Results 41 to 50 of about 24,558 (240)

Neurofibromin knockdown in glioma cell lines is associated with changes in cytokine and chemokine secretion in vitro. [PDF]

, 2018
The neurofibromin-1 tumor suppressor gene (NF1) is altered in approximately 20% of sporadic glioblastoma (GBM) cases. NF1 deficient GBM frequently shows a mesenchymal gene expression signature, suggesting a relationship between NF1 status and the tumor ...
Mukherjee, Joydeep, Pieper, Russell O, Wood, Matthew D   +2 more
core   +3 more sources

Manejo quirúrgico de malformaciones del pie por neurofibromatosis tipo 1. Reporte de caso

Revista Colombiana de Ortopedia y Traumatología
Introducción. La neurofibromatosis (NF) es un síndrome neurocutáneo que puede afectar diferentes órganos y sistemas. Esta es una enfermedad huérfana-rara y su manejo representa un desafío clínico. Presentación del caso. Mujer de 33 años con malformación
Nathaly Patiño-Vargas, Juan Pablo López-García, Carlos Enrique Ramírez-Dávila, Mauricio Zuluaga-Botero, Paola Andrea Kafury-Goeta, Carlos Andrés Lores-Restrepo   +5 more
doaj   +1 more source

Genetic interactions between neurofibromin and endothelin receptor B in mice. [PDF]

PLoS ONE, 2013
When mutations in two different genes produce the same mutant phenotype, it suggests that the encoded proteins either interact with each other, or act in parallel to fulfill a similar purpose.
Mugdha Deo, Jenny Li-Ying Huang, Catherine D Van Raamsdonk   +2 more
doaj   +1 more source

Genomic profiling of malignant peritoneal mesothelioma reveals recurrent alterations in epigenetic regulatory genes BAP1, SETD2, and DDX3X. [PDF]

, 2017
Malignant mesothelioma is a rare cancer that arises from the mesothelial cells that line the pleural cavity and less commonly from the peritoneal lining of the abdomen and pelvis.
Bastian, Boris C, Chen, Yunn-Yi, Garg, Karuna, Joseph, Nancy M, Nasr, Anthony, Onodera, Courtney, Rabban, Joseph T, Solomon, David A, Talevich, Eric, Yeh, Iwei, Zaloudek, Charles   +10 more
core   +2 more sources

Tightly linked markers for the neurofibromatosis type 1 gene

Genomics, 1987
Relationships among genetic markers in the region of the neurofibromatosis type 1 (NF1) gene on chromosome 17 were investigated by linkage studies in a large sample set of affected families and in a panel of 58 normal families. A new marker, pHHH202 (D17S33), was included along with two markers known to be closely linked to NF.
Ray White, Yusuke Nakamura, Peter O'Connell, Mark Leppert, Jean-Marc Lalouel, David Barker, David Goldgar, Mark Skolnick, John Carey, C.E. Wallis, C.P. Slater, Chris Mathew, Bruce Ponder   +12 more
openaire   +2 more sources

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

Pediatric Blood &Cancer, EarlyView.
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

Detection of malignant peripheral nerve sheath tumors in patients with neurofibromatosis using aneuploidy and mutation identification in plasma

eLife, 2022
Malignant peripheral nerve sheath tumors (MPNST) are the deadliest cancer that arises in individuals diagnosed with neurofibromatosis and account for nearly 5% of the 15,000 soft tissue sarcomas diagnosed in the United States each year.
Austin K Mattox, Christopher Douville, Natalie Silliman, Janine Ptak, Lisa Dobbyn, Joy Schaefer, Maria Popoli, Cherie Blair, Kathy Judge, Kai Pollard, Christine Pratilas, Jaishri Blakeley, Fausto Rodriguez, Nickolas Papadopoulos, Allan Belzberg, Chetan Bettegowda   +15 more
doaj   +1 more source

Organoids in pediatric cancer research

FEBS Letters, EarlyView.
Organoid technology has revolutionized cancer research, yet its application in pediatric oncology remains limited. Recent advances have enabled the development of pediatric tumor organoids, offering new insights into disease biology, treatment response, and interactions with the tumor microenvironment.
Carla Ríos Arceo, Jarno Drost
wiley   +1 more source

An Update on the Ophthalmologic Features in the Phakomatoses

Journal of Ophthalmology, 2016
Neurofibromatosis type 1, tuberous sclerosis complex, and Von Hippel-Lindau disease, historically classified as the phakomatoses, are hereditary multisystem disorders characterized by the presence of hamartoma, which carry the risk of malignant ...
Solmaz Abdolrahimzadeh, Andrea Maria Plateroti, Santi Maria Recupero, Alessandro Lambiase   +3 more
doaj   +1 more source

The emerging roles of ribosome biogenesis in craniofacial development. [PDF]

, 2014
Neural crest cells (NCCs) are a transient, migratory cell population, which originates during neurulation at the neural folds and contributes to the majority of tissues, including the mesenchymal structures of the craniofacial skeleton.
Ross, Adam P, Zarbalis, Konstantinos S
core   +2 more sources