PMC Links for Gene (Select 294787) - PMC

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Items: 13

Select item 33762731.

Intragenic and large NIPBL rearrangements revealed by MLPA in Cornelia de Lange patients

Silvia Russo, Maura Masciadri, Cristina Gervasini, Jacopo Azzollini, Anna Cereda, Giuseppe Zampino, Oskar Haas, Gioacchino Scarano, Maja Di Rocco, Palma Finelli, Romano Tenconi, Angelo Selicorni, Lidia Larizza

Eur J Hum Genet. 2012 Jul; 20(7): 734–741. Published online 2012 Feb 22. doi: 10.1038/ejhg.2012.7

PMCID:: PMC3376273

Abstract Article PDF–664K

Select item 27305392.

Multiple Organ System Defects and Transcriptional Dysregulation in the Nipbl^+/− Mouse, a Model of Cornelia de Lange Syndrome

Shimako Kawauchi, Anne L. Calof, Rosaysela Santos, Martha E. Lopez-Burks, Clint M. Young, Michelle P. Hoang, Abigail Chua, Taotao Lao, Mark S. Lechner, Jeremy A. Daniel, Andre Nussenzweig, Leonard Kitzes, Kyoko Yokomori, Benedikt Hallgrimsson, Arthur D. Lander

PLoS Genet. 2009 Sep; 5(9): e1000650. Published online 2009 Sep 18. doi: 10.1371/journal.pgen.1000650

PMCID:: PMC2730539

Abstract Article PDF–1.1M

Select item 56873033.

Two independent modes of chromatin organization revealed by cohesin removal

Wibke Schwarzer, Nezar Abdennur, Anton Goloborodko, Aleksandra Pekowska, Geoffrey Fudenberg, Yann Loe-Mie, Nuno A Fonseca, Wolfgang Huber, Christian Haering, Leonid Mirny, Francois Spitz

Nature. Author manuscript; available in PMC 2018 Mar 27.

Published in final edited form as: Nature. 2017 Nov 2; 551(7678): 51–56. Published online 2017 Sep 27. doi: 10.1038/nature24281

PMCID:: PMC5687303

Abstract Article PDF–5.8M

Select item 49020174.

Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B

Ian D Krantz, Jennifer McCallum, Cheryl DeScipio, Maninder Kaur, Lynette A Gillis, Dinah Yaeger, Lori Jukofsky, Nora Wasserman, Armand Bottani, Colleen A Morris, Malgorzata J M Nowaczyk, Helga Toriello, Michael J Bamshad, John C Carey, Eric Rappaport, Shimako Kawauchi, Arthur D Lander, Anne L Calof, Hui-hua Li, Marcella Devoto, Laird G Jackson

Nat Genet. Author manuscript; available in PMC 2016 Jun 10.

Published in final edited form as: Nat Genet. 2004 Jun; 36(6): 631–635. Published online 2004 May 16. doi: 10.1038/ng1364

PMCID:: PMC4902017

Abstract Article PDF–1.2M

Select item 27665395.

Precocious Sister Chromatid Separation (PSCS) in Cornelia de Lange Syndrome

Maninder Kaur, Cheryl DeScipio, Jennifer McCallum, Dinah Yaeger, Marcella Devoto, Laird G. Jackson, Nancy B. Spinner, Ian D. Krantz

Am J Med Genet A. Author manuscript; available in PMC 2009 Oct 24.

Published in final edited form as: Am J Med Genet A. 2005 Sep 15; 138(1): 27–31. doi: 10.1002/ajmg.a.30919

PMCID:: PMC2766539

Abstract Article PDF–422K

Select item 52632566.

Nipbl Interacts with Zfp609 and the Integrator Complex to Regulate Cortical Neuron Migration

Debbie L.C. van den Berg, Roberta Azzarelli, Koji Oishi, Ben Martynoga, Noelia Urbán, Dick H.W. Dekkers, Jeroen A. Demmers, François Guillemot

Neuron. 2017 Jan 18; 93(2): 348–361. doi: 10.1016/j.neuron.2016.11.047

PMCID:: PMC5263256

Abstract Article

Select item 25826097.

The Cohesin loading factor NIPBL recruits histone deacetylases to mediate local chromatin modifications

Philipp Jahnke, Weizhen Xu, Manuela Wülling, Melanie Albrecht, Heinz Gabriel, Gabriele Gillessen-Kaesbach, Frank J. Kaiser

Nucleic Acids Res. 2008 Nov; 36(20): 6450–6458. Published online 2008 Oct 14. doi: 10.1093/nar/gkn688

PMCID:: PMC2582609

Abstract Article PDF–2.7M

Select item 33860758.

In vitro loading of human cohesin on DNA by the human Scc2-Scc4 loader complex

Vladimir P. Bermudez, Andrea Farina, Torahiko L. Higashi, Fang Du, Inger Tappin, Tatsuro S. Takahashi, Jerard Hurwitz

Proc Natl Acad Sci U S A. 2012 Jun 12; 109(24): 9366–9371. Published online 2012 May 24. doi: 10.1073/pnas.1206840109

PMCID:: PMC3386075

Abstract Article PDF–629K

Select item 14844989.

Metazoan Scc4 Homologs Link Sister Chromatid Cohesion to Cell and Axon Migration Guidance

Vlad C Seitan, Peter Banks, Steve Laval, Nazia A Majid, Dale Dorsett, Amer Rana, Jim Smith, Alex Bateman, Sanja Krpic, Arnd Hostert, Robert A Rollins, Hediye Erdjument-Bromage, Paul Tempst, Claire Y Benard, Siegfried Hekimi, Sarah F Newbury, Tom Strachan

PLoS Biol. 2006 Aug; 4(8): e242. Published online 2006 Jul 4. doi: 10.1371/journal.pbio.0040242

PMCID:: PMC1484498

Abstract Article PDF–627K

Select item 382580610.

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 295379511.

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 263705012.

Large-Scale Proteomics and Phosphoproteomics of Urinary Exosomes

Patricia A. Gonzales, Trairak Pisitkun, Jason D. Hoffert, Dmitry Tchapyjnikov, Robert A. Star, Robert Kleta, Nam Sun Wang, Mark A. Knepper

J Am Soc Nephrol. 2009 Feb; 20(2): 363–379. doi: 10.1681/ASN.2008040406

PMCID:: PMC2637050

Abstract Article

Select item 317805913.

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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PMC Links for Gene (Select 294787) (13)
PMC
PREDICTED: Rattus norvegicus NIPBL, cohesin loading factor (Nipbl), transcript v...
PREDICTED: Rattus norvegicus NIPBL, cohesin loading factor (Nipbl), transcript variant X2, mRNA
gi|2678917402|ref|XM_063281521.1|

Nucleotide
Skp2-ps1 S-phase kinase-associated protein 2, pseudogene 1 [Rattus norvegicus]
Skp2-ps1 S-phase kinase-associated protein 2, pseudogene 1 [Rattus norvegicus]
Gene ID:690646

Gene

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