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
Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes.
Brünger T et al.
Genome Biology, 2025
Systematic review of reported association studies of monogenic genes and bladder cancer risk and confirmation analysis in a large population cohort.
Mian A et al.
Bjui Compass, 2023
Clinical characteristics and the influence of rs1800470 in patients with Camurati-Engelmann disease.
Liang H et al.
Frontiers in Endocrinology, 2022
Melorheostosis and Osteopoikilosis: A Review of Clinical Features and Pathogenesis.
Wordsworth P et al.
Calcified Tissue International, 2019
Bone involvement in monogenic autoinflammatory syndromes.
Bader-Meunier B et al.
Rheumatology (oxford, England), 2018
Orthopedic Manifestations of Type I Camurati-Engelmann Disease.
Yuldashev AJ et al.
Clinics in Orthopedic Surgery, 2017
Clinical diagnosis and mutation analysis of a Chinese family with Camurati-Engelmann disease.
Chen Y et al.
Molecular Medicine Reports, 2017
Treatment responses in five patients with Ribbing disease including two with 466C>T missense mutations in TGFβ1.
Savoie A et al.
Joint Bone Spine, 2013
Camurati-Engelmann disease with obesity in a newly identified family carrying a missense p.Arg156Cys mutation in the TGFB1 gene.
Collet C et al.
American Journal of Medical Genetics. Part A, 2013
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
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
Phenotypic variability at the TGF-beta1 locus in Camurati-Engelmann disease.
Campos-Xavier B et al.
Human Genetics, 2001