Associated Papers
The roles and regulatory mechanisms of TGF-β and BMP signaling in bone and cartilage development, homeostasis and disease.
Wu M et al.
Cell Research, 2024
The Impact of Genetic Variability of TGF-Beta Signaling Biomarkers in Major Craniofacial Syndromes.
Yapijakis C et al.
Advances in Experimental Medicine and Biology, 2023
An ENU-induced p.C225S missense mutation in the mouse Tgfb1 gene does not cause Camurati-Engelmann disease-like skeletal phenotypes.
Ichimura S et al.
Experimental Animals, 2017
Clinical proteome informatics workbench detects pathogenic mutations in hereditary amyloidoses.
Dasari S et al.
Journal of Proteome Research, 2014
Transforming growth factor-β1 gene mutations and phenotypes in pediatric patients with Camurati‑Engelmann disease.
Wang C et al.
Molecular Medicine Reports, 2013
Camurati-Engelmann disease: unique variant featuring a novel mutation in TGFβ1 encoding transforming growth factor beta 1 and a missense change in TNFSF11 encoding RANK ligand.
Whyte MP et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2011
Painful lower extremities related to diaphyseal dysplasia: genetic diagnosis and treatment.
Ribeiro SL et al.
The Journal of Rheumatology, 2009
A novel mutation of TGF beta1 in a Chinese family with Camurati-Engelmann disease.
Wu S et al.
Bone, 2007
The new bone biology: pathologic, molecular, and clinical correlates.
Cohen MM
American Journal of Medical Genetics. Part A, 2006
Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment.
Janssens K et al.
Journal of Medical Genetics, 2006
Camurati-Engelmann disease (progressive diaphyseal dysplasia) in a Moroccan family.
Simsek S et al.
Osteoporosis International : a Journal Established as Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the Usa, 2005
Marked phenotypic variability in progressive diaphyseal dysplasia (Camurati-Engelmann disease): report of a four-generation pedigree, identification of a mutation in TGFB1, and review.
Wallace SE et al.
American Journal of Medical Genetics. Part A, 2004
Transforming growth factor-beta 1 mutations in Camurati-Engelmann disease lead to increased signaling by altering either activation or secretion of the mutant protein.
Janssens K et al.
The Journal of Biological Chemistry, 2003