Results 101 to 110 of about 33,733 (216)

Circulating microRNA signatures reveal core and reversible dysregulation in obesity via machine learning

The Journal of Physiology, EarlyView.
Abstract figure legend Machine learning analysis of circulating microRNA (miRNA) profiles identified a minimal set of biomarkers that distinguish individuals with obesity from lean individuals both before and after weight‐loss intervention. Comparative analyses revealed heterogeneous molecular responses to weight reduction, with some miRNAs showing ...
Yuan Yue, Rajesh Katare, Jeremiah Deng, Daniel Alencar Da Costa, Patrick Manning   +4 more
wiley   +1 more source

The NF1 tumor suppressor regulates PD-L1 and immune evasion in melanoma

Cell Reports
Summary: Hotspot BRAF, hotspot NRAS, and NF1 loss-of-function mutations are found in approximately 50%, 25%, and 15% of cutaneous melanomas, respectively. Compared to mutant BRAF and NRAS, the role of NF1 loss in melanoma remains understudied.
Diana Berry, Dan Moldoveanu, Shivshankari Rajkumar, Mathieu Lajoie, Tiffany Lin, Daméhan Tchelougou, Samridhi Sakthivel, Itai Sharon, Antoine Bernard, Sandy Pelletier, Yael Ripstein, Alan Spatz, Wilson H. Miller, Rahima Jamal, Réjean Lapointe, Anne-Marie Mes-Masson, Kevin Petrecca, Ari-Nareg Meguerditchian, Keith Richardson, Beatrice Wang, May Chergui, Marie-Christine Guiot, Kevin Watters, John Stagg, T. Martin Schmeing, Francis Rodier, Simon Turcotte, Catalin Mihalcioiu, Sarkis Meterissian, Ian R. Watson   +29 more
doaj   +1 more source

Urokinase Plasminogen Activator Receptor‐Associated Protein (uPARAP) as a Potential Next Generation Molecular Target for Treatment of Gastrointestinal Stromal Tumors (GIST)

International Journal of Cancer, Volume 159, Issue 3, Page 797-808, 1 August 2026.
A key component of the collagen internalization and lysosomal degradation cellular machinery, uPARAP may contribute to cancer progression. Here, the authors explored the expression of uPARAP in gastrointestinal stromal tumors using well‐annotated clinical patient samples and specimens from cell line‐ and patient‐derived xenografts.
Chao‐Chi Wang, Flavia Paternostro, Agnieszka Wozniak, Lore De Cock, Luna De Sutter, Kimberly Verbeeck, Ulla Vanleeuw, Daniël Gorgels, Che‐Jui Lee, Raf Sciot, Patrick Schöffski   +10 more
wiley   +1 more source

Personalized Selumetinib Dosing in Pediatric Neurofibromatosis Type 1: Insights From a Pilot Therapeutic Drug Monitoring Study

Pediatric Blood &Cancer, Volume 73, Issue 7, July 2026.
ABSTRACT Objective To evaluate selumetinib exposure using therapeutic drug monitoring (TDM) in pediatric patients with neurofibromatosis type 1 (NF1) and plexiform neurofibromas (PN), assess interpatient pharmacokinetic variability, and explore the relationship between drug exposure, clinical response, and adverse effects.
Janka Kovács, Zoltán Köllő, Balázs Gellért Karvaly, Mahmoud Obeidat, Rita Nagy, Péter Hegyi, Brigitta Teutsch, Eszter Tuboly, Miklós Garami   +8 more
wiley   +1 more source

Evaluating the Utility of Paired Tumor and Germline Targeted DNA Sequencing for Pediatric Oncology Patients: A Single Institution Report

