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Volumn 90, Issue 2, 2005, Pages 1233-1240

Neonatal lethal osteochondrodysplasia with low serum levels of alkaline phosphatase and osteocalcin

Author keywords

[No Author keywords available]

Indexed keywords

ALKALINE PHOSPHATASE; OSTEOCALCIN; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR OSTERIX; TRANSCRIPTION FACTOR RUNX2; UNCLASSIFIED DRUG;

EID: 14044268243     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.2004-0251     Document Type: Conference Paper
Times cited : (16)

References (55)
  • 3
    • 0024616653 scopus 로고
    • Birth prevalence rates of skeletal dysplasias
    • Stoll C, Dott B, Roth MP, Alembik Y 1989 Birth prevalence rates of skeletal dysplasias. Clin Genet 35:88-92
    • (1989) Clin Genet , vol.35 , pp. 88-92
    • Stoll, C.1    Dott, B.2    Roth, M.P.3    Alembik, Y.4
  • 5
    • 0003436550 scopus 로고    scopus 로고
    • Baltimore, MD: McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University, and Bethesda, MD: National Center for Biotechnology Information, National Library of Medicine
    • McKusick VA 2000 Online Mendelian inheritance in man, OMIM. Baltimore, MD: McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University, and Bethesda, MD: National Center for Biotechnology Information, National Library of Medicine
    • (2000) Online Mendelian Inheritance in Man, OMIM
    • McKusick, V.A.1
  • 7
    • 0032931210 scopus 로고    scopus 로고
    • Prior knowledge of obstetric gestational age and possible bias of Ballard score
    • Smith LN, Dayal VH, Monga M 1999 Prior knowledge of obstetric gestational age and possible bias of Ballard score. Obstet Gynecol 93:712-714
    • (1999) Obstet Gynecol , vol.93 , pp. 712-714
    • Smith, L.N.1    Dayal, V.H.2    Monga, M.3
  • 10
    • 0021811803 scopus 로고
    • Markedly increased circulating pyridoxal-5′-phosphate levels in hypophosphatasia. Alkaline phosphatase acts in vitamin B6 metabolism
    • Whyte MP, Mahuren JD, Vrabel LA, Coburn SP 1985 Markedly increased circulating pyridoxal-5′-phosphate levels in hypophosphatasia. Alkaline phosphatase acts in vitamin B6 metabolism. J Clin Invest 76:752-756
    • (1985) J Clin Invest , vol.76 , pp. 752-756
    • Whyte, M.P.1    Mahuren, J.D.2    Vrabel, L.A.3    Coburn, S.P.4
  • 11
    • 0036353341 scopus 로고    scopus 로고
    • Denaturing gradient gel electrophoresis analysis of the tissue non-specific alkaline phosphatase isoenzyme gene in hypophosphatasia
    • Mumm S, Jones J, Finnegan P, Henthorn P, Podgornik MN, Whyte MP 2002 Denaturing gradient gel electrophoresis analysis of the tissue non-specific alkaline phosphatase isoenzyme gene in hypophosphatasia. Mol Genet Metab 75:143-153
    • (2002) Mol Genet Metab , vol.75 , pp. 143-153
    • Mumm, S.1    Jones, J.2    Finnegan, P.3    Henthorn, P.4    Podgornik, M.N.5    Whyte, M.P.6
  • 14
    • 0032479379 scopus 로고    scopus 로고
    • Genomic structure and isoform expression of the mouse, rat and human Cbfa1/Osf2 transcription factor
    • Xiao ZS, Thomas R, Hinson TK, Quarles LD 1998 Genomic structure and isoform expression of the mouse, rat and human Cbfa1/Osf2 transcription factor. Gene 214:187-197
    • (1998) Gene , vol.214 , pp. 187-197
    • Xiao, Z.S.1    Thomas, R.2    Hinson, T.K.3    Quarles, L.D.4
  • 15
    • 0142029486 scopus 로고    scopus 로고
    • Transcriptional regulation of the human Runx2/Cbfa1 gene promoter by bone morphogenetic protein-7
    • Tou L, Quibria N, Alexander JM 2003 Transcriptional regulation of the human Runx2/Cbfa1 gene promoter by bone morphogenetic protein-7. Mol Cell Endocrinol 205:121-129
