This diagram shows which skeletal dysplasias are caused by abnormalities in in TGF-beta signalling. The diagram is based on pathway: [[Pathway:WP560|TGF-beta Receptor Signaling (Homo sapiens)]]. Dotted arrows indicates that a disease is caused by mutation in the respective gene. The exact role of ADAMTS10 and ADAMTSL2 is currently unknown, they are known to interact with FBN1. The Transforming growth factor beta (TGFβ) signaling pathway is involved in many cellular processes in both the adult organism and the developing embryo including cell growth, cell differentiation, apoptosis, cellular homeostasis and other cellular functions. In spite of the wide range of cellular processes that the TGFβ signaling pathway regulates, the process is relatively simple. TGFβ superfamily ligands bind to a type II receptor, which recruits and phosphorylates a type I receptor. The type I receptor then phosphorylates receptor-regulated SMADs (R-SMADs) which can now bind the coSMAD SMAD4. R-SMAD/coSMAD complexes accumulate in the nucleus where they act as transcription factors and participate in the regulation of target gene expression. (source: [http://en.wikipedia.org/wiki/TGF_beta_signaling_pathway WikiPedia]).

Authors

Ritchie Lee , Kristina Hanspers , Andreas Zankl , and Eric Weitz

Cited In

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Organism

Homo sapiens

Communities

Skeletal Dysplasia

Annotations

Pathway Ontology: altered transforming growth factor-beta signaling pathway transforming growth factor-beta superfamily mediated signaling pathway

Participants

References

1. TGFbeta signaling in growth control, cancer, and heritable disorders. Massagué J, Blain SW, Lo RS. Cell. 2000 Oct 13;103(2):295–309. PubMed Europe PMC Scholia
2. How cells read TGF-beta signals. Massagué J. Nat Rev Mol Cell Biol. 2000 Dec;1(3):169–78. PubMed Europe PMC Scholia
3. MicroRNAs as regulators of differentiation and cell fate decisions. Ivey KN, Srivastava D. Cell Stem Cell. 2010 Jul 2;7(1):36–41. PubMed Europe PMC Scholia