검색결과 : 4건
| No. | Article |
|---|---|
| 1 |
Functional Characterization of NIPBL Physiological Splice Variants and Eight Splicing Mutations in Patients with Cornelia de Lange Syndrome Teresa-Rodrigo ME, Eckhold J, Puisac B, Dalski A, Gil-Rodriguez MC, Braunholz D, Baquero C, Hernandez-Marcos M, de Karam JC, Ciero M, Santos-Simarro F, Lapunzina P, Wierzba J, Casale CH, Ramos FJ, Gillessen-Kaesbach G, Kaiser FJ, Pie J International Journal of Molecular Sciences, 15(6), 10350, 2014 |
| 2 |
Dysfunctional nitric oxide signalling increases risk of myocardial infarction Erdmann J, Stark K, Esslinger UB, Rumpf PM, Koesling D, de Wit C, Kaiser FJ, Braunholz D, Medack A, Fischer M, Zimmermann ME, Tennstedt S, Graf E, Eck S, Aherrahrou Z, Nahrstaedt J, Willenborg C, Bruse P, Braenne I, Nothen MM, Hofmann P, Braund PS, Mergia E, Reinhard W, Burgdorf C, Schreiber S, Balmforth AJ, Hall AS, Bertram L, Steinhagen-Thiessen E, Li SC, Marz W, Reilly M, Kathiresan S, McPherson R, Walter U, Ott J, Samani NJ, Strom TM, Meitinger T, Hengstenberg C, Schunkert H Nature, 504(7480), 432, 2013 |
| 3 |
HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle Deardorff MA, Bando M, Nakato R, Watrin E, Itoh T, Minamino M, Saitoh K, Komata M, Katou Y, Clark D, Cole KE, De Baere E, Decroos C, Di Donato N, Ernst S, Francey LJ, Gyftodimou Y, Hirashima K, Hullings M, Ishikawa Y, Jaulin C, Kaur M, Kiyono T, Lombardi PM, Magnaghi-Jaulin L, Mortier GR, Nozaki N, Petersen MB, Seimiya H, Siu VM, Suzuki Y, Takagaki K, Wilde JJ, Willems PJ, Prigent C, Gillessen-Kaesbach G, Christianson DW, Kaiser FJ, Jackson LG, Hirota T, Krantz ID, Shirahige K Nature, 489(7415), 313, 2012 |
| 4 |
Synergistic cooperation of Sall4 and Cyclin D1 in transcriptional repression Bohm J, Kaiser FJ, Borozdin W, Depping R, Kohlhase J Biochemical and Biophysical Research Communications, 356(3), 773, 2007 |