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Items: 1 to 20 of 129

1.
Cornelia de Lange syndrome mutations in NIPBL can impair cohesin-mediated DNA loop extrusion
Melanie Panarotto, Iain F. Davidson, Gabriele Litos, Alexander Schleiffer, Jan-Michael Peters
Proc Natl Acad Sci U S A. 2022 May 3; 119(18): e2201029119. Published online 2022 Apr 27. doi: 10.1073/pnas.2201029119
PMCID:
PMC9170158
AbstractArticlePDF–949K
2.
A Novel de Novo Variant in 5′ UTR of the NIPBL Associated with Cornelia de Lange Syndrome
Yonghua Chen, Qingqing Chen, Ke Yuan, Jianfang Zhu, Yanlan Fang, Qingfeng Yan, Chunlin Wang
Genes (Basel) 2022 May; 13(5): 740. Published online 2022 Apr 22. doi: 10.3390/genes13050740
PMCID:
PMC9140414
AbstractArticlePDF–2.5M
3.
The glucocorticoid receptor associates with the cohesin loader NIPBL to promote long-range gene regulation
Lorenzo Rinaldi, Gregory Fettweis, Sohyoung Kim, David A. Garcia, Saori Fujiwara, Thomas A. Johnson, Theophilus T. Tettey, Laurent Ozbun, Gianluca Pegoraro, Michele Puglia, Blagoy Blagoev, Arpita Upadhyaya, Diana A. Stavreva, Gordon L. Hager
Sci Adv. 2022 Apr; 8(13): eabj8360. Published online 2022 Mar 30. doi: 10.1126/sciadv.abj8360
PMCID:
PMC8967222
AbstractArticlePDF–2.1M
4.
Cohesin mediates DNA loop extrusion by a “swing and clamp” mechanism
Benedikt W. Bauer, Iain F. Davidson, Daniel Canena, Gordana Wutz, Wen Tang, Gabriele Litos, Sabrina Horn, Peter Hinterdorfer, Jan-Michael Peters
Cell. 2021 Oct 14; 184(21): 5448–5464.e22. doi: 10.1016/j.cell.2021.09.016
PMCID:
PMC8563363
AbstractArticle
5.
Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood
Ana Latorre-Pellicer, Marta Gil-Salvador, Ilaria Parenti, Cristina Lucia-Campos, Laura Trujillano, Iñigo Marcos-Alcalde, María Arnedo, Ángela Ascaso, Ariadna Ayerza-Casas, Rebeca Antoñanzas-Pérez, Cristina Gervasini, Maria Piccione, Milena Mariani, Axel Weber, Deniz Kanber, Alma Kuechler, Martin Munteanu, Katharina Khuller, Gloria Bueno-Lozano, Beatriz Puisac, Paulino Gómez-Puertas, Angelo Selicorni, Frank J. Kaiser, Feliciano J. Ramos, Juan Pié
Sci Rep. 2021; 11: 15459. Published online 2021 Jul 29. doi: 10.1038/s41598-021-94958-z
PMCID:
PMC8322329
AbstractArticlePDF–3.1M
6.
Disruption of NIPBL/Scc2 in Cornelia de Lange Syndrome provokes cohesin genome-wide redistribution with an impact in the transcriptome
Patricia Garcia, Rita Fernandez-Hernandez, Ana Cuadrado, Ignacio Coca, Antonio Gomez, Maria Maqueda, Ana Latorre-Pellicer, Beatriz Puisac, Feliciano J. Ramos, Juan Sandoval, Manel Esteller, Jose Luis Mosquera, Jairo Rodriguez, J. Pié, Ana Losada, Ethel Queralt
Nat Commun. 2021; 12: 4551. Published online 2021 Jul 27. doi: 10.1038/s41467-021-24808-z
PMCID:
PMC8316422
AbstractArticlePDF–3.4M
7.
Cornelia de Lange syndrome-associated mutations cause a DNA damage signalling and repair defect
Gabrielle Olley, Madapura M. Pradeepa, Graeme R. Grimes, Sandra Piquet, Sophie E. Polo, David R. FitzPatrick, Wendy A. Bickmore, Charlene Boumendil
Nat Commun. 2021; 12: 3127. Published online 2021 May 25. doi: 10.1038/s41467-021-23500-6
PMCID:
PMC8149872
AbstractArticlePDF–3.1M
8.
