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Osteogenesis imperfecta: translation of mutation to phenotype

Osteogenesis imperfecta: translation of mutation to phenotype

http://www.wikidata.org/entity/Q24515006

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Bisphosphonate therapy for osteogenesis imperfecta Bisphosphonate therapy for osteogenesis imperfecta CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis Candidate cell and matrix interaction domains on the collagen fibril, the predominant protein of vertebrates Amino acid substitutions of conserved residues in the carboxyl-terminal domain of the alpha 1(X) chain of type X collagen occur in two unrelated families with metaphyseal chondrodysplasia type Schmid Recent developments in osteogenesis imperfecta A COL2A1 mutation in achondrogenesis type II results in the replacement of type II collagen by type I and III collagens in cartilage Phenotypic variability and incomplete penetrance of spontaneous fractures in an inbred strain of transgenic mice expressing a mutated collagen gene (COL1A1)The molecular basis of genetic dominance Nanoscale morphology of Type I collagen is altered in the Brtl mouse model of Osteogenesis Imperfecta Recombinant collagen studies link the severe conformational changes induced by osteogenesis imperfecta mutations to the disruption of a set of interchain salt bridges.Osteogenesis imperfecta type III: mutations in the type I collagen structural genes, COL1A1 and COL1A2, are not necessarily responsible Determination of a new collagen type I alpha 2 gene point mutation which causes a Gly640 Cys substitution in osteogenesis imperfecta and prenatal diagnosis by DNA hybridisation.Perinatal lethal osteogenesis imperfecta.Disrupted growth plates and progressive deformities in osteogenesis imperfecta as a result of the substitution of glycine 585 by valine in the alpha 2 (I) chain of type I collagen Arachnoid cyst and chronic subdural haematoma in a child with osteogenesis imperfecta type III resulting from the substitution of glycine 1006 by alanine in the pro alpha 2(I) chain of type I procollagen Defective splicing of mRNA from one COL1A1 allele of type I collagen in nondeforming (type I) osteogenesis imperfecta.High proportion of mutant osteoblasts is compatible with normal skeletal function in mosaic carriers of osteogenesis imperfecta.Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans.Mapping the ligand-binding sites and disease-associated mutations on the most abundant protein in the human, type I collagen.Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal recessive Alport syndrome.Effects of tissue hydration on nanoscale structural morphology and mechanics of individual Type I collagen fibrils in the Brtl mouse model of Osteogenesis Imperfecta.Bisphosphonate therapy for osteogenesis imperfecta.Osteogenesis imperfecta type I is commonly due to a COL1A1 null allele of type I collagen.Partial isodisomy for maternal chromosome 7 and short stature in an individual with a mutation at the COL1A2 locus Destabilization of osteogenesis imperfecta collagen-like model peptides correlates with the identity of the residue replacing glycine Osteogenesis Imperfecta: the audiological phenotype lacks correlation with the genotype.Reduced diaphyseal strength associated with high intracortical vascular porosity within long bones of children with osteogenesis imperfecta.Molecular and Genetic Analyses of Collagen Type IV Mutant Mouse Models of Spontaneous Intracerebral Hemorrhage Identify Mechanisms for Stroke Prevention Glycine substitutions in the triple-helical region of type VII collagen result in a spectrum of dystrophic epidermolysis bullosa phenotypes and patterns of inheritance.Osteogenesis imperfecta type I: molecular heterogeneity for COL1A1 null alleles of type I collagen β-Aminopropionitrile-Induced Reduction in Enzymatic Crosslinking Causes In Vitro Changes in Collagen Morphology and Molecular Composition.Structure-mechanics relationships of collagen fibrils in the osteogenesis imperfecta mouse model.Transplanted bone marrow mononuclear cells and MSCs impart clinical benefit to children with osteogenesis imperfecta through different mechanisms.Osteopenia in 37 members of seven families: analysis based on a model of dominant inheritance.In vitro mutagenesis of Caenorhabditis elegans cuticle collagens identifies a potential subtilisin-like protease cleavage site and demonstrates that carboxyl domain disulfide bonding is required for normal function but not assembly.Bone density in osteogenesis imperfecta may well be normal Mapping structural landmarks, ligand binding sites, and missense mutations to the collagen IV heterotrimers predicts major functional domains, novel interactions, and variation in phenotypes in inherited diseases affecting basement membranes.Causes of death in osteogenesis imperfecta Bone mineralization in an osteogenesis imperfecta mouse model studied by small-angle x-ray scattering.

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P2860

Osteogenesis imperfecta: translation of mutation to phenotype

http://www.wikidata.org/entity/Q24515006

description

1991 nî lūn-bûn

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1991 թուականի Յուլիսին հրատարակուած գիտական յօդուած

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1991 թվականի հուլիսին հրատարակված գիտական հոդված

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1991年の論文

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1991年論文

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1991年論文

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1991年論文

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1991年論文

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1991年論文

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1991年论文

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Osteogenesis imperfecta: translation of mutation to phenotype

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Osteogenesis imperfecta: translation of mutation to phenotype

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Osteogenesis imperfecta: translation of mutation to phenotype

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Osteogenesis imperfecta: translation of mutation to phenotype

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Osteogenesis imperfecta: translation of mutation to phenotype

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Osteogenesis imperfecta: translation of mutation to phenotype

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Osteogenesis imperfecta: translation of mutation to phenotype

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Osteogenesis imperfecta: translation of mutation to phenotype

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Osteogenesis imperfecta: translation of mutation to phenotype

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Osteogenesis imperfecta: translation of mutation to phenotype

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Osteogenesis imperfecta: translation of mutation to phenotype

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Osteogenesis imperfecta: translation of mutation to phenotype

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P1433

Journal of Medical Genetics

P1476

Osteogenesis imperfecta: translation of mutation to phenotype

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P2093

G A Wallis

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M C Willing

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P H Byers

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P2860

Genetic heterogeneity in osteogenesis imperfecta.

Identification of mutations in the COL4A5 collagen gene in Alport syndrome

A base substitution in the exon of a collagen gene causes alternative splicing and generates a structurally abnormal polypeptide in a patient with Ehlers-Danlos syndrome type VII

Single base mutation in the pro alpha 2(I) collagen gene that causes efficient splicing of RNA from exon 27 to exon 29 and synthesis of a shortened but in-frame pro alpha 2(I) chain.

Mutations linked to the pro alpha 2(I) collagen gene are responsible for several cases of osteogenesis imperfecta type I

Osteogenesis imperfecta type IIA: evidence for dominant inheritance

Frameshift mutation near the 3' end of the COL1A1 gene of type I collagen predicts an elongated Pro alpha 1(I) chain and results in osteogenesis imperfecta type I.

Arginine for glycine substitution in the triple-helical domain of the products of one alpha 2(I) collagen allele (COL1A2) produces the osteogenesis imperfecta type IV phenotype.

A lethal variant of osteogenesis imperfecta has a single base mutation that substitutes cysteine for glycine 904 of the alpha 1(I) chain of type I procollagen. The asymptomatic mother has an unidentified mutation producing an overmodified and unstab

Distinct biochemical phenotypes predict clinical severity in nonlethal variants of osteogenesis imperfecta.

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433-42

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scholarly article

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2611404

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10.1136/JMG.28.7.433

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P433

7

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28

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1991-07-01T00:00:00Z

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P5875

21261301

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P698

1895312

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P921

osteogenesis imperfecta

P932

1016951

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