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193 Results Found

  • Article
  • Open Access
4 Citations
2,404 Views
11 Pages

Clock-like Mutation Signature May Be Prognostic for Worse Survival Than Signatures of UV Damage in Cutaneous Melanoma

  • Fabienne Fröhlich,
  • Egle Ramelyte,
  • Patrick Turko,
  • Andreas Dzung,
  • Sandra N. Freiberger,
  • Joanna Mangana,
  • Mitchell P. Levesque and
  • Reinhard Dummer

27 July 2023

Novel treatment modalities comprising immune checkpoint inhibitors and targeted therapies have revolutionized treatment of metastatic melanoma. Still, some patients suffer from rapid progression and decease within months after a diagnosis of stage IV...

  • Case Report
  • Open Access
191 Views
9 Pages

Undifferentiated melanoma (UM) is a rare and diagnostically challenging subtype of malignant melanoma that often lacks traditional histological features and immunophenotypic expression. We report the case of a 58-year-old man with a history of a prev...

  • Review
  • Open Access
15 Citations
6,554 Views
17 Pages

UV-Induced Somatic Mutations Driving Clonal Evolution in Healthy Skin, Nevus, and Cutaneous Melanoma

  • Alba Loras,
  • Marta Gil-Barrachina,
  • María Ángeles Marqués-Torrejón,
  • Gemma Perez-Pastor and
  • Conrado Martinez-Cadenas

29 August 2022

Introduction: Due to its aggressiveness, cutaneous melanoma (CM) is responsible for most skin cancer-related deaths worldwide. The origin of CM is closely linked to the appearance of UV-induced somatic mutations in melanocytes present in normal skin...

  • Article
  • Open Access
22 Citations
4,684 Views
15 Pages

Mutational Landscape of Virus- and UV-Associated Merkel Cell Carcinoma Cell Lines Is Comparable to Tumor Tissue

  • Kai Horny,
  • Patricia Gerhardt,
  • Angela Hebel-Cherouny,
  • Corinna Wülbeck,
  • Jochen Utikal and
  • Jürgen C. Becker

5 February 2021

Merkel cell carcinoma (MCC) is a rare, highly aggressive cutaneous malignancy that is either associated with the integration of the Merkel cell polyomavirus or chronic UV exposure. These two types of carcinogenesis are reflected in characteristic mut...

  • Article
  • Open Access
4 Citations
2,354 Views
15 Pages

25 July 2022

The future of petroleum-based fuel is biodiesel. Biodiesel is an eco-friendly fuel that can be used in any diesel engine without any alterations. Researchers have focused on biodiesel that can be produced from microbial lipids extracted from high lip...

  • Review
  • Open Access
21 Citations
8,003 Views
15 Pages

Genetic Aspects of Conjunctival Melanoma: A Review

  • Emily Chang,
  • Hakan Demirci and
  • F. Yesim Demirci

23 August 2023

Conjunctival melanoma (CM) is a rare but aggressive cancer. Over the past decade, molecular studies using rapidly advancing technologies have increasingly improved our understanding of CM genetics. CMs are mainly characterized by dysregulated MAPK an...

  • Article
  • Open Access
7 Citations
3,632 Views
16 Pages

A Comprehensive Assessment of Ultraviolet-Radiation-Induced Mutations in Flammulina filiformis Using Whole-Genome Resequencing

  • Qianhui Huang,
  • Xing Han,
  • Zongjun Tong,
  • Youjin Deng,
  • Luyu Xie,
  • Shengrong Liu,
  • Baogui Xie and
  • Weirui Zhang

20 March 2024

Nucleotide substitutions have played an important role in molecular evolution, and understanding their dynamics would contribute to genetic studies. Related research with defined DNA sequences lasted for decades until whole-genome sequencing arose. U...

  • Review
  • Open Access
63 Citations
9,098 Views
27 Pages

Current Molecular Markers of Melanoma and Treatment Targets

  • Kevin Yang,
  • Allen S.W. Oak,
  • Radomir M. Slominski,
  • Anna A. Brożyna and
  • Andrzej T. Slominski

Melanoma is a deadly skin cancer that becomes especially difficult to treat after it metastasizes. Timely identification of melanoma is critical for effective therapy, but histopathologic diagnosis can frequently pose a significant challenge to this...

