Article
Multidisciplinary Sciences
Neeraj Agarwal, Sebastien Rinaldetti, Bassem B. Cheikh, Qiong Zhou, Evan P. Hass, Robert T. Jones, Molishree Joshi, Daniel V. LaBarbera, Simon R. V. Knott, Thomas R. Cech, Dan Theodorescu
Summary: The study identified TRIM28 and TRIM24 as regulators of hTERT expression in bladder cancer cells, with TRIM28 activating hTERT and TRIM24 suppressing its transcription. Phosphorylation of TRIM28 by mTORC1 releases it from TRIM24, inducing hTERT transcription. Additionally, TRIM28 expression promotes BC cell growth and stratifies patient outcomes, with mTORC1 inhibition suppressing TRIM28 phosphorylation and hTERT expression.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2021)
Article
Gastroenterology & Hepatology
Fanny E. R. Vuik, Stella A. Nieuwenburg, Iris D. Nagtegaal, Ernst J. Kuipers, Manon C. W. Spaander
Summary: The study found that younger patients were more likely to have signet-ring cells and poorly differentiated tumors, as well as a higher risk of lymph node metastases. Over time, there was an increase in the proportion of colorectal cancers diagnosed in women, especially in the younger age group.
ALIMENTARY PHARMACOLOGY & THERAPEUTICS
(2021)
Article
Biochemistry & Molecular Biology
Olivia M. Marx, Marc M. Mankarious, Melanie A. Eshelman, Wei Ding, Walter A. Koltun, Gregory S. Yochum
Summary: Despite a global decrease in colorectal cancer (CRC) incidence, the prevalence of early-onset colorectal cancer (EOCRC) has steadily increased. The understanding of genetic and molecular basis of EOCRC is limited. This study identified increased expression of c-MYC proto-oncogene (MYC) and its downstream targets in tumor samples. Elevated expression of the PVT1 long-non-coding RNA (lncRNA) was also detected. The findings suggest that deregulated MYC contributes to CRCs in younger patients.
Article
Biochemistry & Molecular Biology
YoungSoon Yang, Eva Bagyinszky, Seong Soo A. An, SangYun Kim
Summary: A PSEN2 gene mutation related to early onset Alzheimer's disease was identified for the first time in Korea. This mutation may have significant effects on brain function and interact with other mutations to cause the disease.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Biochemistry & Molecular Biology
Cristina Herrera-Pariente, Roser Capo-Garcia, Marcos Diaz-Gay, Sabela Carballal, Jenifer Munoz, Joan Llach, Ariadna Sanchez, Laia Bonjoch, Coral Arnau-Collell, Yasmin Soares de Lima, Mariano Golubicki, Gerhard Jung, Juan Jose Lozano, Antoni Castells, Francesc Balaguer, Luis Bujanda, Sergi Castellvi-Bel, Leticia Moreira
Summary: The study aimed to identify new candidate genes involved in gastric cancer predisposition through whole-exome sequencing, revealing promising genes such as APC, FAT4, CTNND1, and TLR2. These results represent a significant step towards the discovery of new genes associated with germline predisposition to gastric cancer.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Oncology
Tang Tang, Xintao Tan, Ze Wang, Shuo Wang, Yapeng Wang, Jing Xu, Xiajie Wei, Dianzheng Zhang, Qiuli Liu, Jun Jiang
Summary: This study investigated inherited mutations and their association with clinical features and treatment response in young-onset prostate cancer patients. The results showed a high frequency of DRG mutations in early-onset prostate cancer patients, who also had shorter progression-free survival. Combination therapy of ADT with radiotherapy or chemotherapy may be effective in treating prostate cancer caused by HRR-related gene mutations.
FRONTIERS IN ONCOLOGY
(2022)
Article
Pediatrics
Murat Cakir, Elif Sag, Burcu Guven, Ulas Emre Akbulut, Fatma Issi, Alper Han Cebi, Thomas Muller, Denise Aldrian, Andreas R. Janecke
Summary: Congenital diarrheal disorders (CDDs) are rare enteropathies that typically present in infants. This study analyzed the clinical and genetic findings of 24 infants with CDDs, revealing that genetic diagnosis can improve treatment outcomes by identifying underlying causes.
PEDIATRICS AND NEONATOLOGY
(2021)
Article
Genetics & Heredity
Veronika Weyerer, Markus Eckstein, Pamela L. Strissel, Adrian Wullweber, Fabienne Lange, Lars Toegel, Carol I. Geppert, Danijel Sikic, Helge Taubert, Sven Wach, Bernd Wullich, Arndt Hartmann, Robert Stoehr, Johannes Giedl
Summary: By analyzing multiple whole-organ mapping bladder cancer specimens, it was found that TERT promoter mutations may be an early step in bladder cancer carcinogenesis, with the contribution of other gene mutations being necessary for tumor development, as indicated by the presence of mutated TERT promoter regions in non-invasive urothelial lesions.
