PMC Links for Gene (Select 313304) - PMC

Select item 70330321.

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

Abstract Article PDF–863K

Select item 56779682.

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

Abstract Article PDF–3.9M

Select item 35318283.

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

Abstract Article PDF–4.2M

Select item 33434634.

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

Abstract Article PDF–2.9M

Select item 38258065.

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

Abstract Article PDF–912K

Select item 34835466.

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

Abstract Article PDF–1.2M

Select item 29537957.

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

Abstract Article PDF–917K

Select item 31780598.

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

Abstract Article PDF–1.0M

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