메뉴 건너뛰기




Volumn 88, Issue 1, 2010, Pages 9-14

Neurofibromatosis type 1 is a disorder of dysplasia: The importance of distinguishing features, consequences, and complications

Author keywords

[No Author keywords available]

Indexed keywords

AMPUTATION; ASTROCYTOMA; BLINDNESS; BONE DYSPLASIA; BRAIN AQUEDUCT STENOSIS; CAFE AU LAIT SPOT; CARCINOID; CENTRAL NERVOUS SYSTEM DISEASE; COLON DISEASE; COLON HYPERGANGLIONOSIS; CONGENITAL GLAUCOMA; CONGENITAL HEART MALFORMATION; CORNEA DISEASE; DEATH; DENTAL CARIES; DYSPNEA; GASTROINTESTINAL STROMAL TUMOR; GLIOMA; HUMAN; HYPERPIGMENTATION; HYPERTENSION; IRIS DISEASE; JUVENILE XANTHOGRANULOMA; LUNG FIBROSIS; MACROCEPHALY; NEUROFIBROMA; NEUROFIBROMATOSIS; NEUROFIBROSARCOMA; NEUROLOGICAL COMPLICATION; PAIN; PARALYSIS; PATHOGENESIS; PHEOCHROMOCYTOMA; PRIORITY JOURNAL; REVIEW; SHORT STATURE; SKIN HEMANGIOMA; VASCULAR DISEASE; VISUAL IMPAIRMENT; WEAKNESS;

EID: 75749142748     PISSN: 15420752     EISSN: 15420760     Source Type: Journal    
DOI: 10.1002/bdra.20616     Document Type: Review
Times cited : (33)

References (49)
  • 1
    • 0033001620 scopus 로고    scopus 로고
    • The Nf1 tumor suppressor regulates mouse skin wound healing, fibroblast proliferation and collagen deposited by fibroblasts
    • Atit R, Crowe M, Greenbalgh D, et al. 1999. The Nf1 tumor suppressor regulates mouse skin wound healing, fibroblast proliferation and collagen deposited by fibroblasts. J Invest Dermatol 112:835-842.
    • (1999) J Invest Dermatol , vol.112 , pp. 835-842
    • Atit, R.1    Crowe, M.2    Greenbalgh, D.3
  • 2
    • 0027460345 scopus 로고
    • Neurofibromin, a predominantly neuronal GTPase activating protein in the adult, is ubiquitously expressed during development
    • Daston MM, Ratner N. 1992. Neurofibromin, a predominantly neuronal GTPase activating protein in the adult, is ubiquitously expressed during development. Dev Dyn 195:216-226.
    • (1992) Dev Dyn , vol.195 , pp. 216-226
    • Daston, M.M.1    Ratner, N.2
  • 3
    • 33847316896 scopus 로고    scopus 로고
    • Guidelines for the diagnosis and management of individuals with neurofibromatosis 1
    • Ferner RE, Huson SM, Thomas N, et al. 2007. Guidelines for the diagnosis and management of individuals with neurofibromatosis 1. J Med Genet 44:81-88.
    • (2007) J Med Genet , vol.44 , pp. 81-88
    • Ferner, R.E.1    Huson, S.M.2    Thomas, N.3
  • 4
    • 0006591152 scopus 로고
    • Tumors of the peripheral nervous system
    • Atlas of tumor pathology, Washington, DC: Armed Forces Institute of Pathology. pp
    • Harkin JC, Reed RJ. 1969. Tumors of the peripheral nervous system. In:Atlas of tumor pathology. Second series. Washington, DC: Armed Forces Institute of Pathology. pp. 67-106.
    • (1969) Second series , pp. 67-106
    • Harkin, J.C.1    Reed, R.J.2
  • 6
    • 0024324102 scopus 로고
    • Type 1 neurofibromatosis: Selective expression of extracellular matrix genes by Schwann cells, perineurial cells, and fibroblasts in mixed cultures
    • Jaakkola S, Peltonen J, Riccardi V, et al. 1989a. Type 1 neurofibromatosis: selective expression of extracellular matrix genes by Schwann cells, perineurial cells, and fibroblasts in mixed cultures. J Clin Invest 84:253-261.