Article
Microbiology
Monica Parra-Grande, Martin Ore-Arce, Llucia Martinez-Priego, Giuseppe D'Auria, Ramon Rossello-Mora, Marta Lillo, Andrea Sempere, Blanca Lumbreras, Victoria Sanchez-Hellin
Summary: Microbiota may contribute to the development of various diseases, including cancer. This study aimed to characterize the bladder microbiota in patients with malignant bladder neoplasia and identify potential differences in microbial composition between tumor and non-tumor tissues. The study found significant differences in microbial richness and composition according to tumor grade, as well as higher microbial richness in non-tumor tissues. The presence of specific microbial profiles suggests a protective role for certain microbiota in bladder cancer.
FRONTIERS IN MICROBIOLOGY
(2022)
Article
Urology & Nephrology
Raquel Carrasco, Mercedes Ingelmo-Torres, Ascension Gomez, Fiorella L. Roldan, Natalia Segura, Maria Jose Ribal, Antonio Alcaraz, Laura Izquierdo, Lourdes Mengual
Summary: We identified the TERT c.-124C > T mutation as a potential biomarker of aggressivity in MIBC patients after RC, and found that CTC enumeration is an independent prognostic biomarker for tumor progression and cancer specific survival. CTC enumeration can detect tumor progression earlier than imaging techniques.
WORLD JOURNAL OF UROLOGY
(2022)
Article
Clinical Neurology
Olena Korvatska, Stephanie A. Bucks, Rebecca A. Yoda, Amber Nolan, Michael O. Dorschner, Debby Tsuang, Suman Jayadev, Wendy H. Raskind, Thomas D. Bird
Summary: This study found a variant in the NOTCH3 gene that is associated with the clinical and pathological manifestations of CADASIL, highlighting the genetic complexity of AD and related dementia.
JOURNAL OF THE NEUROLOGICAL SCIENCES
(2023)
Article
Geriatrics & Gerontology
Anna Bartoletti-Stella, Martina Tarozzi, Giacomo Mengozzi, Francesca Asirelli, Laura Brancaleoni, Nicola Mometto, Michelangelo Stanzani-Maserati, Simone Baiardi, Simona Linarello, Marco Spallazzi, Roberta Pantieri, Elisa Ferriani, Paolo Caffarra, Rocco Liguori, Piero Parchi, Sabina Capellari
Summary: This study reveals the genetic contribution to early-onset Alzheimer's disease (EOAD) in Italian patients. Specific gene variants have been identified as risk factors for EOAD, and the combination of these variants can explain a significant proportion of cases. Comprehensive genetic screening is important for clinical purposes and understanding the overlapping pathogenic mechanisms between different forms of dementia.
FRONTIERS IN AGING NEUROSCIENCE
(2022)
Article
Radiology, Nuclear Medicine & Medical Imaging
Yiming Gao, Naziya Samreen, Samantha L. Heller
Summary: The incidence of breast cancer in younger women is increasing, mainly driven by an increase in luminal cancer. Poorer survival rates and an increase in stage IV disease among younger women with even early-stage luminal cancers suggest distinct biological characteristics. Pregnancy-associated breast cancer is also a contributing factor to the rise in early-onset breast cancer. The importance of early education and awareness is emphasized.
Review
Oncology
Zhen Ma, Xiaolong Liu, Maswikiti Ewetse Paul, Mali Chen, Peng Zheng, Hao Chen
Summary: Early-onset gastric cancer (EOGC) is a major social burden with unclear causes and clinical misunderstandings. Patients are often diagnosed at advanced stages, with contradictory research findings. EOGC is characterized by low survival rates, rapid progression, and unique molecular genetic mechanisms, necessitating improved definitions and guidelines for accurate diagnosis and treatment strategies.
Article
Medicine, General & Internal
Seong Hyeon Yu, Sung Sun Kim, Hyungki Lee, Shinseung Kim, Taek Won Kang
Summary: This study evaluated the genomic information of non-muscle-invasive bladder cancer (NMIBC) and identified high tumor mutation burden, EGFR mutation, and TERT mutation as significant factors associated with tumor recurrence.
Article
Oncology
Carolyn D. Hurst, Margaret A. Knowles
Summary: Non-muscle-invasive bladder cancer (NMIBC) includes different stages and pathological types of tumors, which are associated with diverse clinical outcomes. Accumulated molecular information on NMIBC provides insights into improved disease management in the future.
