Medical Knowledge Cockpit pheochromocytoma

• Thyroid cancer
  Homo sapiens (human) one gene

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KIF1B

• Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta

RET

• The oncogenic versions of the Ret and Trk tyrosine kinases bind Shc and Grb2 adaptor proteins
• 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

SDHB

• Human complex II (succinate-ubiquinone oxidoreductase): cDNA cloning of iron sulfur (Ip) subunit of liver mitochondria

SDHD

• Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip
• Relevance of germline mutation screening in both familial and sporadic head and neck paraganglioma for early diagnosis and clinical management
• The Dutch founder mutation SDHD.D92Y shows a reduced penetrance for the development of paragangliomas in a large multigenerational family

VHL

• The von Hippel������Lindau tumor suppressor complex and regulation of hypoxia-inducible transcription
• von Hippel������Lindau tumor suppressor: not only HIF's executioner
• Formation of primary cilia in the renal epithelium is regulated by the von Hippel������Lindau tumor suppressor protein
• The von Hippel������Lindau tumor suppressor gene expression level has prognostic value in neuroblastoma
• The von Hippel������Lindau tumor suppressor gene and kidney cancer

GDNF

• Noribogaine, but not 18-MC, exhibits similar actions as ibogaine on GDNF expression and ethanol self-administration
• Mutations in Hirschsprung disease: when does a mutation contribute to the phenotype
• Pathogenesis of Hirschsprung's disease

MAX

• Myc-Max heterodimers activate a DEAD box gene and interact with multiple E box-related sites in vivo.
• The crystal structure of an intact human Max-DNA complex: new insights into mechanisms of transcriptional control.
• Rox, a novel bHLHZip protein expressed in quiescent cells that heterodimerizes with Max, binds a non-canonical E box and acts as a transcriptional repressor.
• Transcription enhancer factor 1 interacts with a basic helix-loop-helix zipper protein, Max, for positive regulation of cardiac alpha-myosin heavy-chain gene expression.
• Mmip1: a novel leucine zipper protein that reverses the suppressive effects of Mad family members on c-myc.

SDHD

Somatic tumors

Tumor types germline

paraganglioma, pheochromocytoma

Cancer Syndrom

familial paraganglioma

Translocation partner

Name

succinate dehydrogenase complex, subunit D, integral membrane protein

Chromosome banding

11q23

Cancer molecular gen.

Rec

Mutation type

Mis, N, F, S

Other syndrome disease