Whole genome sequencing reveals complex chromosome rearrangement disrupting NIPBL in infant with Cornelia de Lange syndrome
Morasha Plesser Duvdevani, Maria Pettersson, Jesper Eisfeldt, Ortal Avraham, Judith Dagan, Ayala Frumkin, James R. Lupski, Anna Lindstrand, Tamar Harel
Am J Med Genet A. Author manuscript; available in PMC 2020 Sep 20.
Published in final edited form as: Am J Med Genet A. 2020 May; 182(5): 1143–1151. Published online 2020 Mar 3. doi: 10.1002/ajmg.a.61539
PMCID:
PMC7502196
AbstractArticlePDF–608K
9.
Cohesin-dependent regulation of gene expression during differentiation is lost in cohesin-mutated myeloid malignancies
Daniel Sasca, Haiyang Yun, George Giotopoulos, Jakub Szybinski, Theo Evan, Nicola K. Wilson, Moritz Gerstung, Paolo Gallipoli, Anthony R. Green, Robert Hills, Nigel Russell, Cameron S. Osborne, Elli Papaemmanuil, Berthold Göttgens, Peter Campbell, Brian J. P. Huntly
Blood. 2019 Dec 12; 134(24): 2195–2208. Prepublished online 2019 Sep 12. doi: 10.1182/blood.2019001553
PMCID:
PMC7484777
AbstractArticle
10.
De novo NIPBL Mutations in Vietnamese Patients with Cornelia de Lange Syndrome
Duong Chi Thanh, Can Thi Bich Ngoc, Ngoc-Lan Nguyen, Chi Dung Vu, Nguyen Van Tung, Huy Hoang Nguyen
Medicina (Kaunas) 2020 Feb; 56(2): 76. Published online 2020 Feb 14. doi: 10.3390/medicina56020076
PMCID:
PMC7073647
AbstractArticlePDF–3.3M
11.
A report of 2 cases of Cornelia de Lange syndrome (CdLS) and an analysis of clinical and genetic characteristics in a Chinese CdLS cohort
Shuo Li, Hui Miao, Hongbo Yang, Linjie Wang, Fengying Gong, Shi Chen, Huijuan Zhu, Hui Pan
Mol Genet Genomic Med. 2020 Feb; 8(2): e1066. Published online 2019 Dec 24. doi: 10.1002/mgg3.1066
Correction in:
Mol Genet Genomic Med. 2020 Apr; 8(4): e1225.
PMCID:
PMC7005613
AbstractArticlePDF–2.2M
12.
Molecular characterization of two novel intronic variants of NIPBL gene detected in unrelated Cornelia de Lange syndrome patients
Natalia Krawczynska, Jolanta Wierzba, Jacek Jasiecki, Bartosz Wasag
BMC Med Genet. 2019; 20: 1. Published online 2019 Jan 3. doi: 10.1186/s12881-018-0738-y
PMCID:
PMC6318863
AbstractArticlePDF–819K
13.
NIPBL+/− haploinsufficiency reveals a constellation of transcriptome disruptions in the pluripotent and cardiac states
Jason A. Mills, Pamela S Herrera, Maninder Kaur, Lanfranco Leo, Deborah McEldrew, Jesus A Tintos-Hernandez, Ramakrishnan Rajagopalan, Alyssa Gagne, Zhe Zhang, Xilma R. Ortiz-Gonzalez, Ian D. Krantz
Sci Rep. 2018; 8: 1056. Published online 2018 Jan 18. doi: 10.1038/s41598-018-19173-9
PMCID:
PMC5773608
AbstractArticlePDF–6.6M
14.
Downregulation of Cohesin Loading Factor Nipped-B-Like Protein (NIPBL) Induces Cell Cycle Arrest, Apoptosis, and Autophagy of Breast Cancer Cell Lines
Huanhuan Zhou, Lei Zheng, Kongbeng Lu, Yun Gao, Liwei Guo, Weizhen Xu, Xiaojia Wang
Med Sci Monit. 2017; 23: 4817–4825. Published online 2017 Oct 7. doi: 10.12659/MSM.906583
PMCID:
PMC5642644
AbstractArticlePDF–3.1M
15.
