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Volumn 102, Issue 6, 2011, Pages 402-416

Rasopathies: Developmental disorders that predispose to cancer and skin manifestations;Rasopatías: Trastornos del desarrollo con predisposición al cáncer y manifestaciones cutáneas

Author keywords

RAS Mitogen activated protein kinase pathway; Rasopathies

Indexed keywords

MITOGEN ACTIVATED PROTEIN KINASE; RAS PROTEIN;

EID: 79958716830     PISSN: 00017310     EISSN: 15782190     Source Type: Journal    
DOI: 10.1016/j.ad.2011.02.010     Document Type: Short Survey
Times cited : (35)

References (111)
  • 2
    • 68649121646 scopus 로고    scopus 로고
    • The RASopathies: Developmental syndromes of Ras/MAPK pathway dysregulation
    • Tidyman WE, Rauen KA. The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation. Curr Opin Genet Dev. 2009;19:230-326.
    • (2009) Curr Opin Genet Dev , vol.19 , pp. 230-326
    • Tidyman, W.E.1    Rauen, K.A.2
  • 5
    • 0037075886 scopus 로고    scopus 로고
    • GTPase activating proteins: Critical regulators of intracellular signaling
    • DOI 10.1016/S0304-419X(01)00041-5, PII S0304419X01000415
    • Donovan S, Shannon KM, Bollag G. GTPase activating proteins: critical regulators of intracellular signaling. Biochim Biophys Acta. 2002;1602:23-45. (Pubitemid 34311898)
    • (2002) Biochimica et Biophysica Acta - Reviews on Cancer , vol.1602 , Issue.1 , pp. 23-45
    • Donovan, S.1    Shannon, K.M.2    Bollag, G.3
  • 6
    • 0037805547 scopus 로고    scopus 로고
    • RAS oncogenes: The first 30 years
    • DOI 10.1038/nrc1097
    • Malumbres M, Barbacid M. RAS oncogenes: the first 30 years. Nat Rev Cancer. 2003;3:459-65. (Pubitemid 37328850)
    • (2003) Nature Reviews Cancer , vol.3 , Issue.6 , pp. 459-465
    • Malumbres, M.1    Barbacid, M.2
  • 7
    • 16844376315 scopus 로고    scopus 로고
    • Oncogenic Ras in tumour progression and metastasis
    • DOI 10.1515/BC.2005.025
    • Giehl K. Oncogenic Ras in tumour progression and metastasis. Biol Chem. 2005;386:193-205. (Pubitemid 40485425)
    • (2005) Biological Chemistry , vol.386 , Issue.3 , pp. 193-205
    • Giehl, K.1
  • 8
    • 30944447568 scopus 로고    scopus 로고
    • The extracellular signal-regulated kinase: Multiple substrates regulate diverse cellular functions
    • DOI 10.1159/000094762, PII N130170763401
    • Yoon S, Seger R. The extracellular signal-regulated kinase: multiple substrates regulate diverse cellular functions. Growth Factors. 2006;24:21-44. (Pubitemid 43108774)
    • (2006) Growth Factors , vol.24 , Issue.1 , pp. 21-44
    • Yoon, S.1    Seger, R.2
  • 9
    • 0024376173 scopus 로고
    • ras Oncogenes in human cancer: A review
    • Bos JL. Ras Oncogenes in Human Cancer: a Review. Cancer Res. 1989;49:4682-9. (Pubitemid 19213607)
    • (1989) Cancer Research , vol.49 , Issue.17 , pp. 4682-4689
    • Bos, J.L.1
  • 10
    • 33947594129 scopus 로고    scopus 로고
    • Hyperactive Ras in developmental disorders and cancer
    • Schubbert S, Shannon K, Bollag G. Hyperactive Ras in developmental disorders and cancer. Nat Rev Cancer. 2007;7:295-308.