  • Article
  • Open Access
1,353 Views
13 Pages

Ethnic-Specific and UV-Independent Mutational Signatures of Basal Cell Carcinoma in Koreans

  • Ye-Ah Kim,
  • Seokho Myung,
  • Yueun Choi,
  • Junghyun Kim,
  • Yoonsung Lee,
  • Kiwon Lee,
  • Bark-Lynn Lew,
  • Man S. Kim and
  • Soon-Hyo Kwon

Basal cell carcinoma (BCC), the most common skin cancer, is primarily driven by Hedgehog (Hh) and TP53 pathway alterations. Although additional pathways were implicated, the mutational landscape in Asian populations, particularly Koreans, remains und...

  • Communication
  • Open Access
9 Citations
2,871 Views
10 Pages

13 June 2023

Ultraviolet (UV) radiation is a strong environmental carcinogen responsible for the pathogenesis of most skin cancers, including malignant melanoma (MM) and non-melanoma (keratinocyte) skin cancers. The carcinogenic role of UV was firmly established...

  • Review
  • Open Access
50 Citations
10,721 Views
28 Pages

The Solo Play of TERT Promoter Mutations

  • François Hafezi and
  • Danielle Perez Bercoff

19 March 2020

The reactivation of telomerase reverse transcriptase (TERT) protein is the principal mechanism of telomere maintenance in cancer cells. Mutations in the TERT promoter (TERTp) are a common mechanism of TERT reactivation in many solid cancers, particul...

  • Article
  • Open Access
2 Citations
3,216 Views
13 Pages

29 March 2024

Gold nanoparticles (AuNPs) exhibit improved optical and spectral properties compared to bulk materials, making them suitable for the detection of DNA, RNA, antigens, and antibodies. Here, we describe a simple, selective, and rapid non-cross linking d...

  • Article
  • Open Access
8 Citations
2,917 Views
13 Pages

Multiple Basal Cell Carcinomas in Immunocompetent Patients

  • Paola Savoia,
  • Federica Veronese,
  • Lara Camillo,
  • Vanessa Tarantino,
  • Ottavio Cremona and
  • Elisa Zavattaro

30 June 2022

Background: The onset of multiple BCCs is a relatively common condition, not only among patients undergoing chronic treatment with immunosuppressant drugs, but also in the general population, although specific risk factors for immunocompetent patient...

  • Article
  • Open Access
3 Citations
2,797 Views
16 Pages

2 September 2022

DNA polymerase ζ (pol ζ) plays a central role in replicating damaged genomic DNA. When DNA synthesis stalls at a lesion, it participates in translesion DNA synthesis (TLS), which helps replication proceed. TLS prevents cell death at the exp...

  • Review
  • Open Access
60 Citations
11,383 Views
19 Pages

29 February 2024

Ultraviolet (UV) radiation plays a crucial role in the development of melanoma and non-melanoma skin cancers. The types of UV radiation are differentiated by wavelength: UVA (315 to 400 nm), UVB (280 to 320 nm), and UVC (100 to 280 nm). UV radiation...

  • Article
  • Open Access
11 Citations
1 Views
6 Pages

Combined Use of In Silico and In Vitro Splicing Assays for Interpretation of Genomic Variants of Unknown Significance in Cardiomyopathies and Channelopathies

  • Hervé Crehalet,
  • Gilles Millat,
  • Juliette Albuisson,
  • Véronique Bonnet,
  • Isabelle Rouvet,
  • Robert Rousson and
  • Dominique Bozon

The identification of molecular anomalies in patients with inherited arrhythmias or cardiomyopathies is a multi challenge due to: i) the number of genes involved; ii) the number of polymorphisms and the fact that most mutations are private; and iii)...

  • Article
  • Open Access
20 Citations
5,707 Views
15 Pages

Degradation of Ochratoxin A by a UV-Mutated Aspergillus niger Strain

  • Dong Zou,
  • Jian Ji,
  • Yongli Ye,
  • Yang Yang,
  • Jian Yu,
  • Meng Wang,
  • Yi Zheng and
  • Xiulan Sun

16 May 2022

Ochratoxin A (OTA) is a mycotoxin that can contaminate a wide range of crops such as grains and grapes. In this study, a novel fungal mutant strain (FS-UV-21) with a high OTA degradation rate (74.5%) was obtained from Aspergillus niger irradiated wit...