    • (2003) Mol Cell Endocrinol , vol.205 , pp. 121-129
    • Tou, L.1    Quibria, N.2    Alexander, J.M.3
  • 17
    • 0026713191 scopus 로고
    • Different missense mutations at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively inherited forms of mild and severe hypophosphatasia
    • Henthorn PS, Raducha M, Fedde KN, Lafferty MA, Whyte MP 1992 Different missense mutations at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively inherited forms of mild and severe hypophosphatasia. Proc Natl Acad Sci USA 89:9924-9928
    • (1992) Proc Natl Acad Sci USA , vol.89 , pp. 9924-9928
    • Henthorn, P.S.1    Raducha, M.2    Fedde, K.N.3    Lafferty, M.A.4    Whyte, M.P.5
  • 18
    • 0000791302 scopus 로고    scopus 로고
    • Hypophosphatasia: Nature's window on alkaline phosphatase function in man
    • Bilezikian JP, Raisz LG, Rodan GA, eds. San Diego: Academic Press
    • Whyte MP 2002 Hypophosphatasia: nature's window on alkaline phosphatase function in man. In: Bilezikian JP, Raisz LG, Rodan GA, eds. Principles of bone biology. 2nd ed. San Diego: Academic Press; 1229-1248
    • (2002) Principles of Bone Biology. 2nd Ed. , pp. 1229-1248
    • Whyte, M.P.1
  • 19
    • 0027930471 scopus 로고
    • Hypophosphatasia and the role of alkaline phosphatase in skeletal mineralization
    • Whyte MP 1994 Hypophosphatasia and the role of alkaline phosphatase in skeletal mineralization. Endocr Rev 15:439-461
    • (1994) Endocr Rev , vol.15 , pp. 439-461
    • Whyte, M.P.1
  • 23
    • 0025856050 scopus 로고
    • Hypophosphatasia and the extracellular metabolism of inorganic pyrophosphate: Clinical and laboratory aspects
    • Caswell AM, Whyte MP, Russell RG 1991 Hypophosphatasia and the extracellular metabolism of inorganic pyrophosphate: clinical and laboratory aspects. Crit Rev Clin Lab Sci 28:175-232
    • (1991) Crit Rev Clin Lab Sci , vol.28 , pp. 175-232
    • Caswell, A.M.1    Whyte, M.P.2    Russell, R.G.3
  • 24
    • 0026053143 scopus 로고
    • Perinatal lethal hypophosphatasia: Clinical, radiologic and morphologic findings
    • Shohat M, Rimoin DL, Gruber HE, Lachman RS 1991 Perinatal lethal hypophosphatasia: clinical, radiologic and morphologic findings. Pediatr Radiol 21:421-427
    • (1991) Pediatr Radiol , vol.21 , pp. 421-427
    • Shohat, M.1    Rimoin, D.L.2    Gruber, H.E.3    Lachman, R.S.4
  • 26
    • 7344231904 scopus 로고
    • "Spur-limbed" dwarfism identified as hypophosphatasia
    • Whyte MP 1988 "Spur-limbed" dwarfism identified as hypophosphatasia. Dysmorphol Clin Genet 2:126-127
    • (1988) Dysmorphol Clin Genet , vol.2 , pp. 126-127
    • Whyte, M.P.1
  • 27
    • 0033615462 scopus 로고    scopus 로고
    • Mild hypophosphatasia mimicking severe osteogenesis imperfecta in utero: Bent but not broken
    • Pauli RM, Modaff P, Sipes SL, Whyte MP 1999 Mild hypophosphatasia mimicking severe osteogenesis imperfecta in utero: bent but not broken. Am J Med Genet 86:434-438
    • (1999) Am J Med Genet , vol.86 , pp. 434-438
    • Pauli, R.M.1    Modaff, P.2    Sipes, S.L.3    Whyte, M.P.4
  • 28
    • 0033048965 scopus 로고    scopus 로고
    • Cleidocranial dysplasia: Clinical and molecular genetics
    • Mundlos S 1999 Cleidocranial dysplasia: clinical and molecular genetics. J Med Genet 36:177-182
    • (1999) J Med Genet , vol.36 , pp. 177-182
    • Mundlos, S.1
  • 29
  • 31
    • 14044257979 scopus 로고
    • Respiratory failure in cleidocranial dysplasia - A rare finding in a known disorder
    • Abstract
    • Bull MJ, Weaver DD, Bender H, White R 1992 Respiratory failure in cleidocranial dysplasia - a rare finding in a known disorder. Proc Greenwood Genetic Center 11:107-108 (Abstract)
    • (1992) Proc Greenwood Genetic Center , vol.11 , pp. 107-108
    • Bull, M.J.1    Weaver, D.D.2    Bender, H.3    White, R.4
  • 33
    • 0036460419 scopus 로고    scopus 로고
    • Cleidocranial dysplasia with decreased bone density and biochemical findings of hypophosphatasia
    • Morava E, Karteszi J, Weisenbach J, Caliebe A, Mundlos S, Mehes K 2002 Cleidocranial dysplasia with decreased bone density and biochemical findings of hypophosphatasia. Eur J Pediatr 161:619-622
    • (2002) Eur J Pediatr , vol.161 , pp. 619-622
    • Morava, E.1    Karteszi, J.2    Weisenbach, J.3    Caliebe, A.4    Mundlos, S.5    Mehes, K.6
  • 34
    • 0023690329 scopus 로고
    • Lethal osteogenesis imperfecta: Abnormal collagen metabolism and biochemical characteristics of hypophosphatasia
    • Royce PM, Blumberg A, Zurbrugg RP, Zimmermann A, Colombo JP, Steinmann B 1988 Lethal osteogenesis imperfecta: abnormal collagen metabolism and biochemical characteristics of hypophosphatasia. Eur J Pediatr 147:626-631
    • (1988) Eur J Pediatr , vol.147 , pp. 626-631
    • Royce, P.M.1    Blumberg, A.2    Zurbrugg, R.P.3    Zimmermann, A.4    Colombo, J.P.5    Steinmann, B.6
  • 35
    • 0032106912 scopus 로고    scopus 로고
    • Cleidocranial dysplasia with neonatal death due to central nervous system injury in utero: Case report and literature review
    • Oyer CE, Tatevosyants NG, Cortez SC, Hornstein A, Wallach M 1998 Cleidocranial dysplasia with neonatal death due to central nervous system injury in utero: case report and literature review. Pediatr Dev Pathol 1:314-318
    • (1998) Pediatr Dev Pathol , vol.1 , pp. 314-318
    • Oyer, C.E.1    Tatevosyants, N.G.2    Cortez, S.C.3    Hornstein, A.4    Wallach, M.5
  • 36
    • 0026601491 scopus 로고
    • Intrafamilial variability in cleidocranial dysplasia: A three generation family
    • Chitayat D, Hodgkinson, Azouz EM 1992 Intrafamilial variability in cleidocranial dysplasia: a three generation family. Am J Med Genet 42:298-303
    • (1992) Am J Med Genet , vol.42 , pp. 298-303
    • Chitayat, D.1    Hodgkinson2    Azouz, E.M.3
  • 39
    • 0029653567 scopus 로고
    • Genetic mapping of the cleidocranial dysplasia (CCD) locus on chromosome band 6p21 to include a microdeletion
    • Gelb BD, Cooper E, Shevell M, Desnick RJ 1995 Genetic mapping of the cleidocranial dysplasia (CCD) locus on chromosome band 6p21 to include a microdeletion. Am J Med Genet 58:200-205
    • (1995) Am J Med Genet , vol.58 , pp. 200-205
    • Gelb, B.D.1    Cooper, E.2    Shevell, M.3    Desnick, R.J.4
  • 41
    • 0030927622 scopus 로고    scopus 로고
    • Missense mutations abolishing DNA binding of the osteoblasr-specific transcription factor OSF2/CBFA1 in cleidocranial dysplasia
    • Lee B, Thirunavukkarasu K, Zhou L, Pastore L, Baldini A, Hecht J, Geoffroy V, Ducy P, Karsenty G 1997 Missense mutations abolishing DNA binding of the osteoblasr-specific transcription factor OSF2/CBFA1 in cleidocranial dysplasia. Nat Genet 16:307-310
    • (1997) Nat Genet , vol.16 , pp. 307-310
    • Lee, B.1    Thirunavukkarasu, K.2    Zhou, L.3    Pastore, L.4    Baldini, A.5    Hecht, J.6    Geoffroy, V.7    Ducy, P.8    Karsenty, G.9
  • 43
    • 0030951349 scopus 로고    scopus 로고
    • Sibs with cleidocranial dysplasia born to normal parents: Germ line mosaicism?
    • Zackai EH, Robin NH, McDonald-McGinn DM 1997 Sibs with cleidocranial dysplasia born to normal parents: germ line mosaicism? Am J Med Genet 69:348-351
