Mutations in Hirschsprung disease: when does a mutation contribute to the phenotype.

Catalytic specificity of protein-tyrosine kinases is critical for selective signalling

1995 • 929 citations

A missense mutation of the endothelin-B receptor gene in multigenic hirschsprung's disease

1994 • 886 citations

Activation of RET as a Dominant Transforming Gene by Germline Mutations of MEN2A and MEN2B

1995 • 826 citations

Mutations of the RET proto-oncogene in Hirschsprung's disease

1994 • 751 citations

Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease

1994 • 702 citations

Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome)

1996 • 449 citations

A genetic study of Hirschsprung disease.

1990 • 426 citations

Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease

1995 • 311 citations

A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome)

1996 • 303 citations

Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient

1996 • 277 citations

Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease

1995 • 243 citations

Loss of function effect of RET mutations causing Hirschsprung disease

1995 • 218 citations

Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease

1996 • 209 citations

The Full Oncogenic Activity of Ret/ptc2 Depends on Tyrosine 539, a Docking Site for Phospholipase Cγ

1996 • 199 citations

Germline mutations of the RET ligand GDNF are not sufficient to cause Hirschsprung disease

1996 • 194 citations

A Mutation at Tyrosine 1062 in MEN2A-Ret and MEN2B-Ret Impairs Their Transforming Activity and Association with Shc Adaptor Proteins

1996 • 188 citations

Endothelin receptor-mediated signaling in hirschsprung disease.

1996 • 177 citations

Oncogenic RET Receptors Display Different Autophosphorylation Sites and Substrate Binding Specificities

1996 • 144 citations

De novo mutation of GDNF, ligand for the RET/GDNFR-alpha receptor complex, in Hirschsprung disease

1996 • 143 citations

Novel mutations of the endothelin-B receptor gene in isolated patients with Hirschsprung's disease

1996 • 141 citations

The Ret Receptor Protein Tyrosine Kinase Associates with the SH2-containing Adapter Protein Grb10

1995 • 140 citations

Endothelin-B receptor mutations in patients with isolated Hirschsprung disease from a non-inbred population

1996 • 135 citations

Molecular heterogeneity of RET loss of function in Hirschsprung's disease.

1996 • 132 citations

RET activation by germline MEN2A and MEN2B mutations.

1995 • 130 citations

The oncogenic versions of the Ret and Trk tyrosine kinases bind Shc and Grb2 adaptor proteins.

1994 • 101 citations

Mechanism of ret dysfunction by Hirschsprung mutations affecting its extracellular domain

1996 • 99 citations

Heterogeneity and Low Detection Rate of RET Mutations in Hirschsprung Disease

1994 • 67 citations

Evolutionary grouping of the transforming growth factor-β superfamily

1992 • 35 citations

No mutations found byRET mutation scanning in sporadic and hereditary neuroblastoma

1996 • 25 citations