نتایج جستجو برای: ret proto

تعداد نتایج: 37432  

Journal: :Journal of medical genetics 2003
G Fitze E Paditz M Schläfke E Kuhlisch D Roesner H K Schackert

The idiopathic congenital central hypoventilation syndrome (CCHS) was first described by Mellins et al and is characterised by an alteration of the ventilatory response to hypercapnia and hypoxia. Whereas normal ventilation is adequate in many of the patients during wakefulness, the alveolar hypoventilation observed during sleep seems attributable to a failure of the central autonomic control o...

2012
Caterina Mian Paola Sartorato Susi Barollo Mariangela Zane Giuseppe Opocher

Medullary thyroid carcinoma currently accounts for 5-8% of all thyroid cancers. The clinical course of this disease varies from extremely indolent tumors that can go unchanged for years to an extremely aggressive variant that is associated with a high mortality rate. As many as 75% of all medullary thyroid carcinomas are sporadic, with an average age at presentation reported as 60 years, and th...

Journal: :Journal of Investigative Dermatology 2023

RET proto-oncogene is a receptor tyrosine kinase with three neurotrophic ligands: GDNF, ARTN and NRTN. Activation of central in progression multiple human malignancies; however pathway axis not well defined epithelial cancers. Here, we investigated the tumor enabling capacity cutaneous squamous carcinoma (cSCC) evaluated therapeutic effects blockade. IHC qRT-PCR analysis revealed robust activat...

Journal: :Archives of surgery 2003
Linwah Yip Gilbert J Cote Suzanne E Shapiro Gregory D Ayers Cynthia E Herzog Rena V Sellin Steven I Sherman Robert F Gagel Jeffrey E Lee Douglas B Evans

HYPOTHESIS Multiple endocrine neoplasia type 2 (MEN 2) is caused by RET proto-oncogene mutations and has a strong penetrance for medullary thyroid carcinoma (MTC). Subtypes are defined by the presence or absence of pheochromocytomas, hyperparathyroidism, and characteristic clinical stigmas. We hypothesize that specific RET mutations correlate with the MEN 2 phenotype and aggressiveness of MTC. ...

Journal: :The New England journal of medicine 2002
James A Strauchen

BACKGROUND The group of susceptibility genes for pheochromocytoma that included the proto-oncogene RET (associated with multiple endocrine neoplasia type 2 [MEN-2]) and the tumor-suppressor gene VHL (associated with von Hippel-Lindau disease) now also encompasses the newly identified genes for succinate dehydrogenase subunit D (SDHD) and succinate dehydrogenase subunit B (SDHB), which predispos...

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