  • Article
  • Open Access
3 Citations
3,405 Views
11 Pages

Differing In Vitro Rooting and Flowering Responses of the Persian Violet to Low and High UV-C Irradiation

  • Saowaros Phanomchai,
  • Sompoch Noichinda,
  • Yongsak Kachonpadungkitti and
  • Kitti Bodhipadma

4 December 2021

Persian violet flowers are considered esthetically attractive, leading to the high economic value of this plant. Plant breeding is fundamental to crop improvement, and the induction of mutation by tissue culture technology in combination with irradia...

  • Review
  • Open Access
93 Citations
17,367 Views
20 Pages

9 January 2013

UVB radiation is the most mutagenic component of the UV spectrum that reaches the earth’s surface and causes the development of DNA damage in the form of cyclobutane pyrimidine dimers and 6-4 photoproducts. UV radiation usually results in cellular de...

  • Article
  • Open Access
4 Citations
7,058 Views
17 Pages

Adenovirus with DNA Packaging Gene Mutations Increased Virus Release

  • Stephen L. Wechman,
  • Xiao-Mei Rao,
  • Kelly M. McMasters and
  • Heshan Sam Zhou

20 December 2016

Adenoviruses (Ads) have been extensively manipulated for the development of cancer selective replication, leading to cancer cell death or oncolysis. Clinical studies using E1-modified oncolytic Ads have shown that this therapeutic platform was safe,...

  • Article
  • Open Access
28 Citations
5,863 Views
12 Pages

Evaluation by the Ames Assay of the Mutagenicity of UV Filters Using Benzophenone and Benzophenone-1

  • Wen-Qian Wang,
  • Hai-Xin Duan,
  • Zhou-Tao Pei,
  • Rou-Rou Xu,
  • Ze-Tian Qin,
  • Guang-Can Zhu and
  • Li-Wei Sun

Ultraviolet absorbing chemicals (UV filters) are widely used in personal care products for protecting human skin and hair from damage by UV radiation. Although these substances are released into the environment during production and consumption proce...

  • Article
  • Open Access
22 Citations
4,355 Views
10 Pages

24 March 2021

Microalgae are important green energy resources. With high efficiency in fixing carbon dioxide, microalgae are broadly applied for biofuel production. Integrating various cultivation parameters, we applied ultraviolet (UV) mutagenesis, one of the mos...

  • Article
  • Open Access
4 Citations
2,695 Views
19 Pages

Improving Beneficial Traits in Bacillus cabrialesii subsp. cabrialesii TE3T through UV-Induced Genomic Changes

  • Pamela Helué Morales Sandoval,
  • María Edith Ortega Urquieta,
  • Valeria Valenzuela Ruíz,
  • Kevin Montañez Acosta,
  • Kevin Alejandro Campos Castro,
  • Fannie I. Parra Cota,
  • Gustavo Santoyo and
  • Sergio de los Santos Villalobos

14 September 2024

It is essential to hunt for new technologies that promote sustainable practices for agroecosystems; thus, the bioprospecting of beneficial microorganisms complementing with mutation induction techniques to improve their genomic, metabolic, and functi...

  • Article
  • Open Access
9 Citations
5,406 Views
13 Pages

28 December 2016

Conventional photocatalysts are primarily stimulated using ultraviolet (UV) light to elicit reactive oxygen species and have wide applications in environmental and energy fields, including self-cleaning surfaces and sterilization. Because UV illumina...

  • Article
  • Open Access
23 Citations
3,759 Views
21 Pages

8 April 2021

Inducing apoptosis is an effective treatment for cancer. Conventional cytotoxic anticancer agents induce apoptosis primarily through activation of tumor suppressor p53 by causing DNA damage and the resulting regulation of B-cell leukemia/lymphoma-2 (...

  • Article
  • Open Access
11 Citations
3,312 Views
18 Pages

Genome of Laudakia sacra Provides New Insights into High-Altitude Adaptation of Ectotherms

  • Chaochao Yan,
  • Zhi-Yi Zhang,
  • Yunyun Lv,
  • Zeng Wang,
  • Ke Jiang and
  • Jia-Tang Li

3 September 2022

Anan’s rock agama (Laudakia sacra) is a lizard species endemic to the harsh high-altitude environment of the Qinghai–Tibet Plateau, a region characterized by low oxygen tension and high ultraviolet (UV) radiation. To better understand the...

