Results 61 to 70 of about 296 (112)

Selumetinib as a Target Therapy in Progressive Paediatric Low‐Grade Gliomas—Case Series (pLGG)

Journal of Paediatrics and Child Health, Volume 62, Issue 8, Page 1499-1508, August 2026.
ABSTRACT Background Optic pathway gliomas (OPGs) occur in 15%–20% of children with neurofibromatosis type 1 (NF1). While smaller gliomas may be only monitored, the current standard of care for symptomatic ones relies on chemotherapy, most commonly carboplatin and vincristine.
Laura Trapani, Giulia Gortani, Andrea Magnolato, Flora Maria Murru, Elisabetta Cattaruzzi, Laura Diplotti, Paola Michieletto, Silvia Giganti, Davide Zanon, Alessandra Maestro, Valentina Kiren, Egidio Barbi, Irene Bruno   +12 more
wiley   +1 more source

A haploinsufficiency restoration strategy corrects neurobehavioral deficits in Nf1+/– mice

The Journal of Clinical Investigation
Neurofibromatosis type 1 (NF1) is a genetic disorder caused by mutations of the NF1 tumor suppressor gene resulting in the loss of function of neurofibromin, a GTPase-activating protein (GAP) for Ras.
Su Jung Park, Jodi L. Lukkes, Ka-Kui Chan, Hayley P. Drozd, Callie B. Burgin, Shaomin Qian, Morgan McKenzie Sullivan, Cesar Gabriel Guevara, Nolen Cunningham, Stephanie Arenas, Makenna A. Collins, Jacob Zucker, JinHee Won, Abbi Smith, Li Jiang, Dana K. Mitchell, Steven D. Rhodes, Steven P. Angus, D. Wade Clapp   +18 more
doaj   +1 more source

Hippo pathway at the crossroads of stemness and therapeutic resistance in breast cancer

Molecular Oncology, Volume 20, Issue 7, Page 1667-1693, July 2026.
Dysregulation of the Hippo pathway drives nuclear accumulation of YAP/TAZ, activating stemness‐related transcriptional programs that sustain breast cancer stemness and fuel therapeutic resistance across subtypes, underscoring Hippo signaling as a targetable vulnerability. Figure created and edited with BioRender.com.
Giulia Schiavoni, Antonella Palmese, Stefano Scalera, Laura Cipriani, Davide Mascolo, Patrizia Vici, Teresa Arcuri, Lorena Filomeno, Eriseld Krasniqi, Giovanni Blandino, Giulia Bon, Marcello Maugeri‐Saccà   +11 more
wiley   +1 more source

Metastatic Testicular Germ Cell Tumor in a Patient With Neurofibromatosis Type 1: Treatment With Trametinib Based on NF1 Gene Mutation

IJU Case Reports, Volume 9, Issue 4, July 2026.
ABSTRACT Introduction Neurofibromatosis type 1 (NF1) is a genetic disorder that increases the risk of various tumors. However, its association with testicular germ cell tumors (GCTs) is rare. We report a case of metastatic GCT in an NF1 patient treated with precision medicine.
Keita Goto, Toshiki Kijima, Yusuke Sato, Kousuke Watanabe, Hidenori Kage, Katsutoshi Oda, Tatsunori Shimoi, Kazuyuki Ishida, Haruki Kume, Takao Kamai   +9 more
wiley   +1 more source

Case Report: A somatic NF1 splice-altering variant identified in lesional tissue in peripheral blood-negative segmental facial neurofibromatosis

Frontiers in Neuroscience
BackgroundNeurofibromatosis type 1 (NF1) is a common autosomal dominant disorder caused by loss-of-function variants in the NF1 gene. Segmental neurofibromatosis represents a rare mosaic form resulting from postzygotic mutations and is often ...
Song Su, Song Su, Haochen Zou, Yinhua Lin, Huafang Jiang, Ying Ren, Ying Ren, Wenchao Zhang, Wenchao Zhang, Wandong Hu, Wandong Hu, Deyue Li, Deyue Li, Wei Zhang, Hongwei Zhang, Hongwei Zhang   +15 more
doaj   +1 more source

From Synapses to Circuits, the Role of KIBRA and the WWC Family in Adaptive Brain Function

Journal of Neurochemistry, Volume 170, Issue 7, July 2026.
KIBRA (WWC1) has been the subject of scientific interest since its initial association with nonpathological variation in human memory performance. This review discusses subsequent work in animal models demonstrating that KIBRA supports memory function.
Lenora J. Volk
wiley   +1 more source

Loss of neurofibromin Ras-GAP activity enhances the formation of cardiac blood islands in murine embryos

eLife, 2015
Type I neurofibromatosis (NF1) is caused by mutations in the NF1 gene encoding neurofibromin. Neurofibromin exhibits Ras GTPase activating protein (Ras-GAP) activity that is thought to mediate cellular functions relevant to disease phenotypes.
Amanda D Yzaguirre, Arun Padmanabhan, Eric D de Groh, Kurt A Engleka, Jun Li, Nancy A Speck, Jonathan A Epstein   +6 more
doaj   +1 more source

A Diagnostic Challenge: Unilateral Gingival Enlargement With Altered Tooth Eruption in a Paediatric Patient

Oral Diseases, EarlyView.
Luca Cricenti, Rossella Ninivaggi, Federico Liguori, Nicola Scotti, Allegra Comba, Patrizia Defabianis, Federica Romano   +6 more
wiley   +1 more source

Neurodevelopmental and Psychiatric Studies in Children and Adolescents With Neurofibromatosis Type I: A Comprehensive Scoping Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, Volume 201, Issue 4, Page 257-269, June 2026.
ABSTRACT A comprehensive synthesis of the broad range of neurodevelopmental and psychiatric manifestations in NF1 is needed to identify knowledge gaps and future directions for NF1 research. In the following scoping review, we identify and summarize the scope of research that examines neurodevelopmental and psychiatric manifestations, both as ...
Meera Chopra, Tin‐Suet Joan Lee, Jacob Vorstman, Patricia Parkin, Louise Gallagher, Aneta Krakowski   +5 more
wiley   +1 more source

Absence of Neurofibromin Induces an Oncogenic Metabolic Switch via Mitochondrial ERK-Mediated Phosphorylation of the Chaperone TRAP1

Cell Reports, 2017
Mutations in neurofibromin, a Ras GTPase-activating protein, lead to the tumor predisposition syndrome neurofibromatosis type 1. Here, we report that cells lacking neurofibromin exhibit enhanced glycolysis and decreased respiration in a Ras/ERK-dependent
Ionica Masgras, Francesco Ciscato, Anna Maria Brunati, Elena Tibaldi, Stefano Indraccolo, Matteo Curtarello, Federica Chiara, Giuseppe Cannino, Elena Papaleo, Matteo Lambrughi, Giulia Guzzo, Alberto Gambalunga, Marco Pizzi, Vincenza Guzzardo, Massimo Rugge, Stefania Edith Vuljan, Fiorella Calabrese, Paolo Bernardi, Andrea Rasola   +18 more
doaj   +1 more source