Medical Knowledge Cockpit loeys-dietz syndrome

• MAPK signaling pathway
  Homo sapiens (human) 3 genes

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• alk in cardiac myocytes
  species not specified 3 genes

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TGFBR2

Somatic tumors

head and neck, colorectal

Tumor types germline

colorectal

Cancer Syndrom

Hereditary Nonpolyposis Colorectal Cancer type 6

Translocation partner

Name

transforming growth factor beta receptor II

Chromosome banding

3p22

Cancer molecular gen.

Rec

Mutation type

Mis, F, N

Other syndrome disease

Loeys-Dietz syndrome 2

TGFBR1

• Physical and functional interactions between type I transforming growth factor beta receptors and Balpha, a WD-40 repeat subunit of phosphatase 2A
• Identification of STRAP, a novel WD domain protein in transforming growth factor-beta signaling
• Determination of type I receptor specificity by the type II receptors for TGF-beta or activin

TGFBR2

• Crystal structure of the human TbetaR2 ectodomain--TGF-beta3 complex

SMAD3

• Polarity of response to transforming growth factor-beta1 in proximal tubular epithelial cells is regulated by beta-catenin.
• TGF-beta1 stimulates human AT1 receptor expression in lung fibroblasts by cross talk between the Smad, p38 MAPK, JNK, and PI3K signaling pathways.
• Erbin inhibits transforming growth factor beta signaling through a novel Smad-interacting domain.
• Arkadia activates Smad3/Smad4-dependent transcription by triggering signal-induced SnoN degradation.
• Receptor-associated Mad homologues synergize as effectors of the TGF-beta response

• Smad regulation in TGF-beta signal transduction

TGFB2

• The soluble exoplasmic domain of the type II transforming growth factor (TGF)-beta receptor. A heterogeneously glycosylated protein with high affinity and selectivity for TGF-beta ligands.
• Interaction of the small interstitial proteoglycans biglycan, decorin and fibromodulin with transforming growth factor beta.