Results 51 to 60 of about 34,178 (233)

Guanfacine treatment improves ADHD phenotypes of impulsivity and hyperactivity in a neurofibromatosis type 1 mouse model

Journal of Neurodevelopmental Disorders, 2020
Background Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder with a mutation in one copy of the neurofibromin gene (NF1 +/− ). Even though approximately 40–60% of children with NF1 meet the criteria for attention deficit hyperactivity ...
J. L. Lukkes, H. P. Drozd, S. D. Fitz, A. I. Molosh, D. W. Clapp, A. Shekhar   +5 more
doaj   +1 more source

Precision therapies for genetic epilepsies in 2025: Promises and pitfalls

Epilepsia Open, EarlyView.
Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang, Emilio Perucca, Samuel F. Berkovic, Piero Perucca   +3 more
wiley   +1 more source

Outlook for Neurofi bromatosis Type I Research in the Republic of Bashkortostan

Креативная хирургия и онкология, 2020
Neurofi bromatosis type I (NF1) is a common hereditary tumour syndrome with autosomal dominant type of inheritance. Average worldwide incidence rate of NF1 is 1:3000, equal in men and women.
R. N. Mustafin, E. K. Khusnutdinova
doaj   +1 more source

c-Fms signaling mediates neurofibromatosis Type-1 osteoclast gain-in-functions. [PDF]

PLoS ONE, 2012
Skeletal abnormalities including osteoporosis and osteopenia occur frequently in both pediatric and adult neurofibromatosis type 1 (NF1) patients. NF1 (Nf1) haploinsufficient osteoclasts and osteoclast progenitors derived from both NF1 patients and Nf1(+/
Yongzheng He, Steven D Rhodes, Shi Chen, Xiaohua Wu, Jin Yuan, Xianlin Yang, Li Jiang, Xianqi Li, Naoyuki Takahashi, Mingjiang Xu, Khalid S Mohammad, Theresa A Guise, Feng-Chun Yang   +12 more
doaj   +1 more source

Feasibility of using NF1-GRD and AAV for gene replacement therapy in NF1-associated tumors [PDF]

Gene Therapy, 2019
Neurofibromatosis type 1, including the highly aggressive malignant peripheral nerve sheath tumors (MPNSTs), is featured by the loss of functional neurofibromin 1 (NF1) protein resulting from genetic alterations. A major function of NF1 is suppressing Ras activities, which is conveyed by an intrinsic GTPase-activating protein-related domain (GRD).
Bai, Ren-Yuan, Esposito, Dominic, Tam, Ada J., McCormick, Frank, Riggins, Gregory J., Clapp, D. Wade, Staedtke, Verena   +6 more
openaire   +4 more sources

Fluorene‐based blue emitters: On the path to electrically pumped organic lasers

FlexMat, EarlyView.
Electrically pumped efficient operation remains unrealized, a major challenge in optoelectronics. Fluorene‐based blue‐emitting semiconductors are promising gain media, thanks to their structural tunability and favorable emission properties. This review summarizes recent advances, highlights their reliability and versatility in lasing, and outlines key ...
Yong Yan, Hao Li, Mengna Yu, Huiyin Wang, Jiangqiang He, Menghan Wu, Quanyou Feng, Linghai Xie   +7 more
wiley   +1 more source

Enriched expression of NF1 in inhibitory neurons in both mouse and human brain

Molecular Brain, 2019
Neurofibromatosis type 1 (NF1) is an autosomal dominant disease caused by loss-of-function mutations in NF1 gene, which encodes a GTPase activating protein for RAS.
Hyun-Hee Ryu, Minkyung Kang, Jinsil Park, Sung-Hye Park, Yong-Seok Lee   +4 more
doaj   +1 more source

Gene signatures characterizing driver mutations in lung squamous carcinoma are predictive of the progression of pre‐cancer lesions

International Journal of Cancer, EarlyView.
What's New? Lung squamous cell carcinoma (LUSC) is more aggressive than lung adenocarcinoma, and is most often diagnosed at an advanced stage. Here, the authors evaluated gene expression data from LUSC tumors and came up with gene signatures for 34 genetic abnormalities whose expression changes throughout different precancerous stages. Several of these
Yupei Lin, Venugopalareddy Mekala, Jianrong Li, Xiang Wang, Muhammad Aminu, Jia Wu, Jianjun Zhang, Robert Taylor Ripley, Christopher I. Amos, Chao Cheng   +9 more
wiley   +1 more source

Loss of GTPase activating protein neurofibromin stimulates paracrine cell communication via macropinocytosis

Redox Biology, 2019
Neurofibromin, the protein product of the neurofibromatosis type 1 (NF1) tumor suppressor gene, is a negative regulator of Ras signaling. Patients with mutations in NF1 have a strong predisposition for cardiovascular disease, which contributes to their ...
Pushpankur Ghoshal, Bhupesh Singla, Huiping Lin, Mary Cherian-Shaw, Rebekah Tritz, Caleb A. Padgett, Farlyn Hudson, Hanfang Zhang, Brian K. Stansfield, Gábor Csányi   +9 more
doaj   +1 more source

Clinical Implementation and Oncological Relevance of Molecular Profiling in Brain Metastases Patients—A Multicenter Retrospective Cohort Study

International Journal of Cancer, EarlyView.
While current guidelines recommend the analysis of established cancer driver genes in brain metastases, little is known about its real‐life implementation. This multicenter study revealed an upward trend in the profiling rates of surgically treated brain metastases over the past decade, with up to 60% of brain metastases samples undergoing analysis ...
Maria Nikolaeva, Jacopo Bellomo, Meltem Gönel, Vittorio Stumpo, Victor Egon Staartjes, Flavio Vasella, Kevin Akeret, André Sagerer, Anna Maria Zeitlberger, David Wasilewski, Christopher Krämer, Sven König, Julia Onken, Tareq Juratli, Alexander Köpp, Regina Reimann, Marcus Czabanka, Peter Vajkoczy, Ilker Y. Eyüpoglu, Oliver Bozinov, Michael Weller, Emilie Le Rhun, Luca Regli, Carlo Serra, Marian C. Neidert, Stefanos Voglis   +25 more
wiley   +1 more source