Associated Papers
A Carboxy-terminal Smarcb1 Point Mutation Induces Hydrocephalus Formation and Affects AP-1 and Neuronal Signalling Pathways in Mice.
Brugmans AK et al.
Cellular and Molecular Neurobiology, 2023
37219662 (PubMed )
Supplement: 10571_2023_1361_MOESM2_ESM.xlsx › COSMIC_Cancer_all_mutations
WP1066 induces cell death in a schwannomatosis patient-derived schwannoma cell line.
Allaf A et al.
Cold Spring Harbor Molecular Case Studies, 2022
A recurrent de novo missense pathogenic variant in SMARCB1 causes severe intellectual disability and choroid plexus hyperplasia with resultant hydrocephalus.
Diets IJ et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Germline variants in SMARCB1 and other members of the BAF chromatin-remodeling complex across human disease entities: a meta-analysis.
Holsten T et al.
European Journal of Human Genetics : Ejhg, 2018
The molecular pathogenesis of schwannomatosis, a paradigm for the co-involvement of multiple tumour suppressor genes in tumorigenesis.
Kehrer-Sawatzki H et al.
Human Genetics, 2017
27921248 (PubMed )
Supplement: 439_2016_1753_MOESM1_ESM.doc
SMARCB1/INI1 Involvement in Pediatric Chordoma: A Mutational and Immunohistochemical Analysis.
Antonelli M et al.
The American Journal of Surgical Pathology, 2017
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
Expression of SMARCB1 (INI1) mutations in familial schwannomatosis.
Smith MJ et al.
Human Molecular Genetics, 2012
Alterations in the SMARCB1 (INI1) tumor suppressor gene in familial schwannomatosis.
Boyd C et al.
Clinical Genetics, 2008
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