SEARCH

SEARCH BY CITATION

References

  • Baab, D. A., Page, R. C., Ebersole, J. L., Williams, B. L. & Scott, C. R. (1986) Laboratory studies of a family manifesting premature exfoliation of deciduous teeth. J Clin Periodontol 13, 677683.
  • Bouchard, P., Boutouyrie, P., Mattout, C. & Bourgeois, D. (2006) Risk assessment for severe clinical attachment loss in an adult population. J Periodontol 77, 479489.
  • Brun-Heath, I., Taillandier, A., Serre, J. L. & Mornet, E. (2005) Characterization of 11 novel mutations in the tissue non-specific alkaline phosphatase gene responsible for hypophosphatasia and genotype-phenotype correlations. Mol Genet Metab 84, 273277.
  • Camera, G. & Mastroiacovo, P. (1982) Birth prevalence of skeletal dysplasias in the Italian Multicentric Monitoring System for Birth Defects. Prog Clin Biol Res 104, 441449.
  • Collmann, H., Mornet, E., Gattenlohner, S., Beck, C. & Girschick, H. (2009) Neurosurgical aspects of childhood hypophosphatasia. Childs Nerv Syst 25, 217223.
  • Eastman, J. R. & Bixler, D. (1983) Clinical, laboratory, and genetic investigations of hypophosphatasia: support for autosomal dominant inheritance with homozygous lethality. J Craniofac Genet Dev Biol 3, 213234.
  • Eberle, F., Hartenfels, S., Pralle, H. & Kabish, A. (1984) Adult hypophosphatasia without apparent skeletal disease: “ondotohypophosphatasia” in four heterozygote members of a family. Klin Wochenschr 62, 371376.
  • Fauvert, D., Brun-Heath, I., Lia-Baldini, A. S., Bellazi, L., Taillandier, A., Serre, J. L., De Mazancourt, P. & Mornet, E. (2009) Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate alleles. BMC Med Genet 10, 51, doi:10.1186/1471-2350-10-51.
  • Ferrer-Costa, C., Gelpi, J. L., Zamakola, L., Parraga, I., De La Cruz, X. & Orozco, M. (2005) PMUT: a web-based tool for the annotation of pathological mutations on proteins. Bioinformatics 21, 31763178.
  • Fraser, D. (1957) Hypophosphatasia. Am J Med 22, 730746.
  • Fukushi, M., Amizuka, N., Hoshi, K., Ozawa, H., Kumagai, H., Omura, S., Misumi, Y., Ikehara, Y. & Oda, K. (1998) Intracellular retention and degradation of tissue-nonspecific alkaline phosphatase with a Gly317–>Asp substitution associated with lethal hypophosphatasia. Biochem Biophys Res Commun 246, 613618.
  • Greenberg, C. R., Evans, J. A., Mckendry-Smith, S., Redekopp, S., Haworth, J. C., Mulivor, R. & Chodirker, B. N. (1990) Infantile hypophosphatasia: localization within chromosome region 1p36.1–34 and prenatal diagnosis using linked DNA markers. Am J Hum Genet 46, 286292.
  • Greenberg, C. R., Taylor, C. L., Haworth, J. C., Seargeant, L. E., Philipps, S., Triggs-Raine, B. & Chodirker, B. N. (1993) A homoallelic Gly317–>Asp mutation in ALPL causes the perinatal (lethal) form of hypophosphatasia in Canadian mennonites. Genomics 17, 215217.
  • Hu, J. C., Plaetke, R., Mornet, E., Zhang, C., Sun, X., Thomas, H. F. & Simmer, J. P. (2000) Characterization of a family with dominant hypophosphatasia. Eur J Oral Sci 108, 189194.
  • Ishida, Y., Komaru, K., Ito, M., Amaya, Y., Kohno, S. & Oda, K. (2003) Tissue-nonspecific alkaline phosphatase with an Asp(289)–>Val mutation fails to reach the cell surface and undergoes proteasome-mediated degradation. J Biochem (Tokyo) 134, 6370.
