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Volumn 91, Issue 10, 2006, Pages 4037-4042

The role of mutant UDP-N-acetyl-α-D-galactosamine-polypeptide N-acetylgalactosaminyltransferase 3 in regulating serum intact fibroblast growth factor 23 and matrix extracellular phosphoglycoprotein in heritable tumoral calcinosis

Author keywords

[No Author keywords available]

Indexed keywords

ACETAZOLAMIDE; CARBONATE DEHYDRATASE INHIBITOR; FIBROBLAST GROWTH FACTOR 23; N ACETYL D GALACTOSAMINE POLYPEPTIDE N ACETYLGALACTOSAMINYTRANSFERASE 3; SEVELAMER; UNCLASSIFIED DRUG;

EID: 33749576547     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2006-0305     Document Type: Article
Times cited : (99)

References (24)
  • 2
    • 0030035111 scopus 로고    scopus 로고
    • cDNA cloning and expression of a novel human UDP-N-acetyl-alpha-d- galactosamine. Polypeptide N-acetylgalactosaminyltransferase, GalNAc-T3
    • Bennett EP, Hassan H, Clausen H 1996 cDNA cloning and expression of a novel human UDP-N-acetyl-alpha-d-galactosamine. Polypeptide N- acetylgalactosaminyltransferase, GalNAc-T3. J Biol Chem 271:17006-17012
    • (1996) J Biol Chem , vol.271 , pp. 17006-17012
    • Bennett, E.P.1    Hassan, H.2    Clausen, H.3
  • 5
    • 13544270218 scopus 로고    scopus 로고
    • An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia
    • Benet-Pages A, Orlik P, Strom TM, Lorenz-Depiereux B 2005 An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia. Hum Mol Genet 14:385-390
    • (2005) Hum Mol Genet , vol.14 , pp. 385-390
    • Benet-Pages, A.1    Orlik, P.2    Strom, T.M.3    Lorenz-Depiereux, B.4
  • 7
    • 0033763097 scopus 로고    scopus 로고
    • Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23
    • ADHR Consortium
    • ADHR Consortium 2000 Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23. Nat Genet 26:345-348
    • (2000) Nat Genet , vol.26 , pp. 345-348
  • 8
    • 0031035615 scopus 로고    scopus 로고
    • Autosomal dominant hypophosphatemic rickets/osteomalacia: Clinical characterization of a novel renal phosphate-wasting disorder
    • Econs MJ, McEnery PT 1997 Autosomal dominant hypophosphatemic rickets/osteomalacia: clinical characterization of a novel renal phosphate-wasting disorder. J Clin Endocrinol Metab 82:674-681
    • (1997) J Clin Endocrinol Metab , vol.82 , pp. 674-681
    • Econs, M.J.1    McEnery, P.T.2
  • 11
    • 11244270453 scopus 로고    scopus 로고
    • Serum MEPE-ASARM-peptides are elevated in X-linked rickets (HYP): Implications for phosphaturia and rickets
    • Bresler D, Bruder J, Mohnike K, Fraser WD, Rowe PS 2004 Serum MEPE-ASARM-peptides are elevated in X-linked rickets (HYP): implications for phosphaturia and rickets. J Endocrinol 183:R1-R9
    • (2004) J Endocrinol , vol.183
    • Bresler, D.1    Bruder, J.2    Mohnike, K.3    Fraser, W.D.4    Rowe, P.S.5
  • 16
    • 4043120646 scopus 로고    scopus 로고
    • Serum levels of matrix extracellular phosphoglycoprotein (MEPE) in normal humans correlate with serum phosphorus, parathyroid hormone and bone mineral density
