trial to assess prediction of the role of ERCC1/XPF complex in the response of advanced NSCLC patients to platinum-based chemotherapy.

ESMO Open 2021 Feb 7;6(1):100034. Epub 2021 Jan 7.

Unit of Thoracic Oncology, Medical Oncology Department 1, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy.

Background: Platinum-based therapy, combined or not with immune checkpoint inhibitors, represents a front-line choice for patients with non-small-cell lung cancer (NSCLC). Despite the improved outcomes in the last years for this malignancy, only a sub-group of patients have long-term benefit. Excision repair cross-complementation group 1 (ERCC1) has been considered a potential biomarker to predict the outcome of platinum-based chemotherapy in NSCLC. Read More

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February 2021

Plasma ctDNA is a tumor tissue surrogate and enables clinical-genomic stratification of metastatic bladder cancer.

Nat Commun 2021 01 8;12(1):184. Epub 2021 Jan 8.

Department of Urologic Sciences, Vancouver Prostate Centre, University of British Columbia, Vancouver, BC, Canada.

Molecular stratification can improve the management of advanced cancers, but requires relevant tumor samples. Metastatic urothelial carcinoma (mUC) is poised to benefit given a recent expansion of treatment options and its high genomic heterogeneity. We profile minimally-invasive plasma circulating tumor DNA (ctDNA) samples from 104 mUC patients, and compare to same-patient tumor tissue obtained during invasive surgery. Read More

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January 2021

XPF expression and its relationship with the risk and prognosis of colorectal cancer.

Cancer Cell Int 2021 Jan 6;21(1):12. Epub 2021 Jan 6.

Tumor Etiology and Screening Department of Cancer Institute and General Surgery, the First Hospital of China Medical University, 155# North Nanjing Street, Heping District, Shenyang City, Liaoning Province, 110001, China.

Background: XPF (xeroderma pigmentosum complementation group F) is a key factor contributing to DNA damage excision of nucleotide excision repair pathway. The relationship between XPF expression and the risk and prognosis of colorectal cancer (CRC) is unclear.

Methods: In this experiment, a total of 824 cases of colorectal tissue were collected. Read More

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January 2021

gene polymorphisms and glioma susceptibility: a two-centre case-control study.

Br J Biomed Sci 2021 Feb 5:1-6. Epub 2021 Feb 5.

Department of Pathology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University , Guangzhou, Guangdong, China.

: Glioma, the most common tumour in children next to leukaemia, is difficult to treat, with a poor prognosis and high recurrence rate. Xeroderma pigmentosum group G (XPG) plays a key role in the nucleotide excision repair pathway, which may modulate individual susceptibility to developing cancer. We hypothesized links between variants and glioma in children. Read More

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February 2021

Xeroderma pigmentosum and renal leiomyosarcoma: A very rare case report association.

Int J Surg Case Rep 2021 Jan 20;78:310-313. Epub 2020 Dec 20.

Department of Surgery, FSI Hospital, La Marsa, Tunisia; University of Tunis El Manar, Tunis, Tunisia.

Introduction: Xeroderma pigmentosum (XP) is a rare genetic disorder causing extreme sensitivity to ultraviolet (UV) rays. It is transmitted by an autosomal recessive mode. This disease is classically characterized by a high risk of skin cancer. Read More

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January 2021

Inhabitual presentation of Sertoli-Leydig cell tumor of the ovary with xeroderma pigmentosum: Case report with review of literature.

Int J Surg Case Rep 2021 Jan 16;78:288-291. Epub 2020 Dec 16.

Department of Pathology, Farhat Hached University Hospital, Sousse, Tunisia.

Introduction: Sertoli-Leydig cell tumors (SLCTs) are rare sex-cord stromal tumors of the ovary. Heterologous components may be present, most commonly in the intermediate differentiated and poorly differentiated groups. Because of their scarcity, SLCTs with heterologous differentiation represent a challenge in both diagnosis and management, with limited available experience. Read More

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January 2021

Spironolactone-induced XPB degradation requires TFIIH integrity and ubiquitin-selective segregase VCP/p97.

Cell Cycle 2021 Jan 31;20(1):81-95. Epub 2020 Dec 31.

Department of Radiology, The Ohio State University , Columbus, OH, USA.

Mineralocorticoid and androgen receptor antagonist, spironolactone, was recently identified as an inhibitor of nucleotide excision repair (NER), acting via induction of proteolysis of TFIIH component Xeroderma Pigmentosum B protein (XPB). This activity provides a strong rationale for repurposing spironolactone for cancer therapy. Here, we report that the spironolactone-induced XPB proteolysis is mediated through ubiquitin-selective segregase, valosin-containing protein (VCP)/p97. Read More

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January 2021

Xeroderma Pigmentosum C (XPC) Mutations in Primary Fibroblasts Impair Base Excision Repair Pathway and Increase Oxidative DNA Damage.

Front Genet 2020 27;11:561687. Epub 2020 Nov 27.

University Grenoble Alpes, SyMMES/CIBEST UMR 5819 UGA-CNRS-CEA, Grenoble, France.

Xeroderma Pigmentosum C (XPC) is a multi-functional protein that is involved not only in the repair of bulky lesions, post-irradiation, via nucleotide excision repair (NER) but also in oxidative DNA damage mending. Since base excision repair (BER) is the primary regulator of oxidative DNA damage, we characterized, post-Ultraviolet B-rays (UVB)-irradiation, the detailed effect of three different XPC mutations in primary fibroblasts derived from XP-C patients on mRNA, protein expression and activity of different BER factors. We found that XP-C fibroblasts are characterized by downregulated expression of different BER factors including , , , , , and β. Read More

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November 2020