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Cornelia de Lange syndrome: further delineation of phenotype, cohesin biology and educational focus, 5th Biennial Scientific and Educational Symposium abstracts.
Kline AD, Calof AL, Schaaf CA, Krantz ID, Jyonouchi S, Yokomori K, Gauze M, Carrico CS, Woodman J, Gerton JL, Vega H, Levin AV, Shirahige K, Champion M, Goodban MT, O'Connor JT, Pipan M, Horsfield J, Deardorff MA, Ishman SL, Dorsett D. Kline AD, et al. Among authors: horsfield j. Am J Med Genet A. 2014 Jun;164A(6):1384-93. doi: 10.1002/ajmg.a.36417. Epub 2014 Feb 6. Am J Med Genet A. 2014. PMID: 24504889
Cornelia de Lange syndrome and molecular implications of the cohesin complex: Abstracts from the 7th biennial scientific and educational symposium 2016.
Kline AD, Krantz ID, Deardorff MA, Shirahige K, Dorsett D, Gerton JL, Wu M, Mehta D, Mills JA, Carrico CS, Noon S, Herrera PS, Horsfield JA, Bettale C, Morgan J, Huisman SA, Moss J, McCleery J, Grados M, Hansen BD, Srivastava S, Taylor-Snell E, Kerr LM, Katz O, Calof AL, Musio A, Egense A, Haaland RE. Kline AD, et al. Among authors: horsfield ja. Am J Med Genet A. 2017 May;173(5):1172-1185. doi: 10.1002/ajmg.a.38161. Epub 2017 Feb 12. Am J Med Genet A. 2017. PMID: 28190301 Free PMC article.
Cornelia de Lange syndrome, related disorders, and the Cohesin complex: Abstracts from the 8th biennial scientific and educational symposium 2018.
Kline AD, Krantz ID, Bando M, Shirahige K, Chea S, Sakata T, Rao S, Dorsett D, Singh VP, Gerton JL, Horsfield JA, Calof AL, Katz O, Grados M, Raible S, Barañano K, Lyon G, Musio A, Carrico CS, Clemens DK, Caudill P, Massa V, McGill BE, Dommestrup A, O'Connor J, Haaland RE. Kline AD, et al. Among authors: horsfield ja. Am J Med Genet A. 2019 Jun;179(6):1080-1090. doi: 10.1002/ajmg.a.61108. Epub 2019 Mar 15. Am J Med Genet A. 2019. PMID: 30874362 Free PMC article.
RAD21 mutations cause a human cohesinopathy.
Deardorff MA, Wilde JJ, Albrecht M, Dickinson E, Tennstedt S, Braunholz D, Mönnich M, Yan Y, Xu W, Gil-Rodríguez MC, Clark D, Hakonarson H, Halbach S, Michelis LD, Rampuria A, Rossier E, Spranger S, Van Maldergem L, Lynch SA, Gillessen-Kaesbach G, Lüdecke HJ, Ramsay RG, McKay MJ, Krantz ID, Xu H, Horsfield JA, Kaiser FJ. Deardorff MA, et al. Among authors: horsfield ja. Am J Hum Genet. 2012 Jun 8;90(6):1014-27. doi: 10.1016/j.ajhg.2012.04.019. Epub 2012 May 24. Am J Hum Genet. 2012. PMID: 22633399 Free PMC article.
Positive regulation of c-Myc by cohesin is direct, and evolutionarily conserved.
Rhodes JM, Bentley FK, Print CG, Dorsett D, Misulovin Z, Dickinson EJ, Crosier KE, Crosier PS, Horsfield JA. Rhodes JM, et al. Among authors: horsfield ja. Dev Biol. 2010 Aug 15;344(2):637-49. doi: 10.1016/j.ydbio.2010.05.493. Epub 2010 May 27. Dev Biol. 2010. PMID: 20553708 Free PMC article.
Cohesin facilitates zygotic genome activation in zebrafish.
Meier M, Grant J, Dowdle A, Thomas A, Gerton J, Collas P, O'Sullivan JM, Horsfield JA. Meier M, et al. Among authors: horsfield ja. Development. 2018 Jan 3;145(1):dev156521. doi: 10.1242/dev.156521. Development. 2018. PMID: 29158440
Cohesin mutations are synthetic lethal with stimulation of WNT signaling.
Chin CV, Antony J, Ketharnathan S, Labudina A, Gimenez G, Parsons KM, He J, George AJ, Pallotta MM, Musio A, Braithwaite A, Guilford P, Hannan RD, Horsfield JA. Chin CV, et al. Among authors: horsfield ja. Elife. 2020 Dec 7;9:e61405. doi: 10.7554/eLife.61405. Elife. 2020. PMID: 33284104 Free PMC article.
Cohesin Mutations in Cancer: Emerging Therapeutic Targets.
Antony J, Chin CV, Horsfield JA. Antony J, et al. Among authors: horsfield ja. Int J Mol Sci. 2021 Jun 24;22(13):6788. doi: 10.3390/ijms22136788. Int J Mol Sci. 2021. PMID: 34202641 Free PMC article. Review.
68 results