    • Jain A, Fedarko NS, Collins MT, Gelman R, Ankrom MA, Tayback M, Fisher LW 2004 Serum levels of matrix extracellular phosphoglycoprotein (MEPE) in normal humans correlate with serum phosphorus, parathyroid hormone and bone mineral density. J Clin Endocrinol Metab 89:4158-4161
    • (2004) J Clin Endocrinol Metab , vol.89 , pp. 4158-4161
    • Jain, A.1    Fedarko, N.S.2    Collins, M.T.3    Gelman, R.4    Ankrom, M.A.5    Tayback, M.6    Fisher, L.W.7
  • 17
    • 33744989728 scopus 로고    scopus 로고
    • Hyperphosphatemic familial tumoral calcinosis caused by a mutation in GALNT3 in a European kindred
    • Specktor P, Cooper JG, Indelman M, Sprecher E 2006 Hyperphosphatemic familial tumoral calcinosis caused by a mutation in GALNT3 in a European kindred. J Hum Genet 51:487-490
    • (2006) J Hum Genet , vol.51 , pp. 487-490
    • Specktor, P.1    Cooper, J.G.2    Indelman, M.3    Sprecher, E.4
  • 18
    • 17844397173 scopus 로고    scopus 로고
    • A novel GALNT3 mutation in a pseudoautosomal dominant form of tumoral calcinosis: Evidence that the disorder is autosomal recessive
    • Ichikawa S, Lyles KW, Econs MJ 2005 A novel GALNT3 mutation in a pseudoautosomal dominant form of tumoral calcinosis: evidence that the disorder is autosomal recessive. J Clin Endocrinol Metab 90:2420-2423
    • (2005) J Clin Endocrinol Metab , vol.90 , pp. 2420-2423
    • Ichikawa, S.1    Lyles, K.W.2    Econs, M.J.3
  • 20
    • 18444375871 scopus 로고    scopus 로고
    • Mutant FGF-23 responsible for autosomal dominant hypophosphatemic rickets is resistant to proteolytic cleavage and causes hypophosphatemia in vivo
    • Shimada T, Muto T, Urakawa I, Yoneya T, Yamazaki Y, Okawa K, Takeuchi Y, Fujita T, Fukumoto S, Yamashita T 2002 Mutant FGF-23 responsible for autosomal dominant hypophosphatemic rickets is resistant to proteolytic cleavage and causes hypophosphatemia in vivo. Endocrinology 143:3179-3182
    • (2002) Endocrinology , vol.143 , pp. 3179-3182
    • Shimada, T.1    Muto, T.2    Urakawa, I.3    Yoneya, T.4    Yamazaki, Y.5    Okawa, K.6    Takeuchi, Y.7    Fujita, T.8    Fukumoto, S.9    Yamashita, T.10
  • 21
    • 0027310966 scopus 로고
    • Tumoral calcinosis. Controversies in the etiology and alternatives in the treatment
    • Tezelman S, Siperstein AE, Duh QY, Clark OH 1993 Tumoral calcinosis. Controversies in the etiology and alternatives in the treatment. Arch Surg 128:737-744
    • (1993) Arch Surg , vol.128 , pp. 737-744
    • Tezelman, S.1    Siperstein, A.E.2    Duh, Q.Y.3    Clark, O.H.4
  • 23
    • 0017108377 scopus 로고
    • Effect of parathyroid hormone on phosphate reabsorption in the presence of acetazolamide
    • Knox FG, Haas JA, Lechene CP 1976 Effect of parathyroid hormone on phosphate reabsorption in the presence of acetazolamide. Kidney Int 10:216-220
    • (1976) Kidney Int , vol.10 , pp. 216-220
    • Knox, F.G.1    Haas, J.A.2    Lechene, C.P.3
  • 24
    • 0015429531 scopus 로고
    • Treatment of tumoral calcinosis with phosphorus deprivation
    • Mozaffarian G, Lafferty FW, Pearson OH 1972 Treatment of tumoral calcinosis with phosphorus deprivation. Ann Intern Med 77:741-745
    • (1972) Ann Intern Med , vol.77 , pp. 741-745
    • Mozaffarian, G.1    Lafferty, F.W.2    Pearson, O.H.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.