    • (1989) J Clin Invest , vol.84 , pp. 253-261
    • Jaakkola, S.1    Peltonen, J.2    Riccardi, V.3
  • 7
    • 75749155299 scopus 로고
    • Extracellular matrix gene expression by Schwann cells, perineurial cells and fibroblasts cultured from cutaneous neurofibromas
    • Jaakkola S, Peltonen J, Uitto J, 1989b. Extracellular matrix gene expression by Schwann cells, perineurial cells and fibroblasts cultured from cutaneous neurofibromas. Clin Res 37:635A.
    • (1989) Clin Res , vol.37
    • Jaakkola, S.1    Peltonen, J.2    Uitto, J.3
  • 8
    • 0028307836 scopus 로고
    • Tumour predisposition in mice heterozygous for a targeted mutation in Nf1
    • Jacks T, Shih TS, Schmitt EM, et al. 1994. Tumour predisposition in mice heterozygous for a targeted mutation in Nf1. Nature Genet 7:353-361.
    • (1994) Nature Genet , vol.7 , pp. 353-361
    • Jacks, T.1    Shih, T.S.2    Schmitt, E.M.3
  • 9
    • 38549102668 scopus 로고    scopus 로고
    • The loss of Nf1 transiently promotes self-renewal but not tumorigenesis by neural crest stem cells
    • Joseph NM, Mosher JT, Buchstaller J, et al. 2008. The loss of Nf1 transiently promotes self-renewal but not tumorigenesis by neural crest stem cells. Cancer Cell 13:129-140.
    • (2008) Cancer Cell , vol.13 , pp. 129-140
    • Joseph, N.M.1    Mosher, J.T.2    Buchstaller, J.3
  • 10
    • 10344233141 scopus 로고    scopus 로고
    • Neural crest stem cells undergo multilineage differentiation in developing peripheral nerves to generate endoneurial fibroblasts in addition to Schwann cells
    • Joseph NM, Mukouyama Y, Mosher JT, et al. 2004. Neural crest stem cells undergo multilineage differentiation in developing peripheral nerves to generate endoneurial fibroblasts in addition to Schwann cells. Development 131:5599-5612.
    • (2004) Development , vol.131 , pp. 5599-5612
    • Joseph, N.M.1    Mukouyama, Y.2    Mosher, J.T.3
  • 12
    • 33750435875 scopus 로고    scopus 로고
    • Vitamin D deficiency associated with number of neurofibromas in Neurofibromatosis 1
    • Lammert M, Friedman JM, Roth HJ, et al. 2006. Vitamin D deficiency associated with number of neurofibromas in Neurofibromatosis 1. J Med Genet 43:810-813.
    • (2006) J Med Genet , vol.43 , pp. 810-813
    • Lammert, M.1    Friedman, J.M.2    Roth, H.J.3
  • 13
    • 0007641773 scopus 로고
    • Detroit: Wayne State University Press
    • Masson P., 1970. Human tumors. Detroit: Wayne State University Press.
    • (1970) Human tumors
    • Masson, P.1
  • 14
    • 33744722469 scopus 로고    scopus 로고
    • Neurofibroma-associated growth factors activate a distinct signaling network to alter the function of neurofibromin-deficient endothelial cells
    • Munchhof AM, Li F, White HA, et al. 2006. Neurofibroma-associated growth factors activate a distinct signaling network to alter the function of neurofibromin-deficient endothelial cells. Hum Mol Genet 15:1858-1869.
    • (2006) Hum Mol Genet , vol.15 , pp. 1858-1869
    • Munchhof, A.M.1    Li, F.2    White, H.A.3
  • 15
    • 0018598556 scopus 로고
    • Cell-cell interaction as an epigenetic determinant in the expression of mutant neural crest cells
    • Riccardi VM. 1979. Cell-cell interaction as an epigenetic determinant in the expression of mutant neural crest cells. Birth Defects Orig Artic Ser 15;89-98.
