Aganglionosis
Mostrando 13-15 de 15 artigos, teses e dissertações.
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13. Molecular heterogeneity of RET loss of function in Hirschsprung's disease.
The RET proto-oncogene encodes a receptor with tyrosine kinase activity (RET) that is involved in several neoplastic and non-neoplastic diseases. Oncogenic activation of RET, achieved by different mechanisms, is detected in a sizeable fraction of human thyroid tumors, as well as in multiple endocrine neoplasia types 2A and 2B (MEN2A and MEN2B) and familial m
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14. Salt-sensitive hypertension in endothelin-B receptor–deficient rats
The role of the endothelin-B receptor (ETB) in vascular homeostasis is controversial because the receptor has both pressor and depressor effects in vivo. Spotting lethal (sl) rats carry a naturally occurring deletion in the ETB gene that completely abrogates functional receptor expression. Rats homozygous for this mutation die shortly after birth due to cong
American Society for Clinical Investigation.
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15. A Founding Locus within the RET Proto-Oncogene May Account for a Large Proportion of Apparently Sporadic Hirschsprung Disease and a Subset of Cases of Sporadic Medullary Thyroid Carcinoma
Hirschsprung disease (HSCR) is a common congenital disorder characterized by aganglionosis of the gut. The seemingly unrelated multiple endocrine neoplasia type 2 (MEN 2) is an autosomal dominant disorder characterized by medullary thyroid carcinoma (MTC), pheochromocytoma, and hyperparathyroidism. Yet, germline mutations in the RET proto-oncogene are associ
The American Society of Human Genetics.