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Select item 108766291.

Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features

Morad Ansari, Kamli N.W. Faour, Akiko Shimamura, Graeme Grimes, Emeline M. Kao, Erica R. Denhoff, Ana Blatnik, Daniel Ben-Isvy, Lily Wang, Benjamin M. Helm, Helen Firth, Amy M. Breman, Emilia K. Bijlsma, Aiko Iwata-Otsubo, Thomy J.L. de Ravel, Vincent Fusaro, Alan Fryer, Keith Nykamp, Lara G. Stühn, Tobias B. Haack, G. Christoph Korenke, Panayiotis Constantinou, Kinga M. Bujakowska, Karen J. Low, Emily Place, Jennifer Humberson, Melanie P. Napier, Jessica Hoffman, Jane Juusola, Matthew A. Deardorff, Wanqing Shao, Shira Rockowitz, Ian Krantz, Maninder Kaur, Sarah Raible, Victoria Dortenzio, Sabine Kliesch, Moriel Singer-Berk, Emily Groopman, Stephanie DiTroia, Sonia Ballal, Siddharth Srivastava, Kathrin Rothfelder, Saskia Biskup, Jessica Rzasa, Jennifer Kerkhof, Haley McConkey, Bekim Sadikovic, Sarah Hilton, Siddharth Banka, Frank Tüttelmann, Donald F. Conrad, Anne O’Donnell-Luria, Michael E. Talkowski, David R. FitzPatrick, Philip M. Boone

HGG Adv. 2024 Apr 11; 5(2): 100273. Published online 2024 Jan 30. doi: 10.1016/j.xhgg.2024.100273

PMCID:: PMC10876629

Article PDF–3.1M

Select item 12422492.

Global gene expression profiling of cells overexpressing SMC3

Giancarlo Ghiselli, Chang-Gong Liu

Mol Cancer. 2005; 4: 34. Published online 2005 Sep 12. doi: 10.1186/1476-4598-4-34

PMCID:: PMC1242249

Article PDF–1.4M

Select item 106856073.

RIT1 regulates mitosis and promotes proliferation by interacting with SMC3 and PDS5 in hepatocellular carcinoma

Yang Su, Hechun Lin, Junming Yu, Lin Mao, Wenjiao Jin, Tengfei Liu, Shuqing Jiang, Yunyu Wu, Saihua Zhang, Qin Geng, Chao Ge, Fangyu Zhao, Taoyang Chen, Ying Cui, Jinjun Li, Helei Hou, Xinli Zhou, Hong Li

J Exp Clin Cancer Res. 2023; 42: 326. Published online 2023 Nov 29. doi: 10.1186/s13046-023-02892-x

PMCID:: PMC10685607

Article PDF–14M

Select item 94911064.

The proteoglycan bamacan is a host cellular ligand of vaccinia virus neurovirulence factor N1L

Ketha VK Mohan, Cheryl X Zhang, Chintamani D Atreya

J Neurovirol. 2009; 15(3): 229–237. Published online 2009 Aug 13. doi: 10.1080/13550280902913636

PMCID:: PMC9491106

Article PDF–356K

Select item 92829255.

Stepwise GATA1 and SMC3 mutations alter megakaryocyte differentiation in a Down syndrome leukemia model

Brahim Arkoun, Elie Robert, Fabien Boudia, Stefania Mazzi, Virginie Dufour, Aurélie Siret, Yasmine Mammasse, Zakia Aid, Matthieu Vieira, Aygun Imanci, Marine Aglave, Marie Cambot, Rachel Petermann, Sylvie Souquere, Philippe Rameau, Cyril Catelain, Romain Diot, Gérard Tachdjian, Olivier Hermine, Nathalie Droin, Najet Debili, Isabelle Plo, Sébastien Malinge, Eric Soler, Hana Raslova, Thomas Mercher, William Vainchenker

J Clin Invest. 2022 Jul 15; 132(14): e156290. Published online 2022 Jul 15. doi: 10.1172/JCI156290

PMCID:: PMC9282925

Article PDF–4.5M

Select item 49334396.

HDAC8 Inhibition Blocks SMC3 Deacetylation and Delays Cell Cycle Progression without Affecting Cohesin-dependent Transcription in MCF7 Cancer Cells

Tanushree Dasgupta, Jisha Antony, Antony W. Braithwaite, Julia A. Horsfield

J Biol Chem. 2016 Jun 10; 291(24): 12761–12770. Published online 2016 Apr 12. doi: 10.1074/jbc.M115.704627

PMCID:: PMC4933439

Article PDF–4.4M

Select item 36804587.

Imbalance of SMC1 and SMC3 Cohesins Causes Specific and Distinct Effects

Magdalena Laugsch, Jochen Seebach, Hans Schnittler, Rolf Jessberger

PLoS One. 2013; 8(6): e65149. Published online 2013 Jun 12. doi: 10.1371/journal.pone.0065149

PMCID:: PMC3680458

Article PDF–9.3M

Select item 27221908.

Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA

Ekaterina Revenkova, Maria Luisa Focarelli, Lucia Susani, Marianna Paulis, Maria Teresa Bassi, Linda Mannini, Annalisa Frattini, Domenico Delia, Ian Krantz, Paolo Vezzoni, Rolf Jessberger, Antonio Musio

Hum Mol Genet. 2009 Feb 1; 18(3): 418–427. Published online 2008 Nov 7. doi: 10.1093/hmg/ddn369

PMCID:: PMC2722190

Article PDF–838K

Select item 24436639.

Regulation of Intra-S Phase Checkpoint by Ionizing Radiation (IR)-dependent and IR-independent Phosphorylation of SMC3

Hao Luo, Yehua Li, Jung-Jung Mu, Jinglan Zhang, Toru Tonaka, Yasuo Hamamori, Sung Yun Jung, Yi Wang, Jun Qin

J Biol Chem. 2008 Jul 11; 283(28): 19176–19183. doi: 10.1074/jbc.M802299200

PMCID:: PMC2443663

Article PDF–268K

Select item 182110110.

Mutations in Cohesin Complex Members SMC3 and SMC1A Cause a Mild Variant of Cornelia de Lange Syndrome with Predominant Mental Retardation

Matthew A. Deardorff, Maninder Kaur, Dinah Yaeger, Abhinav Rampuria, Sergey Korolev, Juan Pie, Concepcion Gil-Rodríguez, María Arnedo, Bart Loeys, Antonie D. Kline, Meredith Wilson, Kaj Lillquist, Victoria Siu, Feliciano J. Ramos, Antonio Musio, Laird S. Jackson, Dale Dorsett, Ian D. Krantz

Am J Hum Genet. 2007 Mar; 80(3): 485–494. Published online 2007 Jan 17. doi: 10.1086/511888

PMCID:: PMC1821101

Article PDF–4.1M

Select item 54789911.

Hinderin, a five-domains protein including coiled-coil motifs that binds to SMC3

Chirag A Patel, Giancarlo Ghiselli

BMC Cell Biol. 2005; 6: 3. Published online 2005 Jan 18. doi: 10.1186/1471-2121-6-3

PMCID:: PMC547899

Article PDF–396K

Select item 581517612.

Clinical and genetic study of 20 patients from China with Cornelia de Lange syndrome

Mingyan Hei, Xiangyu Gao, Lingqian Wu

BMC Pediatr. 2018; 18: 64. Published online 2018 Feb 16. doi: 10.1186/s12887-018-1004-3

PMCID:: PMC5815176

Article PDF–547K

Select item 416210813.

Genetic alterations of the cohesin complex genes in myeloid malignancies

Swapna Thota, Aaron D. Viny, Hideki Makishima, Barbara Spitzer, Tomas Radivoyevitch, Bartlomiej Przychodzen, Mikkael A. Sekeres, Ross L. Levine, Jaroslaw P. Maciejewski

Blood. 2014 Sep 11; 124(11): 1790–1798. Prepublished online 2014 Jul 8. doi: 10.1182/blood-2014-04-567057

PMCID:: PMC4162108

Article

Select item 355198114.