    • (1997) Am J Med Genet , vol.69 , pp. 348-351
    • Zackai, E.H.1    Robin, N.H.2    McDonald-McGinn, D.M.3
  • 46
    • 0032450721 scopus 로고    scopus 로고
    • Biology, physiology, and clinical chemistry of osteocalcin
    • Gundberg C 1998 Biology, physiology, and clinical chemistry of osteocalcin. J Clin Ligand Assay 21:128-138
    • (1998) J Clin Ligand Assay , vol.21 , pp. 128-138
    • Gundberg, C.1
  • 48
    • 0025184825 scopus 로고
    • Alkaline phosphatase (tissue-nonspecific isoenzyme) is a phosphoethanolamine and pyridoxal-5′-phosphate ectophosphatase: Normal and hypophosphatasia fibroblast study
    • Fedde KN, Whyte MP 1990 Alkaline phosphatase (tissue-nonspecific isoenzyme) is a phosphoethanolamine and pyridoxal-5′-phosphate ectophosphatase: normal and hypophosphatasia fibroblast study. Am J Hum Genet 47:767-775
    • (1990) Am J Hum Genet , vol.47 , pp. 767-775
    • Fedde, K.N.1    Whyte, M.P.2
  • 49
    • 0037059614 scopus 로고    scopus 로고
    • The novel zinc finger-containing transcription factor osterix is required for osteoblast differentiation and bone formation
    • Nakashima K, Zhou X, Kunkel G, Zhang Z, Deng JM, Behringer RR, de Crombrugghe B 2002 The novel zinc finger-containing transcription factor osterix is required for osteoblast differentiation and bone formation. Cell 108:17-29
    • (2002) Cell , vol.108 , pp. 17-29
    • Nakashima, K.1    Zhou, X.2    Kunkel, G.3    Zhang, Z.4    Deng, J.M.5    Behringer, R.R.6    De Crombrugghe, B.7
  • 50
    • 0033662188 scopus 로고    scopus 로고
    • Cbfa1: A molecular switch in osteoblast biology
    • Ducy P 2000 Cbfa1: a molecular switch in osteoblast biology. Dev Dyn 219:461-471
    • (2000) Dev Dyn , vol.219 , pp. 461-471
    • Ducy, P.1
  • 51
    • 0019510277 scopus 로고
    • New syndrome in three affected siblings
    • Crane JP, Heise RL 1981 New syndrome in three affected siblings. Pediatrics 68:235-237
    • (1981) Pediatrics , vol.68 , pp. 235-237
    • Crane, J.P.1    Heise, R.L.2
  • 52
    • 0031971180 scopus 로고    scopus 로고
    • Defective intracellular transport of tissue-nonspecific alkaline phosphatase with an Ala162→Thr mutation associated with lethal hypophosphatasia
    • Shibata H, Fukushi M, Igarashi A, Misumi Y, Ikehara Y, Ohashi Y, Oda K 1998 Defective intracellular transport of tissue-nonspecific alkaline phosphatase with an Ala162→Thr mutation associated with lethal hypophosphatasia. J Biochem (Tokyo) 123:968-977
    • (1998) J Biochem (Tokyo) , vol.123 , pp. 968-977
    • Shibata, H.1    Fukushi, M.2    Igarashi, A.3    Misumi, Y.4    Ikehara, Y.5    Ohashi, Y.6    Oda, K.7
  • 53
    • 0025874465 scopus 로고
    • Serum osteocalcin levels before and after 1,25 dihydroxy-vitamin D stimulation in a family with hypophosphatasia
    • Macfarlane JD, Frolich M, Papapoulos SE 1991 Serum osteocalcin levels before and after 1,25 dihydroxy-vitamin D stimulation in a family with hypophosphatasia. Bone 12:261-263
    • (1991) Bone , vol.12 , pp. 261-263
    • Macfarlane, J.D.1    Frolich, M.2    Papapoulos, S.E.3
  • 54
    • 0033892896 scopus 로고    scopus 로고
    • Infantile hypophosphatasia: Disappointing results of treatment
    • Deeb AA, Bruce SN, Morris AA, Cheetham TD 2000 Infantile hypophosphatasia: disappointing results of treatment. Acta Paediatr 89:730-733
    • (2000) Acta Paediatr , vol.89 , pp. 730-733
    • Deeb, A.A.1    Bruce, S.N.2    Morris, A.A.3    Cheetham, T.D.4
  • 55


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.