Tandem duplication within a type II collagen gene (COL2A1) exon in an individual with spondyloepiphyseal dysplasia.
about
Molecular genetics of neurofibromatosis type 1 (NF1)Linkage 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 disorderGenetics and osteoarthritis: exposing the iceberg.Genetic aspects of familial osteoarthritisThe clinical features of spondyloepiphyseal dysplasia congenita resulting from the substitution of glycine 997 by serine in the alpha 1(II) chain of type II collagenA 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 5An 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.Germ-line mutational analysis of the TSC2 gene in 90 tuberous-sclerosis patients.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-ophthalmopathyTandem duplication within a neurofibromatosis type 1 (NF1) gene exon in a family with features of Watson syndrome and Noonan syndrome.Mild spondyloepiphyseal dysplasia (Namaqualand type): genetic linkage to the type II collagen gene COL2A1An RNA-splicing mutation (G+5IVS20) in the type II collagen gene (COL2A1) in a family with spondyloepiphyseal dysplasia congenita.Expression, in cartilage, of a 7-amino-acid deletion in type II collagen from two unrelated individuals with Kniest dysplasia.Multigenic Delineation of Lower Jaw Deformity in Triploid Atlantic Salmon (Salmo salar L.).Transgenic mice as models for heritable diseases.Human COL2A1-directed SV40 T antigen expression in transgenic and chimeric mice results in abnormal skeletal development.Chondrodysplasia in transgenic mice harboring a 15-amino acid deletion in the triple helical domain of pro alpha 1(II) collagen chainEssential role of lysyl oxidases in notochord development.Characterization 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.Type II collagen mutations in rare and common cartilage diseases.Autoimmune recognition of cartilage collagens.Collagens and their abnormalities in a wide spectrum of diseases.Mutations, malformations and mortality.Mechanisms of tandem duplication in the Duchenne muscular dystrophy gene include both homologous and nonhomologous intrachromosomal recombination.Synthesis of recombinant human procollagen II in a stably transfected tumour cell line (HT1080).A type I collagen reporter gene construct for protein engineering studies. Functional equivalence of transfected reporter COL1A1 and endogenous gene products during biosynthesis and in vitro extracellular matrix accumulation.Structural analysis of the regulatory elements of the type-II procollagen gene. Conservation of promoter and first intron sequences between human and mouse.Substitution of aspartic acid for glycine at position 310 in type II collagen produces achondrogenesis II, and substitution of serine at position 805 produces hypochondrogenesis: analysis of genotype-phenotype relationships.The triple helix of collagens - an ancient protein structure that enabled animal multicellularity and tissue evolution.Meta-Analysis of gross insertions causing human genetic disease: Novel mutational mechanisms and the role of replication slippage
P2860
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P2860
Tandem duplication within a type II collagen gene (COL2A1) exon in an individual with spondyloepiphyseal dysplasia.
description
1990 nî lūn-bûn
@nan
1990 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
1990 թվականի մայիսին հրատարակված գիտական հոդված
@hy
1990年の論文
@ja
1990年論文
@yue
1990年論文
@zh-hant
1990年論文
@zh-hk
1990年論文
@zh-mo
1990年論文
@zh-tw
1990年论文
@wuu
name
Tandem duplication within a ty ...... spondyloepiphyseal dysplasia.
@ast
Tandem duplication within a ty ...... spondyloepiphyseal dysplasia.
@en
type
label
Tandem duplication within a ty ...... spondyloepiphyseal dysplasia.
@ast
Tandem duplication within a ty ...... spondyloepiphyseal dysplasia.
@en
prefLabel
Tandem duplication within a ty ...... spondyloepiphyseal dysplasia.
@ast
Tandem duplication within a ty ...... spondyloepiphyseal dysplasia.
@en
P2093
P2860
P356
P1476
Tandem duplication within a ty ...... spondyloepiphyseal dysplasia.
@en
P2093
P2860
P304
P356
10.1073/PNAS.87.10.3889
P407
P577
1990-05-01T00:00:00Z