Results 41 to 50 of about 3,263 (170)

The WHO Classification of Genetic Tumour Syndromes: Considerations for Genetics

Clinical Genetics, Volume 110, Issue 3, Page 389-401, September 2026.
The WHO Classification of Tumours underpins the diagnosis of neoplastic conditions. The new WHO classification of genetic tumour syndromes (GTS) provides international standards for their diagnosis. This diagram highlights the chromosomal distribution of the genes involved in the GTS covered in this classification.
Ian A. Cree, Mark J. Arends, Joseph D. Khoury, Erika R. E. Denton, Anthony J. Gill, Alexander J. Lazar, Ian M. Frayling, Stefan M. Pfister, Mark A. Rubin, Katia R. M. Leite, Raymond Dalgleish, Elspeth A. Bruford, Sharon E. Plon, Ada Hamosh, Michael Francis Walsh, Gabrielle Goldman‐Lévy, Harshima Wijesinghe, William D. Foulkes, Dilani Lokuhetty   +18 more
wiley   +1 more source

Chronic Pain as an Early Diagnostic Clue in Hereditary Multiple Exostoses: Two Pediatric Cases Highlighting Diagnostic Delay

Clinical Case Reports, Volume 14, Issue 8, August 2026.
ABSTRACT Hereditary multiple exostoses (HME) is a rare autosomal dominant skeletal disorder characterized by the development of multiple osteochondromas adjacent to the growth plates. Although skeletal deformities and palpable masses are common findings, chronic pain may represent an early and underappreciated diagnostic clue, particularly in pediatric
Melissa Mariti Fraga, Valesca Oliveira Paes Tanaka, Luciana Tudech Salgueiro Pedro Paulo, Maria Carolina Santos, Carolina Costa Figueiredo, Nara Michelle de Araújo Evangelista, Vânia de Fátima Tonetto Fernandes, Guido de Paula Colares Neto   +7 more
wiley   +1 more source

Shear‐Activated von Willebrand Factor Captures Extracellular Vesicles to Promote Platelet Activation and Metastasis

Journal of Extracellular Vesicles, Volume 15, Issue 8, August 2026.
Under shear flow, stretched vWF captures platelets and EVs, and TF‐positive EVs amplify platelet activation and aggregation. Although tumour cells do not bind vWF directly, the resulting microthrombi trap circulating tumour cells and promote metastatic progression.
Yuanyuan Wang, Xiaobo Liu, Pascal Nakielski, Katrin Nekipelov, Amanda Salviano‐Silva, Alper Topuz, Alexander T. Bauer, Julian Kött, Jannis Akrivakis, Santra Brenna, Tomasz Downar, Neus Feliu, Gerd Bendas, Berta Puig, Stefan W. Schneider, Dmitry A. Fedosov, Christian Gorzelanny   +16 more
wiley   +1 more source

The Synthetic Melanocortin Agonist NDP‐MSH Ameliorates THSD7A‐Associated Membranous Nephropathy in an Active Immunization Mouse Model

The FASEB Journal, Volume 40, Issue 13, 15 July 2026.
Active immunization with recombinant THSD7A in mice induces autoreactive B cell activation and differentiation into CD138+ antibody‐secreting cells, leading to the production of anti‐THSD7A autoantibodies, glomerular immune injury and proteinuria, characteristic of membranous nephropathy. NDP‐MSH treatment modulates the MITF/IRF4 axis in primed B cells,
Mingzhuo Zhang, Mengxuan Chen, Yan Ge, William Gunning, Rujun Gong   +4 more
wiley   +1 more source

Hereditary Multiple Exostoses: Genetic, Radiologic, and Oncologic Insights from Twenty-one Patients

Acta Haematologica Oncologica Turcica
Aim: To characterize the clinical, radiological, and genetic features of genetically confirmed hereditary multiple exostoses (HME) in patients presenting with multiple exostoses and to contribute to the understanding of the phenotypic and genotypic ...
Abdulkerim Kolkıran, Melike Ataseven Kulalı, Tuğba Daşar, Firdevs Dinçsoy Bir, Ahmet Kablan, Şükriye Yılmaz, Alişan Daylak, Şule Yeşil, Gürses Şahin   +8 more
doaj   +1 more source

