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Volumn 304, Issue 4, 2012, Pages 325-331

Bone mineral metabolism in patients with neurofibromatosis type 1 (von Recklingausen disease)

Author keywords

Bone mineral alterations; Neurofibromatosis type 1; Osteoporosis; Vitamin D

Indexed keywords

25 HYDROXYVITAMIN D; ALKALINE PHOSPHATASE BONE ISOENZYME; CALCIUM; COLECALCIFEROL; OSTEOCALCIN; VITAMIN D;

EID: 84862835451     PISSN: 03403696     EISSN: 1432069X     Source Type: Journal    
DOI: 10.1007/s00403-011-1191-3     Document Type: Article
Times cited : (49)

References (47)
  • 1
    • 0036694321 scopus 로고    scopus 로고
    • Hypophosphatemic osteomalacia in neurofibromatosis 1. hypotheses for pathogenesis and higher incidence of spinal deformity
    • Abdel-Wanis M, Kawahara N (2002) Hypophosphatemic osteomalacia in neurofibromatosis 1. hypotheses for pathogenesis and higher incidence of spinal deformity. Med Hypotheses 59:183-185
    • (2002) Med Hypotheses , vol.59 , pp. 183-185
    • Abdel-Wanis, M.1    Kawahara, N.2
  • 4
    • 0033001620 scopus 로고    scopus 로고
    • The Nf1 tumor suppressor regulates mouse skin wound healing, fibroblast proliferation, and collagen deposited by fibroblasts
    • DOI 10.1046/j.1523-1747.1999.00609.x
    • Atit RP, Crowe MJ, Greenhalgh DG, Wenstrup RJ, Ratner N (1999) The Nf1 tumor suppressor regulates mouse skin wound healing, fibroblast proliferation, and collagen deposited by fibroblasts. J Invest Dermatol 112:835-842 (Pubitemid 29277981)
    • (1999) Journal of Investigative Dermatology , vol.112 , Issue.6 , pp. 835-842
    • Atit, R.P.1    Crowe, M.J.2    Greenhalgh, D.G.3    Wenstrup, R.J.4    Ratner, N.5
  • 7
    • 57349102461 scopus 로고    scopus 로고
    • Biologic characteristics of fibrous hamartoma from congenital pseudarthrosis of the tibia associated with neurofibromatosis type 1
    • Cho TJ, Seo JB, Lee HR, Yoo WJ, Chung CY, Choi IH (2008) Biologic characteristics of fibrous hamartoma from congenital pseudarthrosis of the tibia associated with neurofibromatosis type 1. J Bone Joint Surg Am 90:2735-2744
    • (2008) J Bone Joint Surg Am , vol.90 , pp. 2735-2744
    • Cho, T.J.1    Seo, J.B.2    Lee, H.R.3    Yoo, W.J.4    Chung, C.Y.5    Choi, I.H.6
  • 9
    • 34249868715 scopus 로고    scopus 로고
    • Decreased bone mineral density in neurofibromatosis type 1: Results from a pediatric cohort
    • DOI 10.1097/01.bpb.0000271310.87997.ae, PII 0124139820070600000021
    • Dulai S, Briody J, Schindeler A, North KN, Cowell CT, Little DG (2007) Decreased bone mineral density in neurofibromatosis type 1. results from a pediatric cohort. J Pediatr Orthop 27:472-475 (Pubitemid 46868318)
    • (2007) Journal of Pediatric Orthopaedics , vol.27 , Issue.4 , pp. 472-475
    • Dulai, S.1    Briody, J.2    Schindeler, A.3    North, K.N.4    Cowell, C.T.5    Little, D.G.6
  • 10
    • 33751412300 scopus 로고    scopus 로고
    • ATF4 mediation of NF1 functions in osteoblast reveals a nutritional basis for congenital skeletal dysplasiae
    • DOI 10.1016/j.cmet.2006.10.010, PII S1550413106003391
    • Elefteriou F, Benson MD, Sowa H, Starbuck M, Liu X, Ron D, Parada LF, Karsenty G (2006) ATF4 mediation of NF1 functions in osteoblast reveals a nutritional basis for congenital skeletal dysplasiae. Cell Metab 4:441-451 (Pubitemid 44817348)
    • (2006) Cell Metabolism , vol.4 , Issue.6 , pp. 441-451
    • Elefteriou, F.1    Benson, M.D.2    Sowa, H.3    Starbuck, M.4    Liu, X.5    Ron, D.6    Parada, LuisF.7    Karsenty, G.8
