Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomas (Q45167839)

10 December 2017

Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomas (English)

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Diana Eccles

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Miriam J Smith

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Kristen D Hadfield

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Daniel du Plessis

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James O'Sullivan

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Sanjeev S Bhaskar

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Gemma Poke

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John Caird

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Saba Sharif

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Daniel Rawluk

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10 December 2017

language of work or name

English

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publication date

3 February 2013

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45

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295-298

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https://scigraph.springernature.com/pub.10.1038/ng.2552

10 December 2017

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cites work

Epidemiology and etiology of intracranial meningiomas: a review

1 reference

Cranial meningiomas in 411 neurofibromatosis type 2 (NF2) patients with proven gene mutations: clear positional effect of mutations, but absence of female severity effect on age at onset.

21 January 2018

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Multiple meningiomas: differential involvement of the NF2 gene in children and adults

21 January 2018

1 reference

Germline SMARCB1 mutation and somatic NF2 mutations in familial multiple meningiomas

21 January 2018

1 reference

Germline SMARCB1 mutation predisposes to multiple meningiomas and schwannomas with preferential location of cranial meningiomas at the falx cerebri

21 January 2018

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Molecular heterogeneity of meningioma with INI1 mutation

21 January 2018

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INI1 mutations in meningiomas at a potential hotspot in exon 9

21 January 2018

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SMARCB1 mutations are not a common cause of multiple meningiomas

21 January 2018

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Genomic profiling distinguishes familial multiple and sporadic multiple meningiomas

21 January 2018

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Common variation at 10p12.31 near MLLT10 influences meningioma risk

21 January 2018

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Reciprocal regulation of CD4/CD8 expression by SWI/SNF-like BAF complexes

21 January 2018

1 reference

Mismatch repair genes hMLH1 and hMSH2 and colorectal cancer: a HuGE review

21 January 2018

1 reference

Architectural DNA binding by a high-mobility-group/kinesin-like subunit in mammalian SWI/SNF-related complexes

21 January 2018

1 reference

N-terminally truncated BAF57 isoforms contribute to the diversity of SWI/SNF complexes in neurons

21 January 2018

1 reference

The BRG1- and hBRM-associated factor BAF57 induces apoptosis by stimulating expression of the cylindromatosis tumor suppressor gene

21 January 2018

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The SWI/SNF chromatin remodeling subunit BAF57 is a critical regulator of estrogen receptor function in breast cancer cells

21 January 2018

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Targeting of SWI/SNF chromatin remodelling complexes to estrogen-responsive genes

21 January 2018

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Identification of BAF57 mutations in human breast cancer cell lines

21 January 2018

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Highly parallel identification of essential genes in cancer cells

21 January 2018

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Identification and characterization of novel potentially oncogenic mutations in the human BAF57 gene in a breast cancer patient.

21 January 2018

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Loss of the tumor suppressor Snf5 leads to aberrant activation of the Hedgehog-Gli pathway.

21 January 2018

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Loss of SUFU function in familial multiple meningioma.

21 January 2018

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ARID1A mutations in endometriosis-associated ovarian carcinomas

21 January 2018

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Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma

21 January 2018

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Frequent mutations of chromatin remodeling gene ARID1A in ovarian clear cell carcinoma

21 January 2018

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Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome

21 January 2018

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Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome

21 January 2018

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Schwannomatosis associated with multiple meningiomas due to a familial SMARCB1 mutation

21 January 2018

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Evidence for the complete inactivation of the NF2 gene in the majority of sporadic meningiomas

21 January 2018

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Incidence and clinical features of asymptomatic meningiomas

21 January 2018

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PubMed

https://pubmed.ncbi.nlm.nih.gov/23377182

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Familial risks in nervous system tumors.

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23377182

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Population-based analysis of sporadic and type 2 neurofibromatosis-associated meningiomas and schwannomas

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23377182

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/NG.2552

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Dimensions Publication ID

10 December 2017

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