PMC Links for OMIM (Select 601607) - PMC

Select item 52854741.

SMARCB1-mediated SWI/SNF complex function is essential for enhancer regulation

Xiaofeng Wang, Ryan S. Lee, Burak H. Alver, Jeffrey R. Haswell, Su Wang, Jakub Mieczkowski, Yotam Drier, Shawn M. Gillespie, Tenley C. Archer, Jennifer N. Wu, Evgeni P. Tzvetkov, Emma C. Troisi, Scott L. Pomeroy, Jaclyn A. Biegel, Michael Y. Tolstorukov, Bradley E. Bernstein, Peter J. Park, Charles W. M. Roberts

Nat Genet. Author manuscript; available in PMC 2017 Jun 12.

Published in final edited form as: Nat Genet. 2017 Feb; 49(2): 289–295. Published online 2016 Dec 12. doi: 10.1038/ng.3746

PMCID:: PMC5285474

Abstract Article PDF–1.9M

Select item 38594482.

Loss of the tumor suppressor Snf5 leads to aberrant activation of the Hedgehog-Gli pathway

Zainab Jagani, E Lorena Mora-Blanco, Courtney G Sansam, Elizabeth S McKenna, Boris Wilson, Dongshu Chen, Justin Klekota, Pablo Tamayo, Phuong T L Nguyen, Michael Tolstorukov, Peter J Park, Yoon-Jae Cho, Kathy Hsiao, Silvia Buonamici, Scott L Pomeroy, Jill P Mesirov, Heinz Ruffner, Tewis Bouwmeester, Sarah J Luchansky, Joshua Murtie, Joseph F Kelleher, Markus Warmuth, William R Sellers, Charles W M Roberts, Marion Dorsch

Nat Med. Author manuscript; available in PMC 2013 Dec 11.

Published in final edited form as: Nat Med. 2010 Dec; 16(12): 10.1038/nm.2251. Published online 2010 Nov 14. doi: 10.1038/nm.2251

PMCID:: PMC3859448

Abstract Article PDF–913K

Select item 33972753.

Disruption of an EHMT1-Associated Chromatin-Modification Module Causes Intellectual Disability

Tjitske Kleefstra, Jamie M. Kramer, Kornelia Neveling, Marjolein H. Willemsen, Tom S. Koemans, Lisenka E.L.M. Vissers, Willemijn Wissink-Lindhout, Michaela Fenckova, Willem M.R. van den Akker, Nael Nadif Kasri, Willy M. Nillesen, Trine Prescott, Robin D. Clark, Koenraad Devriendt, Jeroen van Reeuwijk, Arjan P.M. de Brouwer, Christian Gilissen, Huiqing Zhou, Han G. Brunner, Joris A. Veltman, Annette Schenck, Hans van Bokhoven

Am J Hum Genet. 2012 Jul 13; 91(1): 73–82. doi: 10.1016/j.ajhg.2012.05.003

PMCID:: PMC3397275

Abstract Article PDF–770K

Select item 28431504.

Familial occurrence of schwannomas and malignant rhabdoid tumour associated with a duplication in SMARCB1

J J Swensen, J Keyser, C M Coffin, J A Biegel, D H Viskochil, M S Williams

J Med Genet. Author manuscript; available in PMC 2010 Mar 22.

Published in final edited form as: J Med Genet. 2009 Jan; 46(1): 68–72. doi: 10.1136/jmg.2008.060152

PMCID:: PMC2843150

Abstract Article PDF–3.1M

Select item 23637075.

INI1 mutations in meningiomas at a potential hotspot in exon 9

U Schmitz, W Mueller, M Weber, N Sévenet, O Delattre, A von Deimling

Br J Cancer. 2001 Jan; 84(2): 199–201. doi: 10.1054/bjoc.2000.1583

PMCID:: PMC2363707

Summary PDF–78K

Select item 18527156.

Germline Mutation of INI1/SMARCB1 in Familial Schwannomatosis

Theo J. M. Hulsebos, Astrid S. Plomp, Ruud A. Wolterman, Els C. Robanus-Maandag, Frank Baas, Pieter Wesseling

Am J Hum Genet. 2007 Apr; 80(4): 805–810. Published online 2007 Feb 16. doi: 10.1086/513207

PMCID:: PMC1852715

Abstract Article PDF–346K

Select item 12882867.

Constitutional Mutations of the hSNF5/INI1 Gene Predispose to a Variety of Cancers

Nicolas Sévenet, Eammon Sheridan, Daniel Amram, Pascale Schneider, Rupert Handgretinger, Olivier Delattre

Am J Hum Genet. 1999 Nov; 65(5): 1342–1348. Published online 1999 Oct 5. doi: 10.1086/302639

PMCID:: PMC1288286

Abstract Article PDF–721K

Select item 12882048.

Familial Posterior Fossa Brain Tumors of Infancy Secondary to Germline Mutation of the hSNF5 Gene

Michael D. Taylor, Nalan Gokgoz, Irene L. Andrulis, Todd G. Mainprize, James M. Drake, James T. Rutka

Am J Hum Genet. 2000 Apr; 66(4): 1403–1406. Published online 2000 Mar 14. doi: 10.1086/302833

PMCID:: PMC1288204

Abstract Article PDF–712K

Select item 11893349.

Genetic ablation of Cyclin D1 abrogates genesis of rhabdoid tumors resulting from Ini1 loss

Mary Tsikitis, Zhikai Zhang, Winfried Edelman, David Zagzag, Ganjam V. Kalpana

Proc Natl Acad Sci U S A. 2005 Aug 23; 102(34): 12129–12134. Published online 2005 Aug 12. doi: 10.1073/pnas.0505300102

PMCID:: PMC1189334

Abstract Article PDF–550K

Select item 106571910.

Cancer-associated mutations in chromatin remodeler hSNF5 promote chromosomal instability by compromising the mitotic checkpoint

Robert G.J. Vries, Vladimir Bezrookove, Lobke M.P. Zuijderduijn, Sima Kheradmand Kia, Ada Houweling, Igor Oruetxebarria, Anton K. Raap, C. Peter Verrijzer

Genes Dev. 2005 Mar 15; 19(6): 665–670. doi: 10.1101/gad.335805

PMCID:: PMC1065719

Abstract Article PDF–828K

Select item 1765511.

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

Charles W. M. Roberts, Shelly A. Galusha, Máirín E. McMenamin, Christopher D. M. Fletcher, Stuart H. Orkin

Proc Natl Acad Sci U S A. 2000 Dec 5; 97(25): 13796–13800. Published online 2000 Nov 28. doi: 10.1073/pnas.250492697

PMCID:: PMC17655

Abstract Article PDF–776K

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from OMIM

Items: 11

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity