Endothelin-B receptor mutations in patients with isolated Hirschsprung disease from a non-inbred population
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چکیده
منابع مشابه
Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease.
Hirschsprung disease (HSCR, aganglionic megacolon) is a frequent congenital malformation regarded as a multigenic neurocristopathy. Two susceptibility genes have been recently identified in HSCR, namely the RET proto-oncogene and the endothelin B receptor (EDNRB) gene. Hitherto however, homozygosity for EDNRB mutations accounted for the HSCR-Waardenburg syndrome (WS) association. Here, we repor...
متن کاملNovel mutations of the endothelin-B receptor gene in isolated patients with Hirschsprung's disease.
Hirschsprung's disease (HSCR) is characterized by the absence of autonomic ganglion cells in the terminal bowel and is a relatively common cause of intestinal obstruction in the newborn. The incidence of HSCR is estimated to be 1 in 5000 live births. Recently, the endothelin-B receptor (EDNRB) gene has been shown as a susceptibility gene for HSCR by the production of aganglionic colon in mice w...
متن کاملHighly recurrent RET mutations and novel mutations in genes of the receptor tyrosine kinase and endothelin receptor B pathways in Chinese patients with sporadic Hirschsprung disease.
BACKGROUND Hirschsprung disease (HSCR) is a congenital disorder characterized by an absence of ganglion cells in the nerve plexuses of the lower digestive tract. HSCR has a complex pattern of inheritance and is sometimes associated with mutations in genes of the receptor tyrosine kinase (RET) and endothelin receptor B (EDNRB) signaling pathways, which are crucial for development of the enteric ...
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Hirschsprung disease (HSCR) is a newborn colorectal disease characterized by an absence of ganglia in the distal gut. Hedgehog (Hh) and endothelin signaling serve important roles in gastrointestinal tract formation. Alterations in the signaling pathways disrupt the development of enteric neural crest cells (ENCCs). It is not known whether there is any coordination between these pathways in the ...
متن کاملUpregulation of Endothelin-1/Endothelin A Receptor Expression Correlates with Heparanase Expression in Ovarian Carcinoma
Background: Heparanase and endothelin-1/endothelin A receptor (ET-1/ETAR) expressions increase in cancer. This condition enhances tumor progression and correlates with poor survival. Limited data are documented regarding the role of heparanase and ET-1/ETAR in epithelial ovarian cancer (EOC). We sought to characterize the correlation between heparanase and ET-1/ETAR in EOC.Methods: Thirty patie...
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ژورنال
عنوان ژورنال: Human Molecular Genetics
سال: 1996
ISSN: 1460-2083
DOI: 10.1093/hmg/5.3.351