Breakpoint characterization of large deletions in EXT1 or EXT2 in 10 Multiple Osteochondromas families

BMC Medical Genetics, 2011
Background Osteochondromas (cartilage-capped bone tumors) are by far the most commonly treated of all primary benign bone tumors (50%). In 15% of cases, these tumors occur in the context of a hereditary syndrome called multiple osteochondromas (MO), an ...
Szuhai Karoly, Hogendoorn Pancras CW, Mees Kirsten, de Jong Danielle, Jennes Ivy, Wuyts Wim   +5 more
doaj   +1 more source

Infusible Extracellular Matrix Biomaterial Enhances Cell‐Specific Pro‐Repair Responses Following Acute Myocardial Infarction

Advanced Healthcare Materials, Volume 15, Issue 27, 17 July 2026.
We measure the cell‐specific responses of administering infusible ECM (iECM) in acute myocardial infarction (MI) across multiple timepoints. Using single‐nucleus RNA sequencing and spatial transcriptomics, we measure macrophage activation, fibroblast remodeling, increased vascular development, lymphangiogenesis, cardioprotection, and neurogenesis ...
Joshua M. Mesfin, Alexander Chen, Quincy P. Lyons, Michael B. Nguyen, Maria L. Karkanitsa, Justin Yu, Van K. Ninh, Emily Gardner, Elyse G. Wong, Sriya N. Paleti, Julian Cheng, Benjamin D. Bridgelal, Kate E. Reimold, Selena Cao, Connor Uhre, Colin G. Luo, Zhenxing Fu, Kevin R. King, Karen L. Christman   +18 more
wiley   +1 more source

The identification of a novel frameshift insertion mutation in the EXT1 gene in a Chinese family with hereditary multiple exostoses

Clinical Case Reports, 2022
To identify the pathogenic gene variation in a Chinese family with Hereditary Multiple Exostoses (HME). By examining blood‐sourced DNA and clinical manifestations of the proband and his family members, the whole exome sequencing (WES) and Sanger ...
Wanlu Liu, Xinwei Shi, Yuqi Li, Fuyuan Qiao, Yuanyuan Wu   +4 more
doaj   +1 more source

Proteolytic remodelling of the extracellular matrix by pericytes

The FEBS Journal, Volume 293, Issue 13, Page 3899-3953, July 2026.
Pericytes are specialised perivascular cells intimately connected with endothelial cells and essential for the maintenance of vascular beds. They contribute to the formation and remodelling of the extracellular matrix by actively secreting proteases and protease inhibitors.
Tina Burkhard, Ella Milne, Kate Qian, Paola Campagnolo, Salvatore Santamaria   +4 more
wiley   +1 more source

Human Proteoglycan Linkage Region Glycosyltransferases are Dimeric and Show Unexpected Specificities

Angewandte Chemie, Volume 138, Issue 3, 16 January 2026.
Non‐canonical glycopeptides of the proteoglycan linkage region are accessible by the enzymes B3GalT6 and GlcAT‐1 confirming a recently discovered rescue mode in glycosaminoglycan (GAG) biosynthesis. The crystal structure of B3GalT6 revealed a covalent dimer linked by a disulfide. Abstract We selected the N,O‐glycosylated proteoglycan bikunin as a model
Sascha Weidler, Ole Bundgaard, Markus Hessefort, Marisa Rädisch, Christopher Günther Franz Graf, Kevin Lam, Vanessa J. Neubauer, Johanna Eisenreich, Leonhard Köhler, Kelley W. Moremen, Catharina Steentoft, Henrik Clausen, Teng‐Yi Huang, Shang‐Cheng Hung, Clemens Steegborn, Michael Weyand, Carlo Unverzagt   +16 more
wiley   +2 more sources