Gene Review:
ALPL - alkaline phosphatase, liver/bone/kidney
Homo sapiens
Synonyms:
AP-TNAP, APTNAP, Alkaline phosphatase liver/bone/kidney isozyme, Alkaline phosphatase, tissue-nonspecific isozyme, HOPS, ...
- A homoallelic Gly317-->Asp mutation in ALPL causes the perinatal (lethal) form of hypophosphatasia in Canadian mennonites. Greenberg, C.R., Taylor, C.L., Haworth, J.C., Seargeant, L.E., Philipps, S., Triggs-Raine, B., Chodirker, B.N. Genomics (1993)
- Functional analysis of the single nucleotide polymorphism (787T>C) in the tissue-nonspecific alkaline phosphatase gene associated with BMD. Goseki-Sone, M., Sogabe, N., Fukushi-Irie, M., Mizoi, L., Orimo, H., Suzuki, T., Nakamura, H., Orimo, H., Hosoi, T. J. Bone Miner. Res. (2005)
- Loss of alkaline phosphatase activity in meningiomas: a rapid histochemical technique indicating progression-associated deletion of a putative tumor suppressor gene on the distal part of the short arm of chromosome 1. Niedermayer, I., Feiden, W., Henn, W., Steilen-Gimbel, H., Steudel, W.I., Zang, K.D. J. Neuropathol. Exp. Neurol. (1997)
- Matrix vesicles in osteomalacic hypophosphatasia bone contain apatite-like mineral crystals. Anderson, H.C., Hsu, H.H., Morris, D.C., Fedde, K.N., Whyte, M.P. Am. J. Pathol. (1997)
- Hypophosphatasia: levels of bone alkaline phosphatase immunoreactivity in serum reflect disease severity. Whyte, M.P., Walkenhorst, D.A., Fedde, K.N., Henthorn, P.S., Hill, C.S. J. Clin. Endocrinol. Metab. (1996)
- Alkaline phosphatase: placental and tissue-nonspecific isoenzymes hydrolyze phosphoethanolamine, inorganic pyrophosphate, and pyridoxal 5'-phosphate. Substrate accumulation in carriers of hypophosphatasia corrects during pregnancy. Whyte, M.P., Landt, M., Ryan, L.M., Mulivor, R.A., Henthorn, P.S., Fedde, K.N., Mahuren, J.D., Coburn, S.P. J. Clin. Invest. (1995)
- 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. Whyte, M.P., Mahuren, J.D., Fedde, K.N., Cole, F.S., McCabe, E.R., Coburn, S.P. J. Clin. Invest. (1988)
- Different missense mutations at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively inherited forms of mild and severe hypophosphatasia. Henthorn, P.S., Raducha, M., Fedde, K.N., Lafferty, M.A., Whyte, M.P. Proc. Natl. Acad. Sci. U.S.A. (1992)
- Mapping of the gene coding for the human liver/bone/kidney isozyme of alkaline phosphatase to chromosome 1. Swallow, D.M., Povey, S., Parkar, M., Andrews, P.W., Harris, H., Pym, B., Goodfellow, P. Ann. Hum. Genet. (1986)
- Meningioma: a cytogenetic model of a complex benign human tumor, including data on 394 karyotyped cases. Zang, K.D. Cytogenet. Cell Genet. (2001)
- Denaturing gradient gel electrophoresis analysis of the tissue nonspecific alkaline phosphatase isoenzyme gene in hypophosphatasia. Mumm, S., Jones, J., Finnegan, P., Henthorn, P.S., Podgornik, M.N., Whyte, M.P. Mol. Genet. Metab. (2002)
- Bovine embryonic stem cells. Roach, M., Wang, L., Yang, X., Tian, X.C. Meth. Enzymol. (2006)
- Marrow cell transplantation for infantile hypophosphatasia. Whyte, M.P., Kurtzberg, J., McAlister, W.H., Mumm, S., Podgornik, M.N., Coburn, S.P., Ryan, L.M., Miller, C.R., Gottesman, G.S., Smith, A.K., Douville, J., Waters-Pick, B., Armstrong, R.D., Martin, P.L. J. Bone Miner. Res. (2003)
- Induction of heat labile alkaline phosphatase by butyrate in differentiating endometrial cells. Fleming, H., Begley, M., Campi, T., Condon, R., Dobyns, K., McDonagh, J., Wallace, S. J. Cell. Biochem. (1995)
- Xanthohumol, a novel anti-HIV-1 agent purified from Hops Humulus lupulus. Wang, Q., Ding, Z.H., Liu, J.K., Zheng, Y.T. Antiviral Res. (2004)
- Comparison of the in vitro estrogenic activities of compounds from hops (Humulus lupulus) and red clover (Trifolium pratense). Overk, C.R., Yao, P., Chadwick, L.R., Nikolic, D., Sun, Y., Cuendet, M.A., Deng, Y., Hedayat, A.S., Pauli, G.F., Farnsworth, N.R., van Breemen, R.B., Bolton, J.L. J. Agric. Food Chem. (2005)
- In vitro and ex vivo cyclooxygenase inhibition by a hops extract. Lemay, M., Murray, M.A., Davies, A., Roh-Schmidt, H., Randolph, R.K. Asia Pacific journal of clinical nutrition. (2004)
- The Na+/H+ antiporter: a "melt" polymorphism allows regional mapping to the short arm of chromosome 1. Dudley, C.R., Giuffra, L.A., Tippett, P., Kidd, K.K., Reeders, S.T. Hum. Genet. (1990)
- Urinary enzymes in acute renal failure. Chew, S.L., Lins, R.L., Daelemans, R., Nuyts, G.D., De Broe, M.E. Nephrol. Dial. Transplant. (1993)
- Characterization of Missense Mutations and Large Deletions in the ALPL Gene by Sequencing and Quantitative Multiplex PCR of Short Fragments. Spentchian, M., Brun-Heath, I., Taillandier, A., Fauvert, D., Serre, J.L., Simon-Bouy, B., Carvalho, F., Grochova, I., Mehta, S.G., Müller, G., Oberstein, S.L., Ogur, G., Sharif, S., Mornet, E. Genet. Test. (2006)
- Genetic predisposition to external apical root resorption in orthodontic patients: linkage of chromosome-18 marker. Al-Qawasmi, R.A., Hartsfield, J.K., Everett, E.T., Flury, L., Liu, L., Foroud, T.M., Macri, J.V., Roberts, W.E. J. Dent. Res. (2003)
- Correlations of genotype and phenotype in hypophosphatasia. Zurutuza, L., Muller, F., Gibrat, J.F., Taillandier, A., Simon-Bouy, B., Serre, J.L., Mornet, E. Hum. Mol. Genet. (1999)
- Hypophosphatasia: the mutations in the tissue-nonspecific alkaline phosphatase gene. Mornet, E. Hum. Mutat. (2000)
- PCR detection of a BclI RFLP in the human ALPL gene. Okuyama, T., Matsuo, N., Kudoh, J., Shimizu, N. Nucleic Acids Res. (1991)
- Phosphate depletion enhances bone morphogenetic protein-4 gene expression in a cultured mouse marrow stromal cell line ST2. Goseki-Sone, M., Yamada, A., Hamatani, R., Mizoi, L., Iimura, T., Ezawa, I. Biochem. Biophys. Res. Commun. (2002)