Loss of function effect of RET mutations causing Hirschsprung disease.

Pasini, B; Borrello, M G; Greco, A; Bongarzone, I; Luo, Y; Mondellini, P; Alberti, L; Miranda, C; Arighi, E; Bocciardi, R

Pasini, B; Borrello, M G; Greco, A; Bongarzone, I; Luo, Y; Mondellini, P; Alberti, L; Miranda, C; Arighi, E; Bocciardi, R.

Affiliation

Pasini B; Laboratorio di Genetica Molecolare, Istituto Giannina Gaslini, Genova Quarto, Italy.

Nat Genet ; 10(1): 35-40, 1995 May.

Article in En | MEDLINE | ID: mdl-7647787

Subject(s)

Cyclic AMP-Dependent Protein Kinases/metabolism; Drosophila Proteins; Hirschsprung Disease/genetics; Mutation; Proto-Oncogene Proteins/physiology; Receptor Protein-Tyrosine Kinases/physiology; 3T3 Cells; Animals; Base Sequence; Cell Differentiation; Cell Transformation, Neoplastic; Cyclic AMP-Dependent Protein Kinases/genetics; Exons; Genetic Complementation Test; HeLa Cells; Humans; Mice; Molecular Sequence Data; Mutagenesis, Site-Directed; PC12 Cells; Phosphorylation; Precipitin Tests; Proto-Oncogene Proteins/genetics; Proto-Oncogene Proteins c-ret; Rats; Receptor Protein-Tyrosine Kinases/genetics; Recombinant Fusion Proteins/genetics; Recombinant Fusion Proteins/physiology; Transfection; Tyrosine/metabolism

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Collection: 01-internacional Database: MEDLINE Main subject: Proto-Oncogene Proteins / Receptor Protein-Tyrosine Kinases / Cyclic AMP-Dependent Protein Kinases / Drosophila Proteins / Hirschsprung Disease / Mutation Limits: Animals / Humans Language: En Journal: Nat Genet Year: 1995 Document type: Article

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