    • (2007) Nat Rev Cancer , vol.7 , pp. 295-308
    • Schubbert, S.1    Shannon, K.2    Bollag, G.3
  • 13
    • 19444387096 scopus 로고    scopus 로고
    • RASA1: Variable phenotype with capillary and arteriovenous malformations
    • DOI 10.1016/j.gde.2005.03.004, PII S0959437X05000523
    • Boon LM, Mulliken JB, Vikkula M. RASA1: variable phenotype with capillary and arteriovenous malformations. Curr Opin Genet Dev. 2005;15:265-9. (Pubitemid 40726049)
    • (2005) Current Opinion in Genetics and Development , vol.15 , Issue.3 SPEC. ISS. , pp. 265-269
    • Boon, L.M.1    Mulliken, J.B.2    Vikkula, M.3
  • 15
    • 78651380657 scopus 로고    scopus 로고
    • Activated Kras alters epidermal homeostasis of mouse skin, resulting in redundant skin and defective hair cycling
    • Mukhopadhyay A, Krishnaswami SR, Yu BD. Activated Kras alters epidermal homeostasis of mouse skin, resulting in redundant skin and defective hair cycling. J Invest Dermatol. 2010;131:311-9.
    • (2010) J Invest Dermatol , vol.131 , pp. 311-319
    • Mukhopadhyay, A.1    Krishnaswami, S.R.2    Yu, B.D.3
  • 16
    • 77955574059 scopus 로고    scopus 로고
    • Noonan syndrome: Clinical aspects and molecular pathogenesis
    • Tartaglia M, Zampino G, Gelb BD. Noonan syndrome: clinical aspects and molecular pathogenesis. Mol Syndromol. 2010;1:2-26.
    • (2010) Mol Syndromol , vol.1 , pp. 2-26
    • Tartaglia, M.1    Zampino, G.2    Gelb, B.D.3
  • 17
    • 63749111765 scopus 로고    scopus 로고
    • Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: Molecular diversity and associated phenotypic spectrum
    • Sarkozy A, Carta C, Moretti S, Zampino G, Digilio MC, Pantaleoni F, et al. Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. Hum Mutat. 2009;30:695-702.
    • (2009) Hum Mutat , vol.30 , pp. 695-702
    • Sarkozy, A.1    Carta, C.2    Moretti, S.3    Zampino, G.4    Digilio, M.C.5    Pantaleoni, F.6
  • 19
    • 79952112081 scopus 로고    scopus 로고
    • Mutational and functional analysis in human Ras/MAP kinase genetic syndromes
    • Tidyman WE, Rauen KA. Mutational and functional analysis in human Ras/MAP kinase genetic syndromes. Methods Mol Biol. 2010;661:433-47.
    • (2010) Methods Mol Biol , vol.661 , pp. 433-447
    • Tidyman, W.E.1    Rauen, K.A.2
  • 20
    • 49149115868 scopus 로고    scopus 로고
    • The RAS/MAPK syndromes: Novel roles of the RAS pathway in human genetic disorders
    • Aoki Y, Niihori T, Narumi Y, Kure S, Matsubara Y. The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders. Hum Mutat. 2008;29:992-1006.
    • (2008) Hum Mutat , vol.29 , pp. 992-1006
    • Aoki, Y.1    Niihori, T.2    Narumi, Y.3    Kure, S.4    Matsubara, Y.5
  • 25
    • 69349105766 scopus 로고    scopus 로고
    • Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair
    • Cordeddu V, Di Schiavi E, Pennacchio LA, Ma'ayan A, Sarkozy A, Fodale V, et al. Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair. Nat Genet. 2009;41:1022-6.
    • (2009) Nat Genet , vol.41 , pp. 1022-1026
    • Cordeddu, V.1    Di Schiavi, E.2    Pennacchio, L.A.3    Ma'ayan, A.4    Sarkozy, A.5    Fodale, V.6
  • 26
    • 77955583599 scopus 로고    scopus 로고
    • Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype
    • Martinelli S, De Luca A, Stellacci E, Rossi C, Checquolo S, Lepri F, et al. Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype. Am J Hum Genet. 2010;87:250-7.
