Article
Oncology
Alain Sarasin
Summary: Xeroderma pigmentosum (XP) is a rare genetic disorder that predisposes patients to skin cancers. The French XP patients, most of whom are of North African origin, have a high risk of developing lethal internal tumors, including hematological, brain, gynecological, and thyroid tumors. Immunotherapies may be effective in treating these DNA repair-deficient tumors, which have high mutation rates. This study highlights the importance of preventing and early detecting aggressive internal tumors in XP patients.
Article
Biochemistry & Molecular Biology
Ashan P. Wettasinghe, Melodee O. Seifi, Marco Bravo, Austen C. Adams, Aman Patel, Monica Lou, Dimithree Kahanda, Hao-Che Peng, Allison L. Stelling, Li Fan, Jason D. Slinker
Summary: DNA helicase activity is crucial for various DNA metabolic processes. This study investigates the binding and activity of helicases StXPB2 and AfXPB, revealing a concentration-dependent activity for AfXPB and a crossover between fast molecular wrench and slower conventional helicase modes. The AfXPB-Bax1 complex inhibits rapid activity, while the StXPB2-Bax1 complex induces rapid kinetics at higher concentrations.
Review
Biochemistry & Molecular Biology
Yuliya Krasikova, Nadejda Rechkunova, Olga Lavrik
Summary: Nucleotide excision repair (NER) is a versatile DNA repair pathway that is linked to neurological degeneration in patients with Xeroderma pigmentosum. Xeroderma pigmentosum patients typically have a high sensitivity to ultraviolet light due to DNA repair defects, leading to multiple skin and eye cancers.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Review
Health Care Sciences & Services
Monica Piccione, Anna Belloni Fortina, Giulia Ferri, Gloria Andolina, Lorenzo Beretta, Andrea Cividini, Emanuele De Marni, Francesca Caroppo, Ugo Citernesi, Rosa Di Liddo
Summary: Xeroderma Pigmentosum (XP) is a rare genetic syndrome characterized by extreme UV sensitivity, high risk of skin tumors, and neurological alterations. There is currently no cure, with management focusing on early diagnosis, UV protection, and surgical removal of skin cancers. Research aims to prevent or delay clinical signs of XP, with a focus on using liposomal nanotechnology to optimize drug administration.
JOURNAL OF PERSONALIZED MEDICINE
(2021)
Article
Multidisciplinary Sciences
Mihyun Kim, Hyun-Suk Kim, Areetha D'Souza, Kaitlyn Gallagher, Eunwoo Jeong, Kateryna Ogorodnik Le Meur, Chi-Lin Tsai, Miaw-Sheue Tsai, Minyong Kee, John A. Tainer, Jung-Eun Yeo, Walter J. Chazin, Orlando D. Scharer
Summary: The XPA and RPA proteins play essential roles in the assembly of the preincision complex in the nucleotide excision repair pathway. Mutations in the interaction sites of XPA and RPA inhibit the physical interaction and reduce the NER activity. The interaction between XPA-N and RPA32C is important for the initial association of XPA with NER complexes, while the interaction between XPA DBD and RPA70AB is needed for structural organization of the complex to license the dual incision reaction. The shape of the NER bubble is not colinear as previously thought, but rather the unwound DNA assumes a U-shape with the junctions localized in close proximity. The interaction between XPA and RPA70 is key for the organization of the NER preincision complex.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2022)
Article
Immunology
Gustavo S. Kajitani, Carolina Quayle, Camila C. M. Garcia, Wesley L. Fotoran, Juliana F. R. dos Santos, Gijsbertus T. J. van der Horst, Jan H. J. Hoeijmakers, Carlos F. M. Menck
Summary: Ultraviolet (UV) radiation is a common genotoxic agent that causes a variety of adverse effects on the skin. The DNA damage caused by UV radiation can be repaired by the Nucleotide Excision Repair (NER) pathway and specific photolyases. In NER-deficient mice, both types of photolesions have causal roles in UV-induced skin effects, and basal keratinocytes are the major cellular mediators of these effects.
FRONTIERS IN IMMUNOLOGY
(2022)
Review
Genetics & Heredity
Apurva Barve, Alisha A. Galande, Saroj S. Ghaskadbi, Surendra Ghaskadbi
Summary: Hydra, discovered in 1744, has become a popular research organism due to its remarkable regeneration capacity, unique tissue dynamics, continuous pattern formation, evolutionary position, and apparent lack of senescence. While there has been extensive research in the field of evolutionary developmental biology of hydra, recent focus has shifted to molecular mechanisms underlying various phenomena. Analysis of DNA repair mechanisms in hydra has revealed high similarity with vertebrate orthologues, hinting at ancient evolutionary origins and highlighting the importance of studying repair components and functions in this early metazoan.
