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Correlations of genotype and phenotype in hypophosphatasia

Correlations of genotype and phenotype in hypophosphatasia

http://www.wikidata.org/entity/Q28144296

about

Orodental phenotype and genotype findings in all subtypes of hypophosphatasia Hypophosphatasia Pathophysiology of hypophosphatasia and the potential role of asfotase alfa Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa Hypophosphatasia: the mutations in the tissue-nonspecific alkaline phosphatase gene Novel ALPL genetic alteration associated with an odontohypophosphatasia phenotype.Chronic multifocal non-bacterial osteomyelitis in hypophosphatasia mimicking malignancy.Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate alleles.Assay format as a critical success factor for identification of novel inhibitor chemotypes of tissue-nonspecific alkaline phosphatase from high-throughput screening A novel missense mutation in the ALPL gene causes dysfunction of the protein.Enzyme replacement therapy for murine hypophosphatasia Tissue-nonspecific alkaline phosphatase and plasma cell membrane glycoprotein-1 are central antagonistic regulators of bone mineralization Structure, genomic DNA typing, and kinetic characterization of the D allozyme of placental alkaline phosphatase (PLAP/ALPP).Structural evidence of functional divergence in human alkaline phosphatases.Unexpected high intrafamilial phenotypic variability observed in hypophosphatasia.Alkaline phosphatase knock-out mice recapitulate the metabolic and skeletal defects of infantile hypophosphatasia Improvement of the skeletal and dental hypophosphatasia phenotype in Alpl-/- mice by administration of soluble (non-targeted) chimeric alkaline phosphatase.Structural studies of human alkaline phosphatase in complex with strontium: implication for its secondary effect in bones Promotion of vesicular zinc efflux by ZIP13 and its implications for spondylocheiro dysplastic Ehlers-Danlos syndrome.Autosomal recessive hypophosphatasia manifesting in utero with long bone deformity but showing spontaneous postnatal improvement.Endocytosis of glycosylphosphatidylinositol-anchored proteins Clinical utility gene card for: hypophosphatasia - update 2013.Bone mineralization-dependent craniosynostosis and craniofacial shape abnormalities in the mouse model of infantile hypophosphatasia.Case report: multiple fractures in a patient with mutations of TWIST1 and TNSALP Effective NSAID treatment indicates that hyperprostaglandinism is affecting the clinical severity of childhood hypophosphatasia.Retention at the cis-Golgi and delayed degradation of tissue-non-specific alkaline phosphatase with an Asn153-->Asp substitution, a cause of perinatal hypophosphatasia.Clinical utility gene card for: hypophosphatasia Tissue-nonspecific alkaline phosphatase is activated in enterocytes by oxidative stress via changes in glycosylation.Osteoblast tissue-nonspecific alkaline phosphatase antagonizes and regulates PC-1.A novel point mutation (C571T) in the tissue-non-specific alkaline phosphatase gene in a case of adult-type hypophosphatasia.Adult hypophosphatasia with painful periarticular calcification treated with surgical resection.Infantile loss of teeth: odontohypophosphatasia or childhood hypophosphatasia.Restoration of cellular function of mesenchymal stem cells from a hypophosphatasia patient.Molecular basis of perinatal hypophosphatasia with tissue-nonspecific alkaline phosphatase bearing a conservative replacement of valine by alanine at position 406. Structural importance of the crown domain.Enzyme replacement therapy in perinatal hypophosphatasia: Case report of a negative outcome and lessons for clinical practice.Evidence of a founder effect for the tissue-nonspecific alkaline phosphatase (TNSALP) gene E174K mutation in hypophosphatasia patients.Zinc transport complexes contribute to the homeostatic maintenance of secretory pathway function in vertebrate cells.Glycosylation-deficient mutations in tissue-nonspecific alkaline phosphatase impair its structure and function and are linked to infantile hypophosphatasia.Clinical and genetic aspects of hypophosphatasia in Japanese patients.Discordant fetal phenotype of hypophosphatasia in two siblings.

P2860

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P2860

Correlations of genotype and phenotype in hypophosphatasia

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1999 nî lūn-bûn

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1999年の論文

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Correlations of genotype and phenotype in hypophosphatasia

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Correlations of genotype and phenotype in hypophosphatasia

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Correlations of genotype and phenotype in hypophosphatasia

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Correlations of genotype and phenotype in hypophosphatasia

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Correlations of genotype and phenotype in hypophosphatasia

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Correlations of genotype and phenotype in hypophosphatasia

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Correlations of genotype and phenotype in hypophosphatasia

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Correlations of genotype and phenotype in hypophosphatasia

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Correlations of genotype and phenotype in hypophosphatasia

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