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Volumn 99, Issue 6, 1997, Pages 1200-1209

Pex/PEX tissue distribution and evidence for a deletion in the 3' region of the Pex gene in X-linked hypophosphatemic mice

Author keywords

bone; endopeptidase; kidney; phosphate; transport

Indexed keywords

METALLOPROTEINASE; PHOSPHATE; POLYADENYLATED RNA; PROTEIN PEX; RIBONUCLEASE; UNCLASSIFIED DRUG;

EID: 0030938927     PISSN: 00219738     EISSN: None     Source Type: Journal    
DOI: 10.1172/JCI119276     Document Type: Article
Times cited : (266)

References (40)
  • 1
    • 0003436550 scopus 로고
    • Johns Hopkins University Press, Baltimore
    • McKusick, V.A. 1992. Mendelian Inheritance in Man. Johns Hopkins University Press, Baltimore. 1871-1873.
    • (1992) Mendelian Inheritance in Man , pp. 1871-1873
    • McKusick, V.A.1
  • 2
    • 0000136613 scopus 로고
    • Mendelian hypophosphatemias
    • C.R. Scriver, A.L. Beaudet, W.S. Sly, and D. Valle, editors. McGraw Hill Book Co., New York
    • Rasmussen, H., and H. S. Tenenhouse. 1995. Mendelian hypophosphatemias. In The Metabolic and Molecular Basis of Inherited Disease. C.R. Scriver, A.L. Beaudet, W.S. Sly, and D. Valle, editors. McGraw Hill Book Co., New York. 3717-3745.
    • (1995) The Metabolic and Molecular Basis of Inherited Disease , pp. 3717-3745
    • Rasmussen, H.1    Tenenhouse, H.S.2
  • 3
    • 0017032590 scopus 로고
    • Hypophosphatemia: Mouse model for human familial hypophosphatemic (vitamin D-resistant) rickets
    • Eicher, E.M., J.L. Southard, C.R. Scriver, and F.H. Glorieux. 1976. Hypophosphatemia: mouse model for human familial hypophosphatemic (vitamin D-resistant) rickets. Proc. Natl. Acad. Sci. USA. 73:4667-4671.
    • (1976) Proc. Natl. Acad. Sci. USA , vol.73 , pp. 4667-4671
    • Eicher, E.M.1    Southard, J.L.2    Scriver, C.R.3    Glorieux, F.H.4
  • 4
    • 0026579514 scopus 로고
    • X-linked hypophosphatemia. A phenotype in search of a cause
    • Tenenhouse, H.S., and C.R. Scriver. 1992. X-linked hypophosphatemia. A phenotype in search of a cause. Int. J. Biochem. 24:685-691.
    • (1992) Int. J. Biochem. , vol.24 , pp. 685-691
    • Tenenhouse, H.S.1    Scriver, C.R.2
  • 5
    • 0027283517 scopus 로고
    • Renal adaptation to phosphate deprivation: Lessons from the X-linked Hyp mouse
    • Tenenhouse, H.S., and J. Martel. 1993. Renal adaptation to phosphate deprivation: lessons from the X-linked Hyp mouse. Ped. Nephrol. 7:312-318.
    • (1993) Ped. Nephrol. , vol.7 , pp. 312-318
    • Tenenhouse, H.S.1    Martel, J.2
  • 6
    • 0025202286 scopus 로고
    • Conserved loci on the X chromosome confer phosphate homeostasis in mice and humans
    • Scriver, C.R., and H.S. Tenenhouse. 1990. Conserved loci on the X chromosome confer phosphate homeostasis in mice and humans. Genet. Res. (Camb.). 56:141-152.
    • (1990) Genet. Res. (Camb.) , vol.56 , pp. 141-152
    • Scriver, C.R.1    Tenenhouse, H.S.2
  • 7
    • 0024464759 scopus 로고
    • Effect of phosphonoformic acid, dietary phosphate and the Hyp mutation on kinetically distinct phosphate transport processes in mouse kidney
    • Tenenhouse, H.S., A.H. Klugerman, and J.L. Neal. 1989. Effect of phosphonoformic acid, dietary phosphate and the Hyp mutation on kinetically distinct phosphate transport processes in mouse kidney. Biochim. Biophys. Acta. 984:207-213.
    • (1989) Biochim. Biophys. Acta. , vol.984 , pp. 207-213
    • Tenenhouse, H.S.1    Klugerman, A.H.2    Neal, J.L.3
  • 10
    • 0025348984 scopus 로고
    • Abnormal regulation of renal vitamin D catabolism by dietary phosphate in murine X-linked hypophosphatemic rickets
    • Tenenhouse, H.S., and G. Jones. 1990. Abnormal regulation of renal vitamin D catabolism by dietary phosphate in murine X-linked hypophosphatemic rickets. J. Clin. Invest. 85:1450-1455.
    • (1990) J. Clin. Invest. , vol.85 , pp. 1450-1455
    • Tenenhouse, H.S.1    Jones, G.2
  • 13
    • 0028153919 scopus 로고
    • Localization of a renal sodium phosphate cotransporter gene to human chromosome 5q35
    • Kos, C.H., F. Tihy, M.J. Econs, H. Murer, N. Lemieux, and H.S. Tenenhouse. 1994. Localization of a renal sodium phosphate cotransporter gene to human chromosome 5q35. Genomics. 19:176-177.
    • (1994) Genomics , vol.19 , pp. 176-177
    • Kos, C.H.1    Tihy, F.2    Econs, M.J.3    Murer, H.4    Lemieux, N.5    Tenenhouse, H.S.6
  • 15
    • 0029160578 scopus 로고
    • A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets
    • The HYP Consortium. 1995. A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets. Nature Genetics. 11:130-136.
    • (1995) Nature Genetics , vol.11 , pp. 130-136
  • 16
    • 85036449118 scopus 로고    scopus 로고
    • Eleven novel mutations in the PEX gene indicate molecular heterogeneity for X-linked hypophosphataemic rickets
    • Abstr.
    • Dixon, P.H., C. Wooding, D. Trump, D. Schlessinger, M.P. Whyte, and R.V. Thakker. 1996. Eleven novel mutations in the PEX gene indicate molecular heterogeneity for X-linked hypophosphataemic rickets. Am. J. Hum. Genet. 59:256a. (Abstr.)
    • (1996) Am. J. Hum. Genet. , vol.59
    • Dixon, P.H.1    Wooding, C.2    Trump, D.3    Schlessinger, D.4    Whyte, M.P.5    Thakker, R.V.6
  • 18
    • 25944472848 scopus 로고    scopus 로고
    • Mutations in the PEX gene in X-linked hypophosphatemic rickets
    • Abstr.
    • Holm, L.A., X. Huang, N.M. Zacconi, and L.M. Kunkel. 1996. Mutations in the PEX gene in X-linked hypophosphatemic rickets. Am. J. Hum. Genet. 59:43na (Abstr.)
    • (1996) Am. J. Hum. Genet. , vol.59
    • Holm, L.A.1    Huang, X.2    Zacconi, N.M.3    Kunkel, L.M.4
  • 19
    • 0027475050 scopus 로고
    • Neutral endopeptidase 24.11: Structure, inhibition, and experimental and clinical pharmacology
    • Roques, B.P., F. Noble, V. Daugé, M. Fournié-Zaluski, and A. Beaumont. 1993. Neutral endopeptidase 24.11: structure, inhibition, and experimental and clinical pharmacology. Pharmacol. Rev. 45:87-146.
    • (1993) Pharmacol. Rev. , vol.45 , pp. 87-146
    • Roques, B.P.1    Noble, F.2    Daugé, V.3    Fournié-Zaluski, M.4    Beaumont, A.5
  • 20
    • 0027992642 scopus 로고
    • ECE-1: A membrane-bound metalloprotease that catalyzes the proteolytic activation of big endothelin-1
    • Xu, D., N. Emoto, A. Giaid, C. Slaughter, S. Kaw, D. deWit, and M. Yanagisawa. 1994. ECE-1: A membrane-bound metalloprotease that catalyzes the proteolytic activation of big endothelin-1. Cell. 78:473-485.
    • (1994) Cell , vol.78 , pp. 473-485
    • Xu, D.1    Emoto, N.2    Giaid, A.3    Slaughter, C.4    Kaw, S.5    DeWit, D.6    Yanagisawa, M.7
  • 21
    • 0030586965 scopus 로고    scopus 로고
    • cDNA cloning of the murine Pex gene implicated in X-linked hypophosphatemia and evidence for expression in bone