UROLOGIC ONCOLOGY-SEMINARS AND ORIGINAL INVESTIGATIONS
(2022)
Article
Surgery
Katrin Peckert-Maier, Alfrun Schoenberg, Andreas B. Wild, Dmytro Royzman, Gabriele Braun, Lena Stich, Karina Hadrian, Philipp Tripal, Claus Cursiefen, Alexander Steinkasserer, Elisabeth Zinser, Felix Bock
Summary: The use of the immune modulator soluble CD83 (sCD83) to pre-incubate donor tissue significantly improves graft survival in a high-risk corneal transplantation model by modulating recipient M phi and DCs towards tolerance and establishing a tolerogenic microenvironment. This functional strategy opens up new therapeutic options in transplantation.
AMERICAN JOURNAL OF TRANSPLANTATION
(2022)
Review
Biochemistry & Molecular Biology
Katrin Peckert-Maier, Dmytro Royzman, Pia Langguth, Anita Marosan, Astrid Strack, Atefeh Sadeghi Shermeh, Alexander Steinkasserer, Elisabeth Zinser, Andreas B. Wild
Summary: CD83 protein is a potential candidate for pro-resolution therapy in chronic inflammatory diseases and transplant rejection. Both mCD83 and sCD83 are involved in resolution of inflammation and play essential roles in positive selection of CD4(+) T cells.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Pathology
Nour-Al-Dain Marzouka, Pontus Eriksson, Carina Bernardo, Carolyn D. Hurst, Margaret A. Knowles, Gottfrid Sjodahl, Fredrik Liedberg, Mattias Hoglund
Summary: The precise classification of tumors into molecular subtypes is important for future research and optimal treatment. Using the Lund Taxonomy system, non-muscle-invasive tumors were classified into specific molecular subtypes with distinct gene mutation, genomic, and clinical profiles. The genomically unstable subtype was found to be a high-risk group for progression, with almost all progression events occurring within 12 months.
JOURNAL OF MOLECULAR DIAGNOSTICS
(2022)
Article
Immunology
Dmytro Royzman, Darja Andreev, Lena Stich, Katrin Peckert-Maier, Andreas B. Wild, Elisabeth Zinser, Petra Muehl-Zurbes, Evan Jones, Susanne Adam, Silke Frey, Maximilian Fuchs, Meik Kunz, Tobias Baeuerle, Lisa Nagel, Georg Schett, Aline Bozec, Alexander Steinkasserer
Summary: Soluble CD83 induces resolution of inflammation and prevents bone erosion in autoimmune arthritis by reducing joint swelling and expression levels, inhibiting osteoclast formation, and regulating macrophages and metallothionein expression. The signaling cascade downstream to CD83 binding involves the TRIF pathway.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Multidisciplinary Sciences
Joshua I. Warrick, Margaret A. Knowles, Carolyn D. Hurst, Lauren Shuman, Jay D. Raman, Vonn Walter, Jeffrey Putt, Lars Dyrskjot, Clarice Groeneveld, Mauro A. A. Castro, A. Gordon Robertson, David J. DeGraff
Summary: In this study, a transcriptional network of cell cycle dysregulation in noninvasive papillary urothelial carcinoma (NIPUC) was identified. The activity of transcription factors in this network was associated with mutational burden, copy number instability, and other characteristics. The findings suggest that transcription factor activity plays a prominent role in driving cell cycle dysregulation in NIPUC.
SCIENTIFIC REPORTS
(2022)
Article
Oncology
Geoffrey A. Pettitt, Carolyn D. Hurst, Zubeda Khan, Helen R. McPherson, Matthew C. Dunning, Olivia Alder, Fiona M. Platt, Emma V. Black, Julie E. Burns, Margaret A. Knowles
Summary: Resistance to FGFR inhibitors is common in bladder cancer, and various molecular profiles and mechanisms contribute to this resistance. Personalized therapy for FGFR-driven cancers is challenging due to the heterogeneity in resistance mechanisms and the persistence of resistant cell populations.
