메뉴 건너뛰기




Volumn 22, Issue 1, 2003, Pages 11-22

Recent progress in the molecular genetics of sclerosing bone dysplasias

Author keywords

Hyperostosis; Osteopetrosis; Sclerosing bone

Indexed keywords

ALBERS SCHOENBERG DISEASE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL RECESSIVE DISORDER; BLOMSTRAND DYSPLASIA; BONE DENSITY; BONE DYSPLASIA; BONE MINERAL; BRAIN CALCIFICATION; CAFFEY DISEASE; CAMURATI ENGELMANN SYNDROME; CHONDRODYSPLASIA; DYSOSTOSIS; ENVIRONMENTAL FACTOR; GENE; GENE MUTATION; GENETIC COUNSELING; GENOMICS; HEREDITY; HUMAN; KIDNEY TUBULE ACIDOSIS; MOLECULAR GENETICS; OSTEOSCLEROSIS; PRIORITY JOURNAL; QUANTITATIVE TRAIT; TCIRG1 GENE;

EID: 0037219858     PISSN: 15227952     EISSN: None     Source Type: Journal    
DOI: 10.1080/15227950307696     Document Type: Article
Times cited : (4)

References (51)
  • 1
    • 0032511762 scopus 로고    scopus 로고
    • International Nomenclature and Classification of the Osteochondrodysplasias 1997
    • International Working Group on Constitutional Disease of Bone. International Nomenclature and Classification of the Osteochondrodysplasias 1997. Am J Med Genet 1998;79:376-382.
    • (1998) Am J Med Genet , vol.79 , pp. 376-382
  • 2
    • 0001690310 scopus 로고
    • Carbonic anhydrase II deficiency identified as the primary defect in the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification
    • Sly WS, Hewett-Emmett D, Whyte MP, Yu YS, Tashian RE. Carbonic anhydrase II deficiency identified as the primary defect in the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification. Proc Natl Acad Sci USA 1983;80:2752-2756.
    • (1983) Proc Natl Acad Sci USA , vol.80 , pp. 2752-2756
    • Sly, W.S.1    Hewett-Emmett, D.2    Whyte, M.P.3    Yu, Y.S.4    Tashian, R.E.5
  • 5
    • 0028135342 scopus 로고
    • Bone marrow transplantation for autosomal recessive osteopetrosis. A report from the Working Party on Inborn Errors of the European Bone Marrow Transplantation Group
    • Gerritsen EJ, Vossen JM, Fasth A, Friedrich W, Morgan G, Padmos A, Vellodi A, Porras O, O'Meara A, Porta F. Bone marrow transplantation for autosomal recessive osteopetrosis. A report from the Working Party on Inborn Errors of the European Bone Marrow Transplantation Group. J Pediatr 1994;1256: 896-902.
    • (1994) J Pediatr , vol.1256 , pp. 896-902
    • Gerritsen, E.J.1    Vossen, J.M.2    Fasth, A.3    Friedrich, W.4    Morgan, G.5    Padmos, A.6    Vellodi, A.7    Porras, O.8    O'Meara, A.9    Porta, F.10
  • 7
    • 0031656797 scopus 로고    scopus 로고
    • Human autosomal recessive osteopetrosis maps to 11q13, a position predicted by comparative mapping of the murine osteosclerosis oc mutation
    • Heaney C, Shalev H, Elbedour K, Carmi R, Staack JB, Sheffield VC, Beier DR. Human autosomal recessive osteopetrosis maps to 11q13, a position predicted by comparative mapping of the murine osteosclerosis oc mutation. Hum Mol Genet 1998;7:1407-1410.
    • (1998) Hum Mol Genet , vol.7 , pp. 1407-1410
    • Heaney, C.1    Shalev, H.2    Elbedour, K.3    Carmi, R.4    Staack, J.B.5    Sheffield, V.C.6    Beier, D.R.7
  • 12
  • 13
