Provider: Nature Publishing Group Content: application/x-research-info-systems TY - JOUR AU - Read, A.P. AU - Newton, V.E. TI - Waardenburg syndrome JO - J. Med. Genet. PY - 1997/// VL - 34 SP - 656 EP - 665 ER - TY - JOUR AU - Tachibana, M. TI - Ectopic expression of MITF, a gene for Waardenburg syndrome type 2, converts fibroblasts to cells with melanocyte characteristics JO - Nature Genet. PY - 1996/// VL - 14 SP - 50 EP - 54 ER - TY - JOUR AU - Tachibana, M. TI - Cochlear disorder associated with melanocyte anomaly in mice with a transgenic insertional mutation JO - Mol. Cell. Neurosci. PY - 1992/// VL - 3 SP - 433 EP - 445 ER - TY - JOUR AU - Tassabehji, M. AU - Newton, V.E. AU - Read, A.P. TI - Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene JO - Nature Genet. PY - 1994/// VL - 8 SP - 251 EP - 255 ER - TY - JOUR AU - Nobukuni, Y. AU - Watanabe, A. AU - Takeda, K. AU - Skarka, H. AU - Tachibana, M. TI - Analyses of loss-of-function mutations of the MITF gene suggest that haploinsufficiency is a cause of Waardenburg syndrome type 2A JO - Am. J. Hum. Genet. PY - 1996/// VL - 59 SP - 76 EP - 83 ER - TY - JOUR AU - Latchman, D.S. TI - Transcription-factor mutations and disease JO - N. Engl. J. Med. PY - 1996/// VL - 334 SP - 28 EP - 33 M3 - 10.1056/NEJM199601043340108 N1 - 10.1056/NEJM199601043340108 UR - http://dx.doi.org/10.1056/NEJM199601043340108 ER - TY - JOUR AU - Semenza, G.L. TI - Transcriptional regulation of gene expression: mechanisms and pathophysiology JO - Hum. Mutat. PY - 1994/// VL - 3 SP - 180 EP - 199 ER - TY - JOUR AU - Tassabehji, M. TI - Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene JO - Nature PY - 1992/// VL - 355 SP - 635 EP - 636 M3 - 10.1038/355635a0 N1 - 10.1038/355635a0 UR - http://dx.doi.org/10.1038/355635a0 ER - TY - JOUR AU - Baldwin, C.T. AU - Hoth, C.F. AU - Amos, J.A. AU - da-Silva, E.O. AU - Milunsky, A. TI - An exonic mutation in the Hup2 paired domain gene causes Waardenburg's syndrome JO - Nature PY - 1992/// VL - 355 SP - 637 EP - 638 M3 - 10.1038/355637a0 N1 - 10.1038/355637a0 UR - http://dx.doi.org/10.1038/355637a0 ER - TY - JOUR AU - Hoth, C.F. TI - Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I) JO - Am. J. Hum. Genet. PY - 1993/// VL - 52 SP - 455 EP - 462 ER - TY - JOUR AU - Lalwani, A.K. TI - Further elucidation of the genomic structure of PAX3, and identification of two different point mutations within the PAX3 homeobox that cause Waardenburg syndrome type I in two families JO - Am. J. Hum. Genet. PY - 1995/// VL - 56 SP - 75 EP - 83 ER - TY - JOUR AU - Tassabehji, M. TI - The mutational spectrum in Waardenburg syndrome JO - Hum. Mol. Genet. PY - 1995/// VL - 4 SP - 2131 EP - 2137 ER - TY - JOUR AU - Chalepakis, G. AU - Goulding, M. AU - Read, A. AU - Strachan, T. AU - Gruss, P. TI - Molecular basis of splotch and Waardenburg syndrome Pax-3 mutations JO - Proc. Natl. Acad. Sci. USA PY - 1994/// VL - 91 SP - 3685 EP - 3689 ER - TY - JOUR AU - Epstein, J.A. AU - Shapiro, D.N. AU - Chen, J. AU - Lam, P.Y.P. AU - Maas, R.L. TI - Pax3 modulates expression of the c-Met