    • Du, L., M. Desbarats, J. Viel, F.H. Glorieux, C. Cawthorn, and B. Ecarot. 1996. cDNA cloning of the murine Pex gene implicated in X-linked hypophosphatemia and evidence for expression in bone. Genomics. 36:22-28.
    • (1996) Genomics , vol.36 , pp. 22-28
    • Du, L.1    Desbarats, M.2    Viel, J.3    Glorieux, F.H.4    Cawthorn, C.5    Ecarot, B.6
  • 22
    • 0021220593 scopus 로고
    • Human fetal extremity lengths in the interval from 9 to 21 menstrual weeks of pregnancy
    • Munsick, R.A. 1984. Human fetal extremity lengths in the interval from 9 to 21 menstrual weeks of pregnancy. Am. J. Obstet. Gynecol. 149:883-887.
    • (1984) Am. J. Obstet. Gynecol. , vol.149 , pp. 883-887
    • Munsick, R.A.1
  • 23
    • 0001797113 scopus 로고
    • Ribonuclease protection assay
    • A.U. Ausubel, R. Brent, R.E. Kingston, D.D. Moore, J.G. Seidman, J.A. Smith, and K. Struhl, editors. John Wiley and Sons, New York
    • Gilman, M. 1993. Ribonuclease protection assay. In Current Protocols in Molecular Biology. A.U. Ausubel, R. Brent, R.E. Kingston, D.D. Moore, J.G. Seidman, J.A. Smith, and K. Struhl, editors. John Wiley and Sons, New York. Vol 1, unit 4.7, 1-8.
    • (1993) Current Protocols in Molecular Biology , vol.1 , pp. 47
    • Gilman, M.1
  • 26
    • 0026513193 scopus 로고
    • Defective bone formation by Hyp mouse bone cells transplanted into normal mice: Evidence in favor of an intrinsic osteoblast defect
    • Ecarot, B., F.H. Glorieux, M. Desbarats, R. Travers, and L. Labelle. 1992. Defective bone formation by Hyp mouse bone cells transplanted into normal mice: evidence in favor of an intrinsic osteoblast defect. J. Bone Miner. Res. 7:215-220.
    • (1992) J. Bone Miner. Res. , vol.7 , pp. 215-220
    • Ecarot, B.1    Glorieux, F.H.2    Desbarats, M.3    Travers, R.4    Labelle, L.5
  • 27
    • 0026736322 scopus 로고
    • Effect of dietary phosphate deprivation and supplementation of recipient mice on bone formation by transplanted cells from normal and X-linked hypophosphatemic mice
    • Ecarot, B., F.H. Glorieux, M. Desbarats, R. Travers, and L. Labelle. 1992. Effect of dietary phosphate deprivation and supplementation of recipient mice on bone formation by transplanted cells from normal and X-linked hypophosphatemic mice. J. Bone Miner. Res. 7:523-530.
    • (1992) J. Bone Miner. Res. , vol.7 , pp. 523-530
    • Ecarot, B.1    Glorieux, F.H.2    Desbarats, M.3    Travers, R.4    Labelle, L.5
  • 29
    • 0029035481 scopus 로고
    • Altered osteoblast gluconeogenesis in X-linked hypophosphatemic mice is associated with a depressed intracellular pH
    • Rifas, L., A. Gupta, K.A. Hruska, and L.V. Avioli. 1995. Altered osteoblast gluconeogenesis in X-linked hypophosphatemic mice is associated with a depressed intracellular pH . Calcif. Tissue Int. 57:60-63.
    • (1995) Calcif. Tissue Int. , vol.57 , pp. 60-63
    • Rifas, L.1    Gupta, A.2    Hruska, K.A.3    Avioli, L.V.4
  • 30
    • 0024310077 scopus 로고
    • The renal phosphate transport defect in normal mice parabiosed to X-linked hypophosphatemic mice persists after parathyroidectomy
    • Meyer, R.A., Jr., H.S. Tenenhouse, M.H. Meyer, and A.H. Klugerman. 1989. The renal phosphate transport defect in normal mice parabiosed to X-linked hypophosphatemic mice persists after parathyroidectomy. J. Bone Miner. Res. 4:523-532.
    • (1989) J. Bone Miner. Res. , vol.4 , pp. 523-532
