ReviewCalcified tissue international2019
Camurati-Engelmann Disease.
Review in Calcified tissue international, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
22 citing papers in PubMed, 38 citations in OpenAlex.
- Identification of a novel TGFB1 variant in a patient with Camurati-Engelmann disease responsive to alendronate.Rheumatology (Oxford, England) · 2025Article
- Direct and indirect effects of transforming growth factor-beta on osteoclast-mediated bone remodeling using a new in vitro bone matrix model.JBMR plus · 2025Article
- Insights into Natural History, Phenotypic, and Molecular Spectrum in a Large Cohort of Osteosclerotic Disorders.Calcified tissue international · 2025Article
- The triple code model for advancing research in rare and undiagnosed diseases beyond the base pairs.Epigenomics · 2025Article
- Case Report: The role of bone scans in detecting Ribbing disease.Frontiers in nuclear medicine · 2025Article
- Article
- Unveiling the uncommon: diagnostic journey of camurati-engelmann disease in a pediatric patient.Pediatric rheumatology online journal · 2024Article
- Diagnosing Camurati-Engelmann disease-the age of whole-exome sequencing.Rheumatology (Oxford, England) · 2023Article
- A case of papilledema in Camurati-Engelmann disease treated effectively with prednisolone.Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2023Article
- Review
- Clinical characteristics and identification of a novel TGFB1 variant in three unrelated Chinese families with Camurati-Engelmann disease.Molecular genetics & genomic medicine · 2022Article
- Clinical characteristics and the influence of rs1800470 in patients with Camurati-Engelmann disease.Frontiers in endocrinology · 2022Article
- Improvement of Bone Health and Initiation of Puberty Development in Camurati-Engelmann Disease With Glucocorticoid and Losartan Treatment: A Case Report and Review of Literature.Frontiers in endocrinology · 2022Review
- Significant Improvement After Surgery for a Symptomatic Osteoblastoma in a Patient with Camurati-Engelmann Disease: Case Report and Literature Review.Calcified tissue international · 2021Review
- Decompression of the internal auditory canal via the retrosigmoid approach in a patient with Camurati-Engelmann disease: illustrative case.Journal of neurosurgery. Case lessons · 2021Article
- Mechanisms of Bone Fragility: From Osteogenesis Imperfecta to Secondary Osteoporosis.International journal of molecular sciences · 2021Review
- Genetics Evaluation of Targeted Exome Sequencing in 223 Chinese Probands With Genetic Skeletal Dysplasias.Frontiers in cell and developmental biology · 2021Article
- A patient with Camurati-Engelmann disease presenting bilateral TMJ ankylosis: A case report.International journal of surgery case reports · 2020Article
- The Genetic Architecture of High Bone Mass.Frontiers in endocrinology · 2020Review
- Sclerosing bone dysplasias: a pictorial essay.Radiologia brasileiraArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Camurati-Engelmann disease or progressive diaphyseal dysplasia is a rare autosomal dominant sclerosing bone dysplasia. Mainly the skull and the diaphyses of the long tubular bones are affected. Clinically, the patients suffer from bone pain, easy fatigability, and decreased muscle mass and weakness in the proximal parts of the lower limbs resulting in gait disturbances. The disease-causing mutations are located within the TGFβ-1 gene and expected to or thought to disrupt the binding between TGFβ1 and its latency-associated peptide resulting in an increased signaling of the pathway and subsequently accelerated bone turnover. In preclinical studies, it was shown that targeting the type I receptor ameliorates the high bone turnover. In patients, treatment options are currently mostly limited to corticosteroids that may relieve the pain, and improve the muscle weakness and fatigue. In this review, the clinical and radiological characteristics as well as the molecular genetics of this condition are discussed.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.