  • Communication
  • Open Access
19 Citations
7,102 Views
12 Pages

Understanding Xeroderma Pigmentosum Complementation Groups Using Gene Expression Profiling after UV-Light Exposure

  • Nikola A. Bowden,
  • Natalie J. Beveridge,
  • Katie A. Ashton,
  • Katherine J. Baines and
  • Rodney J. Scott

14 July 2015

Children with the recessive genetic disorder Xeroderma Pigmentosum (XP) have extreme sensitivity to UV-light, a 10,000-fold increase in skin cancers from age 2 and rarely live beyond 30 years. There are seven genetic subgroups of XP, which are all re...

  • Article
  • Open Access
3 Citations
3,003 Views
22 Pages

Detection of Primary DNA Lesions by Transient Changes in Mating Behavior in Yeast Saccharomyces cerevisiae Using the Alpha-Test

  • Anna S. Zhuk,
  • Anna A. Shiriaeva,
  • Yulia V. Andreychuk,
  • Olga V. Kochenova,
  • Elena R. Tarakhovskaya,
  • Vladimir M. Bure,
  • Youri I. Pavlov,
  • Sergey G. Inge-Vechtomov and
  • Elena I. Stepchenkova

Spontaneous or induced DNA lesions can result in stable gene mutations and chromosomal aberrations due to their inaccurate repair, ultimately resulting in phenotype changes. Some DNA lesions per se may interfere with transcription, leading to tempora...

  • Article
  • Open Access
2 Citations
2,694 Views
8 Pages

4 February 2024

Glaucoma is a chronic optic neuropathy that leads to irreversible vision loss. Aging and family history are the two most important risk factors of glaucoma. One of the most studied genes involved in the onset of open-angle glaucoma is myocilin (MYOC)...

  • Article
  • Open Access
12 Citations
4,436 Views
15 Pages

17 March 2020

Helicase-like transcription factor (HLTF) and SNF2, histone-linker, PHD and RING finger domain-containing helicase (SHPRH), the two human homologs of yeast Rad5, are believed to have a vital role in DNA damage tolerance (DDT). Here we show that HLTF,...

  • Review
  • Open Access
29 Citations
8,223 Views
33 Pages

The Dark Side of UV-Induced DNA Lesion Repair

  • Wojciech Strzałka,
  • Piotr Zgłobicki,
  • Ewa Kowalska,
  • Aneta Bażant,
  • Dariusz Dziga and
  • Agnieszka Katarzyna Banaś

2 December 2020

In their life cycle, plants are exposed to various unfavorable environmental factors including ultraviolet (UV) radiation emitted by the Sun. UV-A and UV-B, which are partially absorbed by the ozone layer, reach the surface of the Earth causing harmf...

  • Article
  • Open Access
24 Citations
6,241 Views
14 Pages

1 April 2015

The phenol-degrading efficiency of Pseudochrobactrum sp. was enhanced by ultraviolet (UV) irradiation. First, a bacterial strain, Pseudochrobactrum sp. XF1, was isolated from the activated sludge in a coking plant. It was subjected to mutation by UV...

  • Article
  • Open Access
9 Citations
2,882 Views
13 Pages

Genetic and Clinical Characteristics of ARID1A Mutated Melanoma Reveal High Tumor Mutational Load without Implications on Patient Survival

  • Carl Maximilian Thielmann,
  • Johanna Matull,
  • Sebastian Roth,
  • Jan-Malte Placke,
  • Eleftheria Chorti,
  • Anne Zaremba,
  • Georg Lodde,
  • Philipp Jansen,
  • Frederik Krefting and
  • Klaus G. Griewank
  • + 9 authors

22 April 2022

(1) Background: Melanoma has the highest mortality of all cutaneous tumors, despite recent treatment advances. Many relevant genetic events have been identified in the last decade, including recurrent ARID1A mutations, which in various tumors have be...

  • Article
  • Open Access
3 Citations
3,251 Views
30 Pages

Homologous recombination repairs potentially lethal DNA lesions such as double-strand DNA breaks (DSBs) and single-strand DNA gaps (SSGs). In Escherichia coli, DSB repair is initiated by the RecBCD enzyme that resects double-strand DNA ends and loads...

