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References
These sources were used to develop the Genetics Home Reference
gene summary
on the
TGFB1
gene.
Basic Neurochemistry (sixth edition, 1999): Transforming growth factors β are the prototypical members of a superfamily of related factors which have diverse roles both in development and in the mature
animal
Campos-Xavier B, Saraiva JM, Savarirayan R, Verloes A, Feingold J, Faivre L, Munnich A, Le Merrer M, Cormier-Daire V. Phenotypic variability at the TGF-beta1 locus in Camurati-Engelmann disease. Hum Genet. 2001 Dec;109(6):653-8. Epub 2001 Nov 9.
PubMed citation
Derynck R, Akhurst RJ, Balmain A. TGF-beta signaling in tumor suppression and cancer progression. Nat Genet. 2001 Oct;29(2):117-29. Review. Erratum in: Nat Genet 2001 Nov;29(3):351.
PubMed citation
Entrez
Gene
Eurekah Bioscience Collection: Transforming Growth
Factor-β
Faria PC, Saba K, Neves AF, Cordeiro ER, Marangoni K, Freitas DG, Goulart LR. Transforming growth factor-beta 1 gene polymorphisms and expression in the blood of prostate cancer patients. Cancer Invest. 2007 Dec;25(8):726-32.
PubMed citation
Jakowlew SB. Transforming growth factor-beta in cancer and metastasis. Cancer Metastasis Rev. 2006 Sep;25(3):435-57. Review.
PubMed citation
Janssens K, ten Dijke P, Ralston SH, Bergmann C, Van Hul W. Transforming growth factor-beta 1 mutations in Camurati-Engelmann disease lead to increased signaling by altering either activation or secretion of the mutant protein. J Biol Chem. 2003 Feb 28;278(9):7718-24. Epub 2002 Dec 18.
PubMed citation
Janssens K, Vanhoenacker F, Bonduelle M, Verbruggen L, Van Maldergem L, Ralston S, Guañabens N, Migone N, Wientroub S, Divizia MT, Bergmann C, Bennett C, Simsek S, Melançon S, Cundy T, Van Hul W. Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment. J Med Genet. 2006 Jan;43(1):1-11. Epub 2005 May 13. Review.
PubMed citation
OMIM:
TRANSFORMING GROWTH FACTOR,
BETA-1
Wallace SE, Lachman RS, Mekikian PB, Bui KK, Wilcox WR. Marked phenotypic variability in progressive diaphyseal dysplasia (Camurati-Engelmann disease): report of a four-generation pedigree, identification of a mutation in TGFB1, and review. Am J Med Genet A. 2004 Sep 1;129A(3):235-47.
PubMed citation
Reviewed: April 2008
Published: May 13, 2013