Results 51 to 60 of about 4,213 (222)

Focused ultrasound-mediated drug delivery of bevacizumab in treating NF2-related schwannomatosis in an animal model. [PDF]

Sci Rep
Neurofibromatosis type 2 (NF2)-related schwannomatosis is an autosomal dominant genetic disorder characterized by the development of cranial and peripheral nerve schwannomas, including bilateral vestibular schwannomas which are associated with ...
Spiegel JL, De Maio A, Patel MV, Ungar OJ, Lai C, Truong T, Situ Y, Clapp DW, Conway SJ, Chen JM, Lin VYW, Hynynen K, O'Reilly MA, Le TN.   +13 more
europepmc   +2 more sources

Architecture of the chromatin remodeler RSC and insights into its nucleosome engagement. [PDF]

, 2019
Eukaryotic DNA is packaged into nucleosome arrays, which are repositioned by chromatin remodeling complexes to control DNA accessibility. The Saccharomyces cerevisiae RSC (Remodeling the Structure of Chromatin) complex, a member of the SWI/SNF chromatin ...
Afonine, Afonine, Allen, Angus-Hill, Ashkenazy, Ashkenazy, Asturias, Badis, Buchan, Buchan, Cairns, Cairns, Campsteijn, Chaban, Chambers, Chatterjee, Clapier, Clapier, Côté, Da, Dechassa, Duan, Dutta, Dürr, El-Gebali, Emsley, Erkina, Filippakopoulos, Goddard, Han, Jones, Jones, Kadoch, Kasten, Klein-Brill, Krietenstein, Kuryan, Leschziner, Leschziner, Li, Liu, Lopéz-Blanco, Mashtalir, Morin, Nagai, Nakane, Ng, Patel, Pettersen, Puig, Saha, Sammak, Schorb, Schubert, Sen, Shim, Sievers, Skiniotis, Smith, Suloway, Söding, Tan, Tsunaka, Ungar, Valencia, Wagner, Wang, Wilson, Xia, Yan, Yang, Ye, Yen, Zhang, Zhang, Zhang, Zheng, Zivanov, Zivanov, Zukin   +79 more
core   +3 more sources

Left atrial schwannoma in schwannomatosis: a case report

Surgical Case Reports, 2021
Background Primary cardiac schwannoma in the left atrium and schwannomatosis are rare diseases. Case presentation We report the case of a 46-year-old asymptomatic man who had tumor resection for parapharyngeal schwannoma at another institute 1 year ago ...
Kenji Yokoyama, Tomoya Yoshizaki, Dai Tasaki   +2 more
doaj   +1 more source

Cerebral cavernous malformations associated to meningioma: High penetrance in a novel family mutated in the PDCD10 gene [PDF]

, 2015
Multiple familial meningiomas occur in rare genetic syndromes, particularly neurofibromatosis type 2. The association of meningiomas and cerebral cavernous malformations (CCMs) has been reported in few patients in the medical literature.
Al-Shahi Salman R, Batra S, de Champfleur NM, DeAngelis LM, Haasdijk RA, Labauge P, Lehnhardt FG, Marosi C, Riant F, Riemenschneider MJ, Schröder W, Shen Y, Spiegler S, Whittle IR, Zabramski JM   +14 more
core   +1 more source

Schwannoma of the external auditory canal as a part of schwannomatosis

Acta Oto-Laryngologica Case Reports, 2019
We experienced a very rare case, which we believe to be sporadic schwannomatosis, in which a 49-year-old female patient presented with conductive hearing loss due to a subcutaneous tumor in the right external auditory canal and the symptoms were ...
Saeko Matsuzaki, Naoki Oishi, Satoko Wakabayashi, Kaoru Ogawa   +3 more
doaj   +1 more source

Whole-body imaging in schwannomatosis [PDF]

Neurology, 2011
A 23-year-old man with schwannomatosis1 was imaged with whole-body MRI and 18F FDG-PET to assess the extent of disease prior to initiating systemic therapy for new and growing tumors. The patient had undergone multiple prior resections of schwannomas from peripheral nerves. …
Avneesh, Chhabra, Jaishri, Blakely
openaire   +2 more sources

WWC proteins–mediated compensatory mechanism restricts schwannomatosis driven by NF2 loss of function

Science Advances
NF2-related schwannomatosis, previously known as neurofibromatosis type 2, is a genetic disorder characterized by nerve tumors due to NF2 gene mutations.
Xueying Wang, Rui Zhu, Pengcheng Yu, Sixian Qi, Zhenxing Zhong, Ruxin Jin, Yu Wang, Yuan Gu, Dan Ye, Kang Chen, Yilai Shu, Yi Wang, Fa-Xing Yu   +12 more
semanticscholar   +1 more source

MUTATIONS OF THE SMARCB1 GENE IN HUMAN CANCERS

Alʹmanah Kliničeskoj Mediciny, 2017
In the recent years, the full exome sequencing helped to reveal a  set of mutations in the genes that are not oncogenes or tumor suppressor genes by definition, but play an important role in carcinogenesis and encode proteins involved in chromatin ...
D. S. Mikhaylenko, M. V. Teleshova, G. D. Efremov, B. Y. Alekseev   +3 more
doaj   +1 more source

Genotyping Cancer-Associated Genes in Chordoma Identifies Mutations in Oncogenes and Areas of Chromosomal Loss Involving CDKN2A, PTEN, and SMARCB1 [PDF]

, 2014
The molecular mechanisms underlying chordoma pathogenesis are unknown. We therefore sought to identify novel mutations to better understand chordoma biology and to potentially identify therapeutic targets.
Choy, Edwin, Cote, Gregory M., Duan, Zhenfeng, Garraway, Levi A., Hornicek, Francis J., Iafrate, Anthony J., Le, Long P., MacConaill, Laura E., Nielsen, Gunnlaugur P., Shen, Jacson K.   +9 more
core   +3 more sources

Spatial mapping of immune cell environments in NF2-related schwannomatosis vestibular schwannoma

Nature Communications
NF2-related Schwannomatosis (NF2 SWN) is a rare disease characterised by the growth of multiple nervous system neoplasms, including bilateral vestibular schwannoma (VS). VS tumours are characterised by extensive leucocyte infiltration.
Adam P. Jones, Michael J Haley, Miriam H Meadows, Grace E. Gregory, C. Hannan, Ana K Simmons, Leoma D. Bere, Daniel Lewis, Pedro Oliveira, Miriam J. Smith, Andrew T King, D. G. Evans, P. Paszek, David Brough, Omar N. Pathmanaban, Kevin N. Couper   +15 more
semanticscholar   +1 more source