ArticleGenes & diseases2019
A novel mutation in
Article in Genes & diseases, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis that pooled it.
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
19 citing papers in PubMed, 1 synthesis or guideline pooled it, 31 citations in OpenAlex.
- Dental Manifestations of Ehlers-Danlos Syndromes: A Systematic Review.Acta dermato-venereologica · 2020Pooled it
- Autosomal Dominant Obstructive Sleep Apnea Syndrome Due to the New Variant c.980_984dup in COL1A2: A Case Report.Cureus · 2026Article
- Expert consensus on the diagnosis and management of tooth developmental anomalies.International journal of oral science · 2026Review
- Salivary Proteomic Signatures Reveal Novel Mechanistic Insights into Moderate Dental Fluorosis Pathogenesis and Oral Homeostasis Disruption.Computational and structural biotechnology journal · 2026Article
- The tooth transformer® revolution: autologous dentin biomaterials and platelet concentrates in oral regeneration. A parallel narrative systematic review.Frontiers in dental medicine · 2025Review
- Progress in the pathogenic mechanism, histological characteristics of hereditary dentine disorders and clinical management strategies.Frontiers in cell and developmental biology · 2024Review
- Dental characteristics of patients with four different types of skeletal dysplasias.Clinical oral investigations · 2023Article
- Morphological and Ultrastructural Collagen Defects: Impact and Implications in Dentinogenesis Imperfecta.Dentistry journal · 2023Review
- Degradation of collagen I by activated C1s in periodontal Ehlers-Danlos Syndrome.Frontiers in immunology · 2023Article
- The Genes Involved in Dentinogenesis.Organogenesis · 2022Article
- Clinical and molecular features of patients with COL1-related disorders: Implications for the wider spectrum and the risk of vascular complications.American journal of medical genetics. Part A · 2022Article
- Carrying both COL1A2 and FBN2 gene heterozygous mutations results in a severe skeletal clinical phenotype: an affected family.BMC medical genomics · 2022Article
- Comparative transcriptome profiles of human dental pulp stem cells from maxillary and mandibular teeth.Scientific reports · 2022Article
- Review
- Oral manifestations of Ehlers-Danlos syndromes.American journal of medical genetics. Part C, Seminars in medical genetics · 2021Review
- MBTPS2, a membrane bound protease, underlying several distinct skin and bone disorders.Journal of translational medicine · 2021Review
- COL1-Related Disorders: Case Report and Review of Overlapping Syndromes.Frontiers in genetics · 2021Article
- Bone Disease in Patients with Ehlers-Danlos Syndromes.Current osteoporosis reports · 2020Review
- Stem Cell-Friendly Scaffold Biomaterials: Applications for Bone Tissue Engineering and Regenerative Medicine.Frontiers in bioengineering and biotechnology · 2020Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Osteogenesis imperfecta (OI) is mainly characterized by bone fragility and Ehlers-Danlos syndrome (EDS) by connective tissue defects. Mutations in
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.