Germline Nonsense Mutation and Somatic Inactivation of SMARCA4/BRG1 in a Family with Rhabdoid Tumor Predisposition Syndrome
- 1 February 2010
- journal article
- case report
- Published by Elsevier in American Journal of Human Genetics
- Vol. 86 (2) , 279-284
- https://doi.org/10.1016/j.ajhg.2010.01.013
Abstract
No abstract availableKeywords
This publication has 23 references indexed in Scilit:
- Intensive Multimodality Treatment for Children With Newly Diagnosed CNS Atypical Teratoid Rhabdoid TumorJournal of Clinical Oncology, 2009
- BRG1-Mediated Chromatin Remodeling Regulates Differentiation and Gene Expression of T Helper CellsMolecular and Cellular Biology, 2008
- Frequent BRG1/SMARCA4-inactivating mutations in human lung cancer cell linesHuman Mutation, 2008
- Long-term survival and transmission of INI1-mutation via nonpenetrant males in a family with rhabdoid tumour predisposition syndromeBritish Journal of Cancer, 2007
- Impact of mutations in the von Willebrand factor A2 domain on ADAMTS13-dependent proteolysisBlood, 2006
- Predisposition to atypical teratoid/rhabdoid tumor due to an inherited INI1 mutationPediatric Blood & Cancer, 2005
- Non‐linkage of familial rhabdoid tumors to SMARCB1 implies a second locus for the rhabdoid tumor predisposition syndromePediatric Blood & Cancer, 2005
- Childhood solid tumours: a developmental disorderNature Reviews Cancer, 2005
- Genetic and Epigenetic screening for gene alterations of the chromatin‐remodeling factor, SMARCA4/BRG1, in lung tumorsGenes, Chromosomes and Cancer, 2004
- Truncating mutations of hSNF5/INI1 in aggressive paediatric cancerNature, 1998