ArticleJournal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research2003
A missense mutation in the mouse Col2a1 gene causes spondyloepiphyseal dysplasia congenita, hearing loss, and retinoschisis.
Article in Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 33 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
33 citing papers in PubMed, 70 citations in OpenAlex.
- CHD7 regulates craniofacial cartilage development via controlling HTR2B expression.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2024Article
- Collagen misfolding mutations: the contribution of the unfolded protein response to the molecular pathology.Connective tissue research · 2022Review
- Article
- A Novel missense mutation of COL2A1 gene in a large family with stickler syndrome type I.Journal of cellular and molecular medicine · 2022Article
- A novel COL2A1 mutation causing spondyloepiphyseal dysplasia congenita in a Chinese family.Journal of clinical laboratory analysis · 2021Article
- Hyaluronic acid is required for palatal shelf movement and its interaction with the tongue during palatal shelf elevation.Developmental biology · 2020Article
- Review
- Collagen type II suppresses articular chondrocyte hypertrophy and osteoarthritis progression by promoting integrin β1-SMAD1 interaction.Bone research · 2019Article
- A novelHuman genome variation · 2018Article
- Gene mutation spectrum and genotype-phenotype correlation in a cohort of Chinese osteogenesis imperfecta patients revealed by targeted next generation sequencing.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2017Article
- Fell Muir Lecture: Collagen fibril formation in vitro and in vivo.International journal of experimental pathology · 2017Review
- Endoplasmic reticulum stress in chondrodysplasias caused by mutations in collagen types II and X.Cell stress & chaperones · 2016Review
- Discovery and characterization of spontaneous mouse models of craniofacial dysmorphology.Developmental biology · 2016Article
- The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype.European journal of human genetics : EJHG · 2016Article
- Multigenic Delineation of Lower Jaw Deformity in Triploid Atlantic Salmon (Salmo salar L.).PloS one · 2016Article
- Loss of lysyl oxidase-like 3 causes cleft palate and spinal deformity in mice.Human molecular genetics · 2015Article
- Biomechanical evaluation of human and porcine auricular cartilage.The Laryngoscope · 2015Article
- Extracellular matrix and developing growth plate.Current osteoporosis reports · 2014Review
- A novel mutation in COL2A1 leading to spondyloepiphyseal dysplasia congenita in a three-generation family.European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society · 2014Article
- Article
Corrections and comments
- Erratum issued
Authors and funding
13 authors at 2 institutions in 1 country.
Funding
Abstract
unlabelledA missense mutation in the mouse Col2a1 gene has been discovered, resulting in a mouse phenotype with similarities to human spondyloepiphyseal dysplasia (SED) congenita. In addition, SED patients have been identified with a similar molecular mutation in human COL2A1. This mouse model offers a useful tool for molecular and biological studies of bone development and pathology.
introductionA new mouse autosomal recessive mutation has been discovered and named spondyloepiphyseal dysplasia congenita (gene symbol sedc). MATERIALS AND
methodsHomozygous sedc mice can be identified at birth by their small size and shortened trunk. Adults have shortened noses, dysplastic vertebrae, femora, and tibias, plus retinoschisis and hearing loss. The mutation was mapped to Chr15, and Col2a1 was identified as a candidate gene.
resultsSequence analyses revealed that the affected gene is Col2a1, which has a missense mutation at exon 48 causing an amino acid change of arginine to cysteine at position 1417. Two human patients with spondyloepiphyseal dysplasia (SED) congenita have been reported with the same amino acid substitution at position 789 in the human COL2A1 gene.
conclusionsThus, sedc/sedc mice provide a valuable model of human SED congenita with molecular and phenotypic homology. Further biochemical analyses, molecular modeling, and cell culture studies using sedc/sedc mice could provide insight into mechanisms of skeletal development dependent on Col2a1 and its role in fibril formation and cartilage template organization.
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.