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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: yokomori k. 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
Clinical, developmental and molecular update on Cornelia de Lange syndrome and the cohesin complex: abstracts from the 2014 Scientific and Educational Symposium.
Kline AD, Calof AL, Lander AD, Gerton JL, Krantz ID, Dorsett D, Deardorff MA, Blagowidow N, Yokomori K, Shirahige K, Santos R, Woodman J, Megee PC, O'Connor JT, Egense A, Noon S, Belote M, Goodban MT, Hansen BD, Timmons JG, Musio A, Ishman SL, Bryan Y, Wu Y, Bettini LR, Mehta D, Zakari M, Mills JA, Srivastava S, Haaland RE. Kline AD, et al. Among authors: yokomori k. Am J Med Genet A. 2015 Jun;167(6):1179-92. doi: 10.1002/ajmg.a.37056. Epub 2015 Apr 21. Am J Med Genet A. 2015. PMID: 25899772
The effect of Nipped-B-like (Nipbl) haploinsufficiency on genome-wide cohesin binding and target gene expression: modeling Cornelia de Lange syndrome.
Newkirk DA, Chen YY, Chien R, Zeng W, Biesinger J, Flowers E, Kawauchi S, Santos R, Calof AL, Lander AD, Xie X, Yokomori K. Newkirk DA, et al. Among authors: yokomori k. Clin Epigenetics. 2017 Aug 25;9:89. doi: 10.1186/s13148-017-0391-x. eCollection 2017. Clin Epigenetics. 2017. PMID: 28855971 Free PMC article.
Multiple organ system defects and transcriptional dysregulation in the Nipbl(+/-) mouse, a model of Cornelia de Lange Syndrome.
Kawauchi S, Calof AL, Santos R, Lopez-Burks ME, Young CM, Hoang MP, Chua A, Lao T, Lechner MS, Daniel JA, Nussenzweig A, Kitzes L, Yokomori K, Hallgrimsson B, Lander AD. Kawauchi S, et al. Among authors: yokomori k. PLoS Genet. 2009 Sep;5(9):e1000650. doi: 10.1371/journal.pgen.1000650. Epub 2009 Sep 18. PLoS Genet. 2009. PMID: 19763162 Free PMC article.
Cohesin mediates chromatin interactions that regulate mammalian β-globin expression.
Chien R, Zeng W, Kawauchi S, Bender MA, Santos R, Gregson HC, Schmiesing JA, Newkirk DA, Kong X, Ball AR Jr, Calof AL, Lander AD, Groudine MT, Yokomori K. Chien R, et al. Among authors: yokomori k. J Biol Chem. 2011 May 20;286(20):17870-8. doi: 10.1074/jbc.M110.207365. Epub 2011 Mar 29. J Biol Chem. 2011. PMID: 21454523 Free PMC article.
Specific loss of histone H3 lysine 9 trimethylation and HP1gamma/cohesin binding at D4Z4 repeats is associated with facioscapulohumeral dystrophy (FSHD).
Zeng W, de Greef JC, Chen YY, Chien R, Kong X, Gregson HC, Winokur ST, Pyle A, Robertson KD, Schmiesing JA, Kimonis VE, Balog J, Frants RR, Ball AR Jr, Lock LF, Donovan PJ, van der Maarel SM, Yokomori K. Zeng W, et al. Among authors: yokomori k. PLoS Genet. 2009 Jul;5(7):e1000559. doi: 10.1371/journal.pgen.1000559. Epub 2009 Jul 10. PLoS Genet. 2009. PMID: 19593370 Free PMC article.
HP1: heterochromatin binding proteins working the genome.
Zeng W, Ball AR Jr, Yokomori K. Zeng W, et al. Among authors: yokomori k. Epigenetics. 2010 May 16;5(4):287-92. doi: 10.4161/epi.5.4.11683. Epub 2010 May 3. Epigenetics. 2010. PMID: 20421743 Free PMC article. Review.
142 results