ライフサイエンスコーパス: SMARCB1

1 ag1, Lgals3, Lypd3, Nme1, Ptges2, Ptgs1, and Smarcb1).

2 n of wild-type SS18 and the tumor suppressor SMARCB1.

3 underlying the tumor-suppressive activity of SMARCB1.

4 ed schwannomatosis cases lacking mutation in SMARCB1.

5 Snf5 (Ini1/Baf47/Smarcb1), a core member of the Swi/Snf chromatin remodel

6 The highest priority gene was SMARCB1, a core member of the SWI/SNF complex which prom

7 childhood characterized by biallelic loss of SMARCB1, a subunit of the SWI/SNF chromatin remodeling c

8 bation of cell fate, shows that depletion of Smarcb1 activates the Myc network, driving an anabolic s

9 schwannoma but no mutation of the remaining SMARCB1 allele in blood and tumor samples.

10 , and fluorescence in situ hybridization for SMARCB1 (also known as hSNF5/INI1) deletion.

11 SMARCB1 (also known as SNF5, INI1, and BAF47), a core su

12 in demographics, tumor location, and type of SMARCB1 alterations, were identified.

13 omatic loss of one copy of 22q, encompassing SMARCB1 and NF2, with a different somatic mutation of th

14 -specific conditional knockout mice carrying Smarcb1 and/or Nf2 deletion.

15 ients with schwannoma were screened for NF2, SMARCB1, and LZTR1 gene mutations, while patients with m

16 ce neurography and mutation analysis of NF2, SMARCB1, and LZTR1.

17 CML cells to imatinib treatment: PTPN1, NF1, SMARCB1, and SMARCE1, and 5 regulators of the response t

18 x-gene model, including PARP1, EP300, KDM5C, SMARCB1, and UHRF1 matched this pattern.

19 pose that residual SWI/SNF complexes lacking SMARCB1 are vital determinants of drug sensitivity, not

20 understand the origin of these two types of SMARCB1-associated tumors, we generated different tissue

21 inactivation of the core BAF complex subunit SMARCB1 (BAF47).

22 SNF5 (INI1/SMARCB1/BAF47) is a tumor suppressor that regulates the

23 extremely low rate of mutation, with loss of SMARCB1 being essentially the sole recurrent event.

24 Furthermore, we analyzed SMARCB1 by fluorescence in situ hybridization and multip

25 poptosis and differentiation specifically in SMARCB1-deleted MRT cells.

26 Exon scanning of all nine SMARCB1 exons in genomic DNA from our cohort of families

27 in human ALL cell lines confirmed that lower SMARCB1 expression increased prednisolone resistance.

28 on of biallelic, truncating mutations of the SMARCB1 gene in malignant rhabdoid tumors, a highly aggr

29 Germline mutations of the SMARCB1 gene predispose to two distinct tumor syndromes:

30 ic subgroups with distinct genomic profiles, SMARCB1 genotypes, and chromatin landscape that correlat

31 The mechanisms by which SMARCB1 germline mutations predispose to rhabdoid tumors

32 ved understanding of the biology and role of SMARCB1 has enabled identification of new targets for sm

33 hromatin remodeling protein SNF5 (encoded by SMARCB1, hereafter called SNF5), which is inactivated in

34 s with characteristic genetic alterations of SMARCB1/hSNF5.

35 AT/RTs, we specifically deleted Smarca4 and Smarcb1 in cerebellar granule cell precursors.

36 s of the nuclear chromatin-remodeling factor SMARCB1 in rhabdoid tumors led to increased phosphorylat

37 SMARCA4 (BRG1) and SMARCB1 (INI1) are tumor suppressor genes that are cruci

38 INI1/hSNF5/BAF47/SMARCB1 is an HIV-1 integrase (IN)-binding protein that

39 tch/sucrose nonfermentable complex component SMARCB1 is extremely prevalent in pediatric malignant rh

40 summary, we provide functional evidence that SMARCB1 is involved in prednisolone resistance and ident

41 We show that SMARCB1 is required for the integrity of SWI/SNF complex

42 ase in apoptosis of human cells with reduced SMARCB1 levels.

