Results 91 to 100 of about 3,249 (205)

NF2 is Essential for Human Endoderm Development

Advanced Science, Volume 12, Issue 17, May 8, 2025.
This study demonstrates that NF2, moesin‐ezrin‐radixin like (MERLIN) tumor suppressor (NF2) is essential for human endoderm formation. NF2 knockout human induced pluripotent stem cells fail to form endoderm both in vitro and in vivo due to yes‐associated protein 1 (YAP1) nuclear translocation, redirecting differentiation toward myofibroblast‐like cells.
Minjin Jeong, Dongjun Han, Preetida Bhetariya, D. Bradley Welling, Miodrag Stojkovic, Konstantina M. Stankovic   +5 more
wiley   +1 more source

A possible cause of misdiagnosis in tumors of the axilla: schwannoma of the brachial plexus [PDF]

, 2008
The Authors report a rare case of a 57 years old man affected by a left radial nerve schwannoma that occurred as an asymptomatic lesion of the axilla. At clinical examination the lump was undistinguishable from the most common axillary lymphadenopathy. A
Briganti M, Ceci F, Cipriani B, De Angelis F, DERIU, GLORIA, Di Filippo A, Martellucci A, Nicodemi S, Picchio M, SPAZIANI, Erasmo, Stagnitti F., VITOLO, Domenico   +11 more
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Schwannomatosis [PDF]

Neurology, 2008
Alexey, Surov, Malte, Kornhuber, Curd, Behrmann   +2 more
openaire   +2 more sources

Functional regulation of the Neurofibromatosis 2 tumor suppressor merlin [PDF]

, 2011
Neurofibromatosis 2 (NF2) is an autosomal dominant disorder manifested by the formation of multiple benign tumors of the nervous system. Affected individuals typically develop bilateral vestibular schwannomas which lead to deafness and balance disorders.
Pehrsson, Minja
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SMARCA4-Associated Schwannomatosis

, 2022
Abstract Background Schwannomatosis is a disorder characterized by a predisposition to multiple benign spinal, peripheral and intracranial nerve sheath tumors (schwannomas (SWNs)). The molecular mechanism of schwannomatosis involves several genes located on chromosome 22q, SMARCB1, LZTR1, NF2 and more recently, DGCR8. Case Presentation: here,
Fiona Chan-Pak-Choon, Carla Roca, Anne-Sophie Chong, Clara Nogué, Sonja Dahlum, Rachel Austin, Helen Mar Fan, Thomas Robertson, Karin van Spaendonck-Zwarts, Reiner Siebert, Barbara Rivera, William D. Foulkes   +11 more
openaire   +1 more source

Evaluation of the role of downregulation of SNF5/INI1 core subunit of SWI/SNF complex in clear cell renal cell carcinoma development [PDF]

, 2017
Clear cell renal cell carcinoma (ccRCC) is characterized by stabilization of hypoxia-inducible factor (HIF1), and mutations in von Hippel-Lindau (VHL) gene.
Chrzan, A., Cwiek, P., Demkow, T., Galek, L., Jancewicz, I., Leszczynski, M., Ligaj, M., Maassen, Anna, Rusetska, N., Sarnowska, E.A., Sarnowski, T.J., Siedlecki, J.A., Skrodzka, M., Stachowiak, M., Steciuk, J., Szarkowska, J., Szymanski, M.   +16 more
core  

18F-FDG PET/CT revealed sporadic schwannomatosis involving the lumbar spinal canal and both lower limbs: a case report

Frontiers in Medicine
Schwannomatosis is a rare autosomal dominant hereditary syndrome disease characterized by multiple schwannomas throughout the body, without bilateral vestibular schwannoma or dermal schwannoma.
Xiaotian Li, Xiaotian Li, Xianwen Hu, Pan Wang, Jiong Cai   +4 more
doaj   +1 more source

Typical NF2 and LTZR1 mutations are retained in an immortalized human schwann cell model of schwannomatosis [PDF]

Human SCs play a primary role in SWN, a rare genetic disorder in which patients develop multiple schwannomas. So that, their isolation and immortalization could represent an irreplaceable tool to investigate the disease etiopathology. Although few clones
Montini, Marco, Papi, Laura
core   +5 more sources

Increasing access to specialty care for rare diseases: a case study using a foundation sponsored clinic network for patients with neurofibromatosis 1, neurofibromatosis 2, and schwannomatosis

BMC Health Services Research, 2018
Background Our primary aim was to assess the ability of a non-profit foundation-sponsored clinic network to facilitate access to specialized care for patients with neurofibromatoses (NF), a group of neurogenetic disorders including NF1, NF2, and ...
Vanessa L. Merker, Annie Dai, Heather B. Radtke, Pamela Knight, Justin T. Jordan, Scott R. Plotkin   +5 more
doaj   +1 more source

KNOWLEDGE AND SELF-ESTEEM IN INDIVIDUALS WITH NEUROFIBROMATOSIS TYPE 1 (NF1) [PDF]

, 2015
Neurofibromatosis Type 1 (NF1) is a progressive genetic disorder characterized mainly by café-au-lait macules, Lisch nodules, as well as cutaneous and subcutaneous neurofibromas among other traits.
Vaughn, Kayla
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