Results 81 to 90 of about 22,652 (194)

The Motor Protein Kinesin-1 Links Neurofibromin and Merlin in a Common Cellular Pathway of Neurofibromatosis [PDF]

Journal of Biological Chemistry, 2002
Mutations in either of the two tumor suppressor genes NF1 (neurofibromin) and NF2 (merlin) result in Neurofibromatosis, a condition predisposing individuals to developing a variety of benign and malignant tumors of the central and peripheral nervous systems.
Mohamed-Ali, Hakimi, David W, Speicher, Ramin, Shiekhattar   +2 more
openaire   +2 more sources

NF1 Leucine Rich Domain‐Derived Extracellular Vesicles Remodel the Glioblastoma Immune Microenvironment via an ADAM17‐Associated Inflammatory Program

Journal of Extracellular Vesicles, Volume 15, Issue 8, August 2026.
NF1‐LRD‐derived EVs suppress glioma cells' invasion and reprogram TAMs through the ADAM17‐TNFα‐ICAM‐1 signaling axis. These EVs reduce migration recruitment, enhance pro‐inflammatory polarization, and modulate key pathways, collectively reshaping the GBM TME. (Created with Biorender.com) ABSTRACT Extracellular vesicles (EVs) are increasingly recognized
Yuganthini Vijayanathan, Jacqueline YT Yeo, Janice HY Tan, Fikri Bin Mohamed, Bernett Lee, Tatsuya Kozaki, Nurashikin Abdul Halim, Rachel LY Ho, Hai Tao Tu, Zhi Wei Zhang, Jann N. Sarkaria, Li Zeng, Florent Ginhoux, Ivy AW Ho   +13 more
wiley   +1 more source

Characterisation of the interaction between syndecan-2, neurofibromin and CASK: Dependence of interaction on syndecan dimerization [PDF]

, 2010
Neurofibromin and calcium/calmodulin-dependent serine protein kinase (CASK) are membrane-associated signalling and scaffolding proteins which are mutated in human genetic neurological disorders.
Volta, Manuela, Calza, Stefano, Roberts, Anne M., Roberts, Roland G.   +3 more
core   +1 more source

Case Report for Two Siblings Carrying Neurofibromatosis Type 1 with a Rare NF1: c.5392C>T Mutation

Balkan Journal of Medical Genetics, 2022
Neurofibromatosis type 1 (NF1) is a neurocutaneous syndrome caused by mutations on the NF1 gene, which is located at chromosome 17q11.2. Although an autosomal dominant inheritance pattern is well-established, about half of new cases are the result of de ...
Sayın Kocakap DB, Gündüz Ö, Özer L, Durak M   +3 more
doaj   +1 more source

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

Differential Effects of Neurofibromin Gene Dosage on Melanocyte Development [PDF]

, 2013
Mutations in neurofibromin (NF1) cause the dominant genetic disorder neurofibromatosis type 1. Neurofibromatosis is characterized by Schwann cell–based tumors and skin hyperpigmentation, resulting from both haploinsufficiency and loss of heterozygosity ...
Fuchs, H., Huang, J. L.-Y., Deo, M., Fuchs, Helmut, Van Raamsdonk, Catherine D., Deo, Mugdha, van Raamsdonk, C. D., de Angelis, Martin Hrabe, Huang, Jenny Li-Ying, Hrabě de Angelis, M.   +9 more
core   +1 more source

Psoriasis vulgaris occurring in a known case of neurofibromatosis type I: A rare association

Journal of Dr. NTR University of Health Sciences, 2016
Neurofibromatosis type 1 (NF-1) is an autosomal dominantly inherited neurocutaneous disorder due to mutations in the neurofibromin (NF) gene that encodes protein NF. NF regulates signal transduction by inactivating RAS proteins.
Konakanchi Venkata Chalam, Gummalla Ajay Kumar, Padmasri S Yandapalli, Anila P Sunandini   +3 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

Neurofibromin is actively transported to the nucleus [PDF]

, 2004
Mutations in the neurofibromatosis type 1 (NF1) tumor suppressor gene predispose individuals to a variety of benign and malignant tumors. Many tumor suppressors ‘shuttle’ between the nucleus and the cytoplasm, thus regulating their function.
Vandenbroucke, Ina, Coene, Elisabeth, Patrick Van Oostveldt, Elisabeth Coene, Van Oostveldt, Patrick, Messiaen, Ludwine, De Paepe, Anne, Ludwine Messiaen, Van Oostveldt, Patric, Ina Vandenbroucke, Anne De Paepe   +10 more
core   +1 more source

Clonal lineage of high grade serous ovarian cancer in a patient with neurofibromatosis type 1

Gynecologic Oncology Reports, 2018
Neurofibromatosis type 1 (NF1) is caused by mutations in the NF1 gene encoding neurofibromin, which negatively regulates Ras signaling. NF1 patients have an increased risk of developing early onset breast cancer, however, the association between NF1 and ...
Eric J. Norris, Wendell D. Jones, Marius D. Surleac, Andrei J. Petrescu, Darla Destephanis, Qing Zhang, Issam Hamadeh, Jeffrey S. Kneisl, Chad A. Livasy, Ram N. Ganapathi, David L. Tait, Mahrukh K. Ganapathi   +11 more
doaj   +1 more source