Medical Knowledge Cockpit loeys-dietz syndrome

TGFBR1

• Endoglin is an accessory protein that interacts with the signaling receptor complex of multiple members of the transforming growth factor-beta superfamily
• Specific interaction of type I receptors of the TGF-beta family with the immunophilin FKBP-12
• Human type II receptor for bone morphogenic proteins (BMPs): extension of the two-kinase receptor model to the BMPs

TGFBR2

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

SMAD3

• Remarkable versatility of Smad proteins in the nucleus of transforming growth factor-beta activated cells.
• TGF-beta signal transduction.
• Use of expression data and the CGEMS genome-wide breast cancer association study to identify genes that may modify risk in BRCA1/2 mutation carriers.
• Clusterin, a novel modulator of TGF-beta signaling, is involved in Smad2/3 stability.
• Repression of Smad3 activity by histone demethylase SMCX/JARID1C.

• Severe acute respiratory syndrome-associated coronavirus nucleocapsid protein interacts with Smad3 and modulates transforming growth factor-beta signaling.

TGFB2

• Epithelial-mesenchymal transition and its implications for fibrosis.
• Crystal structure of transforming growth factor-beta 2: an unusual fold for the superfamily.

SMAD3

Somatic tumors

colorectal carcinoma, oral squamous cell carcinoma

Tumor types germline

Cancer Syndrom

Translocation partner

Name

SMAD family member 3

Chromosome banding

15q21-q22

Cancer molecular gen.

Rec

Mutation type

Mis

Other syndrome disease

• HTLV-I infection
  Homo sapiens (human) 4 genes

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• Chronic myeloid leukemia
  Homo sapiens (human) 4 genes

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