Mutations in the gene encoding the latency-associated peptide of TGF-beta 1 cause camurati engelmann disease

K. Janssens; R. Gershoni-Baruch; N. Guanabens; N. Migone; S. Ralston; Mary-Louise Bonduelle; Willy Lissens; L. Van Maldergem; F. Vanhoenacker; Leon Verbruggen; W. Van Hul

Mutations in the gene encoding the latency-associated peptide of TGF-beta 1 cause camurati engelmann disease

K. Janssens, R. Gershoni-Baruch, N. Guanabens, N. Migone, S. Ralston, Mary-Louise Bonduelle, Willy Lissens, L. Van Maldergem, F. Vanhoenacker, Leon Verbruggen, W. Van Hul

Research output: Contribution to journal › Article › peer-review

188 Citations (Scopus)

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.

Original language	English
Pages (from-to)	273-275
Number of pages	3
Journal	Nat Genet
Volume	26
Issue number	November
Publication status	Published - Nov 2000

Bibliographical note

Nat. Genet., 2000, 26(3): 273-275.

Keywords

camurati engelmann disease

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http://www.ncbi.nlm.nih.gov/pubmed/11062463?ordinalpos=8&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DefaultReportPanel.Pubmed_RVDocSum

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Janssens, K., Gershoni-Baruch, R., Guanabens, N., Migone, N., Ralston, S., Bonduelle, M-L., Lissens, W., Van Maldergem, L., Vanhoenacker, F., Verbruggen, L., & Van Hul, W. (2000). Mutations in the gene encoding the latency-associated peptide of TGF-beta 1 cause camurati engelmann disease. Nat Genet, 26(November), 273-275. http://www.ncbi.nlm.nih.gov/pubmed/11062463?ordinalpos=8&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DefaultReportPanel.Pubmed_RVDocSum

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title = "Mutations in the gene encoding the latency-associated peptide of TGF-beta 1 cause camurati engelmann disease",

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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author = "K. Janssens and R. Gershoni-Baruch and N. Guanabens and N. Migone and S. Ralston and Mary-Louise Bonduelle and Willy Lissens and {Van Maldergem}, L. and F. Vanhoenacker and Leon Verbruggen and {Van Hul}, W.",

note = "Nat. Genet., 2000, 26(3): 273-275.",

year = "2000",

month = nov,

language = "English",

volume = "26",

pages = "273--275",

journal = "Nature Genetics",

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Janssens, K, Gershoni-Baruch, R, Guanabens, N, Migone, N, Ralston, S, Bonduelle, M-L, Lissens, W, Van Maldergem, L, Vanhoenacker, F, Verbruggen, L & Van Hul, W 2000, 'Mutations in the gene encoding the latency-associated peptide of TGF-beta 1 cause camurati engelmann disease', Nat Genet, vol. 26, no. November, pp. 273-275. <http://www.ncbi.nlm.nih.gov/pubmed/11062463?ordinalpos=8&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DefaultReportPanel.Pubmed_RVDocSum>

Mutations in the gene encoding the latency-associated peptide of TGF-beta 1 cause camurati engelmann disease. / Janssens, K.; Gershoni-Baruch, R.; Guanabens, N.; Migone, N.; Ralston, S.; Bonduelle, Mary-Louise; Lissens, Willy; Van Maldergem, L.; Vanhoenacker, F.; Verbruggen, Leon; Van Hul, W.

In: Nat Genet, Vol. 26, No. November, 11.2000, p. 273-275.

Research output: Contribution to journal › Article › peer-review

TY - JOUR

T1 - Mutations in the gene encoding the latency-associated peptide of TGF-beta 1 cause camurati engelmann disease

AU - Janssens, K.

AU - Gershoni-Baruch, R.

AU - Guanabens, N.

AU - Migone, N.

AU - Ralston, S.

AU - Bonduelle, Mary-Louise

AU - Lissens, Willy

AU - Van Maldergem, L.

AU - Vanhoenacker, F.

AU - Verbruggen, Leon

AU - Van Hul, W.

N1 - Nat. Genet., 2000, 26(3): 273-275.

PY - 2000/11

Y1 - 2000/11

N2 - 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.

AB - 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.

KW - camurati engelmann disease

M3 - Article

VL - 26

SP - 273

EP - 275

JO - Nature Genetics

JF - Nature Genetics

SN - 1061-4036

IS - November

ER -

Mutations in the gene encoding the latency-associated peptide of TGF-beta 1 cause camurati engelmann disease

Abstract

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Keywords

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