Medical Knowledge Cockpit central hypoventilation syndrome

• Thyroid cancer
  Homo sapiens (human) one gene

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RET

Somatic tumors

medullary thyroid, papillary thyroid, pheochromocytoma, NSCLC, Spitzoid tumour

Tumor types germline

medullary thyroid, papillary thyroid, pheochromocytoma

Cancer Syndrom

multiple endocrine neoplasia 2A/2B

Translocation partner

H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6

Name

ret proto-oncogene

Chromosome banding

10q11.2

Cancer molecular gen.

Dom

Mutation type

T, Mis, N, F

Other syndrome disease

Hirschsprung disease

GDNF

• Mutations in Hirschsprung disease: when does a mutation contribute to the phenotype
• Pathogenesis of Hirschsprung's disease
• The gene coding for glial cell line derived neurotrophic factor (GDNF) maps to chromosome 5p12-p13.1

ASCL1

• An achaete-scute homologue essential for neuroendocrine differentiation in the lung
• Tissue-specific expression of human achaete-scute homologue-1 in neuroendocrine tumors: transcriptional regulation by dual inhibitory regions
• MASH1 maintains competence for BMP2-induced neuronal differentiation in post-migratory neural crest cells

BDNF

• NMDA-mediated and self-induced bdnf exon IV transcriptions are differentially regulated in cultured cortical neurons
• Hippocampal epigenetic modification at the brain-derived neurotrophic factor gene induced by an enriched environment
• Ca2+ influx regulates BDNF transcription by a CREB family transcription factor-dependent mechanism
• BHLHB2 controls Bdnf promoter 4 activity and neuronal excitability
• A physiological role for the dopamine D5 receptor as a regulator of BDNF and Akt signalling in rodent prefrontal cortex

• The BDNF val66met polymorphism affects activity-dependent secretion of BDNF and human memory and hippocampal function
• Variant BDNF (Val66Met) impact on brain structure and function
• Toward a unified biological hypothesis for the BDNF Val66Met-associated memory deficits in humans: a model of impaired dendritic mRNA trafficking
• A simple role for BDNF in learning and memory?
• The Role of BDNF in the Development of Fear Learning
• BDNF-based synaptic repair as a disease-modifying strategy for neurodegenerative diseases
• Brain-derived neurotrophic factor induces NMDA receptor subunit one phosphorylation via ERK and PKC in the rat spinal cord

EDN3

• Secretion of endothelin-1 and endothelin-3 by human cultured vascular smooth muscle cells
• Interaction of endothelin-3 with endothelin-B receptor is essential for development of epidermal melanocytes and enteric neurons

RET

• Identification of Shc docking site on Ret tyrosine kinase
• Central role of the threonine residue within the p+1 loop of receptor tyrosine kinase in STAT3 constitutive phosphorylation in metastatic cancer cells
• Activation of signal transducer and activator of transcription 3 by oncogenic RET/PTC (rearranged in transformation/papillary thyroid carcinoma) tyrosine kinase: roles in specific gene regulation and cellular transformation
• MEN2A-RET-induced cellular transformation by activation of STAT3