Congenital Heart Disease in Cornelia de Lange Syndrome: Phenotype and Genotype Analysis

Kathryn C. Chatfield, Samantha A. Schrier, Jennifer Li, Dinah Clark, Maninder Kaur, Antonie D. Kline, Matthew A. Deardorff, Laird S. Jackson, Elizabeth Goldmuntz, Ian D. Krantz

Am J Med Genet A. Author manuscript; available in PMC 2013 Jan 22.

Published in final edited form as: Am J Med Genet A. 2012 Oct; 158A(10): 2499–2505. Published online 2012 Sep 10. doi: 10.1002/ajmg.a.35582

PMCID:: PMC3551981

Article PDF–220K

Select item 351943015.

Proteomic Profile Identifies Dysregulated Pathways in Cornelia de Lange Syndrome Cells With Distinct Mutations in SMC1A and SMC3 Genes

Anna Gimigliano, Linda Mannini, Laura Bianchi, Michele Puglia, Matthew A. Deardorff, Stefania Menga, Ian D Krantz, Antonio Musio, Luca Bini

J Proteome Res. Author manuscript; available in PMC 2013 Dec 7.

Published in final edited form as: J Proteome Res. 2012 Dec 7; 11(12): 6111–6123. Published online 2012 Nov 5. doi: 10.1021/pr300760p

PMCID:: PMC3519430

Article PDF–1.5M

Select item 292342916.

Mutations and Variants in the Cohesion factor genes NIPBL, SMC1A and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange Syndrome

Juan Pié, María Concepción Gil-Rodríguez, Milagros Ciero, Eduardo López-Viñas, María Pilar Ribate, María Arnedo, Matthew A. Deardorff, Beatriz Puisac, Jesús Legarreta, Juan Carlos de Karam, Encarnación Rubio, Inés Bueno, Antonio Baldellou, Mª Teresa Calvo, Nuria Casals, José Luis Olivares, Ana Losada, Fausto G. Hegardt, Ian D. Krantz, Paulino Gómez-Puertas, Feliciano J. Ramos

Am J Med Genet A. Author manuscript; available in PMC 2011 Apr 1.

Published in final edited form as: Am J Med Genet A. 2010 Apr; 152A(4): 924–929. doi: 10.1002/ajmg.a.33348

PMCID:: PMC2923429

Article PDF–409K

Select item 281102517.

Cohesin promotes the repair of ionizing radiation-induced DNA double-strand breaks in replicated chromatin

Christina Bauerschmidt, Cecilia Arrichiello, Susanne Burdak-Rothkamm, Michael Woodcock, Mark A. Hill, David L. Stevens, Kai Rothkamm

Nucleic Acids Res. 2010 Jan; 38(2): 477–487. Published online 2009 Nov 11. doi: 10.1093/nar/gkp976

PMCID:: PMC2811025

Article PDF–4.1M

Select item 1046330718.

SMC3 epigenetic silencing regulates Rab27a expression and drives pancreatic cancer progression

Nuno Bastos, Stéphanie A. Castaldo, Bárbara Adem, José C. Machado, Carlos A. Melo, Sonia A. Melo

J Transl Med. 2023; 21: 578. Published online 2023 Aug 28. doi: 10.1186/s12967-023-04448-1

PMCID:: PMC10463307

Article PDF–1.8M

Select item 849071319.

Cohesin Core Complex Gene Dosage Contributes to Germinal Center Derived Lymphoma Phenotypes and Outcomes

Martin A. Rivas, Ceyda Durmaz, Andreas Kloetgen, Cristopher R. Chin, Zhengming Chen, Bhavneet Bhinder, Amnon Koren, Aaron D. Viny, Christopher D. Scharer, Jeremy M. Boss, Olivier Elemento, Christopher E. Mason, Ari M. Melnick

Front Immunol. 2021; 12: 688493. Published online 2021 Sep 21. doi: 10.3389/fimmu.2021.688493

PMCID:: PMC8490713

Article PDF–3.5M

Select item 273869820.

The cohesin complex is required for the DNA damage-induced G2/M checkpoint in mammalian cells

Erwan Watrin, Jan-Michael Peters

EMBO J. 2009 Sep 2; 28(17): 2625–2635. Published online 2009 Jul 23. doi: 10.1038/emboj.2009.202

PMCID:: PMC2738698

Article PDF–1.6M

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