    • (2010) Am J Hum Genet , vol.87 , pp. 250-257
    • Martinelli, S.1    De Luca, A.2    Stellacci, E.3    Rossi, C.4    Checquolo, S.5    Lepri, F.6
  • 32
    • 74949124967 scopus 로고    scopus 로고
    • Novel occurrence of microcystic lymphatic malformation and linear port-wine stain in patients with Noonan syndrome
    • Lee WJ, Lee DW, Yang JH, Chang SE, Lee MW, Choi JH, et al. Novel occurrence of microcystic lymphatic malformation and linear port-wine stain in patients with Noonan syndrome. Int J Dermatol. 2010;49:232-3.
    • (2010) Int J Dermatol , vol.49 , pp. 232-233
    • Lee, W.J.1    Lee, D.W.2    Yang, J.H.3    Chang, S.E.4    Lee, M.W.5    Choi, J.H.6
  • 33
    • 73849142941 scopus 로고    scopus 로고
    • Malignant diseases in Noonan syndrome and related disorders
    • Hasle H. Malignant diseases in Noonan syndrome and related disorders. Horm Res. 2009;72 Suppl2:8-14.
    • (2009) Horm Res , vol.72 , Issue.SUPPL. 2 , pp. 8-14
    • Hasle, H.1
  • 37
    • 3042761427 scopus 로고    scopus 로고
    • Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome
    • Sarkozy A, Conti E, Digilio MC, Marino B, Morini E, Pacileo G, et al. Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome. J Med Genet. 2004;41:e68.
    • (2004) J Med Genet , vol.41
    • Sarkozy, A.1    Conti, E.2    Digilio, M.C.3    Marino, B.4    Morini, E.5    Pacileo, G.6
  • 40
    • 36148961270 scopus 로고    scopus 로고
    • Malignant melanoma in a woman with LEOPARD syndrome: Identification of a germline PTPN11 mutation and a somatic BRAF mutation [18]
    • DOI 10.1111/j.1365-2133.2007.08229.x
    • Seishima M, Mizutani Y, Shibuya Y, Arakawa C, Yoshida R, Ogata T. Malignant melanoma in a woman with LEOPARD syndrome: identification of a germline PTPN11 mutation and a somatic BRAF mutation. Br J Dermatol. 2007;157:1297-9. (Pubitemid 350115702)
    • (2007) British Journal of Dermatology , vol.157 , Issue.6 , pp. 1297-1299
    • Seishima, M.1    Mizutani, Y.2    Shibuya, Y.3    Arakawa, C.4    Yoshida, R.5    Ogata, T.6
  • 41
    • 33744983965 scopus 로고    scopus 로고
    • Pathophysiology of neurofibromatosis type 1
    • American College of Physicians, American Physiological Society
    • Theos A, Korf BR. American College of Physicians, American Physiological Society. Pathophysiology of neurofibromatosis type 1. Ann Intern Med. 2006;144:842-9.
    • (2006) Ann Intern Med , vol.144 , pp. 842-849
    • Theos, A.1    Korf, B.R.2
  • 44
    • 77956108381 scopus 로고    scopus 로고
    • Clinical characterisation of 29 neurofibromatosis type-1 patients with molecularly ascertained 1.4 Mb type-1 NF1 deletions
    • Mautner VF, Kluwe L, Friedrich RE, Roehl AC, Bammert S, Hogel J, et al. Clinical characterisation of 29 neurofibromatosis type-1 patients with molecularly ascertained 1.4 Mb type-1 NF1 deletions. J Med Genet. 2010;47:623-30.