  • 11
    • 77953957405 scopus 로고    scopus 로고
    • The neurofibromatosis
    • Ferner RE (2010) The neurofibromatosis. Pract Neurol 10:82-93
    • (2010) Pract Neurol , vol.10 , pp. 82-93
    • Ferner, R.E.1
  • 12
    • 0036700962 scopus 로고    scopus 로고
    • Neurofibromatosis 1: Clinical manifestations and diagnostic criteria
    • Friedman JM (2002) Neurofibromatosis 1. clinical manifestations and diagnostic criteria. J Child Neurol 17:548-554 (Pubitemid 35203613)
    • (2002) Journal of Child Neurology , vol.17 , Issue.8 , pp. 548-554
    • Friedman, J.M.1
  • 14
    • 77955842145 scopus 로고    scopus 로고
    • Osteoclasts in neurofibromatosis type 1 display enhanced resorption capacity, aberrant morphology, and resistance to serum deprivation
    • Heervä E, Alanne MH, Peltonen S, Kuorilehto T, Hentunen T, Väänänen K, Peltonen J (2010) Osteoclasts in neurofibromatosis type 1 display enhanced resorption capacity, aberrant morphology, and resistance to serum deprivation. Bone 47:583-590
    • (2010) Bone , vol.47 , pp. 583-590
    • Heervä, E.1    Alanne, M.H.2    Peltonen, S.3    Kuorilehto, T.4    Hentunen, T.5    Väänänen, K.6    Peltonen, J.7
  • 16
    • 0024205878 scopus 로고
    • Von Recklinghausen neurofibromatosis. A clinical and population study in south-east Wales
    • Huson SM, Harper PS, Compston DA (1988) Von Recklinghausen neurofibromatosis. A clinical and population study in south-east Wales. Brain 111:1355-1381 (Pubitemid 19028458)
    • (1988) Brain , vol.111 , Issue.6 , pp. 1355-1381
    • Huson, S.M.1    Harper, P.S.2    Compston, D.A.S.3
  • 17
    • 0035188789 scopus 로고    scopus 로고
    • Decreased bone mineral density in neurofibromatosis-1 patients with spinal deformities
    • DOI 10.1007/s001980170032
    • Illés T, Halmai V, de Jonge T, Dubousset J (2001) Decreased bone mineral density in neurofibromatosis-1 patients with spinal deformities. Osteoporos Int 12:823-827 (Pubitemid 33086269)
    • (2001) Osteoporosis International , vol.12 , Issue.10 , pp. 823-827
    • Illes, T.1    Halmai, V.2    De Jonge, T.3    Dubousset, J.4
  • 18
    • 0028556527 scopus 로고
    • Assessment of fracture risk and its application to screening for postmenopausal osteoporosis: Synopsis of a WHO report
    • Kanis JA (1994) Assessment of fracture risk and its application to screening for postmenopausal osteoporosis: synopsis of a WHO report. Osteoporos Int 4:368-381
    • (1994) Osteoporos Int , vol.4 , pp. 368-381
    • Kanis, J.A.1
  • 19
    • 0028913964 scopus 로고
    • Analysis of cell-mediated mineralization in culture of bone-derived embryonic cells with neurofibromatosis
    • Klein BY, Rojansky N, Gal I, Shlomai Z, Liebergall M, Ben- Bassat H (1995) Analysis of cell-mediated mineralization in culture of bone-derived embryonic cells with neurofibromatosis. J Cell Biochem 57:530-542
    • (1995) J Cell Biochem , vol.57 , pp. 530-542
    • Klein, B.Y.1    Rojansky, N.2    Gal, I.3    Shlomai, Z.4    Liebergall, M.5    Ben- Bassat, H.6
  • 22
    • 17644407013 scopus 로고    scopus 로고
    • Case 13-2005: A 48-year-old man with weakness of the limbs and multiple tumors of spinal nerves
    • DOI 10.1056/NEJMcpc059008
    • Korf BR, Henson JW, Stemmer-Rachamimov A (2005) Case records of the Massachusetts General Hospital. Case 13-2005. A 48-year-old man with weakness of the limbs and multiple tumors of spinal nerves. N Engl J Med 352:1800-1808 (Pubitemid 40570929)
