Somatic mosaicism and neurodevelopmental disease

AM D'Gama, CA Walsh - Nature neuroscience, 2018 - nature.com
Traditionally, we have considered genetic mutations that cause neurodevelopmental
diseases to be inherited or de novo germline mutations. Recently, we have come to …

An update on the CNS manifestations of neurofibromatosis type 2

S Coy, R Rashid, A Stemmer-Rachamimov… - Acta …, 2020 - Springer
Neurofibromatosis type II (NF2) is a tumor predisposition syndrome characterized by the
development of distinctive nervous system lesions. NF2 results from loss-of-function …

The genetic landscape and possible therapeutics of neurofibromatosis type 2

MA Ghalavand, A Asghari, M Farhadi… - Cancer Cell …, 2023 - Springer
Abstract Neurofibromatosis type 2 (NF2) is a genetic condition marked by the development
of multiple benign tumors in the nervous system. The most common tumors associated with …

New developments in neurofibromatosis type 2 and vestibular schwannoma

Y Ren, DA Chari, S Vasilijic, DB Welling… - Neuro-Oncology …, 2021 - academic.oup.com
Abstract Neurofibromatosis type 2 (NF2) is a rare autosomal dominant disorder
characterized by the development of multiple nervous system tumors due to mutation in the …

Genotype-phenotype correlations in neurofibromatosis and their potential clinical use

C Bettegowda, M Upadhayaya, DG Evans, AR Kim… - Neurology, 2021 - AAN Enterprises
Objective Because clinically validated biomarkers for neurofibromatosis 1 (NF1) and
neurofibromatosis 2 (NF2) have not been identified, we aimed to determine whether …

Towards molecular classification of meningioma: evolving treatment and diagnostic paradigms

DT Proctor, S Ramachandran, S Lama… - World neurosurgery, 2018 - Elsevier
Highlights•WHO grading of meningioma may not reflect tumor biology.•Molecular
characterization of meningioma may more closely correlate to tumor biology.•Genetic …

Transcriptomic and epigenetic dissection of spinal ependymoma (SP-EPN) identifies clinically relevant subtypes enriched for tumors with and without NF2 mutation

S Neyazi, E Yamazawa, K Hack, S Tanaka… - Acta …, 2024 - Springer
Ependymomas encompass multiple clinically relevant tumor types based on localization and
molecular profiles. Tumors of the methylation class “spinal ependymoma”(SP-EPN) …

Updated protocol for genetic testing, screening and clinical management of individuals at risk of NF2‐related schwannomatosis

D Halliday, B Emmanouil, DGR Evans - Clinical Genetics, 2023 - Wiley Online Library
Genetic testing and management of individuals at risk for NF2‐related schwannomatosis is
complicated by the high rate of mosaicism resulting in a milder, later onset, more …

Biomarkers in vestibular schwannoma–associated hearing loss

L Lassaletta, M Calvino, JM Morales-Puebla… - Frontiers in …, 2019 - frontiersin.org
Vestibular schwannomas (VSs) are benign tumors composed of differentiated neoplastic
Schwann cells. They can be classified into two groups: sporadic VS and those associated …

The SWI/SNF complex in neural crest cell development and disease

DM Fountain, T Sauka-Spengler - Annual Review of Genomics …, 2023 - annualreviews.org
While the neural crest cell population gives rise to an extraordinary array of derivatives,
including elements of the craniofacial skeleton, skin pigmentation, and peripheral nervous …