Camurati-Engelmann Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Camurati-Engelmann disease (OMIM 31300) is a rare cranio-tubular bone dysplasia characterized by osteosclerosis of the long bones and skull caused by dominantly-inherited mutations in the transforming growth factor beta 1 (TGFB1) gene.
|
30690794 |
2019 |
Camurati-Engelmann Syndrome
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
We have demonstrated that TGF-β1 is a coupling factor for bone remodeling and is aberrantly activated in CED.
|
30091466 |
2018 |
Camurati-Engelmann Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Camurati-Engelmann disease (CED) is a rare autosomal dominant bone disorder caused by a mutation in transforming growth factor β1 (TGFβ1).
|
27959412 |
2017 |
Camurati-Engelmann Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Mutations in the gene (TGFB1) that encodes transforming growth factor-β1 (TGF-β1) are causative for CED.
|
27928112 |
2017 |
Camurati-Engelmann Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Camurati-Engelmann disease (CED; MIM 131300), or progressive diaphyseal dysplasia, is a rare autosomal dominant bone disease, which is caused by mutations in the transforming growth factor‑β1 (TGFβ1) gene on chromosome 19q13.1‑13.3.
|
27484238 |
2016 |
Camurati-Engelmann Syndrome
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
We hypothesized that due to its anti-TGFβ1 activity, losartan might be beneficial in Camurati-Engelmann disease.
|
25099136 |
2014 |
Camurati-Engelmann Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The results of this study suggest that abnormal bone turnover marker levels, typical radiological findings and mutations in the TGFβ1 gene are three important factors in the diagnosis of sporadic CED cases.
|
23503840 |
2013 |
Camurati-Engelmann Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Camurati-Engelmann disease with obesity in a newly identified family carrying a missense p.Arg156Cys mutation in the TGFB1 gene.
|
23824952 |
2013 |
Camurati-Engelmann Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Of our five patients, two had a heterozygous missense mutation in exon 2 of TGFβ1 (c.466C>T, p.Arg156Cys, previously described in Camurati-Engelmann syndrome) and three had commonly found TGFβ1 polymorphisms.
|
23453470 |
2013 |
Camurati-Engelmann Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Genetic analysis of the TGFB1 gene revealed a heterozygous missense mutation p.R218C in exon 4 of chromosome 19q13.1-q13.3 in a 14-year-old girl who presented with typical symptoms of CED, hyperprolactinaemia and menstrual irregularity.
|
23729546 |
2013 |
Camurati-Engelmann Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Both individuals were heterozygous for a novel 12-bp duplication (c.27_38dup, p.L10_L13dup) in exon 1 of TGFβ1, predicting four additional leucine residues in the latency-associated-peptide segment of TGFβ1, consistent with CED.
|
21541994 |
2011 |
Camurati-Engelmann Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The first Korean case of Camurati-Engelmann disease (progressive diaphyseal dysplasia) confirmed by TGFB1 gene mutation analysis.
|
19654961 |
2009 |
Camurati-Engelmann Syndrome
|
0.800 |
GeneticVariation
|
disease |
LHGDN |
It has been previously reported that CED is caused by mutations of the transforming growth factor beta 1 (TGF beta1) gene on chromosome 19q13.1-q13.3.
|
17433803 |
2007 |
Camurati-Engelmann Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
It has been previously reported that CED is caused by mutations of the transforming growth factor beta 1 (TGF beta1) gene on chromosome 19q13.1-q13.3.
|
17433803 |
2007 |
Camurati-Engelmann Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
For all 100 cases, molecular evidence for CED was available, as a mutation was detected in TGFB1, the gene encoding transforming growth factor (TGF) beta1.
|
15894597 |
2006 |
Camurati-Engelmann Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in transforming growth factor beta-1 (TGFB1) were recently found in patients with PDD.
|
15326622 |
2004 |
Camurati-Engelmann Syndrome
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
TGFB1 mutations in four new families with Camurati-Engelmann disease: confirmation of independently arising LAP-domain-specific mutations.
|
15103729 |
2004 |
Camurati-Engelmann Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We and others reported that mutations in TGFB1 cause Camurati-Engelmann disease, a rare bone disorder.
|
12493741 |
2003 |
Camurati-Engelmann Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
A mutation affecting the latency-associated peptide of TGFbeta1 in Camurati-Engelmann disease enhances osteoclast formation in vitro.
|
12843182 |
2003 |
Camurati-Engelmann Syndrome
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Osteoclast formation was enhanced approximately 5-fold (P < 0.001) and bone resorption approximately 10-fold (P < 0.001) in CED patients, and the increase in osteoclast formation was inhibited by soluble TGFbeta type II receptor.
|
12843182 |
2003 |
Camurati-Engelmann Syndrome
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Our data indicate that the mutations in the signal peptide and latency-associated peptide facilitate TGF-beta1 signaling, thus causing Camurati-Engelmann disease.
|
12493741 |
2003 |
Camurati-Engelmann Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
We recently found mutations of the transforming growth factor beta 1 (TGF-beta1) gene (TGFB1) in 9 families, in which progressive diaphyseal dysplasia (Camurati-Engelmann disease) is segregating [Kinoshita et al., 2000: Nat Genetics 26:19-20].
|
11807860 |
2002 |
Camurati-Engelmann Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We conclude that CED is a clinically variable condition and that this clinical variability is not accounted for by polymorphisms at the TGF-beta1 locus.
|
11810278 |
2001 |
Camurati-Engelmann Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We recently reported that three different missense mutations (R218H, R218C, and C225R) of beta1-LAP cause the Camurati-Engelmann disease (CED), an autosomal dominant disorder characterized by hyperosteosis and sclerosis of the diaphysis of the long bones.
|
11278244 |
2001 |
Camurati-Engelmann Syndrome
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in the gene encoding the latency-associated peptide of TGF-beta 1 cause Camurati-Engelmann disease.
|
11062463 |
2000 |