Results 131 to 140 of about 25,034,870 (238)

Updated nomenclature for human and mouse neurofibromatosis type 1 genes [PDF]

, 2017
Anastasaki, Corina, Gutmann, David H, Kesterson, Robert A, Le, Lu Q   +3 more
core   +2 more sources

Ccl5 establishes an autocrine high-grade glioma growth regulatory circuit critical for mesenchymal glioblastoma survival [PDF]

, 2017
Gutmann, David H, Hambardzumyan, Dolores, Ma, Yu, Pan, Yuan, Smithson, Laura J   +4 more
core   +2 more sources

Neurofibromatosis Type 1: Ocular Electrophysiological and Perimetric Anomalies

Eye and Brain, 2020
Marcella Nebbioso,1,* Antonietta Moramarco,1,* Alessandro Lambiase,1 Sandra Giustini,2 Marco Marenco,1 Emanuele Miraglia,2 Pasquale Fino,2 Chiara Iacovino,2 Ludovico Alisi1 1Department of Sense Organs, Sapienza University of Rome, Rome, Italy ...
Nebbioso M, Moramarco A, Lambiase A, Giustini S, Marenco M, Miraglia E, Fino P, Iacovino C, Alisi L   +8 more
doaj  

KIR2DL5 mutation and loss underlies sporadic dermal neurofibroma pathogenesis and growth [PDF]

, 2017
Anastasaki, Corina, Dahiya, Sonika, Gutmann, David H   +2 more
core   +3 more sources

Macrocephaly in neurofibromatosis type 1: a sign post for optic pathway gliomas? [PDF]

, 2018
Purpose: Optic pathway gliomas, which occur in 15-20% of paediatric patients with neurofibromatosis type 1, are the most common central nervous system tumour associated with this neurocutaneous disorder.
Diepold, Miriam, Fleischhauer, Johannes, Goeggel Simonetti, Barbara, Nauer, Claude, Schindera, Christina, Steinlin, Maja, Wingeier, Kevin   +6 more
core  

Case Report: Trametinib in the treatment of patients with metastatic lung adenocarcinoma harboring NF1 mutation: a case series and literature review

Frontiers in Oncology
BackgroundThe neurofibromin 1 (NF1) protein regulates the downstream RAS/RAF/MEK/ERK pathway and functions as a tumor suppressor. Somatic pathogenic mutations in NF1 are found in approximately 4.7%–10% of NSCLC, with a higher frequency in lung ...
Floryane Kim, Maxime Borgeaud, Maxime Borgeaud, Claudio De Vito, Petros Tsantoulis, Petros Tsantoulis, Alfredo Addeo   +6 more
doaj   +1 more source

Neurofibromin 2 (NF2; Merlin); angiomotin (AMOT) [PDF]

Science-Business eXchange, 2011
openaire   +1 more source

Expanding a precision medicine platform for malignant peripheral nerve sheath tumors: New patient‐derived orthotopic xenografts, cell lines and tumor entities

Molecular Oncology
Malignant peripheral nerve sheath tumors (MPNSTs) are aggressive soft‐tissue sarcomas with a poor survival rate, presenting either sporadically or in the context of neurofibromatosis type 1 (NF1).
Edgar Creus‐Bachiller, Juana Fernández‐Rodríguez, Miriam Magallón‐Lorenz, Sara Ortega‐Bertran, Susana Navas‐Rutete, Cleofe Romagosa, Tulio M. Silva, Maria Pané, Anna Estival, Diana Perez Sidelnikova, Mireia Morell, Helena Mazuelas, Meritxell Carrió, Tereza Lausová, David Reuss, Bernat Gel, Alberto Villanueva, Eduard Serra, Conxi Lázaro   +18 more
doaj   +1 more source

Genomic Analysis of Non-NF2 Meningiomas Reveals Mutations in TRAF7, KLF4, AKT1, and SMO

Science, 2013
Victoria E. Clark, E. Erson-Omay, A. Serin, Jun Yin, Justin L. Cotney, K. Özduman, T. Avşar, Jie Li, Phillip B. Murray, O. Henegariu, S. Yilmaz, J. Günel, Geneive Carrión-Grant, Baran Yılmaz, C. Grady, Bahattin Tanrıkulu, M. Bakırcıoğlu, H. Kaymakçalan, A. Çağlayan, L. Sencar, E. Ceyhun, Atik Af, Yaşar Bayri, Hanwen Bai, L. Kolb, R. Hebert, S. Omay, Ketu Mishra-Gorur, Murim Choi, J. Overton, E. Holland, S. Mane, M. State, K. Bilguvar, J. Baehring, P. Gutin, J. Piepmeier, A. Vortmeyer, C. Brennan, M. Pamir, T. KiliÇ, R. Lifton, R. Lifton, J. Noonan, Katsuhito Yasuno, M. Gunel   +45 more
semanticscholar   +1 more source

A functional SNP upstream of the ADRB2 gene is associated with COPD

International Journal of COPD, 2018
Jin-Xiu Li,1,2,* Wei-Ping Fu,3,* Jing Zhang,4 Xiao-Hua Zhang,1,2 Chang Sun,1,5 Lu-Ming Dai,3 Li Zhong,1,5,6 Li Yu,1,2 Ya-Ping Zhang1,7 1State Key Laboratory for Conservation and Utilization of Bio-Resource in Yunnan, 2Key Laboratory for Animal Genetic ...
Li JX, Fu WP, Zhang J, Zhang XH, Sun C, Dai LM, Zhong L, Yu L, Zhang YP   +8 more
doaj