    • (2010) J Med Genet , vol.47 , pp. 623-630
    • Mautner, V.F.1    Kluwe, L.2    Friedrich, R.E.3    Roehl, A.C.4    Bammert, S.5    Hogel, J.6
  • 47
    • 0027427198 scopus 로고
    • Genotype, malleotype, phenotype, and randomness: Lessons from neurofibromatosis-1 (NF-1)
    • Riccardi VM. Genotype, malleotype, phenotype, and randomness: lessons from neurofibromatosis-1 (NF-1). Am J Hum Genet. 1993;53:301-4. (Pubitemid 23308923)
    • (1993) American Journal of Human Genetics , vol.53 , Issue.2 , pp. 301-304
    • Riccardi, V.M.1
  • 49
    • 0034094731 scopus 로고    scopus 로고
    • Use of the National Institutes of Health criteria for diagnosis of neurofibromatosis 1 in children
    • DeBella K, Szudek J, Friedman JM. Use of the national institutes of health criteria for diagnosis of neurofibromatosis 1 in children. Pediatrics. 2000;105(3 Pt 1):608-14. (Pubitemid 30129679)
    • (2000) Pediatrics , vol.105 , Issue.3 , pp. 608-614
    • DeBella, K.1    Szudek, J.2    Friedman, J.M.3
  • 50
    • 0013921936 scopus 로고
    • Diagnostic value of the cafe-au-lait spot in children
    • Whitehouse D. Diagnostic value of the cafe-au-lait spot in children. Arch Dis Child. 1966;41:316-9.
    • (1966) Arch Dis Child , vol.41 , pp. 316-319
    • Whitehouse, D.1
  • 51
  • 52
    • 0024205878 scopus 로고
    • Von Recklinghausen neurofibromatosis. A clinical and population study in south-east Wales
    • Huson SM, Harper PS, Compston DA. Von Recklinghausen neurofibromatosis. A clinical and population study in south-east Wales. Brain. 1988;111(Pt 6):1355-81.
    • (1988) Brain , vol.111 , Issue.PART 6 , pp. 1355-1381
    • Huson, S.M.1    Harper, P.S.2    Compston, D.A.3
  • 54
    • 0035849530 scopus 로고    scopus 로고
    • The clinical and diagnostic implications of mosaicism in the neurofibromatoses
    • Ruggieri M, Huson SM. The clinical and diagnostic implications of mosaicism in the neurofibromatoses. Neurology. 2001;56:1433-43. (Pubitemid 32532254)
    • (2001) Neurology , vol.56 , Issue.11 , pp. 1433-1443
    • Ruggieri, M.1    Huson, S.M.2
  • 55
    • 27144550883 scopus 로고    scopus 로고
    • Gonosomal mosaicism for a nonsense mutation (R1947X) in the NF1 gene in segmental neurofibromatosis type 1
    • Consoli C, Moss C, Green S, Balderson D, Cooper DN, Upadhyaya M. Gonosomal mosaicism for a nonsense mutation (R1947X) in the NF1 gene in segmental neurofibromatosis type 1. J Invest Dermatol. 2005;125:463-6.
    • (2005) J Invest Dermatol , vol.125 , pp. 463-466
    • Consoli, C.1    Moss, C.2    Green, S.3    Balderson, D.4    Cooper, D.N.5    Upadhyaya, M.6
  • 57
    • 0033758111 scopus 로고    scopus 로고
    • Localized pruritus: A presenting symptom of a spinal cord tumor in a child with features of neurofibromatosis
    • Johnson RE, Kanigsberg ND, Jiménez CL. Localized pruritus: a presenting symptom of a spinal cord tumor in a child with features of neurofibromatosis. J Am Acad Dermatol. 2000;43(5 Pt 2):958-61.
    • (2000) J Am Acad Dermatol , vol.43 , Issue.5 PART 2 , pp. 958-961
    • Johnson, R.E.1    Kanigsberg, N.D.2    Jiménez, C.L.3
  • 59
    • 65349086151 scopus 로고    scopus 로고
    • Mechanisms in the pathogenesis of malignant tumours in neurofibromatosis type 1
    • Brems H, Beert E, de Ravel T, Legius E. Mechanisms in the pathogenesis of malignant tumours in neurofibromatosis type 1. Lancet Oncol. 2009;10:508-15.