    • (2005) New England Journal of Medicine , vol.352 , Issue.17 , pp. 1800-1808
    • Korf, B.R.1    Henson, J.W.2    Stemmer-Rachamimov, A.3
  • 23
    • 0030773834 scopus 로고    scopus 로고
    • Opposing BMP and EGF signalling pathways converge on the TGF-β family mediator Smad1
    • DOI 10.1038/39348
    • Kretzschmar M, Doody J, Massagué J (1997) Opposing BMP and EGF signalling pathways converge on the TGF-beta family mediator Smad1. Nature 389:618-622 (Pubitemid 27446181)
    • (1997) Nature , vol.389 , Issue.6651 , pp. 618-622
    • Kretzschmar, M.1    Doody, J.2    Massague, J.3
  • 24
    • 16644392408 scopus 로고    scopus 로고
    • NF1 tumor suppressor protein and mRNA in skeletal tissues of developing and adult normal mouse and NF1-deficient embryos
    • DOI 10.1359/JBMR.040130
    • Kuorilehto T, Nissinen M, Koivunen J, Benson MD, Peltonen J (2004) NF1 tumor suppressor protein and mRNA in skeletal tissues of developing and adult normal mouse and NF1-deficient embryos. J Bone Miner Res 19:983-989 (Pubitemid 41103455)
    • (2004) Journal of Bone and Mineral Research , vol.19 , Issue.6 , pp. 983-989
    • Kuorilehto, T.1    Nissinen, M.2    Koivunen, J.3    Benson, M.D.4    Peltonen, J.5
  • 25
    • 23744514711 scopus 로고    scopus 로고
    • Decreased bone mineral density and content in neurofibromatosis type 1: Lowest local values are located in the load-carrying parts of the body
    • DOI 10.1007/s00198-004-1801-4
    • Kuorilehto T, Pöyhönen M, Bloigu R, Heikkinen J, Väänänen K, Peltonen J (2005) Decreased bone mineral density and content in neurofibromatosis type 1. lowest local values are located in the load-carrying parts of the body. Osteoporos Int 16:928-936 (Pubitemid 41127102)
    • (2005) Osteoporosis International , vol.16 , Issue.8 , pp. 928-936
    • Kuorilehto, T.1    Poyhonen, M.2    Bloigu, R.3    Heikkinen, J.4    Vaananen, K.5    Peltonen, J.6
  • 27
    • 33947098325 scopus 로고    scopus 로고
    • Recent developments in neurofibromatosis type 1
    • DOI 10.1097/WCO.0b013e3280895da8, PII 0001905220070400000004
    • Lee MJ, Stephenson DA (2007) Recent developments in neurofibromatosis type 1. Curr Opin Neurol 20:135-141 (Pubitemid 46411497)
    • (2007) Current Opinion in Neurology , vol.20 , Issue.2 , pp. 135-141
    • Lee, M.-J.1    Stephenson, D.A.2
  • 31
    • 0142027643 scopus 로고    scopus 로고
    • Role of Osteoclast Extracellular Signal-Regulated Kinase (ERK) in Cell Survival and Maintenance of Cell Polarity
    • DOI 10.1359/jbmr.2003.18.7.1198
    • Nakamura H, Hirata A, Tsuji T, Yamamoto T (2003) Role of osteoclast extracellular signal-regulated kinase (ERK) in cell survival and maintenance of cell polarity. J Bone Miner Res 18:1198-1205 (Pubitemid 37294912)
    • (2003) Journal of Bone and Mineral Research , vol.18 , Issue.7 , pp. 1198-1205
    • Nakamura, H.1    Hirata, A.2    Tsuji, T.3    Yamamoto, T.4
  • 34
    • 0028009140 scopus 로고
    • National institutes of health consensus development conference statement on acoustic neuroma, 11-13 December 1991
    • The Consensus Development Panel
    • The Consensus Development Panel (1994) National Institutes of Health Consensus Development Conference Statement on Acoustic Neuroma, 11-13 December 1991. Arch Neurol 51:201-20.
    • (1994) Arch Neurol , vol.51 , pp. 201-220
  • 36
    • 0019834061 scopus 로고
    • Von Recklinghausen neurofibromatosis
    • Riccardi VM (1981) Von Recklinghausen neurofibromatosis. N Engl J Med 305:1617-1627
