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Items: 1 to 20 of 38

1.
Gastrulation-stage gene expression in Nipbl+/− mouse embryos foreshadows the development of syndromic birth defects
Stephenson Chea, Jesse Kreger, Martha E. Lopez-Burks, Adam L. MacLean, Arthur D. Lander, Anne L. Calof
Sci Adv. 2024 Mar 22; 10(12): eadl4239. Published online 2024 Mar 20. doi: 10.1126/sciadv.adl4239
PMCID:
PMC10954218
AbstractArticlePDF–13M
2.
The effect of Nipped-B-like (Nipbl) haploinsufficiency on genome-wide cohesin binding and target gene expression: modeling Cornelia de Lange syndrome
Daniel A. Newkirk, Yen-Yun Chen, Richard Chien, Weihua Zeng, Jacob Biesinger, Ebony Flowers, Shimako Kawauchi, Rosaysela Santos, Anne L. Calof, Arthur D. Lander, Xiaohui Xie, Kyoko Yokomori
Clin Epigenetics. 2017; 9: 89. Published online 2017 Aug 25. doi: 10.1186/s13148-017-0391-x
PMCID:
PMC5574093
AbstractArticlePDF–3.3M
3.
Localisation of the SMC loading complex Nipbl/Mau2 during mammalian meiotic prophase I
T. Visnes, F. Giordano, A. Kuznetsova, J. A. Suja, A. D. Lander, A. L. Calof, L. Ström
Chromosoma. 2014; 123(3): 239–252. Published online 2013 Nov 28. doi: 10.1007/s00412-013-0444-7
PMCID:
PMC4031387
AbstractArticlePDF–15M
4.
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
AbstractArticlePDF–1.1M
5.
Decreasing Wapl dosage partially corrects embryonic growth and brain transcriptome phenotypes in Nipbl+/− embryos
Connor M. Kean, Christopher J. Tracy, Apratim Mitra, Beenish Rahat, Matthew T. Van Winkle, Claudia M. Gebert, Jacob A. Noeker, Anne L. Calof, Arthur D. Lander, Judith A. Kassis, Karl Pfeifer
Sci Adv. 2022 Nov; 8(48): eadd4136. Published online 2022 Nov 30. doi: 10.1126/sciadv.add4136
PMCID:
PMC9710879
AbstractArticlePDF–1.5M
6.
Neuronal genes deregulated in Cornelia de Lange Syndrome respond to removal and re-expression of cohesin
Felix D. Weiss, Lesly Calderon, Yi-Fang Wang, Radina Georgieva, Ya Guo, Nevena Cvetesic, Maninder Kaur, Gopuraja Dharmalingam, Ian D. Krantz, Boris Lenhard, Amanda G. Fisher, Matthias Merkenschlager
Nat Commun. 2021; 12: 2919. Published online 2021 May 18. doi: 10.1038/s41467-021-23141-9
PMCID:
PMC8131595
AbstractArticlePDF–3.9M
7.
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
AbstractArticlePDF–5.8M
8.
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
AbstractArticlePDF–1.2M
9.
Nipbl Haploinsufficiency Leads to Delayed Outflow Tract Septation and Aortic Valve Thickening
Fanny Boulet, Gaelle Odelin, Alenca Harrington, Thomas Moore-Morris
Int J Mol Sci. 2023 Nov; 24(21): 15564. Published online 2023 Oct 25. doi: 10.3390/ijms242115564
PMCID:
PMC10648932
AbstractArticlePDF–4.7M
10.
BRD4 orchestrates genome folding to promote neural crest differentiation
Ricardo Linares-Saldana, Wonho Kim, Nikhita A. Bolar, Haoyue Zhang, Bailey A. Koch-Bojalad, Sora Yoon, Parisha P. Shah, Ashley Karnay, Daniel S. Park, Jennifer M. Luppino, Son C. Nguyen, Arun Padmanabhan, Cheryl L. Smith, Andrey Poleshko, Qiaohong Wang, Li Li, Deepak Srivastava, Golnaz Vahedi, Gwang Hyeon Eom, Gerd A. Blobel, Eric F. Joyce, Rajan Jain
Nat Genet. Author manuscript; available in PMC 2022 Apr 5.
Published in final edited form as: Nat Genet. 2021 Oct; 53(10): 1480–1492. Published online 2021 Oct 5. doi: 10.1038/s41588-021-00934-8
Correction in:
Nat Genet. 2021 Nov 1
PMCID:
PMC8500624
AbstractArticlePDF–6.6M
11.
BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange-like syndrome
Gabrielle Olley, Morad Ansari, Hemant Bengani, Graeme R Grimes, James Rhodes, Alex von Kriegsheim, Ana Blatnik, Fiona J. Stewart, Emma Wakeling, Nicola Carroll, Alison Ross, Soo-Mi Park, DDD study, Wendy A Bickmore, Madapura M Pradeepa, David R FitzPatrick
Nat Genet. Author manuscript; available in PMC 2019 Apr 17.
Published in final edited form as: Nat Genet. 2018 Mar; 50(3): 329–332. Published online 2018 Jan 29. doi: 10.1038/s41588-018-0042-y
Correction in:
Nat Genet. 2018 Feb 12
Correction in:
Nat Genet. 2019 Jun 3
PMCID:
PMC6469577
AbstractArticlePDF–871K
12.
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
AbstractArticle
13.
Genetic Enhancement of Limb Defects in a Mouse Model of Cornelia de Lange Syndrome
MARTHA E. LOPEZ-BURKS, ROSAYSELA SANTOS, SHIMAKO KAWAUCHI, ANNE L. CALOF, ARTHUR D. LANDER
Am J Med Genet C Semin Med Genet. Author manuscript; available in PMC 2016 Jun 27.
Published in final edited form as: Am J Med Genet C Semin Med Genet. 2016 Jun; 172(2): 146–154. Published online 2016 Apr 27. doi: 10.1002/ajmg.c.31491
PMCID:
PMC4921392
AbstractArticlePDF–1.0M
14.
NIPBL Controls RNA Biogenesis to Prevent Activation of the Stress Kinase PKR
Kobe C. Yuen, Baoshan Xu, Ian D. Krantz, Jennifer L. Gerton
Cell Rep. Author manuscript; available in PMC 2016 Jun 13.
Published in final edited form as: Cell Rep. 2016 Jan 5; 14(1): 93–102. Published online 2015 Dec 24. doi: 10.1016/j.celrep.2015.12.012
PMCID:
PMC4904785
AbstractArticlePDF–577K
15.
IRX3/5 regulate mitotic chromatid segregation and limb bud shape
Hirotaka Tao, Jean-Philippe Lambert, Theodora M. Yung, Min Zhu, Noah A. Hahn, Danyi Li, Kimberly Lau, Kendra Sturgeon, Vijitha Puviindran, Xiaoyun Zhang, Wuming Gong, Xiao Xiao Chen, Gregory Anderson, Daniel J. Garry, R. Mark Henkelman, Yu Sun, Angelo Iulianella, Yasuhiko Kawakami, Anne-Claude Gingras, Chi-chung Hui, Sevan Hopyan
Development. 2020 Oct 1; 147(19): dev180042. Published online 2020 Oct 5. doi: 10.1242/dev.180042
PMCID:
PMC7561487
AbstractArticle
16.
Identification of FMRP target mRNAs in the developmental brain: FMRP might coordinate Ras/MAPK, Wnt/β-catenin, and mTOR signaling during corticogenesis
Cristine R. Casingal, Takako Kikkawa, Hitoshi Inada, Yukio Sasaki, Noriko Osumi
Mol Brain. 2020; 13: 167. Published online 2020 Dec 16. doi: 10.1186/s13041-020-00706-1
PMCID:
PMC7739466
AbstractArticlePDF–1.5M
17.
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
18.
Conditional Creation and Rescue of Nipbl-Deficiency in Mice Reveals Multiple Determinants of Risk for Congenital Heart Defects
Rosaysela Santos, Shimako Kawauchi, Russell E. Jacobs, Martha E. Lopez-Burks, Hojae Choi, Jamie Wikenheiser, Benedikt Hallgrimsson, Heather A. Jamniczky, Scott E. Fraser, Arthur D. Lander, Anne L. Calof
PLoS Biol. 2016 Sep; 14(9): e2000197. Published online 2016 Sep 8. doi: 10.1371/journal.pbio.2000197
PMCID:
PMC5016002
AbstractArticlePDF–20M
19.
Nipbl and Mediator Cooperatively Regulate Gene Expression to Control Limb Development
Akihiko Muto, Shingo Ikeda, Martha E. Lopez-Burks, Yutaka Kikuchi, Anne L. Calof, Arthur D. Lander, Thomas F. Schilling
PLoS Genet. 2014 Sep; 10(9): e1004671. Published online 2014 Sep 25. doi: 10.1371/journal.pgen.1004671
PMCID:
PMC4177752
AbstractArticlePDF–2.1M
20.
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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