نتایج جستجو برای: smarca4 gene

تعداد نتایج: 1141500  

Journal: :Development 2012
Yuna Kim Andrew M Fedoriw Terry Magnuson

Germ cell development and gametogenesis require genome-wide transitions in epigenetic modifications and chromatin structure. These changes include covalent modifications to the DNA and histones as well as remodeling activities. Here, we explore the role of the mammalian SWI/SNF chromatin-remodeling complex during spermatogenesis using a conditional allele of the ATPase subunit, brahma-related g...

2013
A. Hunter Shain Jonathan R. Pollack

SWI/SNF is a multi-subunit chromatin remodeling complex that uses the energy of ATP hydrolysis to reposition nucleosomes, thereby modulating gene expression. Accumulating evidence suggests that SWI/SNF functions as a tumor suppressor in some cancers. However, the spectrum of SWI/SNF mutations across human cancers has not been systematically investigated. Here, we mined whole-exome sequencing da...

Journal: :Nucleic acids research 1995
C Muchardt C Sardet B Bourachot C Onufryk M Yaniv

In yeast, the SNF/SWI complex is involved in transcriptional activation of several inducible promoters, possibly by causing a local modification of the chromatin structure. Recently, two human homologues of the SNF2/SWI2 protein have been isolated, hbrm and BRG-1. In addition, a complex containing one of the SNF2/SWI2 homologues and having an in vitro activity similar to the yeast complex has b...

2015
Alex Rabinovich Leora Witkowski Ruthy Shaco-Levi Mihai Meirovitz Martin Hasselblatt William D. Foulkes

•The third case of pure primary malignant rhabdoid tumor of the ovary (MRTO) is described•SMARCA4 and SMARCB1 genetic analysis and immunohistochemistry are necessary for correct diagnosis of MRTO•MRTO and small cell carcinoma of the ovary, hypercalcemic type are essentially the same and should be treated as such.

Journal: :Eukaryotic cell 2006
Jeffrey S Fillingham Jyoti Garg Nora Tsao Nama Vythilingum Takamitsu Nishikawa Ronald E Pearlman

We used a reverse genetic approach to identify three members of the SNF2 superfamily of chromatin remodeling genes in the ciliated protozoan Tetrahymena thermophila in order to investigate possible functions of ATP-dependent chromatin remodeling factors in growth and nuclear development. Comparative sequence analysis of the gene product of the Tetrahymena brahma-related gene (TtBRG1) indicates ...

Journal: :Clinical cancer research : an official journal of the American Association for Cancer Research 2017
William D Foulkes Junne Kamihara D Gareth R Evans Laurence Brugières Franck Bourdeaut Jan J Molenaar Michael F Walsh Garrett M Brodeur Lisa Diller

Gorlin syndrome and rhabdoid tumor predisposition syndrome (RTPS) are autosomal dominant syndromes associated with an increased risk of childhood-onset brain tumors. Individuals with Gorlin syndrome can manifest a wide range of phenotypic abnormalities, with about 5% of family members developing medulloblastoma, usually occurring in the first 3 years of life. Gorlin syndrome is associated with ...

2013
Karen M. Imbalzano Nathalie Cohet Qiong Wu Jean M. Underwood Anthony N. Imbalzano Jeffrey A. Nickerson

Changes in nuclear morphology occur during normal development and have been observed during the progression of several diseases. The shape of a nucleus is governed by the balance of forces exerted by nuclear-cytoskeletal contacts and internal forces created by the structure of the chromatin and nuclear envelope. However, factors that regulate the balance of these forces and determine nuclear sh...

Journal: :Journal of Thoracic Oncology 2021

The human BAF multiprotein complex of adenosine triphosphate-dependent nucleosome remodeler (mammalian SWItch/sucrose nonfermentable) regulates gene expression, cell proliferation and differentiation by tuning transcription factor access to chromatin. It is composed about 15 high-evolutionarily conserved proteins, which are involved in approximately 20% life-threatening malignancies at ubiquito...

Journal: :Cancer research 2015
Bhavatarini Vangamudi Thomas A Paul Parantu K Shah Maria Kost-Alimova Lisa Nottebaum Xi Shi Yanai Zhan Elisabetta Leo Harshad S Mahadeshwar Alexei Protopopov Andrew Futreal Trang N Tieu Mike Peoples Timothy P Heffernan Joseph R Marszalek Carlo Toniatti Alessia Petrocchi Dominique Verhelle Dafydd R Owen Giulio Draetta Philip Jones Wylie S Palmer Shikhar Sharma Jannik N Andersen

The SWI/SNF multisubunit complex modulates chromatin structure through the activity of two mutually exclusive catalytic subunits, SMARCA2 and SMARCA4, which both contain a bromodomain and an ATPase domain. Using RNAi, cancer-specific vulnerabilities have been identified in SWI/SNF-mutant tumors, including SMARCA4-deficient lung cancer; however, the contribution of conserved, druggable protein d...

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