SMAD4 References

The web links shown below are existing online resources for SMAD4, Juvenile Polyposis Syndrome (JPS), Hereditary Hemorrhagic Telangiectasia (HHT), and the combined syndrome JP/HHT. Links to several review journal articles are given, as well as genome and protein links.

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Disease Information Links

• SMAD4: The Human Gene Mutation Database
• SMAD4: MutDB

Gene and Protein Links

• SMAD4 cDNA: NC_000018.9
• SMAD4 mRNA: NM_005359.5
• SMAD4 protein: NP_005350.1
• SMAD4 at HPRD and Uniprot

Web Reviews

• Entrez Gene: SMAD4
• GeneReviews for JPS, HHT
• OMIM for JPS, SMAD4, JP/HHT, and HHT
• Genetics Home Reference for JPS and HHT

Peer-Reviewed Literature

• Pyatt, et al. Mutation screening in juvenile polyposis syndrome. Journal of Molecular Diagnostics 2006. 8(1): 84-8.
• Aretz, et al. High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome. Journal of Medical Genetics 2007. 44(11): 702-9.
• Gallione, et al. A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4). Lancet 2004. 363(9412): 852-9.
• Howe, et al. The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations. Journal of Medical Genetics 2004. 41(7): 484-91.
• Sayed, et al. Germline SMAD4 or BMPR1A mutations and phenotype of juvenile polyposis. Annals of Surgical Oncology 2002. 9(9): 901-6.