43 By inducing Smarcb1 loss at later developmental stage in the Schwann

44 present new mouse models and show that early Smarcb1 loss causes rhabdoid tumors whereas loss at late

45 suggesting an epigenetic mechanism by which SMARCB1 loss drives transformation.

46 Smarcb1 loss in early neural crest was necessary to init

47 RCB1 loss, but the molecular consequences of SMARCB1 loss in extra-cranial tumors have not been compr

48 ulation and doxorubicin resistance caused by SMARCB1 loss were dependent on the function of SMARCA4,

49 MRTs are driven by SMARCB1 loss, but the molecular consequences of SMARCB1

50 fied a promoter SNP that alters the level of SMARCB1 mRNA and protein expression and the binding of P

51 The -228G>T SNP altered SMARCB1 mRNA and protein levels and a positive associati

52 a positive association was found between the SMARCB1 mRNA level and both the -228 genotype and predni

53 ther used an hGFAP-cre allele, which deleted Smarcb1 much earlier and in a wider neural precursor pop

54 These data demonstrate the dependency of SMARCB1 mutant MRTs on EZH2 enzymatic activity and porte

55 (23%) tumours from patients with no germline SMARCB1 mutation exhibited MR.

56 ad previously tested positive for a germline SMARCB1 mutation, this involved loss of the whole, or pa

57 Constitutional SMARCB1 mutations at 22q11.23 have been found in approxi

58 SMARCB1 mutations predispose to rhabdoid tumors and schw

59 either with genomic instability or recurrent SMARCB1 mutations.

60 -independent escapers reveal the presence of Smarcb1-Myc-network-driven mesenchymal reprogramming and

61 ows that MR is a mechanism of LOH in NF2 and SMARCB1-negative schwannomatosis-related schwannomas, oc

62 We found no evidence of MR in SMARCB1-positive schwannomatosis, suggesting that suscep

63 (PARP1) as a nuclear protein binding to the SMARCB1 promoter and showed that the -228 SNP significan

64 We identified several SNPs in the SMARCB1 promoter in lymphoblastoid cells from 90 individ

65 n expression and the binding of PARP1 to the SMARCB1 promoter.

66 These data, together with the expression of SMARCB1 protein in a proportion of cells from schwannoma

67 stinct from that of rhabdoid tumors in which SMARCB1 protein is completely absent in tumor cells.

68 ATRi sensitivity and a reduction in SS18 and SMARCB1 protein levels, but an SSX18-SSX1 Delta71-78 fus

69 that mutant SMARCB1 proteins, like wild-type SMARCB1 protein, retain the ability to suppress cyclin D

70 in cells lacking SMARCB1 suggest that mutant SMARCB1 proteins, like wild-type SMARCB1 protein, retain

71 f the core complex subunits, SNR1 (SNF5/INI1/SMARCB1), results in reproducible wing patterning phenot

72 ients with meningioma were screened for NF2, SMARCB1, SMARCE1, and SUFU.

73 orubicin resistance conferred by loss of the SMARCB1 subunit of the SWI/SNF complex was caused by tra

74 Overexpression studies in cells lacking SMARCB1 suggest that mutant SMARCB1 proteins, like wild-

75 found no recurrent mutations in addition to SMARCB1 that would explain the differences between subgr

76 In addition to mutations in POLR2A, NF2, SMARCB1, TRAF7, KLF4, AKT1, PIK3CA, and SMO, we also rep

77 predicted to affect chromatin (BCOR, KDM6A, SMARCB1, TRRAP), immune surveillance (CD58, RFXAP), MAPK

78 Genetic changes in the SMARCB1 tumor suppressor gene have recently been reporte

79 occurs at the genetic locus SNF5 (Ini1/BAF47/Smarcb1), which functions as a subunit of the SWI/SNF ch

80 contain a biallelic inactivating mutation in SMARCB1, which is part of the chromatin remodelling comp