    • (2009) Lancet Oncol , vol.10 , pp. 508-515
    • Brems, H.1    Beert, E.2    De Ravel, T.3    Legius, E.4
  • 60
    • 1942452758 scopus 로고    scopus 로고
    • JXG, NF1, and JMML: Alphabet soup or a clinical issue?
    • Burgdorf WH, Zelger B. JXG, NF1, and JMML: alphabet soup or a clinical issue? Pediatr Dermatol. 2004;21:174-6.
    • (2004) Pediatr Dermatol , vol.21 , pp. 174-176
    • Burgdorf, W.H.1    Zelger, B.2
  • 65
    • 71749103918 scopus 로고    scopus 로고
    • Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome
    • Messiaen L, Yao S, Brems H, Callens T, Sathienkijkanchai A, Denayer E, et al. Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome. JAMA. 2009;302: 2111-8.
    • (2009) JAMA , vol.302 , pp. 2111-2118
    • Messiaen, L.1    Yao, S.2    Brems, H.3    Callens, T.4    Sathienkijkanchai, A.5    Denayer, E.6
  • 68
    • 0031311481 scopus 로고    scopus 로고
    • The alternative H-ras protein p19 displays properties of a negative regulator of p21Ras
    • Huang MY, Cohen JB. The alternative H-ras protein p19 displays properties of a negative regulator of p21Ras. Oncol Res. 1997;9:611-21. (Pubitemid 127787912)
    • (1997) Oncology Research , vol.9 , Issue.11-12 , pp. 611-621
    • Huang, M.Y.1    Cohen, J.B.2
  • 69
    • 0344838611 scopus 로고    scopus 로고
    • Roles of hnRNP A1, SR proteins, and p68 helicase in c-H-ras alternative splicing regulation
    • Guil S, Gattoni R, Carrascal M, Abian J, Stevenin J, Bach-Elias M. Roles of hnRNP A1, SR proteins, and p68 helicase in c-H-ras alternative splicing regulation. Mol Cell Biol. 2003;23:2927-41.
    • (2003) Mol Cell Biol , vol.23 , pp. 2927-2941
    • Guil, S.1    Gattoni, R.2    Carrascal, M.3    Abian, J.4    Stevenin, J.5    Bach-Elias, M.6
  • 70
    • 33747027723 scopus 로고    scopus 로고
    • Paternal bias in parental origin of HRAS mutations in Costello syndrome
    • DOI 10.1002/humu.20381
    • Sol-Church K, Stabley DL, Nicholson L, González IL, Gripp KW. Paternal bias in parental origin of HRAS mutations in Costello syndrome. Hum Mutat. 2006;27:736-41. (Pubitemid 44205066)
    • (2006) Human Mutation , vol.27 , Issue.8 , pp. 736-741
    • Sol-Church, K.1    Stabley, D.L.2    Nicholson, L.3    Gonzalez, I.L.4    Gripp, K.W.5
  • 71
    • 33847211041 scopus 로고    scopus 로고
    • Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome
    • Zampino G, Pantaleoni F, Carta C, Cobellis G, Vasta I, Neri C, et al. Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome. Hum Mutat. 2007;28:265-72.
    • (2007) Hum Mutat , vol.28 , pp. 265-272
    • Zampino, G.1    Pantaleoni, F.2    Carta, C.3    Cobellis, G.4    Vasta, I.5    Neri, C.6
  • 73
    • 78049298778 scopus 로고    scopus 로고
    • Costello syndrome with severe cutis laxa and mosaic HRAS G12S mutation
    • Girisha KM, Lewis LE, Phadke SR, Kutsche K. Costello syndrome with severe cutis laxa and mosaic HRAS G12S mutation. Am J Med Genet A. 2010;152A:2861-4.
