Results 51 to 60 of about 15,137 (114)
Hirschsprung disease, associated syndromes and genetics: A review [PDF]
, 2008 Hirschsprung disease (HSCR, aganglionic megacolon) represents the main genetic cause of functional intestinal obstruction with an incidence of 1/5000 live births.
Amiel, J +23 more
core +2 more sources
MedComm, Volume 7, Issue 2, February 2026.The BRAF25 meta‐signature effectively captures BRAF‐driven oncogenic activity. By enabling precise patient stratification with distinct mutation profiles, BRAF25 identifies BRAF‐active tumor subtypes and provides superior prognostic value compared with mutation status alone.
Kaidi Yang +7 more
wiley +1 more source
Multiple endocrine neoplasia type 2B in a Chinese patient [PDF]
, 2004 Multiple endocrine neoplasia type 2B syndrome is rarely reported in Chinese patients. A 25-year-old Chinese male presented with full-blown clinical features of this syndrome, including bilateral phaeochromocytomas, medullary thyroid carcinoma, and ...
Chan, WF, Chang, A, Lam, KSL, Lo, CY
core
Analyses of domains and domain fusions in human proto-oncogenes [PDF]
, 2009 Background Understanding the constituent domains of oncogenes, their origins and their fusions may shed new light about the initiation and the development of cancers.
Qi Liu +5 more
core +1 more source
Liquid–Liquid Phase Separation in Major Hallmarks of Cancer
Cell Proliferation, Volume 59, Issue 2, February 2026.Aberrant condensates formed through phase separation are involved in the dysregulation of various critical cellular processes, including genome stability, transcriptional regulation and signal transduction, thereby promoting malignant transformation and the acquisition of multiple cancer hallmarks.
Chen‐chen Xie +10 more
wiley +1 more source
Deciphering ret signalling in cell biology and development [PDF]
, 2015 The rearranged during transformation (RET) tyrosine kinase regulates a plethora of biological processes such as cell survival, proliferation and migration and is essential for the normal development of several organs such as the sensory, enteric and ...
Lübke, Moritz
core +1 more source
FEBS Letters, Volume 600, Issue 2, Page 215-225, January 2026.Anaplastic thyroid cancer (ATC) lacks iodide uptake ability due to MAPK activation increasing the expression of the histone methyltransferase EZH2, which represses thyroid differentiation genes (TDGs) such as the sodium iodide symporter (NIS). Dual inhibition of MAPK (U0126) and EZH2 (EPZ6438/Tazemetostat) reverses this mechanism, thus restoring TDG ...
Diego Claro de Mello +6 more
wiley +1 more source
THE CONCISE GUIDE TO PHARMACOLOGY 2017/18:Catalytic receptors [PDF]
, 2017 The Concise Guide to PHARMACOLOGY 2017/18 provides concise overviews of the key properties of nearly 1800 human drug targets with an emphasis on selective pharmacology (where available), plus links to an open access knowledgebase of drug targets and ...
, +11 more
core +5 more sources
Prophylactic thyroidectomy in ethnic Chinese patients with multiple endocrine neoplasia type 2A syndrome after the introduction of genetic testing [PDF]
, 2009 Objective: To evaluate the impact of genetic testing in the management of familial multiple endocrine neoplasia 2A patients. Design: Retrospective study. Setting: University teaching hospital, Hong Kong.
GarciaBarcelo, MM +6 more
core
Modulatory role of phospholipase D in the activation of signal transducer and activator of transcription (STAT)-3 by thyroid oncogenic kinase RET/PTC [PDF]
, 2008 Background RET/PTC (rearranged in transformation/papillary thyroid carcinomas) gene rearrangements are the most frequent genetic alterations identified in papillary thyroid carcinoma.
Young-Rae Kim +48 more
core +1 more source