Abstract
The absence of the P383L mutant receptor from the membrane clearly indicates that this mutation could be involved in HSCR. The G57S and R319W mutant receptors, despite their normal coupling to Gaq, have a defect in the Galphai signaling pathway and the G57S mutation couples to Galphas. These observations allow us to hypothesize that cAMP signaling might be involved in the differenciation of neural cells in the bowel.
Keywords
Molecular medicineEndothelin receptorReceptorGeneHuman geneticsDiseaseMedicineBiologyInternal medicineCancer researchGeneticsBioinformatics
Affiliated Institutions
Related Publications
Insulin action and resistance in obesity and noninsulin-dependent type II diabetes mellitus
Resistance to the action of insulin can result from a variety of causes, including the formation of abnormal insulin or proinsulin molecules, the presence of circulating antagon...
Receptor and postreceptor defects contribute to the insulin resistance in noninsulin-dependent diabetes mellitus.
We have assessed the mechanisms involved in the pathogenesis of the insulin resistance associated with impaired glucose tolerance and Type II diabetes mellitus by exploring, by ...
Synucleinopathies
The synucleinopathies are a diverse group of neurodegenerative disorders that share a common pathologic lesion composed of aggregates of insoluble alpha-synuclein protein in sel...
Enhanced Neurofibrillary Degeneration in Transgenic Mice Expressing Mutant Tau and APP
JNPL3 transgenic mice expressing a mutant tau protein, which develop neurofibrillary tangles and progressive motor disturbance, were crossed with Tg2576 transgenic mice expressi...
Pathological and clinical features of Parkinson's disease with and without dementia
The pathology of Parkinson's disease (PD) is characterized by the presence of neuronal loss, Lewy bodies (LBs), and Lewy neurites (LNs) at predilection sites in the nervous syst...
Publication Info
- Year
- 2001
- Type
- article
- Volume
- 7
- Issue
- 2
- Pages
- 115-124
- Citations
- 59
- Access
- Closed
External Links
Social Impact
Altmetric
PlumX Metrics
Social media, news, blog, policy document mentions
Citation Metrics
59
OpenAlex
Cite This
Sébastien Fuchs,
Jeanne Amiel,
Sophie E. Claudel
et al.
(2001).
Functional Characterization of Three Mutations of the Endothelin B Receptor Gene in Patients With Hirschsprung’s Disease: Evidence for Selective Loss of Gi Coupling.
Molecular Medicine
, 7
(2)
, 115-124.
https://doi.org/10.1007/bf03401945
Identifiers
- DOI
- 10.1007/bf03401945