FRONTIERS IN GENETICS
(2021)
Article
Multidisciplinary Sciences
Chikako Senju, Yuka Nakazawa, Taichi Oso, Mayuko Shimada, Kana Kato, Michiko Matsuse, Mariko Tsujimoto, Taro Masaki, Yasushi Miyazaki, Satoshi Fukushima, Satoshi Tateishi, Atsushi Utani, Hiroyuki Murota, Katsumi Tanaka, Norisato Mitsutake, Shinichi Moriwaki, Chikako Nishigori, Tomoo Ogi
Summary: Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by photosensitivity and a high risk of skin tumors due to DNA repair deficiency. This study identified two deep intronic mutations in the ERCC4/XPF gene in 17 cases of XP-F, a rare subtype of XP. These mutations result in reduced gene expression and early-onset skin cancers, highlighting the need for attention to these variants. Additionally, antisense oligonucleotides designed for these mutations can restore DNA repair capacity, suggesting potential therapeutic targets for XP-F.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2023)
Review
Genetics & Heredity
Marie Christine Martens, Steffen Emmert, Lars Boeckmann
Summary: Nucleotide excision repair is crucial for repairing UV-induced DNA damage, with alterations in NER genes possibly leading to disorders like Xeroderma pigmentosum. Recent research has focused on the functional relevance of splice variants and their connection to cancer.
Article
Multidisciplinary Sciences
Emmanuel Compe, Evanthia Pangou, Nicolas Le May, Clemence Elly, Cathy Braun, Ji-Hyun Hwang, Frederic Coin, Izabela Sumara, Kwang-Wook Choi, Jean-Marc Egly
Summary: The helicase XPD can localize with the motor protein Eg5 to mitotic spindles and the midbodies of human cells independently of other TFIIH subunits. The partnership between XPD and Eg5 is regulated by phosphorylation of Eg5/T926 by CDK1 and Eg5/S1033 by NEK6. This phosphorylation is required for Eg5 localization, checkpoint activation, and chromosome segregation in mitosis.
Review
Oncology
Nawar Al Nasrallah, Benjamin M. Wiese, Catherine R. Sears
Summary: XPC is not only important in skin cancer, but also plays a protective role in non-dermatologic cancers. In addition to its involvement in GG-NER, XPC also participates in other DNA repair pathways, DNA damage response, and transcriptional regulation. XPC expression levels and polymorphisms may impact development and could serve as predictive and therapeutic biomarkers for non-dermatologic cancers.
FRONTIERS IN ONCOLOGY
(2022)
Article
Genetics & Heredity
Liam Gaul, Jesper Q. Svejstrup
Summary: Cells utilize the transcription-coupled nucleotide excision repair (TC-NER) pathway to rapidly repair genes with RNA polymerase II (RNAPII) stalling, but the mechanisms of how RNAPII is remodeled, modified, or removed during repair remain enigmatic and subject to intense debate. Recent studies have shed light on the cellular response to UV-induced ubiquitylation and degradation of RNAPII, highlighting its impact on transcription and repair processes.
Article
Genetics & Heredity
Juan Antonio Garcia-Carmona, Matthew J. Yousefzadeh, Fernando Alarcon-Soldevilla, Eva Fages-Caravaca, Tra L. Kieu, Mariah A. Witt, Angel Lopez-Avila, Laura J. Niedernhofer, Jose Antonio Perez-Vicente
Summary: The study aimed to diagnose neurological impairment in adolescent patients, identifying xeroderma pigmentosum (XP) through whole-exome sequencing. Genetic analysis revealed recessive mutations in XPA affecting nucleotide excision repair (NER) capacity. The significantly impaired NER in the patient underscores the importance of considering XP in differential diagnosis for atypical neurodegeneration.
FRONTIERS IN GENETICS
(2021)
Review
Biochemistry & Molecular Biology
Riasha Pal, Nilanjan Paul, Deep Bhattacharya, Sudeshna Rakshit, Geetha Shanmugam, Koustav Sarkar
Summary: XPG is an important protein involved in DNA repair mechanisms, primarily in the Nucleotide Excision Repair pathway. It also plays a role in Base Excision Repair and Homologous Recombination Repair pathways. In addition to its role in repairing DNA damages, XPG is involved in R-loop formation. Unrepaired and prolonged DNA damage leads to genomic instability and various diseases.