  • Review
  • Open Access
37 Citations
6,883 Views
15 Pages

UV Radiation and Its Relation to DNA Methylation in Epidermal Cells: A Review

  • Naila Francis Paulo de Oliveira,
  • Beatriz Fernandes de Souza and
  • Marina de Castro Coêlho

30 September 2020

DNA methylation is the most studied epigenetic mark, and it can be altered by environmental factors. Among these factors, ultraviolet radiation (UV) is little explored within this context. While the relationship between UV radiation and DNA mutations...

  • Article
  • Open Access
3 Citations
3,481 Views
14 Pages

Primary Founder Mutations in the PRKDC Gene Increase Tumor Mutation Load in Colorectal Cancer

  • Hajnalka Laura Pálinkás,
  • Lőrinc Pongor,
  • Máté Balajti,
  • Ádám Nagy,
  • Kinga Nagy,
  • Angéla Békési,
  • Giampaolo Bianchini,
  • Beáta G. Vértessy and
  • Balázs Győrffy

The clonal composition of a malignant tumor strongly depends on cellular dynamics influenced by the asynchronized loss of DNA repair mechanisms. Here, our aim was to identify founder mutations leading to subsequent boosts in mutation load. The overal...

  • Article
  • Open Access
19 Citations
4,618 Views
22 Pages

Characterization of Permeability Barrier Dysfunction in a Murine Model of Cutaneous Field Cancerization Following Chronic UV-B Irradiation: Implications for the Pathogenesis of Skin Cancer

  • Juan Luis Santiago,
  • Jose Ramon Muñoz-Rodriguez,
  • Miguel Angel de la Cruz-Morcillo,
  • Clara Villar-Rodriguez,
  • Lucia Gonzalez-Lopez,
  • Carolina Aguado,
  • Miriam Nuncia-Cantarero,
  • Francisco Javier Redondo-Calvo,
  • Jose Manuel Perez-Ortiz and
  • Eva Maria Galan-Moya

4 August 2021

Chronic ultraviolet B (UV-B) irradiation is known to be one of the most important hazards acting on the skin and poses a risk of developing photoaging, skin with cutaneous field cancerization (CFC), actinic keratosis (AKs), and squamous cell carcinom...

  • Article
  • Open Access
4 Citations
2,318 Views
15 Pages

In an earlier investigation, novel Clostridial fusants were introduced and demonstrated an ability to produce biobutanol at the relatively high temperature of 45 °C. The objective of the present study is to further improve the fused strains throu...

  • Article
  • Open Access
16 Citations
3,355 Views
13 Pages

BRAF Mutations and Dysregulation of the MAP Kinase Pathway Associated to Sinonasal Mucosal Melanomas

  • Maria Colombino,
  • Panagiotis Paliogiannis,
  • Antonio Cossu,
  • Valli De Re,
  • Gianmaria Miolo,
  • Gerardo Botti,
  • Giosuè Scognamiglio,
  • Paolo Antonio Ascierto,
  • Davide Adriano Santeufemia and
  • Giuseppe Palmieri
  • + 9 authors

1 October 2019

Sinonasal mucosal melanoma (SNM) is a rare and aggressive type of melanoma, and because of this, we currently have a limited understanding of its genetic and molecular constitution. The incidence among SNMs of somatic mutations in the genes involved...

  • Review
  • Open Access
18 Citations
4,502 Views
15 Pages

30 June 2022

Melanoma is the most aggressive and life-threatening form of skin cancer. Key molecular events underlying the melanocytic transformation into malignant melanoma mainly involve gene mutations in which exposure to ultraviolet (UV) radiation plays a pro...

  • Article
  • Open Access
20 Citations
5,919 Views
12 Pages

RAD4 and RAD23/HMR Contribute to Arabidopsis UV Tolerance

  • Triparna Lahari,
  • Janelle Lazaro and
  • Dana F. Schroeder

28 December 2017

In plants, exposure to solar ultraviolet (UV) light is unavoidable, resulting in DNA damage. Damaged DNA causes mutations, replication arrest, and cell death, thus efficient repair of the damaged DNA is essential. A light-independent DNA repair pathw...