    • (1981) N Engl J Med , vol.305 , pp. 1617-1627
    • Riccardi, V.M.1
  • 37
    • 40849135622 scopus 로고    scopus 로고
    • Recent insights into bone development, homeostasis, and repair in type 1 neurofibromatosis (NF1)
    • Schindeler A, Little DG (2008) Recent insights into bone development, homeostasis, and repair in type 1 neurofibromatosis (NF1). Bone 42:616-622
    • (2008) Bone , vol.42 , pp. 616-622
    • Schindeler, A.1    Little, D.G.2
  • 39
    • 34247330161 scopus 로고    scopus 로고
    • The tumor suppressor neurofibromin confers sensitivity to apoptosis by Ras-dependent and Ras-independent pathways
    • DOI 10.1038/sj.cdd.4402057, PII 4402057
    • Shapira S, Barkan B, Friedman E, Kloog Y, Stein R (2007) The tumor suppressor neurofibromin confers sensitivity to apoptosis by Ras-dependent and Ras-independent pathways. Cell Death Differ 14:895-906 (Pubitemid 46629829)
    • (2007) Cell Death and Differentiation , vol.14 , Issue.5 , pp. 895-906
    • Shapira, S.1    Barkan, B.2    Fridman, E.3    Kloog, Y.4    Stein, R.5
  • 41
    • 0036700983 scopus 로고    scopus 로고
    • Genetics of neurofibromatosis 1 and the NF1 gene
    • Viskochil D (2002) Genetics of neurofibromatosis 1 and the NF1 gene. J Child Neurol 17:562-570 discussion 571-572, 646-651 (Pubitemid 35203615)
    • (2002) Journal of Child Neurology , vol.17 , Issue.8 , pp. 562-570
    • Viskochil, D.1
  • 42
    • 30644469500 scopus 로고    scopus 로고
    • RANKL-RANK signaling in osteoclastogenesis and bone disease
    • DOI 10.1016/j.molmed.2005.11.007, PII S1471491405002674
    • Wada T, Nakashima T, Hiroshi N, Penninger JM (2006) RANKL-RANK signaling in osteoclastogenesis and bone disease. Trends Mol Med 12:17-25 (Pubitemid 43089652)
    • (2006) Trends in Molecular Medicine , vol.12 , Issue.1 , pp. 17-25
    • Wada, T.1    Nakashima, T.2    Hiroshi, N.3    Penninger, J.M.4
  • 43
    • 0025289542 scopus 로고
    • Hypercalcemic hyperparathyroidism and hypophosphatemic osteomalacia complicating neurofibromatosis
    • DOI 10.1007/BF02554965
    • Weinstein RS, Harris RL (1990) Hypercalcemic hyperparathyroidism and hypophosphatemic osteomalacia complicating neurofibromatosis. Calcif Tissue Int 46:361-366 (Pubitemid 20176233)
    • (1990) Calcified Tissue International , vol.46 , Issue.6 , pp. 361-366
    • Weinstein, R.S.1    Harris, R.L.2
  • 44
    • 1642385308 scopus 로고    scopus 로고
    • Position statement: Executive summary
    • Writing Group for the ISCD Position Development Conference
    • Writing Group for the ISCD Position Development Conference (2004) Position statement : executive summary. J Clin Densitom 7:7-12
    • (2004) J Clin Densitom , vol.7 , pp. 7-12
  • 46
    • 0036700555 scopus 로고    scopus 로고
    • Neurofibromatosis 1. clinical review and exceptions to the rules
    • Young H, Hyman S, North K (2002) Neurofibromatosis 1. clinical review and exceptions to the rules. J Child Neurol 17:613-62.
    • (2002) J Child Neurol , vol.17 , pp. 613-662
    • Young, H.1    Hyman, S.2    North, K.3
  • 47
    • 0035835817 scopus 로고    scopus 로고
    • Neurofibromin, a tumor suppressor in the nervous system
    • DOI 10.1006/excr.2000.5138
    • Zhu Y, Parada LF (2001) Neurofibromin, a tumor suppressor in the nervous system. Exp Cell Res 264:19-28 (Pubitemid 32989078)
    • (2001) Experimental Cell Research , vol.264 , Issue.1 , pp. 19-28
    • Zhu, Y.1    Parada, L.F.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.