Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Y-position collagen II mutation disrupts cartilage formation and skeletal development in a transgenic mouse model of spondyloepiphyseal dysplasia.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Jan 2002

Gaiser Kelly G, Maddox B Kerry, Bann James G, Boswell Bruce A, Keene Douglas R, Garofalo Silvio, Horton William A

Abstract excerpt

Mice were generated by pronuclear injection of a type II collagen transgene harboring an Arg789Cys (R789C) mutation that has been found in patients with spondyloepiphyseal dysplasia (SED). Expression was directed to cartilage by the murine Col2a1 promoter to examine the consequences of mutations involving the Y-position of the collagen helix Gly-X-Y triplet on skeletogenesis. The transgenic mice had very short...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Amino Acid Substitution
Share to Bone Development

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Cartilage

Share to Collagen Type II

Share to Exostoses, Multiple Hereditary

Share to Growth Plate

Share to Osteochondrodysplasias

Share to Point Mutation

Source

Identifiers

PMID: 11771668
DOI: 10.1359/jbmr.2002.17.1.39

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Y-position collagen II mutation disrupts cartilage formation and skeletal development in a transgenic mouse model of spondyloepiphyseal dysplasia.PMID 11771668Read ↗

Prospects and limitations of improving skeletal growth in a mouse model of spondyloepiphyseal dysplasia caused by R992C (p.R1192C) substitution in collagen II.Semantic proximity Read ↗

Mechanisms of aberrant organization of growth plates in conditional transgenic mouse model of spondyloepiphyseal dysplasia associated with the R992C substitution in collagen II.Semantic proximity Read ↗

Skeletal development in transgenic mice expressing a mutation at Gly574Ser of type II collagen.Semantic proximity Read ↗

Epiphyseal growth plate architecture is unaffected by early postnatal activation of the expression of R992C collagen II mutant.Semantic proximity Read ↗

Phenotypic and biochemical consequences of collagen X mutations in mice and humans.Semantic proximity Read ↗

Abnormal craniofacial morphology and cartilage structure in transgenic mice harboring a Gly --> Cys mutation in the cartilage-specific type II collagen gene.Semantic proximity Read ↗

A mouse model for spondyloepiphyseal dysplasia congenita with secondary osteoarthritis due to a Col2a1 mutation.Semantic proximity Read ↗

Depletion of cartilage collagen fibrils in mice carrying a dominant negative Col2a1 transgene affects chondrocyte differentiationSemantic proximity Read ↗

Type II collagen pro-alpha-chains containing a Gly574Ser mutation are not incorporated into the cartilage matrix of transgenic mice.Semantic proximity Read ↗

Chondrodysplasia in transgenic mice harboring a 15-amino acid deletion in the triple helical domain of pro alpha 1(II) collagen chain.Semantic proximity Read ↗

A missense mutation in the mouse Col2a1 gene causes spondyloepiphyseal dysplasia congenita, hearing loss, and retinoschisis.Semantic proximity Read ↗

Phenotypic characterization of Slc26a2 mutant mice reveals a multifactorial etiology of spondylolysis.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.