메뉴 건너뛰기




Volumn 113, Issue 7, 2012, Pages 2432-2441

A novel Phex mutation in a new mouse model of hypophosphatemic rickets

Author keywords

bone; endopeptidase; mineralization; N Ethyl N nitrosourea mutagenesis

Indexed keywords

ADENINE; ALKALINE PHOSPHATASE; CALCIUM; ETHYLNITROSOUREA; GENOMIC DNA; MATRIX EXTRACELLULAR PHOSPHOGLYCOPROTEIN; MESSENGER RNA; OSTEOCALCIN; PHOSPHATE REGULATING NEUTRAL ENDOPEPTIDASE; PHOSPHORUS; SCLEROSTIN; SIALOPROTEIN; THYMINE;

EID: 84861027682     PISSN: 07302312     EISSN: 10974644     Source Type: Journal    
DOI: 10.1002/jcb.24115     Document Type: Article
Times cited : (14)

References (48)
  • 1
    • 0035874943 scopus 로고    scopus 로고
    • MEPE, the gene encoding a tumor-secreted protein in oncogenic hypophosphatemic osteomalacia, is expressed in bone
    • Argiro L, Desbarats M, Glorieux FH, Ecarot B,. 2001. MEPE, the gene encoding a tumor-secreted protein in oncogenic hypophosphatemic osteomalacia, is expressed in bone. Genomics 74: 342-351.
    • (2001) Genomics , vol.74 , pp. 342-351
    • Argiro, L.1    Desbarats, M.2    Glorieux, F.H.3    Ecarot, B.4
  • 2
    • 79954637641 scopus 로고    scopus 로고
    • Sclerostin is a locally acting regulator of late-osteoblast/pre-osteocyte differentiation and regulates mineralization through a MEPE-ASARM dependent mechanism
    • Atkins GJ, Rowe PS, Lim HP, Welldon KJ, Ormsby R, Wijenayaka AR, Zelenchuk L, Evdokiou A, Findlay DM,. 2011. Sclerostin is a locally acting regulator of late-osteoblast/pre-osteocyte differentiation and regulates mineralization through a MEPE-ASARM dependent mechanism. J Bone Miner Res 26: 1425-1436.
    • (2011) J Bone Miner Res , vol.26 , pp. 1425-1436
    • Atkins, G.J.1    Rowe, P.S.2    Lim, H.P.3    Welldon, K.J.4    Ormsby, R.5    Wijenayaka, A.R.6    Zelenchuk, L.7    Evdokiou, A.8    Findlay, D.M.9
  • 3
    • 12244263475 scopus 로고    scopus 로고
    • Partial rescue of the Hyp phenotype by osteoblast-targeted PHEX (phosphate-regulating gene with homologies to endopeptidases on the X chromosome) expression
    • Bai XY, Miao DS, Panda D, Grady S, McKee MD, Goltzman D, Karaplis AC,. 2002. Partial rescue of the Hyp phenotype by osteoblast-targeted PHEX (phosphate-regulating gene with homologies to endopeptidases on the X chromosome) expression. Mol Endocrinol 16: 2913-2925.
    • (2002) Mol Endocrinol , vol.16 , pp. 2913-2925
    • Bai, X.Y.1    Miao, D.S.2    Panda, D.3    Grady, S.4    McKee, M.D.5    Goltzman, D.6    Karaplis, A.C.7
  • 4
    • 0013118819 scopus 로고    scopus 로고
    • The autosomal dominant hypophosphatemic rickets R176Q mutation in fibroblast growth factor 23 resists proteolytic cleavage and enhances in vivo biological potency
    • Bai X-Y, Miao D, Goltzman D, Karaplis AC,. 2003. The autosomal dominant hypophosphatemic rickets R176Q mutation in fibroblast growth factor 23 resists proteolytic cleavage and enhances in vivo biological potency. J Biol Chem 278: 9843-9849.
    • (2003) J Biol Chem , vol.278 , pp. 9843-9849
    • Bai, X.-Y.1    Miao, D.2    Goltzman, D.3    Karaplis, A.C.4
  • 5
    • 9244240970 scopus 로고    scopus 로고
    • Transgenic mice overexpressing human fibroblast growth factor 23 (R176Q) delineate a putative role for parathyroid hormone in renal phosphate wasting disorders
