SMARCB1 wt Allele

Known as: RDT, MRD15, SNF5 
Human SMARCB1 wild-type allele is located in the vicinity of 22q11.2 and is approximately 48 kb in length. This allele, which encodes SWI/SNF related… (More)
National Institutes of Health

Related topics

Related topics

9 relations
22q11.23Homo sapiensRhabdoid TumorRhabdoid Tumor Predisposition Syndrome
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Broader (1)

SMARCB1 gene

Papers overview

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Highly Cited
2011
Highly Cited
2011
Nonsense mutation and inactivation of SMARCA4 (BRG1) in an atypical teratoid/rhabdoid tumor showing retained SMARCB1 (INI1) expression.
Atypical teratoid/rhabdoid tumors (AT/RTs) are highly aggressive brain tumors of early childhood poorly responding to therapy… (More)
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Highly Cited
2010
Highly Cited
2010
Germline nonsense mutation and somatic inactivation of SMARCA4/BRG1 in a family with rhabdoid tumor predisposition syndrome.
Rhabdoid tumors of early infancy are highly aggressive with consequent poor prognosis. Most cases show inactivation of the… (More)
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Highly Cited
2009
Highly Cited
2009
Loss of INI1 expression is characteristic of both conventional and proximal-type epithelioid sarcoma.
INI1 (hSNF5/SMARCB1), a member of the SWI/SNF chromatin remodeling complex located on chromosome 22q11.2, is deleted or/or… (More)
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Highly Cited
2006
Highly Cited
2006
Immunohistochemical analysis of INI1 protein in malignant pediatric CNS tumors: Lack of INI1 in atypical teratoid/rhabdoid tumors and in a fraction of primitive neuroectodermal tumors without…
Immunohistochemical lack of nuclear INI1 protein expression has been recently described as characteristic finding in atypical… (More)
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Highly Cited
2004
Highly Cited
2004
Immunohistochemical analysis of hSNF5/INI1 in pediatric CNS neoplasms.
Atypical teratoid/rhabdoid tumor (AT/RT) may be misdiagnosed as primitive neuroectodermal tumor/medulloblastoma (PNET) and… (More)
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Highly Cited
2002
Highly Cited
2002
Alterations of the hSNF 5 / INI 1 Gene in Central Nervous System Atypical Teratoid / Rhabdoid Tumors and Renal and Extrarenal Rhabdoid Tumors 1
Germ-line and acquired mutations of the hSNF5/INI1 tumor suppressor gene have been reported in central nervous system (CNS… (More)
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Highly Cited
2001
Highly Cited
2001
Disruption of Ini1 leads to peri-implantation lethality and tumorigenesis in mice.
SNF5/INI1 is a component of the ATP-dependent chromatin remodeling enzyme family SWI/SNF. Germ line mutations of INI1 have been… (More)
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Highly Cited
2000
Highly Cited
2000
Haploinsufficiency of Snf5 (integrase interactor 1) predisposes to malignant rhabdoid tumors in mice.
Malignant rhabdoid tumor (MRT) is an aggressive, highly lethal cancer of young children. Tumors occur in various locations… (More)
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Highly Cited
1999
Highly Cited
1999
Germ-line and acquired mutations of INI1 in atypical teratoid and rhabdoid tumors.
We examined 18 atypical teratoid and rhabdoid tumors of the brain and 7 renal and 4 extrarenal rhabdoid tumors for mutations in… (More)
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Highly Cited
1996
Highly Cited
1996
Purification and biochemical heterogeneity of the mammalian SWI-SNF complex.
We have purified distinct complexes of nine to 12 proteins [referred to as BRG1-associated factors (BAFs)] from several mammalian… (More)
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