    • (2010) Am J Med Genet A , vol.152 A , pp. 2861-2864
    • Girisha, K.M.1    Lewis, L.E.2    Phadke, S.R.3    Kutsche, K.4
  • 74
    • 75149112680 scopus 로고    scopus 로고
    • Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back
    • Rauen KA, Schoyer L, McCormick F, Lin AE, Allanson JE, Stevenson DA, et al. Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back. Am J Med Genet A. 2010;152A:4-24.
    • (2010) Am J Med Genet A , vol.152 A , pp. 4-24
    • Rauen, K.A.1    Schoyer, L.2    McCormick, F.3    Lin, A.E.4    Allanson, J.E.5    Stevenson, D.A.6
  • 76
    • 59149107178 scopus 로고    scopus 로고
    • Germline expression of H-Ras(G12 V) causes neurological deficits associated to Costello syndrome
    • Viosca J, Schuhmacher AJ, Guerra C, Barco A. Germline expression of H-Ras(G12 V) causes neurological deficits associated to Costello syndrome. Genes Brain Behav. 2009;8:60-71.
    • (2009) Genes Brain Behav , vol.8 , pp. 60-71
    • Viosca, J.1    Schuhmacher, A.J.2    Guerra, C.3    Barco, A.4
  • 79
    • 33847248863 scopus 로고    scopus 로고
    • Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations
    • Zenker M, Lehmann K, Schulz AL, Barth H, Hansmann D, Koenig R, et al. Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations. J Med Genet. 2007;44:131-5.
    • (2007) J Med Genet , vol.44 , pp. 131-135
    • Zenker, M.1    Lehmann, K.2    Schulz, A.L.3    Barth, H.4    Hansmann, D.5    Koenig, R.6
  • 80
    • 78650472338 scopus 로고    scopus 로고
    • Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders
    • Gremer L, Merbitz-Zahradnik T, Dvorsky R, Cirstea IC, Kratz CP, Zenker M, et al. Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders. Hum Mutat. 2011;32:33-43.
    • (2011) Hum Mutat , vol.32 , pp. 33-43
    • Gremer, L.1    Merbitz-Zahradnik, T.2    Dvorsky, R.3    Cirstea, I.C.4    Kratz, C.P.5    Zenker, M.6
  • 81
    • 33746603954 scopus 로고    scopus 로고
    • Distinguishing costello versus cardio-facio-cutaneous syndrome: BRAF mutations in patients with a costello phenotype [1]
    • DOI 10.1002/ajmg.a.31315
    • Rauen KA. Distinguishing Costello versus cardio-faciocutaneous syndrome: BRAF mutations in patients with a Costello phenotype. Am J Med Genet A. 2006;140:1681-3. (Pubitemid 44148257)
    • (2006) American Journal of Medical Genetics, Part A , vol.140 , Issue.15 , pp. 1681-1683
    • Rauen, K.A.1
  • 82
    • 33846655745 scopus 로고    scopus 로고
    • HRAS and the Costello syndrome
    • DOI 10.1111/j.1399-0004.2007.00743.x
    • Rauen KA. HRAS and the Costello syndrome. Clin Genet. 2007;71:101-8. (Pubitemid 46189213)
    • (2007) Clinical Genetics , vol.71 , Issue.2 , pp. 101-108
    • Rauen, K.A.1
  • 84
    • 0028577792 scopus 로고
    • Pathology of the elastic tissue of the skin in Costello syndrome. An image analysis study using mathematical morphology
    • Vila Torres J, Pineda Marfa M, González Ensenat MA, Lloreta Trull J. Pathology of the elastic tissue of the skin in Costello syndrome. An image analysis study using mathematical morphology. Anal Quant Cytol Histol. 1994;16:421-9.