    • Bai X, Miao D, Li J, Goltzman D, Karaplis AC,. 2004. Transgenic mice overexpressing human fibroblast growth factor 23 (R176Q) delineate a putative role for parathyroid hormone in renal phosphate wasting disorders. Endocrinology 145: 5269-5279.
    • (2004) Endocrinology , vol.145 , pp. 5269-5279
    • Bai, X.1    Miao, D.2    Li, J.3    Goltzman, D.4    Karaplis, A.C.5
  • 6
    • 0030445837 scopus 로고    scopus 로고
    • Osteocalcin abnormalities in Hyp mice reflect altered genetic expression and are not due to altered clearance, affinity for mineral, or ambient phosphorus levels
    • Carpenter TO, Gundberg CM,. 1996. Osteocalcin abnormalities in Hyp mice reflect altered genetic expression and are not due to altered clearance, affinity for mineral, or ambient phosphorus levels. Endocrinology 137: 5213-5219.
    • (1996) Endocrinology , vol.137 , pp. 5213-5219
    • Carpenter, T.O.1    Gundberg, C.M.2
  • 10
    • 0033996157 scopus 로고    scopus 로고
    • PHEX gene and hypophosphatemia
    • Drezner MK,. 2000. PHEX gene and hypophosphatemia. Kidney Int 57: 9-18.
    • (2000) Kidney Int , vol.57 , pp. 9-18
    • Drezner, M.K.1
  • 11
    • 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, Desbarats M, Viel J, Glorieux FH, Cawthorn C, Ecarot B,. 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
  • 15
    • 0026603529 scopus 로고
    • Development and validation of a radioimmunoassay for mouse osteocalcinâ€"Paradoxical response in the Hyp mouse
    • Gundberg CM, Clough ME, Carpenter TO,. 1992. Development and validation of a radioimmunoassay for mouse osteocalcinâ€"Paradoxical response in the Hyp mouse. Endocrinology 130: 1909-1915.
    • (1992) Endocrinology , vol.130 , pp. 1909-1915
    • Gundberg, C.M.1    Clough, M.E.2    Carpenter, T.O.3
  • 16
    • 0030964935 scopus 로고    scopus 로고
    • Mutational analysis of the PEX gene in patients with X-linked hypophosphatemic rickets
    • Holm IA, Huang X, Kunkel LM,. 1997. Mutational analysis of the PEX gene in patients with X-linked hypophosphatemic rickets. Am J Hum Genet 60: 790-797.
    • (1997) Am J Hum Genet , vol.60 , pp. 790-797
    • Holm, I.A.1    Huang, X.2    Kunkel, L.M.3
  • 19
    • 84856196884 scopus 로고    scopus 로고
    • A Phex mutation in a murine model of X-linked hypophosphatemia alters phosphate responsiveness of bone cells
    • Ichikawa S, Austin AM, Gray AK, Econs MJ,. 2012. A Phex mutation in a murine model of X-linked hypophosphatemia alters phosphate responsiveness of bone cells. J Bone Miner Res 27: 453-460.
    • (2012) J Bone Miner Res , vol.27 , pp. 453-460
    • Ichikawa, S.1    Austin, A.M.2    Gray, A.K.3    Econs, M.J.4
  • 20
    • 0036479315 scopus 로고    scopus 로고
    • Overexpression of Phex in osteoblasts fails to rescue the Hyp mouse phenotype
    • Liu S, Guo R, Tu Q, Quarles LD,. 2002. Overexpression of Phex in osteoblasts fails to rescue the Hyp mouse phenotype. J Biol Chem 277: 3686-3697.
    • (2002) J Biol Chem , vol.277 , pp. 3686-3697
    • Liu, S.1    Guo, R.2    Tu, Q.3    Quarles, L.D.4
  • 22
    • 34250675360 scopus 로고    scopus 로고
    • Emerging role of fibroblast growth factor 23 in a bone-kidney axis regulating systemic phosphate homeostasis and extracellular matrix mineralization