    • (1979) Birth Defects Orig Artic Ser , vol.15 , pp. 89-98
    • Riccardi, V.M.1
  • 16
    • 0019731109 scopus 로고
    • Cutaneous manifestations of neurofibromatosis cellular interaction, pigmentation, and mast cells
    • Riccardi VM. 1981a. Cutaneous manifestations of neurofibromatosis cellular interaction, pigmentation, and mast cells. Birth Defects Orig Artic Ser 17:129-145.
    • (1981) Birth Defects Orig Artic Ser , vol.17 , pp. 129-145
    • Riccardi, V.M.1
  • 17
    • 0019834061 scopus 로고
    • Von Recklinghausen neurofibromatosis
    • Riccardi VM. 1981b. Von Recklinghausen neurofibromatosis. N Engl J Med 305:1617-1627.
    • (1981) N Engl J Med , vol.305 , pp. 1617-1627
    • Riccardi, V.M.1
  • 18
    • 0023202858 scopus 로고
    • Mast cell stabilization to decrease neurofibroma growth: Preliminary experience with ketotifen
    • Riccardi VM. 1987. Mast cell stabilization to decrease neurofibroma growth: preliminary experience with ketotifen. Arch Dermatol 123:1011-1016.
    • (1987) Arch Dermatol , vol.123 , pp. 1011-1016
    • Riccardi, V.M.1
  • 19
    • 0024152498 scopus 로고
    • Editorial: NF is more than neurofibromas
    • Riccardi VM. 1988. Editorial: NF is more than neurofibromas. Neurofibromatosis 1:1-2.
    • (1988) Neurofibromatosis , vol.1 , pp. 1-2
    • Riccardi, V.M.1
  • 22
    • 0027278969 scopus 로고
    • A controlled multiphase trial of ketotifen to minimize neurofibroma-associated pain and itching
    • Riccardi VM. 1993. A controlled multiphase trial of ketotifen to minimize neurofibroma-associated pain and itching. Arch Dermatol 129:577-581.
    • (1993) Arch Dermatol , vol.129 , pp. 577-581
    • Riccardi, V.M.1
  • 23
    • 0033918090 scopus 로고    scopus 로고
    • Histogenesis control genes and neurofibromatosis 1
    • Riccardi VM. 2000a. Histogenesis control genes and neurofibromatosis 1. Eur J Pediatr 159:475-476.
    • (2000) Eur J Pediatr , vol.159 , pp. 475-476
    • Riccardi, V.M.1
  • 24
    • 0033769905 scopus 로고    scopus 로고
    • Of mass and men: Neurofibromas and histogenesis
    • Riccardi VM. 2000b. Of mass and men: neurofibromas and histogenesis. Arch Dermatol 136:1257-1258.
    • (2000) Arch Dermatol , vol.136 , pp. 1257-1258
    • Riccardi, V.M.1
  • 25
    • 0033676248 scopus 로고    scopus 로고
    • The vasculopathy of NF1 and histogenesis control genes
    • Riccardi VM. 2000c. The vasculopathy of NF1 and histogenesis control genes. Clin Genet 58:345-347.
    • (2000) Clin Genet , vol.58 , pp. 345-347
    • Riccardi, V.M.1
  • 26
    • 34548433102 scopus 로고    scopus 로고
    • The genetic predisposition to and histogenesis of neurofibromas and neurofibrosarcoma in neurofibromatosis type 1
    • Riccardi VM. 2007. The genetic predisposition to and histogenesis of neurofibromas and neurofibrosarcoma in neurofibromatosis type 1. Neurosurg Focus 22:E3.
    • (2007) Neurosurg Focus , vol.22
    • Riccardi, V.M.1
  • 28
    • 0019148095 scopus 로고
    • The pathophysiology of neurofibromatosis. I. Resistance in vitro to 3-nitrotyrosine as an expression of the mutation
    • Riccardi VM, Maragos VA. 1980. The pathophysiology of neurofibromatosis. I. Resistance in vitro to 3-nitrotyrosine as an expression of the mutation. In Vitro 16:706-714.
    • (1980) In Vitro , vol.16 , pp. 706-714
    • Riccardi, V.M.1    Maragos, V.A.2
  • 29
    • 0019741676 scopus 로고
    • Characteristics of skin and tumor fibroblasts from neurofibromatosis patients
    • Riccardi VM, Maragos VA. 1981. Characteristics of skin and tumor fibroblasts from neurofibromatosis patients. Adv Neurol 29:191-198.