    • (1994) Anal Quant Cytol Histol , vol.16 , pp. 421-429
    • Vila Torres, J.1    Pineda Marfa, M.2    González Ensenat, M.A.3    Lloreta Trull, J.4
  • 85
    • 0033927046 scopus 로고    scopus 로고
    • Decreased elastin deposition and high proliferation of fibroblasts from Costello syndrome are related to functional deficiency in the 67-kD elastin- binding protein
    • DOI 10.1086/302829
    • Hinek A, Smith AC, Cutiongco EM, Callahan JW, Gripp KW, Weksberg R. Decreased elastin deposition and high proliferation of fibroblasts from Costello syndrome are related to functional deficiency in the 67-kD elastin-binding protein. Am J Med Genet A. 2000;66:859-72. (Pubitemid 30470489)
    • (2000) American Journal of Human Genetics , vol.66 , Issue.3 , pp. 859-872
    • Hinek, A.1    Smith, A.C.2    Cutiongco, E.M.3    Callahan, J.W.4    Gripp, K.W.5    Weksberg, R.6
  • 90
    • 33644629727 scopus 로고    scopus 로고
    • Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome
    • Niihori T, Aoki Y, Narumi Y, Neri G, Cave H, Verloes A, et al. Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. Nat Genet. 2006;38:294-6.
    • (2006) Nat Genet , vol.38 , pp. 294-296
    • Niihori, T.1    Aoki, Y.2    Narumi, Y.3    Neri, G.4    Cave, H.5    Verloes, A.6
  • 91
    • 29144528806 scopus 로고    scopus 로고
    • Ras signaling from plasma membrane and endomembrane microdomains
    • DOI 10.1016/j.bbamcr.2005.06.004, PII S0167488905001060, Lipid Refts: From Model Membranes to Cells
    • Plowman SJ, Hancock JF. Ras signaling from plasma membrane and endomembrane microdomains. Biochim Biophys Acta. 2005;1746:274-83. (Pubitemid 41815021)
    • (2005) Biochimica et Biophysica Acta - Molecular Cell Research , vol.1746 , Issue.3 , pp. 274-283
    • Plowman, S.J.1    Hancock, J.F.2
  • 94
    • 79952429680 scopus 로고    scopus 로고
    • Dermatologic Findings in 61 Mutation-Positive Individuals with Cardio-faciocutaneous Syndrome
    • Siegel DH, McKenzie J, Frieden IJ, Rauen KA. Dermatologic Findings in 61 Mutation-Positive Individuals with Cardio-faciocutaneous Syndrome. Br J Dermatol. 2011;164:521-9.
    • (2011) Br J Dermatol , vol.164 , pp. 521-529
    • Siegel, D.H.1    McKenzie, J.2    Frieden, I.J.3    Rauen, K.A.4
  • 95
    • 77957057885 scopus 로고    scopus 로고
    • Cutaneous symptoms in a patient with cardiofaciocutaneous syndrome and increased ERK phosphorylation in skin fibroblasts
    • Terao M, Sakai N, Higashiyama S, Kotobuki Y, Tanemura A, Wataya-Kaneda M, et al. Cutaneous symptoms in a patient with cardiofaciocutaneous syndrome and increased ERK phosphorylation in skin fibroblasts. Br J Dermatol. 2010;163:881-4.
    • (2010) Br J Dermatol , vol.163 , pp. 881-884
    • Terao, M.1    Sakai, N.2    Higashiyama, S.3    Kotobuki, Y.4    Tanemura, A.5    Wataya-Kaneda, M.6
  • 96
    • 77952773024 scopus 로고    scopus 로고
    • Eccrine squamous metaplasia and periadnexal granulomas: New cutaneous histopathologic findings in cardiofaciocutaneous syndrome
    • Jeffries ML, Aleck KA, Bernert RA, Hansen RC. Eccrine squamous metaplasia and periadnexal granulomas: new cutaneous histopathologic findings in cardiofaciocutaneous syndrome. Pediatr Dermatol. 2010;27:274-8.