    • Liu SG, Gupta A, Quarles LD,. 2007. Emerging role of fibroblast growth factor 23 in a bone-kidney axis regulating systemic phosphate homeostasis and extracellular matrix mineralization. Curr Opin Nephrol Hypertens 16: 329-335.
    • (2007) Curr Opin Nephrol Hypertens , vol.16 , pp. 329-335
    • Liu, S.G.1    Gupta, A.2    Quarles, L.D.3
  • 23
    • 0013634314 scopus 로고
    • Abnormalities of vitamin D metabolism and action in the vitamin D resistant rachitic and osteomalacic diseases
    • Kumar R. editor. Boston: Martinus Nijhoff.
    • Lobaugh B, Burch WJ, Drezner M,. 1984. Abnormalities of vitamin D metabolism and action in the vitamin D resistant rachitic and osteomalacic diseases. In:, Kumar R, editor. Vitamin D: Basic and clinical aspects. Boston: Martinus Nijhoff. pp 665-720.
    • (1984) Vitamin D: Basic and Clinical Aspects , pp. 665-720
    • Lobaugh, B.1    Burch, W.J.2    Drezner, M.3
  • 25
    • 80051687775 scopus 로고    scopus 로고
    • Bone proteins PHEX and DMP1 regulate fibroblastic growth factor Fgf23 expression in osteocytes through a common pathway involving FGF receptor (FGFR) signaling
    • Martin A, Liu S, David V, Li H, Karydis A, Feng JQ, Quarles LD,. 2011. Bone proteins PHEX and DMP1 regulate fibroblastic growth factor Fgf23 expression in osteocytes through a common pathway involving FGF receptor (FGFR) signaling. FASEB J 25: 2551-2562.
    • (2011) FASEB J , vol.25 , pp. 2551-2562
    • Martin, A.1    Liu, S.2    David, V.3    Li, H.4    Karydis, A.5    Feng, J.Q.6    Quarles, L.D.7
  • 26
    • 0035107364 scopus 로고    scopus 로고
    • Osteomalacia in Hyp mice is associated with abnormal Phex expression and with altered bone matrix protein expression and deposition
    • Miao D, Bai X, Panda D, McKee MD, Karaplis AC, Goltzman D,. 2001. Osteomalacia in Hyp mice is associated with abnormal Phex expression and with altered bone matrix protein expression and deposition. Endocrinology 142: 926-939.
    • (2001) Endocrinology , vol.142 , pp. 926-939
    • Miao, D.1    Bai, X.2    Panda, D.3    McKee, M.D.4    Karaplis, A.C.5    Goltzman, D.6
  • 27
    • 80051794812 scopus 로고    scopus 로고
    • Kbus/Idr, a mutant mouse strain with skeletal abnormalities and hypophosphatemia: Identification as an allele of 'Hyp'
    • Moriyama K, Hanai A, Mekada K, Yoshiki A, Ogiwara K, Kimura A, Takahashi T,. 2011. Kbus/Idr, a mutant mouse strain with skeletal abnormalities and hypophosphatemia: Identification as an allele of 'Hyp'. J Biomed Sci 18: 60.
    • (2011) J Biomed Sci , vol.18 , pp. 60
    • Moriyama, K.1    Hanai, A.2    Mekada, K.3    Yoshiki, A.4    Ogiwara, K.5    Kimura, A.6    Takahashi, T.7
  • 28
    • 0000136613 scopus 로고
    • Mendelian hypophosphatemias
    • Scriver C. Beaudet A. Sly W. Valle D. editors. New York: McGraw Hill.
    • Rasmussen H, Tenenhouse H,. 1995. Mendelian hypophosphatemias. In:, Scriver C, Beaudet A, Sly W, Valle D, editors. The metabolic and molecular basis of inherited disease. New York: McGraw Hill. pp 3717-3745.
    • (1995) The Metabolic and Molecular Basis of Inherited Disease , pp. 3717-3745
    • Rasmussen, H.1    Tenenhouse, H.2
  • 33
    • 0033939658 scopus 로고    scopus 로고
    • PHEXdb, a locus-specific database for mutations causing X-linked hypophosphatemia