MOLECULAR BIOLOGY REPORTS
(2022)
Article
Multidisciplinary Sciences
Jina Yu, Chunli Yan, Thomas Dodd, Chi-Lin Tsai, John A. Tainer, Susan E. Tsutakawa, Ivaylo Ivanov
Summary: The study presents cryo-EM based models of TFIIH and elucidates its conformational switching and regulatory mechanisms underlying its diverse functions in transcription and DNA repair. The study also reveals how TFIIH mutations are implicated in genetic diseases.
NATURE COMMUNICATIONS
(2023)
Review
Chemistry, Multidisciplinary
Katharina Amschler, Michael P. Schoen
Article
Chemistry, Multidisciplinary
Sander Bekeschus, Juliane Moritz, Iris Helfrich, Lars Boeckmann, Klaus-Dieter Weltmann, Steffen Emmert, Hans-Robert Metelmann, Ingo Stoffels, Thomas von Woedtke
APPLIED SCIENCES-BASEL
(2020)
Letter
Dermatology
Matthias A. Hermasch, Helena Janning, Viktor Schnabel, Wiebke Muschalek, Anette Bennemann, Michael P. Schoen, Regina C. Betz, Roland Dosch, Jorge Frank
JOURNAL OF INVESTIGATIVE DERMATOLOGY
(2021)
Letter
Dermatology
L. Vlahova, W. Kempf, M. P. Schoen, C. Mitteldorf
JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY
(2021)
Article
Biochemistry & Molecular Biology
Sander Bekeschus, Grit Liebelt, Jonas Menz, Julia Berner, Sanjeev Kumar Sagwal, Kristian Wende, Klaus-Dieter Weltmann, Lars Boeckmann, Thomas von Woedtke, Hans-Robert Metelmann, Steffen Emmert, Anke Schmidt
Summary: This passage discusses the use of gas plasma for cancer treatment along with several hypotheses regarding the mechanisms behind its cytotoxic effects on cancer cells. The focus is on cellular membranes exposed to reactive oxygen species generated by plasma, with theories involving aquaporins, NOX enzymes, and cholesterol content. Research on various tumor cell lines found that baseline metabolic activity had the strongest correlation with treatment sensitivity, indicating a potential new hypothesis to explore tumor cell resistance to gas plasma treatment in the field of oncology.
FREE RADICAL BIOLOGY AND MEDICINE
(2021)
Article
Biochemistry & Molecular Biology
Marie Christine Martens, Janin Edelkamp, Christina Seebode, Mirijam Schaefer, Susanne Staehlke, Saskia Krohn, Ole Jung, Hugo Murua Escobar, Steffen Emmert, Lars Boeckmann
Summary: The study successfully utilized CRISPR/Cas9 technology to knockout the SNAP29 gene in an immortalized human cell line, aiming to investigate its role in cellular homeostasis and signaling in humans independently of animal models.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Oncology
Marcel Kordt, Isabell Trautmann, Christin Schlie, Tobias Lindner, Jan Stenzel, Anna Schildt, Lars Boeckmann, Sander Bekeschus, Jens Kurth, Bernd J. Krause, Brigitte Vollmar, Eberhard Grambow
Summary: The study assessed the effect of cold atmospheric pressure plasma on squamous cell carcinoma and malignant melanoma, demonstrating a reduction in tumor growth and an increase in reactive species upon treatment. Cold atmospheric pressure plasma may serve as a potential adjuvant therapy option for skin cancer, indicating promising outcomes in in vivo experiments.
Review
Oncology
Mirijam Schaefer, Marie Luise Semmler, Thoralf Bernhardt, Tobias Fischer, Vinodh Kakkassery, Robert Ramer, Martin Hein, Sander Bekeschus, Peter Langer, Burkhard Hinz, Steffen Emmert, Lars Boeckmann
Summary: This review discusses the genetic landscape of squamous cell carcinoma and the potential use of indirubin-based small molecules in cancer therapy. It shows that these small molecules can inhibit cancer cell proliferation by targeting specific genes, thereby providing a potential treatment option for cancer.
Review
Genetics & Heredity
Marie Christine Martens, Steffen Emmert, Lars Boeckmann
Summary: Nucleotide excision repair is crucial for repairing UV-induced DNA damage, with alterations in NER genes possibly leading to disorders like Xeroderma pigmentosum. Recent research has focused on the functional relevance of splice variants and their connection to cancer.
