Missense mutations that cause Van der Woude syndrome and popliteal pterygium syndrome affect the DNA-binding and transcriptional activation functions of IRF6

بواسطة Little, Hayley J., Rorick, Nicholas K., Su, Ling-I, Baldock, Clair, Malhotra, Saimon, Jowitt, Tom, Gakhar, Lokesh, Subramanian, Ramaswamy, Schutte, Brian C., Dixon, Michael J., Shore, Paul
منشور في 2009

Missense mutations that cause Van der Woude syndrome and popliteal pterygium syndrome affect the DNA-binding and transcriptional activation functions of IRF6

بواسطة Little, Hayley J., Rorick, Nicholas K., Su, Ling-I, Baldock, Clair, Malhotra, Saimon, Jowitt, Tom, Gakhar, Lokesh, Subramanian, Ramaswamy, Schutte, Brian C., Dixon, Michael J., Shore, Paul
منشور في 2009

Genomic Strategy Identifies a Missense Mutation in WD-Repeat Domain 65 (WDR65) in an Individual with Van der Woude Syndrome

بواسطة Rorick, Nicholas K., Kinoshita, Akira, Weirather, Jason, Peyrard-Janvid, Myriam, Ferreira de Lima, Renata L. L., Dunnwald, Martine, Shanske, Alan L., Moretti-Ferreira, Danilo, Koillinen, Hannele, Kere, Juha, Mansilla, Maria A., Murray, Jeffrey C., Goudy, Steve L., Schutte, Brian C.
منشور في 2011

Prevalence and non-random distribution of exonic mutations in Interferon Regulatory Factor 6 (IRF6) in 307 families with Van der Woude syndrome and 37 families with popliteal ptery...

بواسطة Ferreira de Lima, Renata L. L., Hoper, Sarah A., Ghassibe, Michella, Cooper, Margaret E., Rorick, Nicholas K., Kondo, Shinji, Katz, Lori, Marazita, Mary L., Compton, John, Bale, Sherri, Hehr, Ute, Dixon, Michael J., Daack-Hirsch, Sandra, Boute, Odile, Bayet, Bénédicte, Revencu, Nicole, Verellen-Dumoulin, Christine, Vikkula, Miikka, Richieri-Costa, Antônio, Moretti-Ferreira, Danilo, Murray, Jeffrey C., Schutte, Brian C.
منشور في 2009