    • Sabbagh Y, Jones AO, Tenenhouse HS,. 2000. PHEXdb, a locus-specific database for mutations causing X-linked hypophosphatemia. Hum Mutat 16: 1-6.
    • (2000) Hum Mutat , vol.16 , pp. 1-6
    • Sabbagh, Y.1    Jones, A.O.2    Tenenhouse, H.S.3
  • 34
    • 0345393147 scopus 로고    scopus 로고
    • The X chromosome deletion in Hyp mice extends into the intergenic region but does not include the Sat gene downstream from Phex
    • Sabbagh Y, Gauthier C, Tenenhouse HS,. 2002. The X chromosome deletion in Hyp mice extends into the intergenic region but does not include the Sat gene downstream from Phex. Cytogenet Genome Res 99: 344-349.
    • (2002) Cytogenet Genome Res , vol.99 , pp. 344-349
    • Sabbagh, Y.1    Gauthier, C.2    Tenenhouse, H.S.3
  • 39
    • 0032893855 scopus 로고    scopus 로고
    • X-linked hypophosphataemia: A homologous disorder in humans and mice
    • Tenenhouse HS,. 1999. X-linked hypophosphataemia: A homologous disorder in humans and mice. Nephrol Dial Transplant 14: 333-341.
    • (1999) Nephrol Dial Transplant , vol.14 , pp. 333-341
    • Tenenhouse, H.S.1
  • 41
    • 0030899822 scopus 로고    scopus 로고
    • Mammalian membrane metallopeptidases: NEP, ECE, KELL, and PEX
    • Turner AJ, Tanzawa K,. 1997. Mammalian membrane metallopeptidases: NEP, ECE, KELL, and PEX. FASEB J 11: 355-364.
    • (1997) FASEB J , vol.11 , pp. 355-364
    • Turner, A.J.1    Tanzawa, K.2
  • 42
    • 44449118964 scopus 로고    scopus 로고
    • Overexpression of fibroblast growth factor 23 suppresses osteoblast differentiation and matrix mineralization in vitro
    • Wang H, Yoshiko Y, Yamamoto R, Minamizaki T, Kozai K, Tanne K, Aubin JE, Maeda N,. 2008. Overexpression of fibroblast growth factor 23 suppresses osteoblast differentiation and matrix mineralization in vitro. J Bone Miner Res 23: 939-948.
    • (2008) J Bone Miner Res , vol.23 , pp. 939-948
    • Wang, H.1    Yoshiko, Y.2    Yamamoto, R.3    Minamizaki, T.4    Kozai, K.5    Tanne, K.6    Aubin, J.E.7    Maeda, N.8
  • 45
    • 36749085222 scopus 로고    scopus 로고
    • A novel Phex mutation with defective glycosylation causes hypophosphatemia and rickets in mice
    • Xiong XW, Qi X, Ge XM, Gu PY, Zhao J, Zhao QS, Gao X,. 2008. A novel Phex mutation with defective glycosylation causes hypophosphatemia and rickets in mice. J Biomed Sci 15: 47-59.
    • (2008) J Biomed Sci , vol.15 , pp. 47-59
    • Xiong, X.W.1    Qi, X.2    Ge, X.M.3    Gu, P.Y.4    Zhao, J.5    Zhao, Q.S.6    Gao, X.7
  • 46
    • 0026627725 scopus 로고
    • Abnormal response of osteoblasts from Hyp mice to 1,25-dihydroxyvitamin D3
    • Yamamoto T, Ecarot B, Glorieux FH,. 1992. Abnormal response of osteoblasts from Hyp mice to 1,25-dihydroxyvitamin D3. Bone 13: 209-215.
    • (1992) Bone , vol.13 , pp. 209-215
    • Yamamoto, T.1    Ecarot, B.2    Glorieux, F.H.3
  • 48
    • 27644482283 scopus 로고    scopus 로고
    • Comprehensive algorithm for quantitative real-time polymerase chain reaction
    • Zhao S, Fernald RD,. 2005. Comprehensive algorithm for quantitative real-time polymerase chain reaction. J Comput Biol 12: 1047-1064.
    • (2005) J Comput Biol , vol.12 , pp. 1047-1064
    • Zhao, S.1    Fernald, R.D.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.