JOURNAL OF PATHOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Pia Langguth, Katrin Peckert-Maier, Philipp Beck, Christine Kuhnt, Christina Drassner, Andrea Deinzer, Alexander Steinkasserer, Andreas B. Wild
Summary: Macrophages are highly plastic cells and understanding their activation and function is key to understanding immunological balance. The CD83 molecule, expressed on activated immune cells and tissue resident macrophages, has been investigated for its potential role in modulating macrophage biology. This study reveals the kinetics and trafficking of CD83 in LPS-activated macrophages, suggesting its importance in early macrophage activation and subsequent cellular fate.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
(2023)
Article
Biochemistry & Molecular Biology
Atefeh Sadeghi Shermeh, Dmytro Royzman, Christine Kuhnt, Christina Drassner, Lena Stich, Alexander Steinkasserer, Ilka Knippertz, Andreas B. Wild
Summary: The different classes of AhR ligands have varying effects on the phenotype and function of hMoDCs. BP induces a tolerogenic response in mature DCs, while this effect is not observed to the same extent with FICZ or I3S. These findings highlight the differential contribution of AhR ligands to DC responses and suggest the need for further studies to understand the underlying mechanisms and molecules involved.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Immunology
Katrin Peckert-Maier, Pia Langguth, Astrid Strack, Lena Stich, Petra Muehl-Zuerbes, Christine Kuhnt, Christina Drassner, Elisabeth Zinser, Marius Wrage, Jochen Mattner, Alexander Steinkasserer, Dmytro Royzman, Andreas B. Wild
Summary: This study identifies CD83 as a marker for IL-4 stimulated pro-resolving M phi and shows that CD83 is important for the phenotype and function of these M phi. CD83-deficient M phi exhibit reduced phagocytic capacity, altered STAT-6 phosphorylation pattern, increased production of pro-inflammatory mediators, enhanced stimulation of T cell proliferation, and altered tissue reconstitution after wound infliction.
FRONTIERS IN IMMUNOLOGY
(2023)
Article
Multidisciplinary Sciences
Pia Sinner, Katrin Peckert-Maier, Hashem Mohammadian, Christine Kuhnt, Christina Drassner, Vasiliki Panagiotakopoulou, Simon Rauber, Mathias Linnerbauer, Zhana Haimon, Dmytro Royzman, Deborah Kronenberg-Versteeg, Andreas Ramming, Alexander Steinkasserer, Andreas B. Wild
Summary: The expression and regulation of CD83 in microglia play a crucial role in resolving neuroinflammation. The absence of CD83 leads to over-activation of microglia, exacerbating the disease pathology.
NATURE COMMUNICATIONS
(2023)
Article
Cell Biology
Heather L. Martin, Amy L. Turner, Julie Higgins, Anna A. Tang, Christian Tiede, Thomas Taylor, Sitthinon Siripanthong, Thomas L. Adams, Iain W. Manfield, Sandra M. Bell, Ewan E. Morrison, Jacquelyn Bond, Chi H. Trinh, Carolyn D. Hurst, Margaret A. Knowles, Richard W. Bayliss, Darren C. Tomlinson
Summary: This study reveals a new mechanism of kinase inhibition by capturing the intermediate activation state of PAK5. It provides a potential therapeutic target for urothelial cancer cells and suggests that inhibiting PAK5 could have anti-tumor effects on cell survival and proliferation.
Review
Medicine, General & Internal
Lars Dyrskjot, Donna E. Hansel, Jason A. Efstathiou, Margaret A. Knowles, Matthew D. Galsky, Jeremy Teoh, Dan Theodorescu
Summary: Bladder cancer is a global health issue with distinct molecular subtypes and pathogenic pathways. Early detection and diagnosis are crucial for improving patient outcomes. Treatment options vary depending on the invasion level and include surgery and immunotherapy. Effective management requires a multidisciplinary approach that considers patient characteristics and molecular disease characteristics.
NATURE REVIEWS DISEASE PRIMERS
(2023)
Article
Biochemistry & Molecular Biology
Judith Sommer, Hanna Ehnis, Tatjana Seitz, Julia Schneider, Andreas B. Wild, Sandra Moceri, Christa Buechler, Aline Bozec, Georg F. Weber, Susanne Merkel, Ruth Beckervordersandforth, Alexander Steinkasserer, Roland Schuele, Jonel Trebicka, Arndt Hartmann, Anja Bosserhoff, Stephan von Hoersten, Peter Dietrich, Claus Hellerbrand
Summary: This study finds that obesity leads to inflammation in visceral adipose tissue, with macrophages playing a significant role. FHL2 expression is enhanced in VAT of obese individuals, and it is involved in the interaction between macrophages and adipocytes, contributing to the development of obesity.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Meeting Abstract
Medicine, Research & Experimental
Joshua Warrick, Margaret Knowles, Carolyn Hurst, Lauren Shuman, Jay Raman, Vonn Walter, Jeffrey Putt, Lars Dyrskjot, Mauro Castro, A. Gordon Robertson, David De Graff
LABORATORY INVESTIGATION
(2022)