Results 61 to 70 of about 33,733 (216)

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

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

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

MEK inhibition exerts temporal and myeloid cell-specific effects in the pathogenesis of neurofibromatosis type 1 arteriopathy

Scientific Reports, 2021
Mutations in the NF1 tumor suppressor gene are linked to arteriopathy. Nf1 heterozygosity (Nf1+/–) results in robust neointima formation, similar to humans, and myeloid-restricted Nf1+/– recapitulates this phenotype via MEK-ERK activation. Here we define
Rebekah Tritz, Farlyn Z. Hudson, Valerie Harris, Pushpankur Ghoshal, Bhupesh Singla, Huiping Lin, Gabor Csanyi, Brian K. Stansfield   +7 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

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

Advances and challenges in the treatment of neurofibromatosis type 1 related plexiform neurofibromatosis in the head and neck [PDF]

口腔疾病防治
Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disorder caused by mutations in the NF1 gene located at 17q11.2. Plexiform neurofibromas (PN) are one of the common clinical manifestations of NF1, known as NF1-related plexiform ...
CHEN Weiliang
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

Optical Genome Mapping Reveals Frequent Cryptic Structural Aberrations in Normal Karyotype Acute Myeloid Leukemia

International Journal of Cancer, EarlyView.
Acute myeloid leukemia adult cases often appear cytogenetically normal when analyzed with conventional karyotyping. However, acquired structural variants may escape routine detection. Here, optical genome mapping detected diverse genomic alterations in nearly half of the analyzed cytogenetically normal cases.
Tuuni Turtinen, Andriana Valkama, Christopher Wray, Sandra Vorimo, Hannele Räsänen, Eeva‐Riitta Savolainen, Katri Pylkäs, Tuomo Mantere   +7 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