(Q33645991)

28 July 2017

0 references

Germline nonsense mutation and somatic inactivation of SMARCA4/BRG1 in a family with rhabdoid tumor predisposition syndrome (English)

1 reference

rhabdoid tumor predisposition syndrome

28 July 2017

main subject

0 references

1 reference

based on heuristic

inferred from title

author

Reinhard Schneppenheim

1

Reinhard Schneppenheim

0 references

Inga Vater

12

Inga Vater

0 references

Martin Hasselblatt

4

Martin Hasselblatt

0 references

Reiner Siebert

13

Reiner Siebert

1 reference

28 July 2017

11

Florian Oyen

1 reference

28 July 2017

Michael C Frühwald

2

1 reference

28 July 2017

Stefan Gesk

3

1 reference

28 July 2017

Astrid Jeibmann

5

1 reference

28 July 2017

Uwe Kordes

6

1 reference

28 July 2017

Markus Kreuz

7

1 reference

28 July 2017

Ivo Leuschner

8

1 reference

28 July 2017

Jose Ignacio Martin Subero

9

1 reference

28 July 2017

Tobias Obser

10

1 reference

28 July 2017

language of work or name

English

0 references

publication date

4 February 2010

1 reference

American Journal of Human Genetics

28 July 2017

published in

1 reference

28 July 2017

volume

86

1 reference

28 July 2017

issue

2

1 reference

28 July 2017

page(s)

279-284

1 reference

Oncogenesis caused by loss of the SNF5 tumor suppressor is dependent on activity of BRG1, the ATPase of the SWI/SNF chromatin remodeling complex.

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820190

The role of SMARCB1/INI1 in development of rhabdoid tumor.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820190

Genomic analysis using high-density single nucleotide polymorphism-based oligonucleotide arrays and multiplex ligation-dependent probe amplification provides a comprehensive analysis of INI1/SMARCB1 in malignant rhabdoid tumors

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820190

The SWI/SNF complex and cancer

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820190

Intensive Multimodality Treatment for Children With Newly Diagnosed CNS Atypical Teratoid Rhabdoid Tumor

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820190

BRG1-mediated chromatin remodeling regulates differentiation and gene expression of T helper cells

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820190

Frequent BRG1/SMARCA4-inactivating mutations in human lung cancer cell lines

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820190

Long-term survival and transmission of INI1-mutation via nonpenetrant males in a family with rhabdoid tumour predisposition syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820190

Predisposition to atypical teratoid/rhabdoid tumor due to an inherited INI1 mutation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820190

Genetic and epigenetic screening for gene alterations of the chromatin-remodeling factor, SMARCA4/BRG1, in lung tumors.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820190

The SWI/SNF complex--chromatin and cancer.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820190

Disruption of Ini1 leads to peri-implantation lethality and tumorigenesis in mice

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820190

A Brg1 null mutation in the mouse reveals functional differences among mammalian SWI/SNF complexes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820190

Haploinsufficiency of Snf5 (integrase interactor 1) predisposes to malignant rhabdoid tumors in mice

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820190

BRG1, a component of the SWI-SNF complex, is mutated in multiple human tumor cell lines

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820190

Familial posterior fossa brain tumors of infancy secondary to germline mutation of the hSNF5 gene

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820190

Constitutional mutations of the hSNF5/INI1 gene predispose to a variety of cancers

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820190

Truncating mutations of hSNF5/INI1 in aggressive paediatric cancer

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820190

Clinical and molecular features in patients with atypical teratoid rhabdoid tumor or malignant rhabdoid tumor.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820190

Impact of mutations in the von Willebrand factor A2 domain on ADAMTS13-dependent proteolysis.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820190

Non-linkage of familial rhabdoid tumors to SMARCB1 implies a second locus for the rhabdoid tumor predisposition syndrome

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820190

Childhood solid tumours: a developmental disorder

30 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20137775

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Mutations of the hSNF5/INI1 Gene in Renal Rhabdoid Tumors With Second Primary Brain Tumors

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20137775

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2010.01.013

1 reference

28 July 2017

1 reference

28 July 2017

1 reference