  • Lia-Baldini, A. S., Brun-Heath, I., Carrion, C., Simon-Bouy, B., Serre, J. L., Nunes, M. E. & Mornet, E. (2008) A new mechanism of dominance in hypophosphatasia: the mutated protein can disturb the cell localization of the wild-type protein. Hum Genet 123, 429432.
  • Lia-Baldini, A. S., Muller, F., Taillandier, A., Gibrat, J. F., Mouchard, M., Robin, B., Simon-Bouy, B., Serre, J. L., Aylsworth, A. S., Bieth, E., Delanote, S., Freisinger, P., Hu, J. C., Krohn, H. P., Nunes, M. E. & Mornet, E. (2001) A molecular approach to dominance in hypophosphatasia. Hum Genet 109, 99108.
  • Machtei, E. E., Ben-Yehouda, A., Zubery, Y. & Sela, B. A. (1994) Lack of evidence for hypophosphatasia as a factor in the pathogenesis of early-onset periodontitis. J West Soc Periodontol Periodontal Abstr 42, 113117.
  • Michigami, T., Uchihashi, T., Suzuki, A., Tachikawa, K., Nakajima, S. & Ozono, K. (2005) Common mutations F310L and T1559del in the tissue-nonspecific alkaline phosphatase gene are related to distinct phenotypes in Japanese patients with hypophosphatasia. Eur J Pediatr 164, 277282.
  • Moore, C. A., Curry, C. J., Henthorn, P. S., Smith, J. A., Smith, J. C., O’lague, P., Coburn, S. P., Weaver, D. D. & Whyte, M. P. (1999) Mild autosomal dominant hypophosphatasia: in utero presentation in two families. Am J Med Genet 86, 410415.
  • Mornet, E. (2007) Hypophosphatasia. Orphanet J Rare Dis 2, 40.
  • Mornet, E. (2008) Hypophosphatasia. Best Pract Res Clin Rheumatol 22, 113127.
  • Mornet, E. (2010) The Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database. http://www.sesep.uvsq.fr/03_hypo_mu1tations.php. June 2010 .
  • Mornet, E., Beck, C., Bloch-Zupan, A., Girschick, H. & Le Merrer, M. (2010) Clinical utility gene card for: hypophosphatasia. Eur J Hum Genet, doi:10.1038/ejhg.2010.170.
  • Moulin, P., Vaysse, F., Bieth, E., Mornet, E., Gennero, I., Dalicieux-Laurencin, S., Baunin, C., Tauber, M. T., De Gauzy, J. S. & Salles, J. P. (2009) Hypophosphatasia may lead to bone fragility: don't miss it. Eur J Pediatr 168, 783788.
  • Muller, H. L., Yamazaki, M., Michigami, T., Kageyama, T., Schonau, E., Schneider, P. & Ozono, K. (2000) Asp361Val Mutant of alkaline phosphatase found in patients with dominantly inherited hypophosphatasia inhibits the activity of the wild-type enzyme. J Clin Endocrinol Metab 85, 743747.
  • Ng, P. C. & Henikoff, S. (2003) SIFT: Predicting amino acid changes that affect protein function. Nucleic Acids Res 31, 38123814.
  • Orimo, H., Girschick, H. J., Goseki-Sone, M., Ito, M., Oda, K. & Shimada, T. (2001) Mutational analysis and functional correlation with phenotype in German patients with childhood-type hypophosphatasia. J Bone Miner Res 16, 23132319.
  • Orton, N. C., Innes, A. M., Chudley, A. E. & Bech-Hansen, N. T. (2008) Unique disease heritage of the Dutch-German Mennonite population. Am J Med Genet A 146A, 10721087.
  • Plagmann, H. C., Kocher, T., Kuhrau, N. & Caliebe, A. (1994) Periodontal manifestation of hypophosphatasia. A family case report. J Clin Periodontol 21, 710716.
  • Ramensky, V., Bork, P. & Sunyaev, S. (2002) Human non-synonymous SNPs: server and survey. Nucleic Acids Res 30, 38943900.
  • Reibel, A., Maniere, M. C., Clauss, F., Droz, D., Alembik, Y., Mornet, E. & Bloch-Zupan, A. (2009) Orodental phenotype and genotype findings in all subtypes of hypophosphatasia. Orphanet J Rare Dis 4, 6, doi:10.1186/1750-1172-4-6.