Article
Oncology
Sander Bekeschus, Steffen Emmert, Ramona Clemen, Lars Boeckmann
Summary: The first Therapeutic ROS and Immunity in Cancer (TRIC) meeting was organized by the ZIK plasmatis research center and ONKOTHER-H research program in Germany, bringing together 66 scientists from 12 countries and 5 continents to discuss cutting-edge research on therapeutic ROS and immunology in cancer treatment, with a focus on gas plasma technology. The conference aimed to facilitate interdisciplinary discussions and explore innovative applications of gas plasma technology in cancer therapy.
Article
Medical Ethics
Katharina Beier, Alfred Simon, Michael P. Schon
ETHIK IN DER MEDIZIN
(2022)
Article
Biochemistry & Molecular Biology
Alica Fischle, Rico Schwarz, Franziska Wendt, Marcel Kordt, Robert Ramer, Lars Boeckmann, Martin Hein, Peter Langer, Steffen Emmert, Brigitte Vollmar, Burkhard Hinz
Summary: Indirubin has been identified as an active component in a traditional Chinese herbal mixture and has shown anticancer activity in patients with chronic leukemia. Multiple studies have focused on the mechanisms of its antitumor action, particularly the derivative indirubin-3'-monoxime (I3M). Additionally, synthetic indirubin N-glycosides have demonstrated antiproliferative and cytotoxic properties in various cancer cells. A sensitive LC-MS/MS method was developed and validated for quantification of indirubin N-glycosides KD87, KD85, and I3M in plasma and cell culture medium. The applicability of the method was demonstrated in a mouse plasma study.
Review
Oncology
Robert Ramer, Franziska Wendt, Felix Wittig, Mirijam Schafer, Lars Boeckmann, Steffen Emmert, Burkhard Hinz
Summary: Recent research suggests that the endocannabinoid system offers various pharmacotherapeutic targets for the treatment and prevention of skin cancer. This review highlights the anticarcinogenic mechanisms of cannabinoids at different stages of skin cancer progression, including inhibiting tumor growth, proliferation, invasion, and angiogenesis, as well as inducing apoptosis and autophagy. Cannabinoid compounds have shown promise as systemic chemotherapeutic treatments and for palliative care in cancer. The endocannabinoid system also plays a crucial role in maintaining skin function, and cannabinoids may be considered for the treatment and prevention of skin tumor diseases.
Article
Biochemistry & Molecular Biology
Veronika Banicka, Marie Christine Martens, Rudiger Panzer, David Schrama, Steffen Emmert, Lars Boeckmann, Alexander Thiem
Summary: Defects in DNA repair pathways, such as nucleotide excision repair (NER) deficiency in Xeroderma pigmentosum (XP), have been found to be associated with a positive response to immune checkpoint inhibition (ICI) treatment. This study used CRISPR/Cas9 to disrupt XPA gene in melanoma cells and identified specific gene mutations that are related to DNA damage repair and cell survival. These findings provide a basis for further investigation on the immunological consequences of XPA disruption in melanoma.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Health Care Sciences & Services
Caroline Beutner, Anja Lipschik, Luise Erpenbeck, Jason Holsapple, Michael P. Schoen, Hedwig Stanisz
Summary: The COVID-19 pandemic has severely disrupted the work-family balance of medical doctors, primarily due to insufficient childcare. Doctors feel that the measures taken by local governments are not sufficient, particularly placing the professional development of female doctors at risk. Proper and flexible childcare is essential for the career advancement of doctors.
Article
Dermatology
Matthew J. Davis, Gokul Srinivasan, Rachael Chacko, Sophie Chen, Anish Suvarna, Louis J. Vaickus, Veronica C. Torres, Sassan Hodge, Eunice Y. Chen, Sarah Preum, Kimberley S. Samkoe, Brock C. Christensen, Matthew R. Leboeuf, Joshua J. Levy
Summary: The development and application of AI algorithms are of great significance for the removal of cSCC, as they can improve operational efficiency and accuracy, especially for moderately and poorly differentiated tumors/ neoplasms. Further improvement is needed to maintain sensitivity to surrounding tissue and determine anatomical positioning.
EXPERIMENTAL DERMATOLOGY
(2024)
Article
Dermatology
Lingjing Chen, Qing Yu, Feiying Guo, Xuewen Wang, Zhenying Cai, Qiang Zhou
Summary: This study investigated the role and mechanisms of NTS in stress-induced hair growth inhibition. The results demonstrated that NTS effectively counteracted hair growth inhibition caused by stress and regulated the expression of multiple genes related to hair growth at the transcriptional level.
EXPERIMENTAL DERMATOLOGY
(2024)