Associated Papers
Molecular insights into TGF-B signalling pathway disruption by non-synonymous SNPs variants in COPD: an in silico and molecular dynamics simulation study.
Mahajan N et al.
Journal of Biomolecular Structure & Dynamics, 2025
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
Computational analysis of prodomain cysteines in human TGF-β proteins reveals frequent loss of disulfide-dependent regulation in tumors.
Daly SM et al.
G3 (bethesda, Md.), 2022
Clinical characteristics and identification of a novel TGFB1 variant in three unrelated Chinese families with Camurati-Engelmann disease.
Tao XH et al.
Molecular Genetics & Genomic Medicine, 2022
Clinical characteristics and the influence of rs1800470 in patients with Camurati-Engelmann disease.
Liang H et al.
Frontiers in Endocrinology, 2022
Observations on the Natural History of Camurati-Engelmann Disease.
Hughes P et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2019
Clinical characteristics and treatment outcomes in Camurati-Engelmann disease: A case series.
Kim YM et al.
Medicine, 2018
Characterization of genetic aberrations in a single case of metastatic thymic adenocarcinoma.
Lee Y et al.
Bmc Cancer, 2017
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
Genetic analysis of the mammalian transforming growth factor-beta superfamily.
Chang H et al.
Endocrine Reviews, 2002
Phenotypic variability at the TGF-beta1 locus in Camurati-Engelmann disease.
Campos-Xavier B et al.
Human Genetics, 2001
Domain-specific mutations of a transforming growth factor (TGF)-beta 1 latency-associated peptide cause Camurati-Engelmann disease because of the formation of a constitutively active form of TGF-beta 1.
Saito T et al.
The Journal of Biological Chemistry, 2001