  • Article
  • Open Access
2 Citations
2,647 Views
26 Pages

Genetic and Epigenetic Changes in Arabidopsis thaliana Exposed to Ultraviolet-C Radiation Stress for 25 Generations

  • Andres Lopez Virgen,
  • Narendra Singh Yadav,
  • Boseon Byeon,
  • Yaroslav Ilnytskyy and
  • Igor Kovalchuk

20 March 2025

Continuous exposure to stress contributes to species diversity and drives microevolutionary processes. It is still unclear, however, whether epigenetic changes, in the form of epimutations such as, for example, differential DNA methylation, are the p...

  • Review
  • Open Access
13 Citations
4,363 Views
22 Pages

21 August 2024

Cutaneous squamous cell carcinoma (cSCC) manifests through the complex interactions of UV-induced DNA damage, genetic mutations, and alterations in the tumor microenvironment. A high mutational burden is present in cSCC, as well as both cSCC precurso...

  • Review
  • Open Access
26 Citations
5,803 Views
16 Pages

31 July 2021

Basal cell carcinoma (BCC) is a significant public health concern, with more than 3 million cases occurring each year in the United States, and with an increasing incidence. The molecular basis of BCC is complex, involving an interplay of inherited g...

  • Article
  • Open Access
14 Citations
3,903 Views
9 Pages

Kirsten rat sarcoma viral oncogene (KRAS) is the isoform most frequently mutated in human tumors. Testing for activating KRAS mutations has important implications for diagnosis and the personalized medicine of cancers. The current techniques for dete...

  • Article
  • Open Access
3 Citations
2,808 Views
12 Pages

A Novel Missense Mutation in ERCC8 Co-Segregates with Cerebellar Ataxia in a Consanguineous Pakistani Family

  • Zeeshan Gauhar,
  • Leon Tejwani,
  • Uzma Abdullah,
  • Sadia Saeed,
  • Shagufta Shafique,
  • Mazhar Badshah,
  • Jungmin Choi,
  • Weilai Dong,
  • Carol Nelson-Williams and
  • Ghazala K. Raja
  • + 2 authors

30 September 2022

Autosomal-recessive cerebellar ataxias (ARCAs) are heterogeneous rare disorders mainly affecting the cerebellum and manifest as movement disorders in children and young adults. To date, ARCA causing mutations have been identified in nearly 100 genes;...

  • Article
  • Open Access
502 Views
11 Pages

Genetic Evolution of Melanoma: Comparative Analysis of Candidate Gene Mutations in Healthy Skin, Nevi, and Tumors from the Same Patients

  • Marta Gil-Barrachina,
  • Barbara Hernando,
  • Gemma Perez-Pastor,
  • Victor Alegre-de-Miquel,
  • Cristian Valenzuela-Oñate,
  • Sandra Minguez-Lujan,
  • Pablo Monfort-Lanzas,
  • Elena Tomas-Bort,
  • Maria Angeles Marques-Torrejon and
  • Conrado Martinez-Cadenas

Melanocytic tumorigenesis is thought to occur through stepwise genomic evolution from normal skin to nevi and, ultimately, melanoma. To investigate this progression, we performed targeted deep sequencing of a 46-gene panel in matched healthy skin, ne...

  • Article
  • Open Access
18 Citations
6,987 Views
18 Pages

UV Differentially Induces Oxidative Stress, DNA Damage and Apoptosis in BCR-ABL1-Positive Cells Sensitive and Resistant to Imatinib

  • Ewelina Synowiec,
  • Grazyna Hoser,
  • Katarzyna Wojcik,
  • Elzbieta Pawlowska,
  • Tomasz Skorski and
  • Janusz Błasiak

5 August 2015

Chronic myeloid leukemia (CML) cells express the active BCR-ABL1 protein, which has been targeted by imatinib in CML therapy, but resistance to this drug is an emerging problem. BCR-ABL1 induces endogenous oxidative stress promoting genomic instabili...

  • Article
  • Open Access
4 Citations
3,823 Views
14 Pages

10 May 2023

Background: Xeroderma pigmentosum (XP) is a rare genetic disorder characterized by a high incidence of skin cancers. These patients are deficient in nucleotide excision repair caused by mutations in one of the 7 XP genes. Methods: We diagnosed 181 XP...

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