    • (2010) Pediatr Dermatol , vol.27 , pp. 274-278
    • Jeffries, M.L.1    Aleck, K.A.2    Bernert, R.A.3    Hansen, R.C.4
  • 97
    • 0032824599 scopus 로고    scopus 로고
    • Acute lymphoblastic leukaemia in a patient with cardiofaciocutaneous syndrome
    • Van Den Berg H, Hennekam RC. Acute lymphoblastic leukaemia in a patient with cardiofaciocutaneous syndrome. J Med Genet. 1999;36:799-800.
    • (1999) J Med Genet , vol.36 , pp. 799-800
    • Van Den Berg, H.1    Hennekam, R.C.2
  • 100
    • 0035412359 scopus 로고    scopus 로고
    • The development of lymphomas in families with autoimmune lymphoproliferative syndrome with germline Fas mutations and defective lymphocyte apoptosis
    • Straus SE, Jaffe ES, Puck JM, Dale JK, Elkon KB, Rosen-Wolff A, et al. The development of lymphomas in families with autoimmune lymphoproliferative syndrome with germline Fas mutations and defective lymphocyte apoptosis. Blood. 2001;98:194-200.
    • (2001) Blood , vol.98 , pp. 194-200
    • Straus, S.E.1    Jaffe, E.S.2    Puck, J.M.3    Dale, J.K.4    Elkon, K.B.5    Rosen-Wolff, A.6
  • 103
    • 56049088767 scopus 로고    scopus 로고
    • Clinical and molecular aspects of RAS related disorders
    • Denayer E, de Ravel T, Legius E. Clinical and molecular aspects of RAS related disorders. J Med Genet. 2008;45:695-703.
    • (2008) J Med Genet , vol.45 , pp. 695-703
    • Denayer, E.1    De Ravel, T.2    Legius, E.3
  • 104
    • 5444227865 scopus 로고    scopus 로고
    • Guilty as charged: B-RAF is a human oncogene
    • DOI 10.1016/j.ccr.2004.09.022, PII S153561080400279X
    • Garnett MJ, Marais R. Guilty as charged: B-RAF is a human oncogene. Cancer Cell. 2004;6:313-9. (Pubitemid 39361432)
    • (2004) Cancer Cell , vol.6 , Issue.4 , pp. 313-319
    • Garnett, M.J.1    Marais, R.2
  • 106
    • 33846402073 scopus 로고    scopus 로고
    • The role of Shp2 (PTPN11) in cancer
    • DOI 10.1016/j.gde.2006.12.011, PII S0959437X06002462, Genetic and Cellular mechanisms of oncogenesis
    • Mohi MG, Neel BG. The role of Shp2 (PTPN11) in cancer. Curr Opin Genet Dev. 2007;17:23-30. (Pubitemid 46131442)
    • (2007) Current Opinion in Genetics and Development , vol.17 , Issue.1 , pp. 23-30
    • Mohi, M.G.1    Neel, B.G.2
  • 107
    • 65649090993 scopus 로고    scopus 로고
    • BRAF signaling and targeted therapies in melanoma
    • Dhomen N, Marais R. BRAF signaling and targeted therapies in melanoma. Hematol Oncol Clin North Am. 2009;23:529-45.
    • (2009) Hematol Oncol Clin North Am , vol.23 , pp. 529-545
    • Dhomen, N.1    Marais, R.2
  • 109
    • 77954216113 scopus 로고    scopus 로고
    • Targeting the MAPK pathway in melanoma: Why some approaches succeed and other fail
    • Inamdar GS, Madhunapantula SV, Robertson GP. Targeting the MAPK pathway in melanoma: why some approaches succeed and other fail. Biochem Pharmacol. 2010;80:624-37.
    • (2010) Biochem Pharmacol , vol.80 , pp. 624-637
    • Inamdar, G.S.1    Madhunapantula, S.V.2    Robertson, G.P.3


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