The Caenorhabditis elegans homolog of FGD1, the human Cdc42 GEF gene responsible for faciogenital dysplasia, is critical for excretory cell morphogenesis

FGD1 mutations result in faciogenital dysplasia, an X-linked human disease that affects skeletogenesis. FGD1 encodes a guanine nucleotide exchange factor (GEF) that specifically activates the Rho GTPase Cdc42. To gain insight into the function of FGD1, we have isolated and characterized fgd-1, the C...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	Human molecular genetics 2001-12, Vol.10 (26), p.3049-3062
Hauptverfasser:	Gao, J, Estrada, L, Cho, S, Ellis, R E, Gorski, J L
Format:	Artikel
Sprache:	eng
Schlagworte:	Amino Acid Sequence Animals Blotting, Northern Caenorhabditis elegans Caenorhabditis elegans - genetics Caenorhabditis elegans - physiology Caenorhabditis elegans Proteins cdc42 GTP-Binding Protein - genetics Down-Regulation Facial Bones - abnormalities faciogenital dysplasia fgd-1 gene FGD-1 protein Guanine Nucleotide Exchange Factors Helminth Proteins - genetics Helminth Proteins - physiology Humans Kidney - embryology Molecular Sequence Data Morphogenesis - genetics Morphogenesis - physiology Mutation Polymerase Chain Reaction Proteins - genetics Sequence Homology Syndrome Urogenital Abnormalities - genetics
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Schreiben Sie den ersten Kommentar!