EDNRB

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EDNRB

A gene on chromosome 13q22 that encodes endothelin-B receptor, a member of the endothelin receptor group of G-protein-coupled
receptors, located primarily in the vascular endothelial cells where they play a role in vasoconstriction, vasodilation, bronchoconstriction and cell proliferation.

Molecular pathology
EDNRB mutations cause Hirschsprung disease type 2.
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References in periodicals archive ?
sup][18] collected stool samples from HSCR patients and found that MUC-2 was obviously lower in HSCR group, and interestingly, the expression of MUC-2 in HAEC group could not be detected.
Fujimoto [sup][22] found that neutral mucins and sulfomucins were both significantly reduced in the piebald lethal mouse model of HSCR.
sup][35] not only bacteria but also fungus were different in HAEC children compared with HSCR children without HAEC.
But in HSCR group, bacteria in distal segments outnumbered that in proximal segments.
However, when GCs are not present, especially in samples lacking hypertrophic nerves and/or in samples with inadequate amount of submucosa, additional levels and special stains will be needed and longer examination times of up to 30 to 60 minutes may be required to establish the diagnosis of HSCR.
3,4) Most cases with classic HSCR show numerous prominent nerves (>40 [micro]m diameter) in the submucosa (Figure 6, a).
1,3,5) Biopsy specimens from patients with HSCR show AChE-positive thick fibers in the muscularis mucosa extending to a variable length in the lamina propria (Figure 6, b), and biopsy samples from ganglionic bowel may show only few or absent cholinergic fibers.
The grandmother (I2) carries the mutation but does not display a HSCR phenotype, suggesting that RET haploinsufficiency alone is necessary but not sufficient to cause aganglionosis.
Thus, we did not observe the association of RET c135G allele and the RET mutation with long-segment HSCR in this family.
We analyzed germline mutations in genes encoding protein members of the RET and EDNRB signaling pathways to investigate how mutations in those genes correlate with the manifestation of the disease in Chinese HSCR patients.
Eighty-four ethnic Chinese patients diagnosed with sporadic HSCR were included in this study.
Twenty patients had at least one mutation in the genes investigated, representing 24% of the total number of HSCR patients studied.