  • Reich, E. & Hiller, K. A. (1993) Reasons for tooth extraction in the western states of Germany. Community Dent Oral Epidemiol 21, 379383.
  • Sardon, J. P. (2006) Evolution démographique récente des pays développés. Population-F 61, 225300.
  • Sogabe, N., Oda, K., Nakamura, H., Orimo, H., Watanabe, H., Hosoi, T. & Goseki-Sone, M. (2008) Molecular effects of the tissue-nonspecific alkaline phosphatase gene polymorphism (787T > C) associated with bone mineral density. Biomed Res 29, 213219.
  • Stoll, C., Dott, B., Roth, M. P. & Alembik, Y. (1989) Birth prevalence rates of skeletal dysplasias. Clin Genet 35, 8892.
  • Taillard, F., Desbois, J. C., Delepine, N., Gretillat, F., Allaneau, C., Herrault, A. (1984) L’hypophosphatasie: affection polymorphe de fréquence peut-être sous-estimée. La Médecine Infantile, 559564.
  • Valenza, G., Burgemeister, S., Girschick, H., Schoen, C., Veihelmann, S., Moter, A., Haban, V., Vogel, U. & Schlagenhauf, U. (2006) Analysis of the periodontal microbiota in childhood-type hypophosphatasia. Int J Med Microbiol 296, 493500.
  • Watanabe, A., Karasugi, T., Sawai, H., Naing, B. T., Ikegawa, S., Orimo, H. & Shimada, T. (2010) Prevalence of c.1559delT in ALPL, a common mutation resulting in the perinatal (lethal) form of hypophosphatasia in Japanese and effects of the mutation on heterozygous carriers. J Hum Genet, doi:10.1038/jhg.2010.161.
  • Watanabe, H., Goseki-Sone, M., Iimura, T., Oida, S., Orimo, H. & Ishikawa, I. (1999) Molecular diagnosis of hypophosphatasia with severe periodontitis. J Periodontol 70, 688691.
  • Watanabe, H., Goseki-Sone, M., Orimo, H., Hamatani, R., Takinami, H. & Ishikawa, I. (2002) Function of mutant (G1144A) tissue-nonspecific ALP gene from hypophosphatasia. J Bone Miner Res 17, 19451948.
  • Watanabe, H., Takinami, H., Goseki-Sone, M., Orimo, H., Hamatani, R. & Ishikawa, I. (2005) Characterization of the mutant (A115V) tissue-nonspecific alkaline phosphatase gene from adult-type hypophosphatasia. Biochem Biophys Res Commun 327, 124129.
  • Watanabe, H., Umeda, M., Seki, T. & Ishikawa, I. (1993) Clinical and laboratory studies of severe periodontal disease in an adolescent associated with hypophosphatasia. A case report. J Periodontol 64, 174180.
  • Whyte, M. P. (1994) Hypophosphatasia and the role of alkaline phosphatase in skeletal mineralization. Endocr Rev 15, 439461.
  • Whyte, M. P., Essmyer, K., Geimer, M. & Mumm, S. (2006) Homozygosity for TNSALP mutation 1348c>T (Arg433Cys) causes infantile hypophosphatasia manifesting transient disease correction and variably lethal outcome in a kindred of black ancestry. J Pediatr 148, 753758.
  • Whyte, M. P., Teitelbaum, S. L., Murphy, W. A., Bergfeld, M. A. & Avioli, L. V. (1979) Adult hypophosphatasia. Clinical, laboratory, and genetic investigation of a large kindred with review of the literature. Medicine (Baltimore) 58, 329347.
  • Whyte, M. P., Vrabel, L. A. & Schwartz, T. D. (1982) Adult hypophosphatasia: generalized deficiency of alkaline phosphatase activity demonstrated with cultured skin fibroblasts. Trans Assoc Am Physicians 95, 253263.
  • Zurutuza, L., Muller, F., Gibrat, J. F., Taillandier, A., Simon-Bouy, B., Serre, J. L. & Mornet, E. (1999) Correlations of genotype and phenotype in hypophosphatasia. Hum Mol Genet 8, 10391046.