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Volumn 36, Issue SUPPL. 1, 2007, Pages 29-33

Achondroplasia and enchondromatosis: Report of three boys

Author keywords

Achondroplasia; Enchondromatosis; FGFR3; IHH; Metaphyseal dysplasia; SOX9

Indexed keywords

FIBROBLAST GROWTH FACTOR; FIBROBLAST GROWTH FACTOR RECEPTOR 3; GROWTH HORMONE;

EID: 34248560929     PISSN: 03642348     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00256-006-0161-x     Document Type: Article
Times cited : (5)

References (18)
  • 1
    • 0027964261 scopus 로고
    • Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia
    • Shiang R, Thompson LM, Zhu YZ et al. Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia. Cell 1994;78:335-342
    • (1994) Cell , vol.78 , pp. 335-342
    • Shiang, R.1    Thompson, L.M.2    Zhu, Y.Z.3
  • 2
    • 0028093135 scopus 로고
    • Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia
    • Rousseau F, Bonaventure J, Legeai-Mallet L et al. Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia. Nature 1994;371:252-254
    • (1994) Nature , vol.371 , pp. 252-254
    • Rousseau, F.1    Bonaventure, J.2    Legeai-Mallet, L.3
  • 3
    • 0028890851 scopus 로고
    • Achondroplasia is defined by recurrent G380R mutations of FGFR3
    • Bellus GA, Hefferon TW, Ortiz de Luna RI et al. Achondroplasia is defined by recurrent G380R mutations of FGFR3. Am J Hum Genet 1995;56:368-373
    • (1995) Am J Hum Genet , vol.56 , pp. 368-373
    • Bellus, G.A.1    Hefferon, T.W.2    Ortiz de Luna, R.I.3
  • 4
    • 0029935895 scopus 로고    scopus 로고
    • Graded activation of fibroblast growth factor receptor 3 by mutations causing achondroplasia and thanatophoric dysplasia
    • Naski MC, Wang Q, Xu J, Ornitz DM. Graded activation of fibroblast growth factor receptor 3 by mutations causing achondroplasia and thanatophoric dysplasia. Nat Genet 1996;13:233-237
    • (1996) Nat Genet , vol.13 , pp. 233-237
    • Naski, M.C.1    Wang, Q.2    Xu, J.3    Ornitz, D.M.4
  • 5
  • 6
    • 0012435706 scopus 로고    scopus 로고
    • A study on the height of children with achondroplasia based on a nationwide survey
    • (In Japanese)
    • Tachibana K, Suwa S, Nishiyama S, Matsuda I. A study on the height of children with achondroplasia based on a nationwide survey. J Pediatr Prac 1997;60:1363-1369 (In Japanese)
    • (1997) J Pediatr Prac , vol.60 , pp. 1363-1369
    • Tachibana, K.1    Suwa, S.2    Nishiyama, S.3    Matsuda, I.4
  • 7
    • 34248540863 scopus 로고    scopus 로고
    • Enchondromatosis, Ollier type
    • In: Spranger JW, Brill PW, Poznanski A, eds. 2nd edition. Oxford University Press, Oxford
    • Enchondromatosis, Ollier type. In: Spranger JW, Brill PW, Poznanski A, eds. Bone dysplasias: An atlas of genetic disorders of skeletal development, 2nd edition. Oxford University Press, Oxford; 2002;554-569
    • (2002) Bone Dysplasias: An Atlas of Genetic Disorders of Skeletal Development , pp. 554-569
  • 8
    • 34248536003 scopus 로고    scopus 로고
    • Achondroplasa
    • In: Cassidy SB, Allanson JE, eds. 2nd edition. John Wiley & Sons Inc, Hoboken
    • Pauli RM. Achondroplasa. In: Cassidy SB, Allanson JE, eds. Management of genetic syndrome, 2nd edition. John Wiley & Sons Inc, Hoboken; 2005;13-29
    • (2005) Management of Genetic Syndrome , pp. 13-29
    • Pauli, R.M.1
  • 9
    • 34248511741 scopus 로고
    • Ollier's disease
    • In: Wynne-Davies R, Hall CM, Apley AG, eds. Churchill Livingstone, Edinburgh
    • Ollier's disease. In: Wynne-Davies R, Hall CM, Apley AG, eds. Atlas of skeletal dysplasias. Churchill Livingstone, Edinburgh; 1985;533-536
    • (1985) Atlas of Skeletal Dysplasias , pp. 533-536
  • 10
    • 0030896404 scopus 로고    scopus 로고
    • Activation of Stat1 by mutant fibroblast growth-factor receptor in thanatophoric dysplasia type II dwarfism
