Medical Knowledge Cockpit choreoathetosis

• pdgf signaling pathway
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• role of mef2d in t-cell apoptosis
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• tpo signaling pathway
  species not specified {:one=>"one gene", :other=>"%{count} genes"}

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• angiotensin ii mediated activation of jnk pathway via pyk2 dependent signaling
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NKX2-1

Somatic tumors

NSCLC

Tumor types germline

Cancer Syndrom

Translocation partner

Name

NK2 homeobox 1

Chromosome banding

14q13

Cancer molecular gen.

Dom

Mutation type

A

Other syndrome disease

NKX2-1

• Multiple ras downstream pathways mediate functional repression of the homeobox gene product TTF-1
• Temporal/spatial expression of nuclear receptor coactivators in the mouse lung
• Protein-protein interaction of retinoic acid receptor alpha and thyroid transcription factor-1 in respiratory epithelial cells
• The DNA glycosylase T:G mismatch-specific thymine DNA glycosylase represses thyroid transcription factor-1-activated transcription

PRRT2

• Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia