Novel Mutations of the Endothelin B Receptor Gene in Patients with Hirschsprung's Disease and Their Characterization

Molecular Cloning: A Laboratory Manual

2001 • 133,517 citations

Molecular cloning: A laboratory manual

1990 • 85,659 citations

A novel potent vasoconstrictor peptide produced by vascular endothelial cells

1988 • 10,786 citations

Cloning and expression of a cDNA encoding an endothelin receptor

1990 • 2,590 citations

The human endothelin family: three structurally and pharmacologically distinct isopeptides predicted by three separate genes.

1989 • 2,551 citations

Cloning of a cDNA encoding a non-isopeptide-selective subtype of the endothelin receptor

1990 • 2,432 citations

A general method ofin vitropreparation and specific mutagenesis of DNA fragments: study of protein and DNA interactions

1988 • 2,410 citations

Endothelins: molecular biology, biochemistry, pharmacology, physiology, and pathophysiology.

1994 • 1,631 citations

Defects in the kidney and enteric nervous system of mice lacking the tyrosine kinase receptor Ret

1994 • 1,589 citations

GDNF–Induced Activation of the Ret Protein Tyrosine Kinase Is Mediated by GDNFR-α, a Novel Receptor for GDNF

1996 • 1,170 citations

Targeted and natural (piebald-lethal) mutations of endothelin-B receptor gene produce megacolon associated with spotted coat color in mice

1994 • 1,000 citations

Interaction of endothelin-3 with endothelin-B receptor is essential for development of epidermal melanocytes and enteric neurons

1994 • 934 citations

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

1994 • 886 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 GPI-linked protein that interacts with Ret to form a candidate neurturin receptor

1997 • 397 citations

Structural features required for ligand binding to the beta-adrenergic receptor.

1987 • 358 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

Neurturin responsiveness requires a GPI-linked receptor and the Ret receptor tyrosine kinase

1997 • 300 citations

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

1996 • 277 citations

Cassette mutagenesis: an efficient method for generation of multiple mutations at defined sites

1985 • 270 citations

Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease

1995 • 243 citations

Mutation of the endothelin-receptor B gene in Waardenburg-Hirschsprung disease

1995 • 227 citations

Null mutation of endothelin receptor type B gene in spotting lethal rats causes aganglionic megacolon and white coat color.

1996 • 211 citations

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

1996 • 209 citations

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

1996 • 194 citations

Endothelin receptor-mediated signaling in hirschsprung disease.

1996 • 177 citations

Distinct subdomains of human endothelin receptors determine their selectivity to endothelinA-selective antagonist and endothelinB-selective agonists.

1993 • 168 citations

The human endothelin-B receptor gene. Structural organization and chromosomal assignment.

1993 • 162 citations

A gene for Hirschsprung disease (megacolon) in the pericentromeric region of human chromosome 10

1993 • 157 citations

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

1996 • 141 citations

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

1996 • 135 citations

Endothelin receptor subtypes and their role in transmembrane signaling mechanisms

1995 • 129 citations

Systematic analysis of stop-transfer sequence for microsomal membrane

1991 • 112 citations

Palmitoylation of Endothelin Receptor A

1996 • 103 citations

Purification and characterization of bovine lung endothelin receptor.

1991 • 90 citations

The amino-terminal structures that determine topological orientation of cytochrome P-450 in microsomal membrane.

1990 • 90 citations

Interstitial deletion of the Endothelin-B receptor gene in the spotting lethal (sl) rat

1995 • 82 citations

Construction of defined polytopic integral transmembrane proteins. The role of signal and stop transfer sequence permutations.

1988 • 71 citations

Human Homology and Candidate Genes for theDominant megacolonLocus, a Mouse Model of Hirschsprung Disease

1997 • 29 citations

Truncation of the Receptor Carboxyl Terminus Impairs Membrane Signaling but Not Ligand Binding of Human ETB Endothelin Receptor

1995 • 22 citations

Different Stability of Ligand-Receptor Complex Formed with Two Endothelin Receptor Species, ETA and ETB

1992 • 16 citations

Effect of phosphoramidon on big endothelin‐2 conversion into endothelin‐2 in human renal adenocarcinoma (ACHN) cells Analysis of endothelin‐2 biosynthetic pathway

1992 • 11 citations