    • Su WC, Kitagawa M, Xue N et al. Activation of Stat1 by mutant fibroblast growth-factor receptor in thanatophoric dysplasia type II dwarfism. Nature 1997;386:288-292
    • (1997) Nature , vol.386 , pp. 288-292
    • Su, W.C.1    Kitagawa, M.2    Xue, N.3
  • 11
    • 0028943780 scopus 로고
    • A constitutively active mutant PTH-PTHrP receptor in Jansen-type metaphyseal chondrodysplasia
    • Schipani E, Kruse K, Juppner H. A constitutively active mutant PTH-PTHrP receptor in Jansen-type metaphyseal chondrodysplasia. Science 1995;268:98-100
    • (1995) Science , vol.268 , pp. 98-100
    • Schipani, E.1    Kruse, K.2    Juppner, H.3
  • 12
    • 0036509934 scopus 로고    scopus 로고
    • A mutant PTH/PTHrP type I receptor in enchondromatosis
    • Hopyan S, Gokgoz N, Poon R et al. A mutant PTH/PTHrP type I receptor in enchondromatosis. Nature Genet 2002;30:306-310
    • (2002) Nature Genet , vol.30 , pp. 306-310
    • Hopyan, S.1    Gokgoz, N.2    Poon, R.3
  • 13
    • 0032413011 scopus 로고    scopus 로고
    • Repression of hedgehog signaling and BMP4 expression in growth plate cartilage by fibroblast growth factor receptor 3
    • Naski MC, Colvin JS, Coffin JD, Ornitz DM. Repression of hedgehog signaling and BMP4 expression in growth plate cartilage by fibroblast growth factor receptor 3. Development 1998;125:4977-4988
    • (1998) Development , vol.125 , pp. 4977-4988
    • Naski, M.C.1    Colvin, J.S.2    Coffin, J.D.3    Ornitz, D.M.4
  • 14
    • 0033567213 scopus 로고    scopus 로고
    • Indian hedgehog signaling regulates proliferation and differentiation of chondrocytes and is essential for bone formation
    • St-Jacques B, Hammerschmidt M, McMahon AP. Indian hedgehog signaling regulates proliferation and differentiation of chondrocytes and is essential for bone formation. Genes Dev 1999;13:2072-2086
    • (1999) Genes Dev , vol.13 , pp. 2072-2086
    • St-Jacques, B.1    Hammerschmidt, M.2    McMahon, A.P.3
  • 15
    • 0033974686 scopus 로고    scopus 로고
    • Up-regulation of the chondrogenic Sox9 gene by fibroblast growth factors is mediated by the mitogen-activated protein kinase pathway
    • Murakami S, Kan M, McKeehan WL, de Crombrugghe B. Up-regulation of the chondrogenic Sox9 gene by fibroblast growth factors is mediated by the mitogen-activated protein kinase pathway. Proc Natl Acad Sci USA 2000;97:1113-1118
    • (2000) Proc Natl Acad Sci USA , vol.97 , pp. 1113-1118
    • Murakami, S.1    Kan, M.2    McKeehan, W.L.3    de Crombrugghe, B.4
  • 16
    • 0028135336 scopus 로고
    • Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene
    • Foster JW, Dominguez-Steglich MA, Guioli S et al. Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene. Nature 1994;372:525-530
    • (1994) Nature , vol.372 , pp. 525-530
    • Foster, J.W.1    Dominguez-Steglich, M.A.2    Guioli, S.3
  • 17
    • 0035810951 scopus 로고    scopus 로고
    • Haploinsufficiency of Sox9 results in defective cartilage primordia and premature skeletal mineralization
    • Bi W, Huang W, Whitworth DJ et al. Haploinsufficiency of Sox9 results in defective cartilage primordia and premature skeletal mineralization. Proc Natl Acad Sci USA 2001;98:6698-6703
    • (2001) Proc Natl Acad Sci USA , vol.98 , pp. 6698-6703
    • Bi, W.1    Huang, W.2    Whitworth, D.J.3
  • 18
    • 34248555877 scopus 로고    scopus 로고
    • The skeletal dysplasias
    • In: Morrissy RT, Weinstein SL, eds. 6th edition. Lippincott Williams and Wilkins, Philadelphia
    • Sponseller PD, Ain AC. The skeletal dysplasias. In: Morrissy RT, Weinstein SL, eds. Lovell and Winter's Pediatric Orthopaedics, 6th edition. Lippincott Williams and Wilkins, Philadelphia; 2006;205-250
    • (2006) Lovell and Winter's Pediatric Orthopaedics , pp. 205-250
    • Sponseller, P.D.1    Ain, A.C.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.