Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Germline SMARCE1 mutations predispose to both spinal and cranial clear cell meningiomas.

The Journal of pathology - 1 Dec 2014

Smith Miriam J, Wallace Andrew J, Bennett Chris, Hasselblatt Martin, Elert-Dobkowska Ewelina, Evans Linton T, Hickey William F, van Hoff Jack, Bauer David, Lee Amy, Hevner Robert F, Beetz Christian, du Plessis Daniel, Kilday John-Paul, Newman William G, Evans D Gareth

Abstract excerpt

We recently reported SMARCE1 mutations as a cause of spinal clear cell meningiomas. Here, we have identified five further cases with non-NF2 spinal meningiomas and six with non-NF2 cranial meningiomas. Three of the spinal cases and three of the cranial cases were clear cell tumours. We screened them for SMARCE1 mutations and investigated copy number changes in all point mutation-negative samples. We identified...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Brain Neoplasms
Share to Chromosomal Proteins, Non-Histone

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA-Binding Proteins

Share to Gene Dosage

Share to Germ-Line Mutation

Share to Immunohistochemistry

Share to Meningeal Neoplasms

Share to Meningioma

Source

Identifiers

PMID: 25143307
DOI: 10.1002/path.4427

Genes

SMARCE1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Germline SMARCE1 mutations predispose to both spinal and cranial clear cell meningiomas.PMID 25143307Read ↗

Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomas.Semantic proximity Read ↗

SMARCE 1 mutation screening in classification of clear cell meningiomasSemantic proximity Read ↗

SMARCE1 mutations in pediatric clear cell meningioma: case report.Semantic proximity Read ↗

The importance of genetic counseling and screening for people with pathogenic SMARCE1 variants: A family study.Semantic proximity Read ↗

Clear cell meningiomas are defined by a highly distinct DNA methylation profile and mutations in SMARCE1.Semantic proximity Read ↗

Loss of SMARCE1 expression is a specific diagnostic marker of clear cell meningioma: a comprehensive immunophenotypical and molecular analysis.Semantic proximity Read ↗

A heritable form of SMARCE1-related meningiomas with important implications for follow-up and family screeningSemantic proximity Read ↗

Pediatric intracranial clear cell meningioma associated with a germline mutation of SMARCE1: a novel caseSemantic proximity Read ↗

Pediatric clear cell meningioma involving the middle cranial fossa in the context of NF2 and SMARCE1 mutations.Semantic proximity Read ↗

Germline and somatic mutations in meningiomas.Semantic proximity Read ↗

Familial Syndromes Involving Meningiomas Provide Mechanistic Insight Into Sporadic Disease.Semantic proximity Read ↗

Germline SMARCB1 mutation predisposes to multiple meningiomas and schwannomas with preferential location of cranial meningiomas at the falx cerebri.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.