Pediatric Blood &Cancer, Volume 73, Issue 7, July 2026.
ABSTRACT Objective To evaluate the diagnostic yield and utility of universal paired tumor–normal multigene panel sequencing in newly diagnosed pediatric solid and central nervous system (CNS) tumor patients and to compare the detection of germline pathogenic/likely pathogenic variants (PV/LPVs) against established clinical referral criteria for cancer ...
Natalie Waligorski, Rebecca Ronsley, Shannon M. Stasi, Jeffrey Stevens, Erin R. Rudzinski, Christina M. Lockwood, Sarah E. S. Leary, Bonnie L. Cole, Michelle A. Ting, Vera Paulson   +9 more
wiley   +1 more source

Optimizing Diagnostic Accuracy of Clinical Red Flags in RASopathies

American Journal of Medical Genetics Part A, Volume 200, Issue 7, Page 1608-1618, July 2026.
ABSTRACT RASopathies are a group of genetic disorders caused by pathogenic variants in the RAS‐mitogen‐activated protein kinase (RAS–MAPK) signaling pathway, often presenting with congenital heart defects, craniofacial dysmorphisms, and developmental delays. To assess the diagnostic yield of genetic testing in patients with suspected RASopathies and to
Emanuele Bobbio, Martina Caiazza, Emanuele Monda, Giustina Aruta, Alberto Budillon, Augusto Esposito, Adelaide Fusco, Annapaola Cirillo, Marta Rubino, Immacolata Viscovo, Gioacchino Scarano, Matteo Della Monica, Vincenzo Nigro, Giulio Piluso, Leandro Pecchia, Maria Giovanna Russo, Giuseppe Limongelli   +16 more
wiley   +1 more source

Quality of Life in Children with Neurofibromatosis Type 1: Agreement between Parents and Patients, and the Role of Disease Severity and Visibility

Children
Background: Neurofibromatosis type 1 (NF1) is a genetic disorder that affects multiple systems in the body, often leading to physical disfigurements and a wide range of clinical symptoms.
Nicola Davide Cavallo, Paola Maietta, Silverio Perrotta, Pasquale Moretta, Marco Carotenuto, Maria Esposito, Gabriella Santangelo, Claudia Santoro   +7 more
doaj   +1 more source

Quantitative Control of Transposable Elements: From Genome Plasticity to Immune Regulatory Circuits

Cell Biochemistry and Function, Volume 44, Issue 7, July 2026.
ABSTRACT Transposable elements (TEs) constitute nearly half of the human genome and are increasingly recognized as context‐dependent regulators of genome function rather than passive repetitive DNA. This Review synthesizes classical and recent evidence on TE biology, including TE classification, mechanisms of mobilization, host restriction pathways ...
Irving Jesús Reyes‐Barragán
wiley   +1 more source

Eye Disorders in Neurofibromatosis (NF1)

Collegium antropologicum, 2005
Neurofibromatosis type 1 (NF 1) is an autosomal dominant disorder with high index of spontaneous mutations and extremely varied and impredictible clinical manifestations. The aim of this work was to give an account of eye disorders in NF1. 132 patients of age 0-16 years with NF1 were followed up for 15 years.
Cerovski, Branimir, Sabol, Zlatko, Jukić, Tomislav, Katušić, Damir, Kordić, Rajko   +4 more
openaire   +3 more sources

Retroperitoneal Extra‐Adrenal Paraganglioma Presenting With Secondary Amenorrhea and Hypertension in an Adolescent: A Rare Case From Sub‐Saharan Africa

Clinical Case Reports, Volume 14, Issue 7, July 2026.
ABSTRACT Extra‐adrenal paragangliomas are rare neuroendocrine tumors that may cause hypertension and reproductive dysfunction in adolescents. We report a 16‐year‐old girl with uncontrolled hypertension and secondary amenorrhea caused by a functional Organ of Zuckerkandl paraganglioma.
Getasew Kassaw Alemu, Ibraist Yohannes Haileyesus, Hirsi Haahi Ahmed, Ahmednasir Abdi Hasan, Mubarek Abdi Mohamed   +4 more
wiley   +1 more source