    • 0024389809 scopus 로고
    • Autosomal dominant osteopetrosis: Bone metabolism and epidemiological, clinical, and hormonal aspects
    • Bollerslev J. Autosomal dominant osteopetrosis: Bone metabolism and epidemiological, clinical, and hormonal aspects. Endocr Rev 1989;101:45-67.
    • (1989) Endocr Rev , vol.101 , pp. 45-67
    • Bollerslev, J.1
  • 14
    • 0023900049 scopus 로고
    • Radiological, biochemical and hereditary evidence of two types of autosomal dominant osteopetrosis
    • Bollerslev J, Andersen PE Jr. Radiological, biochemical and hereditary evidence of two types of autosomal dominant osteopetrosis. Bone 1988;91:7-13.
    • (1988) Bone , vol.91 , pp. 7-13
    • Bollerslev, J.1    Andersen P.E., Jr.2
  • 15
    • 0001197960 scopus 로고    scopus 로고
    • Autosomal dominant osteopetrosis type I is genetically linked to the same region on human chromosome 11 as the high bone mass phenotype
    • Van Hul E, Mathysen D, Bollerslev J, Gram J, Van Hul W. Autosomal dominant osteopetrosis type I is genetically linked to the same region on human chromosome 11 as the high bone mass phenotype. J Bone Miner Res 2000;15:S260.
    • (2000) J Bone Miner Res , vol.15
    • Van Hul, E.1    Mathysen, D.2    Bollerslev, J.3    Gram, J.4    Van Hul, W.5
  • 19
    • 0033819751 scopus 로고    scopus 로고
    • Further evidence for genetic heterogeneity within type II autosomal dominant osteopetrosis
    • Benichou OD, Benichou B, Copin H, De Vernejoul MC, Van Hul W. Further evidence for genetic heterogeneity within type II autosomal dominant osteopetrosis. J Bone Miner Res 2000;15:1900-1904.
    • (2000) J Bone Miner Res , vol.15 , pp. 1900-1904
    • Benichou, O.D.1    Benichou, B.2    Copin, H.3    De Vernejoul, M.C.4    Van Hul, W.5
  • 20
    • 0034894052 scopus 로고    scopus 로고
    • Mapping of autosomal dominant osteopetrosis type II (Albers-Schonberg disease) to chromosome 16p13.3
    • Benichou O, Cleiren E, Gram J, Bollerslev J, de Vernejoul MC, Van Hul W. Mapping of autosomal dominant osteopetrosis type II (Albers-Schonberg disease) to chromosome 16p13.3. Am J Hum Genet 2001;69:647-654.
    • (2001) Am J Hum Genet , vol.69 , pp. 647-654
    • Benichou, O.1    Cleiren, E.2    Gram, J.3    Bollerslev, J.4    De Vernejoul, M.C.5    Van Hul, W.6
  • 21
    • 73649185887 scopus 로고
    • La pycnodysostose
    • Maroteaux P, Lamy M. La pycnodysostose. Presse Med 1962;70:999-1002.
    • (1962) Presse Med , vol.70 , pp. 999-1002
    • Maroteaux, P.1    Lamy, M.2
  • 22
    • 0029809357 scopus 로고    scopus 로고
    • Pycnodysostosis, a lysosomal disease caused by cathepsin K deficiency
    • Gelb BD, Shi GP, Chapman HA, Desnick RJ. Pycnodysostosis, a lysosomal disease caused by cathepsin K deficiency. Science 1996;273:1236-1238.
    • (1996) Science , vol.273 , pp. 1236-1238
    • Gelb, B.D.1    Shi, G.P.2    Chapman, H.A.3    Desnick, R.J.4
  • 23
    • 0017873829 scopus 로고
    • Osteopathia striata with cranial sclerosis: An autosomal dominant entity
    • Horan FT, Beighton PH. Osteopathia striata with cranial sclerosis: An autosomal dominant entity. Clin Genet 1978;13:201-206.
    • (1978) Clin Genet , vol.13 , pp. 201-206
    • Horan, F.T.1    Beighton, P.H.2
  • 24
    • 0031769675 scopus 로고    scopus 로고
    • Severe malformations in males from families with osteopathia striata with cranial sclerosis
    • Bueno AL, Ramos FF, Bueno O, Olivares JL, Bello ML, Bueno M. Severe malformations in males from families with osteopathia striata with cranial sclerosis. Clin Genet 1998;54:400-405.
    • (1998) Clin Genet , vol.54 , pp. 400-405
    • Bueno, A.L.1    Ramos, F.F.2    Bueno, O.3    Olivares, J.L.4    Bello, M.L.5    Bueno, M.6
  • 25
    • 0034084256 scopus 로고    scopus 로고
    • Osteopathia striata with cranial sclerosis: Literature reappraisal argues for X-linked inheritance
    • Behninger C, Rott HD. Osteopathia striata with cranial sclerosis: Literature reappraisal argues for X-linked inheritance. Genet Couns 2000;11:157-167.
    • (2000) Genet Couns , vol.11 , pp. 157-167
    • Behninger, C.1    Rott, H.D.2
  • 26
    • 0021224901 scopus 로고
    • Progressive diaphyseal dysplasia: Genetics and clinical and radiologic manifestations
    • Naveh Y, Kaftori JK, Alon U, Ben-David J, Berant M. Progressive diaphyseal dysplasia: Genetics and clinical and radiologic manifestations. Pediatrics 1984;743:399-405.
    • (1984) Pediatrics , vol.743 , pp. 399-405
    • Naveh, Y.1    Kaftori, J.K.2    Alon, U.3    Ben-David, J.4    Berant, M.5
  • 31
    • 0015038783 scopus 로고
    • Hyperostosis corticalis generalisata. Eight new cases
    • Van Buchem FS. Hyperostosis corticalis generalisata. Eight new cases. Acta Med Scand 1971;1894:257-267.
    • (1971) Acta Med Scand , vol.1894 , pp. 257-267
    • Van Buchem, F.S.1
  • 32
    • 0013919762 scopus 로고
    • Hyperostosis corticalis generalisata congenita
    • Worth HM, Wollin DG. Hyperostosis corticalis generalisata congenita. J Can Assoc Radiol 1966;172:67-74.
    • (1966) J Can Assoc Radiol , vol.172 , pp. 67-74
    • Worth, H.M.1    Wollin, D.G.2
  • 34
    • 0023970128 scopus 로고
    • Sclerosteosis
    • Beighton P. Sclerosteosis. J Med Genet 1988;253:200-203.
    • (1988) J Med Genet , vol.253 , pp. 200-203
    • Beighton, P.1
  • 40
    • 0031055673 scopus 로고    scopus 로고
    • Kenny-Caffey syndrome in six Bedouin sibships: Autosomal recessive inheritance is confirmed
    • Khan KTS, Uma R, Usha R, Al Ghanem MM, Al Awadi SA, Farag TI. Kenny-Caffey syndrome in six Bedouin sibships: Autosomal recessive inheritance is confirmed. Am J Med Genet 1997;69:126-132.
    • (1997) Am J Med Genet , vol.69 , pp. 126-132
    • Khan, K.T.S.1    Uma, R.2    Usha, R.3    Al Ghanem, M.M.4    Al Awadi, S.A.5    Farag, T.I.6
  • 41
    • 0032533602 scopus 로고    scopus 로고
    • The autosomal recessive Kenny-Caffey syndrome locus maps to chromosome 1q42-q43
    • Diaz GA, Khan KT, Gelb BD. The autosomal recessive Kenny-Caffey syndrome locus maps to chromosome 1q42-q43. Genomics 1998;54:13-18.
    • (1998) Genomics , vol.54 , pp. 13-18
    • Diaz, G.A.1    Khan, K.T.2    Gelb, B.D.3
  • 42
    • 0002459406 scopus 로고
    • Genetic craniotubular bone dysplasias and hyperostoses: A critical analysis
    • Gorlin RJ, Spranger J, Koszalka MF. Genetic craniotubular bone dysplasias and hyperostoses: A critical analysis. Birth Defects Orig Art Ser V 1969;4:79-95.
    • (1969) Birth Defects Orig Art Ser V , vol.4 , pp. 79-95
    • Gorlin, R.J.1    Spranger, J.2    Koszalka, M.F.3
  • 43
    • 0034684730 scopus 로고    scopus 로고
    • Mapping of the autosomal recessive (AR) craniometaphyseal dysplasia locus to chromosome region 6q21-22 and confirmation of genetic heterogeneity for mild AR spondylocostal dysplasia
    • Iughetti P, Alonso LG, Wilcox W, Alonso N, Passos-Bueno MR. Mapping of the autosomal recessive (AR) craniometaphyseal dysplasia locus to chromosome region 6q21-22 and confirmation of genetic heterogeneity for mild AR spondylocostal dysplasia. Am J Med Genet 2000;95:482-491.
    • (2000) Am J Med Genet , vol.95 , pp. 482-491
    • Iughetti, P.1    Alonso, L.G.2    Wilcox, W.3    Alonso, N.4    Passos-Bueno, M.R.5
  • 44
    • 0030774770 scopus 로고    scopus 로고
    • The gene for autosomal dominant craniometaphyseal dysplasia maps to chromosome 5p and is distinct from the growth hormone-receptor gene
    • Nurnberg P, Tinschert S, Mrug M, Hampe J, Muller CR, Fuhrmann E, Braun HS, Reis A. The gene for autosomal dominant craniometaphyseal dysplasia maps to chromosome 5p and is distinct from the growth hormone-receptor gene. Am J Hum Genet 1997;61:918-923.
    • (1997) Am J Hum Genet , vol.61 , pp. 918-923
    • Nurnberg, P.1    Tinschert, S.2    Mrug, M.3    Hampe, J.4    Muller, C.R.5    Fuhrmann, E.6    Braun, H.S.7    Reis, A.8
  • 48
    • 0031912018 scopus 로고    scopus 로고
    • Identification of a mutation in DLX3 associated with tricho-dento-osseous TDO syndrome
    • Price JA, Bowden DW, Wright JT, Pettenati MJ, Hart TC. Identification of a mutation in DLX3 associated with tricho-dento-osseous TDO syndrome. Hum Mol Genet 1998;7:563-569.
    • (1998) Hum Mol Genet , vol.7 , pp. 563-569
    • Price, J.A.1    Bowden, D.W.2    Wright, J.T.3    Pettenati, M.J.4    Hart, T.C.5
  • 49
    • 0031725947 scopus 로고    scopus 로고
    • Inactivating mutation in the human parathyroid hormone receptor type 1 gene in Blomstrand chondrodysplasia
    • 13912
    • Karaplis AC, He B, Nguyen MT, Young ID, Semeraro D, Ozawa H, Amizuka N. Inactivating mutation in the human parathyroid hormone receptor type 1 gene in Blomstrand chondrodysplasia. Endocrinology 1998;13912:5255-5258.
    • (1998) Endocrinology , pp. 5255-5258
    • Karaplis, A.C.1    He, B.2    Nguyen, M.T.3    Young, I.D.4    Semeraro, D.5    Ozawa, H.6    Amizuka, N.7
  • 50
    • 0031769483 scopus 로고    scopus 로고
    • A homozygous inactivating mutation in the parathyroid hormone/parathyroid hormone-related peptide receptor causing Blomstrand chondrodysplasia
    • Zhang P, Jobert AS, Couvineau A, Silve C. A homozygous inactivating mutation in the parathyroid hormone/parathyroid hormone-related peptide receptor causing Blomstrand chondrodysplasia. J Clin Endocrinol Metab 1998;839:3365-3368.
    • (1998) J Clin Endocrinol Metab , vol.839 , pp. 3365-3368
    • Zhang, P.1    Jobert, A.S.2    Couvineau, A.3    Silve, C.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.