A p.D116G mutation in CREB1 leads to novel multiple malformation syndrome resembling<i>CrebA</i>knockout mouse
Tóm tắt
Từ khóa
Tài liệu tham khảo
Chariot, 1999, CBP and histone deacetylase inhibition enhance the transactivation potential of the HOXB7 homeodomain-containing protein, Oncogene, 18, 4007, 10.1038/sj.onc.1202776
Gervasini, 2007, High frequency of mosaic CREBBP deletions in Rubinstein-Taybi syndrome patients and mapping of somatic and germ-line breakpoints, Genomics, 90, 567, 10.1016/j.ygeno.2007.07.012
Gonzalez, 1989, Cyclic AMP stimulates somatostatin gene transcription by phosphorylation of CREB at serine 133, Cell, 59, 675, 10.1016/0092-8674(89)90013-5
Guion-Almeida, 1992, Callosal agenesis, iris coloboma, and megacolon in a Brazilian boy with Rubinstein-Taybi syndrome, Am J Med Genet, 43, 929, 10.1002/ajmg.1320430604
Kelley, 2009, Protein structure prediction on the Web: a case study using the Phyre server, Nat Protoc, 4, 363, 10.1038/nprot.2009.2
Kimura, 1993, Rubinstein-Taybi syndrome with thymic hypoplasia, Am J Med Genet, 46, 293, 10.1002/ajmg.1320460311
Li, 2007, CBP/p300 are bimodal regulators of Wnt signaling, EMBO J, 26, 2284, 10.1038/sj.emboj.7601667
Nguyen, 2000, A dominant negative CREB (cAMP response element-binding protein) isoform inhibits thyrocyte growth, thyroid-specific gene expression, differentiation, and function, Mol Endocrinol, 14, 1448, 10.1210/me.14.9.1448
Radhakrishnan, 1998, Conformational preferences in the Ser133-phosphorylated and non-phosphorylated forms of the kinase inducible transactivation domain of CREB, FEBS Lett, 430, 317, 10.1016/S0014-5793(98)00680-2
Roelfsema, 2007, Rubinstein-Taybi syndrome: clinical and molecular overview, Expert Rev Mol Med, 9, 1, 10.1017/S1462399407000415
Rudolph, 1998, Impaired fetal T cell development and perinatal lethality in mice lacking the cAMP response element binding protein, Proc Natl Acad Sci U S A, 95, 4481, 10.1073/pnas.95.8.4481
Sarkar, 2007, Dominant negative mutant forms of the cAMP response element binding protein induce apoptosis and decrease the anti-apoptotic action of growth factors in human islets, Diabetologia, 50, 1649, 10.1007/s00125-007-0707-z
Sharma, 2007, DNA binding and phosphorylation induce conformational alterations in the kinase-inducible domain of CREB. Implications for the mechanism of transcription function, J Biol Chem, 282, 19872, 10.1074/jbc.M701435200