Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome.

Autor: Kalff-Suske, Martha, Wild, Anja, Topp, Juliane, Wessling, Martina, Jacobsen, Eva-Maria, Bornholdt, Dorothea, Engel, Hartmut, Heuer, Heike, Aalfs, Cora M., Ausems, Margreet G.E.M., Barone, Rita, Herzog, Andreas, Heutink, Peter, Homfray, Tessa, Gillessen-Kaesbach, Gabriele, Konig, Rainer, Kunze, Jurgen, Meinecke, Peter, Muller, Dietmar, Rizzo, Renata
Zdroj: Human Molecular Genetics; Sep99, Vol. 8 Issue 9, p1769, 9p, 3 Diagrams, 1 Chart
Abstrakt: Examines the association between point mutations in zinc finger protein gene GLI3 and Greig cephalopolysyndactyly syndrome. Regulation of activity and proteolysis of Cubitus interruptus protein; Domains responsible for subcellular compartmentalization of proteins; Release of transcriptional repressors that translocate to the nucleus.
Databáze: Complementary Index