Scc2/Nipbl hops between chromosomal cohesin rings after loading
James Rhodes, Davide Mazza, Kim Nasmyth, Stephan Uphoff
eLife. 2017; 6: e30000. Published online 2017 Sep 15. doi: 10.7554/eLife.30000
PMCID:
PMC5621834
AbstractArticlePDF–3.3M
16.
mRNA Quantification of NIPBL Isoforms A and B in Adult and Fetal Human Tissues, and a Potentially Pathological Variant Affecting Only Isoform A in Two Patients with Cornelia de Lange Syndrome
Beatriz Puisac, María-Esperanza Teresa-Rodrigo, María Hernández-Marcos, Carolina Baquero-Montoya, María-Concepción Gil-Rodríguez, Torkild Visnes, Christopher Bot, Paulino Gómez-Puertas, Frank J. Kaiser, Feliciano J. Ramos, Lena Ström, Juan Pié
Int J Mol Sci. 2017 Mar; 18(3): 481. Published online 2017 Feb 23. doi: 10.3390/ijms18030481
PMCID:
PMC5372497
AbstractArticlePDF–3.0M
17.
Identification and Functional Characterization of Two Intronic NIPBL Mutations in Two Patients with Cornelia de Lange Syndrome
María E. Teresa-Rodrigo, Juliane Eckhold, Beatriz Puisac, Jelena Pozojevic, Ilaria Parenti, Carolina Baquero-Montoya, María C. Gil-Rodríguez, Diana Braunholz, Andreas Dalski, María Hernández-Marcos, Ariadna Ayerza, María L. Bernal, Feliciano J. Ramos, Dagmar Wieczorek, Gabriele Gillessen-Kaesbach, Juan Pié, Frank J. Kaiser
Biomed Res Int. 2016; 2016: 8742939. Published online 2016 Jan 26. doi: 10.1155/2016/8742939
PMCID:
PMC4746300
AbstractArticlePDF–1.9M
18.
Enhanced expression of cohesin loading factor NIPBL confers poor prognosis and chemotherapy resistance in non-small cell lung cancer
Weizhen Xu, Yinyin Ying, Lihong Shan, Jianguo Feng, Shengjie Zhang, Yun Gao, Xiaoling Xu, Yinli Yao, Chihong Zhu, Weimin Mao
J Transl Med. 2015; 13: 153. Published online 2015 May 12. doi: 10.1186/s12967-015-0503-3
PMCID:
PMC4438579
AbstractArticlePDF–3.6M
19.
Functional Characterization of NIPBL Physiological Splice Variants and Eight Splicing Mutations in Patients with Cornelia de Lange Syndrome
María E. Teresa-Rodrigo, Juliane Eckhold, Beatriz Puisac, Andreas Dalski, María C. Gil-Rodríguez, Diana Braunholz, Carolina Baquero, María Hernández-Marcos, Juan C. de Karam, Milagros Ciero, Fernando Santos-Simarro, Pablo Lapunzina, Jolanta Wierzba, César H. Casale, Feliciano J. Ramos, Gabriele Gillessen-Kaesbach, Frank J. Kaiser, Juan Pié
Int J Mol Sci. 2014 Jun; 15(6): 10350–10364. Published online 2014 Jun 10. doi: 10.3390/ijms150610350
PMCID:
PMC4100155
AbstractArticlePDF–919K
20.
A Cohesin-Independent Role for NIPBL at Promoters Provides Insights in CdLS
Jessica Zuin, Vedran Franke, Wilfred F. J. van IJcken, Antoine van der Sloot, Ian D. Krantz, Michael I. J. A. van der Reijden, Ryuichiro Nakato, Boris Lenhard, Kerstin S. Wendt
PLoS Genet. 2014 Feb; 10(2): e1004153. Published online 2014 Feb 13. doi: 10.1371/journal.pgen.1004153
PMCID:
PMC3923681
AbstractArticlePDF–4.8M

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