    • (1981) Adv Neurol , vol.29 , pp. 191-198
    • Riccardi, V.M.1    Maragos, V.A.2
  • 31
    • 0027979146 scopus 로고
    • Loss of the normal NF1 allele from the bone marrow of children with type 1 neurofibromatosis and malignant myeloid disorders
    • Shannon KM, O'Connell P, Martin GA, et al. 1994. Loss of the normal NF1 allele from the bone marrow of children with type 1 neurofibromatosis and malignant myeloid disorders. N Engl J Med 330:597-601.
    • (1994) N Engl J Med , vol.330 , pp. 597-601
    • Shannon, K.M.1    O'Connell, P.2    Martin, G.A.3
  • 32
    • 0034730635 scopus 로고    scopus 로고
    • Single cell Ras-GTP analysis reveals altered Ras activity in a subpopulation of neurofibroma Schwann cells but not fibroblasts
    • Sherman LS, Atit R, Rosenbaum T, et al. 2000. Single cell Ras-GTP analysis reveals altered Ras activity in a subpopulation of neurofibroma Schwann cells but not fibroblasts. J Biol Chem 275:30740-30745.
    • (2000) J Biol Chem , vol.275 , pp. 30740-30745
    • Sherman, L.S.1    Atit, R.2    Rosenbaum, T.3
  • 33
    • 0041877821 scopus 로고
    • The adipose tissue of peripheral nerves
    • Sunderland S. 1945. The adipose tissue of peripheral nerves. Brain 68:118-124.
    • (1945) Brain , vol.68 , pp. 118-124
    • Sunderland, S.1
  • 34
    • 0001395122 scopus 로고
    • The perineurium of peripheral nerves
    • Sunderland S, Bradley KC. 1952. The perineurium of peripheral nerves. Anat Rec 113:125-141.
    • (1952) Anat Rec , vol.113 , pp. 125-141
    • Sunderland, S.1    Bradley, K.C.2
  • 35
    • 0006367434 scopus 로고
    • Stress-strain phenomena in denervated peripheral nerve trunks
    • Sunderland S, Bradley KC. 1961a. Stress-strain phenomena in denervated peripheral nerve trunks. Brain 84:125-127.
    • (1961) Brain , vol.84 , pp. 125-127
    • Sunderland, S.1    Bradley, K.C.2
  • 36
    • 0000348585 scopus 로고
    • Stress-strain phenomena in human peripheral nerve trunks
    • Sunderland S, Bradley KC. 1961b. Stress-strain phenomena in human peripheral nerve trunks. Brain 84:102-119.
    • (1961) Brain , vol.84 , pp. 102-119
    • Sunderland, S.1    Bradley, K.C.2
  • 38
    • 0141594942 scopus 로고    scopus 로고
    • Local regulation of fat metabolism in peripheral nerves
    • Verheijen MHG, Chrast R, Burrola P, Lemke G. 2003. Local regulation of fat metabolism in peripheral nerves. Genes Dev 17:2450-2464.
    • (2003) Genes Dev , vol.17 , pp. 2450-2464
    • Verheijen, M.H.G.1    Chrast, R.2    Burrola, P.3    Lemke, G.4
  • 40
    • 0029120950 scopus 로고
    • Loss of neurofibromin results in neurotrophin-independent survival of embryonic sensory and sympathetic neurons
    • Vogel KS, Brannan CI, Jenkins NA, et al. 1995. Loss of neurofibromin results in neurotrophin-independent survival of embryonic sensory and sympathetic neurons. Cell 82:733-742.
    • (1995) Cell , vol.82 , pp. 733-742
    • Vogel, K.S.1    Brannan, C.I.2    Jenkins, N.A.3
  • 42
    • 33845460050 scopus 로고    scopus 로고
    • Reduced growth of Drosophila neurofibromatosis 1 mutants reflects a non-cell-autonomous requirement for GTPase-Activating Protein activity in larval neurons
    • Walker JA, Tchoudakova AV, McKenney PT, et al. 2006. Reduced growth of Drosophila neurofibromatosis 1 mutants reflects a non-cell-autonomous requirement for GTPase-Activating Protein activity in larval neurons. Genes Dev 20:3311-3323.
