نتایج جستجو برای: ret proto oncogene

تعداد نتایج: 53928  

Journal: :Human molecular genetics 2003
Guido Fitze Hella Appelt Inke R König Heike Görgens Ulrike Stein Wolfgang Walther Manfred Gossen Matthias Schreiber Andreas Ziegler Dietmar Roesner Hans K Schackert

The activation of the RET signaling pathway during embryogenesis is a crucial prerequisite for a directional migration of enteric nervous system progenitor cells. Loss-of-function germline mutations of the RET proto-oncogene are reported in familial and sporadic cases of Hirschsprung disease (HSCR) with a variable frequency. Furthermore, variants of several RET polymorphisms are over- or under-...

Journal: :Srpski arhiv za celokupno lekarstvo 2014
Maja D Jesić Milina Tancić-Gajić Milos M Jesić Vladan Zivaljević Silvija Sajić Svetlana Vujović Svetozar Damjanović

INTRODUCTION The multiple endocrine neoplasia type 2A (MEN 2A) syndrome, comprising medullary thyroid carcinoma (MTC), pheochromocytoma and primary hyperparathyroidism (PHPT) is most frequently caused by codon 634 activating mutations of the RET (rearranged during transfection) proto-oncogene on chromosome 10. For this codon-mutation carriers, earlier thyroidectomy (before the age of 5 years) w...

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: :Thyroid : official journal of the American Thyroid Association 2009
Amy E Rothberg Victoria M Raymond Stephen B Gruber James Sisson

BACKGROUND This is a report of a patient with a novel genotype-phenotype relationship of a c804 mutation of the RET proto-oncogene manifesting as medullary thyroid carcinoma (MTC) and cutaneous lichen amyloidosis (CLA). SUMMARY Clinical data were obtained for patient appearance and laboratory results. Analyzed were histopathology of the skin lesion and thyroid gland, genetic mutation, and fam...

2012
Roopa Kanakatti Shankar Michael J Rutter Steven D Chernausek Paul J Samuels Jun Qin Mo Meilan M Rutter

BACKGROUND Patients with Multiple Endocrine Neoplasia type 2 (MEN 2) are at high risk of developing aggressive medullary thyroid carcinoma (MTC) in childhood, with the highest risk in those with MEN type 2B (of whom >95% have an M918T RET proto-oncogene mutation). Metastatic MTC has been reported as young as 3 months of age. Current guidelines recommend prophylactic thyroidectomy within the fir...

Journal: :Genome research 2012
Young Seok Ju Won-Chul Lee Jong-Yeon Shin Seungbok Lee Thomas Bleazard Jae-Kyung Won Young Tae Kim Jong-Il Kim Jin-Hyoung Kang Jeong-Sun Seo

The identification of the molecular events that drive cancer transformation is essential to the development of targeted agents that improve the clinical outcome of lung cancer. Many studies have reported genomic driver mutations in non-small-cell lung cancers (NSCLCs) over the past decade; however, the molecular pathogenesis of >40% of NSCLCs is still unknown. To identify new molecular targets ...

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