Associated Papers
Clinical Characteristics and Management of Rare Metabolic Bone Diseases: An Audit of the Rare Metabolic Bone Disease Registry of India.
Sangar M et al.
Calcified Tissue International, 2025
Transforming growth factor, beta-2 gene mutation causes autosomal dominant Camurati-Engelmann disease, type 2 (OMIM % 606631).
Mumm S et al.
Bone, 2025
Heterozygous mutations in the straitjacket region of the latency-associated peptide domain of TGFB2 cause Camurati-Engelmann disease type II.
Wang Z et al.
Journal of Human Genetics, 2024
Phenotypic Variability in Camurati-Engelmann Disease: A Case Report of a Family with the c.653G>A Pathogenic Variant in the TGFB1 Gene.
Campos T et al.
Genes, 2024
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
Camurati-Engelmann Disease: A Case-Based Review About an Ultrarare Bone Dysplasia.
Klemm P et al.
European Journal of Rheumatology, 2023
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
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
Targeted deep sequencing revealed variants in cell-free DNA of hormone receptor-positive metastatic breast cancer patients.
Keup C et al.
Cellular and Molecular Life Sciences : Cmls, 2020
Endoplasmic Reticulum Associated Protein Degradation (ERAD) in the Pathology of Diseases Related to TGFβ Signaling Pathway: Future Therapeutic Perspectives.
Gariballa N et al.
Frontiers in Molecular Biosciences, 2020
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
Camurati-Engelmann disease: a case report from sub-Saharan Africa.
Mwasamwaja AO et al.
Oxford Medical Case Reports, 2018
Clinical characteristics and treatment outcomes in Camurati-Engelmann disease: A case series.
Kim YM et al.
Medicine, 2018
Human TGF-β1 deficiency causes severe inflammatory bowel disease and encephalopathy.
Kotlarz D et al.
Nature Genetics, 2018
Camurati-Engelmann disease-a rare cause of tetany identified on bone scintigraphy: A case report.
Xie P et al.
Medicine, 2017
Characterization of genetic aberrations in a single case of metastatic thymic adenocarcinoma.
Lee Y et al.
Bmc Cancer, 2017
Orthopedic Manifestations of Type I Camurati-Engelmann Disease.
Yuldashev AJ et al.
Clinics in Orthopedic Surgery, 2017
Mild Camurati‑Engelamann disease presenting with exophthalmos as the first and only manifestation: A case report.
Jiajue R et al.
Molecular Medicine Reports, 2016
A case of infantile osteopetrosis: The radioclinical features with literature update.
El-Sobky TA et al.
Bone Reports, 2016
Positive effects of an angiotensin II type 1 receptor antagonist in Camurati-Engelmann disease: a single case observation.
Simsek-Kiper PO et al.
American Journal of Medical Genetics. Part A, 2014
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
A family with Camurati-Engelman disease. The role of the missense p.R218C mutation in TGFB1 in bones and endocrine glands.
Toumba M et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2013
A family with Camurati-Engelman disease: the role of the missense p.R218C mutation in TGFbeta1 in bones and endocrine glands.
Toumba M et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2013
Camurati-Engelmann disease--a rare cause of bone pain.
Mundra V et al.
Connecticut Medicine, 2012
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
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
Painful lower extremities related to diaphyseal dysplasia: genetic diagnosis and treatment.
Ribeiro SL et al.
The Journal of Rheumatology, 2009
Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells.
de Beaucoudrey L et al.
The Journal of Experimental Medicine, 2008
Bone biopsy and densitometry findings in a child with Camurati-Engelmann disease.
Bondestam J et al.
Clinical Rheumatology, 2007
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
Mutations of the anti-mullerian hormone gene in patients with persistent mullerian duct syndrome: biosynthesis, secretion, and processing of the abnormal proteins and analysis using a three-dimensional model.
Belville C et al.
Molecular Endocrinology (baltimore, Md.), 2004
A mutation affecting the latency-associated peptide of TGFbeta1 in Camurati-Engelmann disease enhances osteoclast formation in vitro.
McGowan NW et al.
The Journal of Clinical Endocrinology and Metabolism, 2003
Camurati-Engelmann disease. Review of radioclinical features.
Vanhoenacker FM et al.
Acta Radiologica (stockholm, Sweden : 1987), 2003
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
Camurati-Engelmann Disease with Good Treatment Response to Losartan.
Abdulla MC
Indian Journal of Nuclear Medicine : Ijnm : the Official Journal of the Society of Nuclear Medicine, India, 0
Camurati-Engelmann Disease Complicated by Hypopituitarism: Management Challenges and Literature Review of Outcomes With Bisphosphonates.
Das L et al.
Aace Clinical Case Reports, 0