Identification of the molecular defect in a family with spondyloepiphyseal dysplasia.
about
Familial Scheuermann disease: a genetic and linkage studyThe molecular basis of hereditary 1,25-dihydroxyvitamin D3 resistant rickets in seven related familiesLinkage of early-onset osteoarthritis and chondrocalcinosis to human chromosome 8qReport of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorderMechanisms and models of endoplasmic reticulum stress in chondrodysplasiaWidely distributed mutations in the COL2A1 gene produce achondrogenesis type II/hypochondrogenesisAdvances in Skeletal Dysplasia GeneticsStructurally abnormal type II collagen in a severe form of Kniest dysplasia caused by an exon 24 skipping mutationA COL2A1 mutation in achondrogenesis type II results in the replacement of type II collagen by type I and III collagens in cartilageMouse Snail family transcription repressors regulate chondrocyte, extracellular matrix, type II collagen, and aggrecanGenetics and osteoarthritis: exposing the iceberg.Genetic aspects of familial osteoarthritisTandem duplication within a type II collagen gene (COL2A1) exon in an individual with spondyloepiphyseal dysplasia.The clinical features of spondyloepiphyseal dysplasia congenita resulting from the substitution of glycine 997 by serine in the alpha 1(II) chain of type II collagenSingle base mutation in the type II procollagen gene (COL2A1) as a cause of primary osteoarthritis associated with a mild chondrodysplasia.A missense mutation in the mouse Col2a1 gene causes spondyloepiphyseal dysplasia congenita, hearing loss, and retinoschisisDiastrophic dysplasia gene maps to the distal long arm of chromosome 5Positional cloning of the gene LIMBIN responsible for bovine chondrodysplastic dwarfism.An inbred line of transgenic mice expressing an internally deleted gene for type II procollagen (COL2A1). Young mice have a variable phenotype of a chondrodysplasia and older mice have osteoarthritic changes in jointsCartilage expression of a type II collagen mutation in an inherited form of osteoarthritis associated with a mild chondrodysplasia.A second mutation in the type II procollagen gene (COL2AI) causing stickler syndrome (arthro-ophthalmopathy) is also a premature termination codonMutation in type II procollagen (COL2A1) that substitutes aspartate for glycine alpha 1-67 and that causes cataracts and retinal detachment: evidence for molecular heterogeneity in the Wagner syndrome and the Stickler syndrome (arthro-ophthalmopathyMild spondyloepiphyseal dysplasia (Namaqualand type): genetic linkage to the type II collagen gene COL2A1Characterization of a large deletion associated with a polymorphic block of repeated dinucleotides in the type III procollagen gene (COL3A1) of a patient with Ehlers-Danlos syndrome type IV.Spondyloepiphyseal dysplasia congenita: genetic linkage to type II collagen (COL2AI)An RNA-splicing mutation (G+5IVS20) in the type II collagen gene (COL2A1) in a family with spondyloepiphyseal dysplasia congenita.Differential allelic expression of the type II collagen gene (COL2A1) in osteoarthritic cartilageExpression, in cartilage, of a 7-amino-acid deletion in type II collagen from two unrelated individuals with Kniest dysplasia.Molecular basis of androgen resistance.Osteoarthritis associated with mild chondrodysplasia in transgenic mice expressing alpha 1(IX) collagen chains with a central deletion.Transgenic mice as models for heritable diseases.Human COL2A1-directed SV40 T antigen expression in transgenic and chimeric mice results in abnormal skeletal development.Dwarfism and age-associated spinal degeneration of heterozygote cmd mice defective in aggrecan.Chondrodysplasia in transgenic mice harboring a 15-amino acid deletion in the triple helical domain of pro alpha 1(II) collagen chainThe heterozygous disproportionate micromelia (dmm) mouse: morphological changes in fetal cartilage precede postnatal dwarfism and compared with lethal homozygotes can explain the mild phenotypeCharacterization of a type II collagen gene (COL2A1) mutation identified in cultured chondrocytes from human hypochondrogenesis.Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy).Expression of a partially deleted gene of human type II procollagen (COL2A1) in transgenic mice produces a chondrodysplasia.Reduced amounts of cartilage collagen fibrils and growth plate anomalies in transgenic mice harboring a glycine-to-cysteine mutation in the mouse type II procollagen alpha 1-chain gene.Loss of DDRGK1 modulates SOX9 ubiquitination in spondyloepimetaphyseal dysplasia.
P2860
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P2860
Identification of the molecular defect in a family with spondyloepiphyseal dysplasia.
description
1989 nî lūn-bûn
@nan
1989年の論文
@ja
1989年論文
@yue
1989年論文
@zh-hant
1989年論文
@zh-hk
1989年論文
@zh-mo
1989年論文
@zh-tw
1989年论文
@wuu
1989年论文
@zh
1989年论文
@zh-cn
name
Identification of the molecular defect in a family with spondyloepiphyseal dysplasia.
@en
type
label
Identification of the molecular defect in a family with spondyloepiphyseal dysplasia.
@en
prefLabel
Identification of the molecular defect in a family with spondyloepiphyseal dysplasia.
@en
P2093
P356
P1433
P1476
Identification of the molecular defect in a family with spondyloepiphyseal dysplasia.
@en
P2093
P304
P356
10.1126/SCIENCE.2543071
P407
P577
1989-05-01T00:00:00Z