    • (2006) Genes Dev , vol.20 , pp. 3311-3323
    • Walker, J.A.1    Tchoudakova, A.V.2    McKenney, P.T.3
  • 43
    • 33646522740 scopus 로고    scopus 로고
    • Perinatal epidermal growth factor receptor blockade prevents peripheral nerve disruption in a mouse model reminiscent of benign world health organization grade I neurofibroma
    • Wu J, Crimmins JT, Monk KR, et al. 2006a. Perinatal epidermal growth factor receptor blockade prevents peripheral nerve disruption in a mouse model reminiscent of benign world health organization grade I neurofibroma. Am J Pathol 168:1686-1696.
    • (2006) Am J Pathol , vol.168 , pp. 1686-1696
    • Wu, J.1    Crimmins, J.T.2    Monk, K.R.3
  • 44
    • 33646158223 scopus 로고    scopus 로고
    • Nf1 haploinsufficiency augments angiogenesis
    • Wu M, Wallace MR, Muir D. 2006b. Nf1 haploinsufficiency augments angiogenesis. Oncogene 25:2297-2303.
    • (2006) Oncogene , vol.25 , pp. 2297-2303
    • Wu, M.1    Wallace, M.R.2    Muir, D.3
  • 45
    • 33749024989 scopus 로고    scopus 로고
    • Neurofibromin plays a critical role in modulating osteoblast differentiation of mesenchymal stem/ progenitor cells
    • Wu X, Estwick SA, Chen S, et al. 2006c. Neurofibromin plays a critical role in modulating osteoblast differentiation of mesenchymal stem/ progenitor cells. Hum Mol Genet 15:2837-2845.
    • (2006) Hum Mol Genet , vol.15 , pp. 2837-2845
    • Wu, X.1    Estwick, S.A.2    Chen, S.3
  • 46
    • 41149133470 scopus 로고    scopus 로고
    • Rac1 mediates the osteoclast gains-infunction induced by haploinsufficiency of Nf1
    • Yan J, Chen S, Zhang Y, et al. 2008. Rac1 mediates the osteoclast gains-infunction induced by haploinsufficiency of Nf1. Hum Mol Genet 17:936-948.
    • (2008) Hum Mol Genet , vol.17 , pp. 936-948
    • Yan, J.1    Chen, S.2    Zhang, Y.3
  • 47
    • 9144260570 scopus 로고    scopus 로고
    • Neurofibromin-deficient Schwann cells secrete a potent migratory stimulus for Nf1+/- mast cells
    • Yang F-C, Ingram DA, Chen S, et al. 2003. Neurofibromin-deficient Schwann cells secrete a potent migratory stimulus for Nf1+/- mast cells. J Clin Invest 112:1851-1861.
    • (2003) J Clin Invest , vol.112 , pp. 1851-1861
    • Yang, F.-C.1    Ingram, D.A.2    Chen, S.3
  • 48
    • 54549095884 scopus 로고    scopus 로고
    • Nf1-dependent tumors require a microenvironment containing Nf1+/- and c-kit-dependent bone marrow
    • Yang FC, Ingram DA, Chen S, et al. 2008. Nf1-dependent tumors require a microenvironment containing Nf1+/- and c-kit-dependent bone marrow. Cell 135:437-448.
    • (2008) Cell , vol.135 , pp. 437-448
    • Yang, F.C.1    Ingram, D.A.2    Chen, S.3
  • 49
    • 38549108547 scopus 로고    scopus 로고
    • Induction of abnormal proliferation by nonmyelinating schwann cells triggers neurofibroma formation
    • Zheng H, Chang L, Patel N, et al. 2008. Induction of abnormal proliferation by nonmyelinating schwann cells triggers neurofibroma formation. Cancer Cell 13:117-128.
    • (2008) Cancer Cell , vol.13 , pp. 117-128
    • Zheng, H.1    Chang, L.2    Patel, N.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.