receptor during limb muscle development JO - Proc. Natl. Acad. Sci. USA PY - 1996/// VL - 93 SP - 4213 EP - 4218 M3 - 10.1073/pnas.93.9.4213 N1 - 10.1073/pnas.93.9.4213 UR - http://dx.doi.org/10.1073/pnas.93.9.4213 ER - TY - JOUR AU - Opdecamp, K. TI - Melanocyte development in vivo and in neural crest cell cultures: crucial dependence on the Mitf basic-helix-loop-helix-zipper transcription factor JO - Development PY - 1997/// VL - 124 SP - 2377 EP - 2386 ER - TY - JOUR AU - Fuse, N. AU - Yasumoto, K. AU - Suzuki, H. AU - Takahashi, K. AU - Shibahara, S. TI - Identification of a melanocyte-type promoter of the microphthalmia-associated transcription factor gene JO - Biochem. Biophys. Res. Comm. PY - 1996/// VL - 219 SP - 702 EP - 707 M3 - 10.1006/bbrc.1996.0298 N1 - 10.1006/bbrc.1996.0298 UR - http://dx.doi.org/10.1006/bbrc.1996.0298 ER - TY - JOUR AU - Chalepakis, G. AU - Wijnholds, J. AU - Gruss, P. TI - Pax-3-DNA interaction: flexibility in the DNA binding and induction of DNA conformational changes by paired domains JO - Nucleic Acids Res. PY - 1994/// VL - 22 SP - 3131 EP - 3137 ER - TY - JOUR AU - Guazzi, S. TI - The thyroid transcription factor-1 gene is a candidate target for regulation by Hox proteins JO - EMBO J. PY - 1994/// VL - 13 SP - 3339 EP - 3347 ER - TY - JOUR AU - Macina, R.A. AU - Barr, F.G. AU - Galili, N. AU - Riethman, H.C. TI - Genomic organization of the human PAX3 gene: DNA sequence analysis of the region disrupted in alveolar rhabdomyosarcoma JO - Genomics PY - 1995/// VL - 26 SP - 1 EP - 8 M3 - 10.1016/0888-7543(95)80076-X N1 - 10.1016/0888-7543(95)80076-X UR - http://dx.doi.org/10.1016/0888-7543(95)80076-X ER - TY - JOUR AU - Schreiber, E. AU - Matthias, P. AU - Muller, M.M. AU - Schaffner, W. TI - Rapid detection of octamer binding proteins with `mini-extracts', prepared from a small number of cells JO - Nucleic Acids Res. PY - 1989/// VL - 17 SP - EP - 6419 ER - TY - JOUR AU - Fredericks, W.J. TI - The PAX3-FKHR fusion protein created by the t(2;13) translocation in alveolar rhabdomyosarcomas is a more potent transcriptional activator than PAX3 JO - Mol. Cell. Biol. PY - 1995/// VL - 15 SP - 1522 EP - 1535 ER - TY - JOUR AU - Jones, D.H. AU - Howard, B.H. TI - A rapid method for the site-specific mutagenesis and directional subcloning by using the polymerase chain reaction to generate recombinant circles JO - BioTechniques PY - 1990/// VL - 8 SP - 178 EP - 183 ER - TY - JOUR AU - Kamachi, Y. AU - Kondoh, H. TI - Overlapping positive and negative regulatory elements determine lens-specific activity of the [delta]1-crystallin enhancer JO - Mol. Cell. Biol. PY - 1993/// VL - 13 SP - 5206 EP - 5215 ER - TY - JOUR AU - Miki, T. TI - Development of a highly efficient expression cDNA cloning system: application to oncogene isolation JO - Proc. Natl. Acad. Sci. USA PY - 1991/// VL - 88 SP - 5167 EP - 5171 ER - TY - JOUR AU - Sublett, J.E. AU - Jeon, I.-S. AU - Shapiro, D.N. TI - The alveolar rhabdomyosarcoma PAX3/FKHR fusion protein is a transcriptional activator JO - Oncogene PY - 1995/// VL - 11 SP - 545 EP - 552 ER -