Results 101 to 110 of about 28,866 (196)

Nonsteroidal sulfamate derivatives as new therapeutic approaches for Neurofibromatosis 2 (NF2)

BMC Pharmacology and Toxicology, 2019
Background Neurofibromatosis 1 and 2, although involving two different tumour suppressor genes (neurofibromin and merlin, respectively), are both cancer predisposition syndromes that disproportionately affect cells of neural crest origin. New therapeutic
Yu-chi Shen, Caroline Arellano-Garcia, Rosa E. Menjivar, Ethan M. Jewett, Wolfgang Dohle, Sofiia Karchugina, Jonathan Chernoff, Barry V. L. Potter, Kate F. Barald   +8 more
doaj   +1 more source

Blue‐Gray Papules on the Chest and Face

JEADV Clinical Practice, Volume 5, Issue 1, Page 326-329, March 2026.
Sanjana Likki, Kevin Lee, Priyadharsini Nagarajan, Doina Ivan, Woo Cheal Cho, Fiorinda Muhaj   +5 more
wiley   +1 more source

Gene Therapy for Neurofibromatosis Type 2-Related Schwannomatosis: Recent Progress, Challenges, and Future Directions

Oncology and Therapy
Neurofibromatosis type 2 (NF2)-related schwannomatosis is a rare autosomal dominant monogenic disorder caused by mutations in the NF2 gene. The hallmarks of NF2-related schwannomatosis are bilateral vestibular schwannomas (VS).
Ruofei Yuan, Bo Wang, Ying Wang, Pinan Liu   +3 more
doaj   +1 more source

Characteristics of MicroRNA Expression Depending on the Presence or Absence of Meningioma in Patients with Neurofibromatosis Type 2: A Secondary Analysis

Neurologia Medico-Chirurgica
Meningioma is the second most frequent tumor in patients with neurofibromatosis type 2 (NF2). The presence of meningioma is believed to be a negative prognostic marker in these patients.
Takeshi IMURA, Takafumi MITSUHARA, Nobutaka HORIE   +2 more
doaj   +1 more source

Retinal Ischemia as a Presenting Ocular Sign of Neurofibromatosis Type 2

Case Reports in Ophthalmological Medicine
Purpose. Specific retinal abnormalities of neurofibromatosis type 2 (NF2) commonly include retinal astrocytoma and combined hamartoma of the retina and retinal pigment epithelium. Vasculopathy is an uncommon manifestation of NF2.
Binbin Zhao, Yan Yan
doaj   +1 more source

Microdeletion del(22)(q12.2) encompassing the facial development-associated gene, MN1 (meningioma 1) in a child with Pierre-Robin sequence (including cleft palate) and neurofibromatosis 2 (NF2): a case report and review of the literature

BMC Medical Genetics, 2012
Background Pierre-Robin sequence (PRS) is defined by micro- and/or retrognathia, glossoptosis and cleft soft palate, either caused by deformational defect or part of a malformation syndrome.
Davidson Tom B, Sanchez-Lara Pedro A, Randolph Linda M, Krieger Mark D, Wu Shi-Qi, Panigrahy Ashok, Shimada Hiroyuki, Erdreich-Epstein Anat   +7 more
doaj   +1 more source

Schwannomatosis of the Spinal Accessory Nerve: A Case Report. [PDF]

, 2019
Schwannomatosis is a distinct syndrome characterized by multiple peripheral nerve schwannomas that can be sporadic or familial in nature. Cases affecting the lower cranial nerves are infrequent.
Chin, Cynthia T, Jacques, Line, Lee, Anthony T, Lee, Young M, Morshed, Ramin A   +4 more
core  

Additional file 2 of Distinct genomic subclasses of high-grade/progressive meningiomas: NF2-associated, NF2-exclusive, and NF2-agnostic

, 2020
Additional file 2: Figure S1 shows the genome-wide copy-number alteration data of eligible cases. Loss of chromosome 22q (84.1%) and loss of chromosome 1p (68.8%) were the most common copy number alterations.
Williams, Erik A., Santagata, Sandro, Wakimoto, Hiroaki, Shankar, Ganesh M., Barker, Fred G., Radwa Sharaf, Abhinav Reddy, Spear, Phoebe, Alexander, Brian M., Ross, Jeffrey S., Brastianos, Priscilla K., Cahill, Daniel P., Ramkissoon, Shakti H., Juratli, Tareq A.   +13 more
openaire   +1 more source

The impact of mental health on health-related quality of life in patients with NF2-related Schwannomatosis

Scientific Reports
NF2-related schwannomatosis (NF2-SWN) is a rare genetic disorder and is associated with progressive morbidities. This study aimed to investigate the relationship between NF2-SWN disease severity, health-related Quality of Life (QoL), and mental health ...
Anna Freier, Anna C. Lawson McLean, Denise Loeschner, Steffen K. Rosahl, Johannes Kruse   +4 more
doaj   +1 more source

NF2: An underestimated player in cancer metabolic reprogramming and tumor immunity

npj Precision Oncology
Neurofibromatosis type 2 (NF2) is a tumor suppressor gene implicated in various tumors, including mesothelioma, schwannomas, and meningioma. As a member of the ezrin, radixin, and moesin (ERM) family of proteins, merlin, which is encoded by NF2 ...
Duo Xu, Shiyuan Yin, Yongqian Shu
doaj   +1 more source