Results 121 to 130 of about 25,034,870 (238)

Nf1 haploinsufficiency alters myeloid lineage commitment and function, leading to deranged skeletal homeostasis [PDF]

, 2015
Although nullizygous loss of NF1 leads to myeloid malignancies, haploinsufficient loss of NF1 (Nf1) has been shown to contribute to osteopenia and osteoporosis which occurs in approximately 50% of neurofibromatosis type 1 (NF1) patients.
Chen, Shi, Dong, Ruizhi, He, Yongzheng, Jiang, Li, Li, Zhaomin, Menon, Keshav, Rhodes, Steven D., Staser, Karl W., Yang, Hao   +8 more
core   +1 more source

Exhaustive non-synonymous variants functionality prediction enables high resolution characterization of the neurofibromin architectureResearch in context

EBioMedicine, 2018
Background: Neurofibromatosis type I (NF1) is caused by heterozygous loss-of-function variants in the NF1 gene encoding neurofibromin which serves as a tumor suppressor that inhibits RAS signaling and regulates cell proliferation and differentiation ...
Ofer Isakov, Deeann Wallis, D. Gareth Evans, Shay Ben-Shachar   +3 more
doaj   +1 more source

Preclinical Evidence for the Use of Sunitinib Malate in the Treatment of Plexiform Neurofibromas [PDF]

, 2015
Plexiform neurofibromas (pNF) are pathognomonic nerve and soft tissue tumors of neurofibromatosis type I (NF1), which are highly resistant to conventional chemotherapy and associated with significant morbidity/mortality.
Chen, Shi, Clapp, D. Wade, Ferguson, Michael J., Hutchins, Gary, Ingram, David A., Jiang, Li, Li, Xiaohong, Rhodes, Steven D., Territo, Paul, Vakili, Saeed T., Yang, Feng-Chun, Yang, Xianlin, Yuan, Jin, Zhang, Shaobo   +13 more
core   +1 more source

NF2 regulates IP3R‐mediated Ca2+ signal and apoptosis in meningiomas

The FASEB Journal
Meningiomas are the most common primary intracranial tumors and account for nearly 30% of all nervous system tumors. Approximately half of meningioma patients exhibit neurofibromin 2 (NF2) gene inactivation.
Zhaoying Lei, Jie Niu, Huajian Cai, Zhengyi Kong, Xue Ding, Yufei Dong, Dong Zhang, Xu Li, Jianzhong Shao, Aifu Lin, Ruhong Zhou, Shuxu Yang, Qingfeng Yan   +12 more
semanticscholar   +1 more source

Reproducibility of cognitive endpoints in clinical trials: Lessons from neurofibromatosis type 1 [PDF]

, 2019
OBJECTIVE: Rapid developments in understanding the molecular mechanisms underlying cognitive deficits in neurodevelopmental disorders have increased expectations for targeted, mechanism-based treatments.
et al,, Gutmann, David H, Payne, Jonathan M   +2 more
core   +1 more source

Generation of a zebrafish neurofibromatosis model via inducible knockout of nf2

bioRxiv
Neurofibromatosis Type 2 (NF-2) is a dominantly inherited genetic disorder that results from mutations in the tumor suppressor gene, neurofibromin 2 (NF2) gene.
Ayyappa Raja Desingu Rajan, Yuanyun Huang, J. Stundl, Katelyn Chu, Anushka Irodi, Zihan Yang, Brian E. Applegate, Marianne E. Bronner   +7 more
semanticscholar   +1 more source

Targeting meningiomas: advances in molecular pathways, drug repurposing, and precision therapy

Beni-Suef University Journal of Basic and Applied Sciences
Background Meningiomas are the most common primary intracranial tumors in adults, accounting for more than one-third of brain neoplasms. Most are slow-growing, but higher-grade subtypes (WHO grades II–III) often recur, invade surrounding structures, and ...
Mohammed A. Abdel-Rasol, Wael M. El-Sayed   +1 more
doaj   +1 more source

Investigating cochlear cellular dynamics in neurofibromatosis type 2-associated schwannomatosis: a histopathological study

Frontiers in Neurology
Sensorineural hearing loss (SNHL) is a hallmark symptom in patients with neurofibromatosis type 2-associated schwannomatosis (NF2-SWN), a genetic condition caused by mutations in the Neurofibromin II gene that encodes the tumor suppressor protein Moesin ...
Reef K. Al-Asad, Reef K. Al-Asad, Drew J. Montigny, Drew J. Montigny, Jennifer T. O’Malley, D. Bradley Welling, David H. Jung, David H. Jung, Andreas H. Eckhard, Judith S. Kempfle, Judith S. Kempfle, Judith S. Kempfle, Judith S. Kempfle   +12 more
doaj   +1 more source

Additional file 2: Table S2. of Somatic loss of function mutations in neurofibromin 1 and MYC associated factor X genes identified by exome-wide sequencing in a wild-type GIST case

, 2015
Characteristics of MAX-negative and MAX-positive GIST cases. Selected molecular, demographic, and clinical characteristics of GIST sample sets stratified by MAX immunohistochemical expression. (DOC 60 kb)
Belinsky, Martin, Rink, Lori, Cai, Kathy, Capuzzi, Stephen, Hoang, Yen, Chien, Jeremy, Godwin, Andrew, Mehren, Margaret   +7 more
openaire   +1 more source

Nf2/FGFR1/AKT axis directs cranial neural crest–derived skull morphogenesis via collagen synthesis and trafficking

JCI Insight
Cranial neural crest cells (CNCs) play a critical role in craniofacial bone morphogenesis, engaging in intricate interactions with various molecular signals to ensure proper development, yet the molecular scaffolds coordinating these processes remain ...
Yuping Huang, Junguang Liao, Panpan Shen, Yiliang He, Fuju Sun, Qi Zhang, Changlin Zheng, Xingen Zhang, Haibo Li, Guiqian Chen   +9 more
doaj   +1 more source