WebThe SMARCB1 gene provides instructions for making a protein that forms one piece (subunit) of several different protein groupings called SWI/SNF protein complexes. … SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1 is a protein that in humans is encoded by the SMARCE1 gene.

A heritable form of SMARCE1-related meningiomas with …

WebNov 1, 2024 · A United Kingdom case series has described familial CCM with germline SMARCE1 mutation in 14% cases of solitary meningioma. They have identified cases of multiple spinal CCM, with the presence of somatic SMARCE1 mutation, as well as germline SMARCE1 mutation in 4 of the 9 families studied . The UK group also reported a case of … WebSMARCE1 mutation screening in classification of clear cell meningiomas. These results expand the spectrum of pathogenic variants in SMARCE1 and show that mutation … ipshorisoes

High expression of SMARCE1 predicts poor prognosis and promotes …

WebTargeted DNA sequencing revealed SMARCE1 mutations in 33/34 analyzed samples, accompanied by a nuclear loss of expression determined via immunohistochemistry and a decreased SMARCE1 transcript expression in the tumor cells. Analysis of time to progression or recurrence of patients within the clear cell meningioma group (n = 14) in … WebThe canonical complex contains a catalytic subunit (either SMARCA4/BRG1/BAF190A or SMARCA2/BRM/BAF190B), and at least SMARCE1, ACTL6A/BAF53, SMARCC1/BAF155, SMARCC2/BAF170, and SMARCB1/SNF5/BAF47. Other subunits specific to each of the complexes may also be present permitting several possible combinations … WebMay 4, 2016 · Coffin-Siris Syndrome 5. In a Japanese patient with Coffin-Siris syndrome-5 (CSS5; 616938), Tsurusaki et al. (2012) identified a de novo heterozygous missense mutation in the SMARCE1 gene (Y73C; 603111.0001).The mutation was found by exome sequencing; functional studies of the variant were not performed. orchard general trading