Tissue-nonspecific alkaline phosphatase

Henthorn PS et al. (1992) Different missense mutations at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively inherited forms of mild and severe hypophosphatasia.

Lia-Baldini AS et al. (2008) A new mechanism of dominance in hypophosphatasia: the mutated protein can disturb the cell localization of the wild-type protein.

Hérasse M et al. (2002) Evidence of a founder effect for the tissue-nonspecific alkaline phosphatase (TNSALP) gene E174K mutation in hypophosphatasia patients.

Sergi C et al. (2001) Perinatal hypophosphatasia: radiology, pathology and molecular biology studies in a family harboring a splicing mutation (648+1A) and a novel missense mutation (N400S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene.

None (2000) Hypophosphatasia: the mutations in the tissue-nonspecific alkaline phosphatase gene.

Goseki-Sone M et al. (1998) Expression of the mutant (1735T-DEL) tissue-nonspecific alkaline phosphatase gene from hypophosphatasia patients.

Mornet E et al. () Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasia.

Ozono K et al. (1996) Identification of novel missense mutations (Phe310Leu and Gly439Arg) in a neonatal case of hypophosphatasia.

Orimo H et al. (1994) Novel missense and frameshift mutations in the tissue-nonspecific alkaline phosphatase gene in a Japanese patient with hypophosphatasia.

Waymire KG et al. (1995) Mice lacking tissue non-specific alkaline phosphatase die from seizures due to defective metabolism of vitamin B-6.

Goldstein DJ et al. (1980) Expression of alkaline phosphatase loci in mammalian tissues.

Harris H et al. (1974) The incidence of rare alleles determining electrophoretic variants: data on 43 enzyme loci in man.

Weiss MJ et al. (1986) Isolation and characterization of a cDNA encoding a human liver/bone/kidney-type alkaline phosphatase.

Hua JC et al. (1986) Partial sequencing of human adult, human fetal, and bovine intestinal alkaline phosphatases: comparison with the human placental and liver isozymes.

Swallow DM et al. (1986) Mapping of the gene coding for the human liver/bone/kidney isozyme of alkaline phosphatase to chromosome 1.

Smith M et al. (1988) Regional assignment of the gene for human liver/bone/kidney alkaline phosphatase to chromosome 1p36.1-p34.

Weiss MJ et al. (1988) Structure of the human liver/bone/kidney alkaline phosphatase gene.

Macfarlane JD et al. (1992) Phenotypically dissimilar hypophosphatasia in two sibships.

Moore CA et al. (1999) Mild autosomal dominant hypophosphatasia: in utero presentation in two families.

Hu JC et al. (2000) Characterization of a family with dominant hypophosphatasia.

Lia-Baldini AS et al. (2001) A molecular approach to dominance in hypophosphatasia.

Herasse M et al. (2003) Molecular study of three cases of odontohypophosphatasia resulting from heterozygosity for mutations in the tissue non-specific alkaline phosphatase gene.

Whyte MP et al. (2007) Adult hypophosphatasia treated with teriparatide.

Greenberg CR et al. (1993) A homoallelic Gly317-->Asp mutation in ALPL causes the perinatal (lethal) form of hypophosphatasia in Canadian mennonites.

Litmanovitz et al. (2002) Glu274Lys/Gly309Arg mutation of the tissue-nonspecific alkaline phosphatase gene in neonatal hypophosphatasia associated with convulsions.

Stevenson DA et al. (2008) Autosomal recessive hypophosphatasia manifesting in utero with long bone deformity but showing spontaneous postnatal improvement.

Zurutuza L et al. (1999) Correlations of genotype and phenotype in hypophosphatasia.

Weiss MJ et al. (1988) A missense mutation in the human liver/bone/kidney alkaline phosphatase gene causing a lethal form of hypophosphatasia.

Henthorn PS et al. (1992) Missense mutations of the tissue-nonspecific alkaline phosphatase gene in hypophosphatasia.

Fedde KN et al. (1990) Alkaline phosphatase (tissue-nonspecific isoenzyme) is a phosphoethanolamine and pyridoxal-5'-phosphate ectophosphatase: normal and hypophosphatasia fibroblast study.

Matsuura S et al. (1990) Characterization of a 5'-flanking region of the human liver/bone/kidney alkaline phosphatase gene: two kinds of mRNA from a single gene.

Whyte MP et al. (1988) Perinatal hypophosphatasia: tissue levels of vitamin B6 are unremarkable despite markedly increased circulating concentrations of pyridoxal-5'-phosphate. Evidence for an ectoenzyme role for tissue-nonspecific alkaline phosphatase.

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Orphanet article

NCBI article

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