    • Meyer Jr., R.A.1    Tenenhouse, H.S.2    Meyer, M.H.3    Klugerman, A.H.4
  • 31
    • 0026691973 scopus 로고
    • Cross-transplantation of kidneys in normal and Hyp mice: Evidence that the Hyp phenotype is unrelated to an intrinsic renal defect
    • Nesbitt, T., T.M. Coffman, R. Griffiths, and M.K. Drezner. 1992. Cross-transplantation of kidneys in normal and Hyp mice: evidence that the Hyp phenotype is unrelated to an intrinsic renal defect. J. Clin. Invest. 89:1453-1459.
    • (1992) J. Clin. Invest. , vol.89 , pp. 1453-1459
    • Nesbitt, T.1    Coffman, T.M.2    Griffiths, R.3    Drezner, M.K.4
  • 32
    • 23444447617 scopus 로고
    • Brief report: Inhibition of renal phosphate transport by a tumor product in a patient with oncogenic osteomalacia
    • Cai, Q., S.F. Hodgson, P.C. Kao, V.A. Lennon, G.G. Klee, A.R. Zinsmiester, and R. Kumar. 1994. Brief report: inhibition of renal phosphate transport by a tumor product in a patient with oncogenic osteomalacia. N. Engl. J. Med. 330:1645-1649.
    • (1994) N. Engl. J. Med. , vol.330 , pp. 1645-1649
    • Cai, Q.1    Hodgson, S.F.2    Kao, P.C.3    Lennon, V.A.4    Klee, G.G.5    Zinsmiester, A.R.6    Kumar, R.7
  • 33
    • 0028363099 scopus 로고
    • Tumor-induced osteomalacia: Unveiling a new hormone
    • Econs, M.J., and M.K. Drezner. 1994. Tumor-induced osteomalacia: unveiling a new hormone. N. Engl. J. Med. 330:1679-1681.
    • (1994) N. Engl. J. Med. , vol.330 , pp. 1679-1681
    • Econs, M.J.1    Drezner, M.K.2
  • 35
    • 0004187426 scopus 로고
    • Organization of the gene encoding common acute lymphoblastic leukemia antigen (neutral endopeptidase 24.11): Multiple miniexons and separate 5′ untranslated regions
    • D'Adamio, L., M.A. Shipp, E.L. Masteller, and E.L. Reinherz. 1989. Organization of the gene encoding common acute lymphoblastic leukemia antigen (neutral endopeptidase 24.11): multiple miniexons and separate 5′ untranslated regions. Proc. Natl. Acad. Sci. USA. 86:7103-7107.
    • (1989) Proc. Natl. Acad. Sci. USA , vol.86 , pp. 7103-7107
    • D'Adamio, L.1    Shipp, M.A.2    Masteller, E.L.3    Reinherz, E.L.4
  • 36
    • 0028222873 scopus 로고
    • Construction of a novel database containing aberrant splicing mutations of mammalian genes
    • Nakai, K., and H. Samamoto. 1994. Construction of a novel database containing aberrant splicing mutations of mammalian genes. Gene. 141:171-177.
    • (1994) Gene. , vol.141 , pp. 171-177
    • Nakai, K.1    Samamoto, H.2
  • 37
    • 0027360277 scopus 로고
    • Defective splicing of mRNA from one COL1A1 allele of type 1 collagen in nondeforming (type 1) osteogenesis imperfecta
    • Stover, M.L., D. Primorac, S.C. Liu, M.B. McKinstry, and D.W. Rowe. 1993. Defective splicing of mRNA from one COL1A1 allele of type 1 collagen in nondeforming (type 1) osteogenesis imperfecta. J. Clin. Invest. 92:1994-2002.
    • (1993) J. Clin. Invest. , vol.92 , pp. 1994-2002
    • Stover, M.L.1    Primorac, D.2    Liu, S.C.3    McKinstry, M.B.4    Rowe, D.W.5
  • 40
    • 0028180540 scopus 로고
    • Novel types of mutation identified at the hprt locus of human T-lymphocytes
    • Hou, S. 1994. Novel types of mutation identified at the hprt locus of human T-lymphocytes. Mut. Res. 308:23-31.
    • (1994) Mut. Res. , vol.308 , pp. 23-31
    • Hou, S.1


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