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Items: 8

1.
De Novo Loss-of-Function Variants in STAG2 are Associated with Developmental Delay, Microcephaly and Congenital Anomalies
S. V. Mullegama, S. Klein, M. V. Mulatinho, T.N. Senaratne, K. Singh, UCLA Clinical Genomics Center, D.C. Nguyen, N.M. Gallant, S.P. Strom, S. Ghahremani, P. N. Rao, J. A. Martinez-Agosto
Am J Med Genet A. Author manuscript; available in PMC 2020 Feb 21.
Published in final edited form as: Am J Med Genet A. 2017 May; 173(5): 1319–1327. Published online 2017 Mar 11. doi: 10.1002/ajmg.a.38207
PMCID:
PMC7033032
AbstractArticlePDF–863K
2.
Familial STAG2 germline mutation defines a new human cohesinopathy
Fernanda C. Soardi, Alice Machado-Silva, Natália D. Linhares, Ge Zheng, Qianhui Qu, Heloísa B. Pena, Thaís M. M. Martins, Helaine G. S. Vieira, Núbia B. Pereira, Raquel C. Melo-Minardi, Carolina C. Gomes, Ricardo S. Gomez, Dawidson A. Gomes, Douglas E. V. Pires, David B. Ascher, Hongtao Yu, Sérgio D. J. Pena
NPJ Genom Med. 2017; 2: 7. Published online 2017 Mar 20. doi: 10.1038/s41525-017-0009-4
PMCID:
PMC5677968
AbstractArticlePDF–3.9M
3.
Reduction of Nipbl impairs cohesin loading locally and affects transcription but not cohesion-dependent functions in a mouse model of Cornelia de Lange Syndrome
Silvia Remeseiro, Ana Cuadrado, Shimako Kawauchi, Anne L. Calof, Arthur D. Lander, Ana Losada
Biochim Biophys Acta. Author manuscript; available in PMC 2014 Dec 1.
Published in final edited form as: Biochim Biophys Acta. 2013 Dec; 1832(12): 10.1016/j.bbadis.2013.07.020. Published online 2013 Aug 3. doi: 10.1016/j.bbadis.2013.07.020
PMCID:
PMC3825806
AbstractArticlePDF–912K
4.
Phosphorylation-enabled binding of Sgo1–PP2A to cohesin protects sororin and centromeric cohesion during mitosis
Hong Liu, Susannah Rankin, Hongtao Yu
Nat Cell Biol. Author manuscript; available in PMC 2013 Jul 1.
Published in final edited form as: Nat Cell Biol. 2013 Jan; 15(1): 40–49. Published online 2012 Dec 16. doi: 10.1038/ncb2637
Correction in:
volume 15 on page 229
PMCID:
PMC3531828
AbstractArticlePDF–4.2M
5.
Cohesin regulates tissue-specific expression by stabilizing highly occupied cis-regulatory modules
Andre J. Faure, Dominic Schmidt, Stephen Watt, Petra C. Schwalie, Michael D. Wilson, Huiling Xu, Robert G. Ramsay, Duncan T. Odom, Paul Flicek
Genome Res. 2012 Nov; 22(11): 2163–2175. doi: 10.1101/gr.136507.111
PMCID:
PMC3483546
AbstractArticlePDF–1.2M
6.
A unique role of cohesin-SA1 in gene regulation and development
Silvia Remeseiro, Ana Cuadrado, Gonzalo Gómez-López, David G Pisano, Ana Losada
EMBO J. 2012 May 2; 31(9): 2090–2102. Published online 2012 Mar 13. doi: 10.1038/emboj.2012.60
PMCID:
PMC3343463
AbstractArticlePDF–2.9M
7.
Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium
Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas
Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042
PMCID:
PMC3178059
AbstractArticlePDF–1.0M
8.
Mediator and Cohesin Connect Gene Expression and Chromatin Architecture
Michael H. Kagey, Jamie J. Newman, Steve Bilodeau, Ye Zhan, David A. Orlando, Nynke L. van Berkum, Christopher C. Ebmeier, Jesse Goossens, Peter B. Rahl, Stuart S. Levine, Dylan J. Taatjes, Job Dekker, Richard A. Young
Nature. Author manuscript; available in PMC 2011 Mar 23.
Published in final edited form as: Nature. 2010 Sep 23; 467(7314): 430–435. Published online 2010 Aug 18. doi: 10.1038/nature09380
Correction in:
volume 472 on page 247
PMCID:
PMC2953795
AbstractArticlePDF–917K

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