(Q39985557)

16 September 2017

Functional assay of the mutant tissue-nonspecific alkaline phosphatase gene using U2OS osteoblast-like cells (English)

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16 September 2017

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1

Hideo Orimo

1 reference

16 September 2017

2

Masae Goseki-Sone

1 reference

16 September 2017

3

Takayuki Hosoi

1 reference

16 September 2017

Takashi Shimada

4

1 reference

16 September 2017

1 May 2008

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Molecular Genetics and Metabolism

16 September 2017

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16 September 2017

94

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16 September 2017

3

1 reference

16 September 2017

375-381

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The human alkaline phosphatases: what we know and what we don't know

16 September 2017

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.03.015

Impaired calcification around matrix vesicles of growth plate and bone in alkaline phosphatase-deficient mice

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.03.015

Matrix vesicle plasma cell membrane glycoprotein-1 regulates mineralization by murine osteoblastic MC3T3 cells.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.03.015

Role of the mouse ank gene in control of tissue calcification and arthritis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.03.015

Tissue-nonspecific alkaline phosphatase and plasma cell membrane glycoprotein-1 are central antagonistic regulators of bone mineralization

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.03.015

Renal phosphate loss in hereditary and acquired disorders of bone mineralization.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.03.015

A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets. The HYP Consortium

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.03.015

Effects of phosphates on the expression of tissue-nonspecific alkaline phosphatase gene and phosphate-regulating genes in short-term cultures of human osteosarcoma cell lines

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.03.015

Alkaline phosphatase knock-out mice recapitulate the metabolic and skeletal defects of infantile hypophosphatasia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.03.015

Common mutations F310L and T1559del in the tissue-nonspecific alkaline phosphatase gene are related to distinct phenotypes in Japanese patients with hypophosphatasia.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.03.015

Evidence of a founder effect for the tissue-nonspecific alkaline phosphatase (TNSALP) gene E174K mutation in hypophosphatasia patients.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.03.015

Adult hypophosphatasia treated with teriparatide

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.03.015

Correlations of genotype and phenotype in hypophosphatasia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.03.015

Mutational analysis and functional correlation with phenotype in German patients with childhood-type hypophosphatasia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.03.015

Expression of the mutant (1735T-DEL) tissue-nonspecific alkaline phosphatase gene from hypophosphatasia patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.03.015

Kinetic characterization of hypophosphatasia mutations with physiological substrates

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.03.015

Expression and nature of the alkaline phosphatase gene in cultured osteosarcoma cells

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.03.015

Regulation of the human tissue-nonspecific alkaline phosphatase gene expression by all-trans-retinoic acid in SaOS-2 osteosarcoma cell line

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.03.015

Up-regulated expression of the phosphodiesterase nucleotide pyrophosphatase family member PC-1 is a marker and pathogenic factor for knee meniscal cartilage matrix calcification

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.03.015

Characterization of the mutant (A115V) tissue-nonspecific alkaline phosphatase gene from adult-type hypophosphatasia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.03.015

Functional analysis of the single nucleotide polymorphism (787T>C) in the tissue-nonspecific alkaline phosphatase gene associated with BMD.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.03.015

Hypophosphatasia: the mutations in the tissue-nonspecific alkaline phosphatase gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.03.015

Structural evidence for a functional role of human tissue nonspecific alkaline phosphatase in bone mineralization

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.03.015

Two established in vitro cell lines from human mesenchymal tumours

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.03.015

Causal link between nucleotide pyrophosphohydrolase overactivity and increased intracellular inorganic pyrophosphate generation demonstrated by transfection of cultured fibroblasts and osteoblasts with plasma cell membrane glycoprotein-1. Relevance

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.03.015

Novel missense and frameshift mutations in the tissue-nonspecific alkaline phosphatase gene in a Japanese patient with hypophosphatasia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.03.015

Severe perinatal hypophosphatasia due to homozygous deletion of T at nucleotide 1559 in the tissue nonspecific alkaline phosphatase gene.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.03.015

Prenatal genetic diagnosis of severe perinatal (lethal) hypophosphatasia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.03.015

Novel aggregate formation of a frame-shift mutant protein of tissue-nonspecific alkaline phosphatase is ascribed to three cysteine residues in the C-terminal extension. Retarded secretion and proteasomal degradation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.03.015

Possible interference between tissue-non-specific alkaline phosphatase with an Arg54-->Cys substitution and acounterpart with an Asp277-->Ala substitution found in a compound heterozygote associated with severe hypophosphatasia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.03.015

A novel point mutation (C571T) in the tissue-non-specific alkaline phosphatase gene in a case of adult-type hypophosphatasia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.03.015

Hypophosphatasia: identification of five novel missense mutations (G507A, G705A, A748G, T1155C, G1320A) in the tissue-nonspecific alkaline phosphatase gene among Japanese patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.03.015

Different missense mutations at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively inherited forms of mild and severe hypophosphatasia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.03.015

A homoallelic Gly317-->Asp mutation in ALPL causes the perinatal (lethal) form of hypophosphatasia in Canadian mennonites

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.03.015

10.1016/J.YMGME.2008.03.015

7 January 2021

Identifiers

DOI

1 reference

16 September 2017

1 reference

PubMed ID

18455459