Literature DB >> 11062463

Mutations in the gene encoding the latency-associated peptide of TGF-beta 1 cause Camurati-Engelmann disease.

K Janssens1, R Gershoni-Baruch, N Guañabens, N Migone, S Ralston, M Bonduelle, W Lissens, L Van Maldergem, F Vanhoenacker, L Verbruggen, W Van Hul.   

Abstract

Camurati-Engelmann disease (CED; MIM 131300), or progressive diaphyseal dysplasia, is a rare, sclerosing bone dysplasia inherited in an autosomal dominant manner. Recently, the gene causing CED has been assigned to the chromosomal region 19q13 (refs 1-3). Because this region contains the gene encoding transforming growth factor-beta 1 (TGFB1), an important mediator of bone remodelling, we evaluated TGFB1 as a candidate gene for causing CED.

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Year:  2000        PMID： 11062463     DOI： 10.1038/81563

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


  60 in total

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Review 8.  Sclerosing bone dysplasias: leads toward novel osteoporosis treatments.

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9.  E-selectin ligand 1 regulates bone remodeling by limiting bioactive TGF-β in the bone microenvironment.

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Journal:  Am J Hum Genet       Date:  2003-02-10       Impact factor: 11.025
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