메뉴 건너뛰기




Volumn 7, Issue 2, 2016, Pages 72-79

RASopathies: Presentation at the Genome, Interactome, and Phenome Levels

Author keywords

Gene network; Genetic diseases; Interactome; Noonan syndrome; Phenome; RASopathies

Indexed keywords

RAS PROTEIN;

EID: 84964247900     PISSN: 16618769     EISSN: 16618777     Source Type: Journal    
DOI: 10.1159/000445733     Document Type: Article
Times cited : (10)

References (20)
  • 1
    • 84872924215 scopus 로고    scopus 로고
    • Ras/MAPK syndromes and childhood hemato-oncological diseases
    • Aoki Y, Matsubara Y: Ras/MAPK syndromes and childhood hemato-oncological diseases. Int J Hematol 97: 30-36 (2013).
    • (2013) Int J Hematol , vol.97 , pp. 30-36
    • Aoki, Y.1    Matsubara, Y.2
  • 2
    • 34547146985 scopus 로고    scopus 로고
    • Network medicine -from obesity to the 'Diseasome'
    • Barabási AL: Network medicine -from obesity to the 'Diseasome'. N Engl J Med 357: 404-407 (2007).
    • (2007) N Engl J Med , vol.357 , pp. 404-407
    • Barabási, A.L.1
  • 3
    • 84873594566 scopus 로고    scopus 로고
    • Pivotal role of the musclecontraction pathway in cryptorchidism and evidence for genomic connections with cardiomyopathy pathways in RASopathies
    • Cannistraci CV, Ogorevc J, Zorc M, Ravasi T, Dovc P, Kunej T: Pivotal role of the musclecontraction pathway in cryptorchidism and evidence for genomic connections with cardiomyopathy pathways in RASopathies. BMC Med Genomics 6: 5 (2013).
    • (2013) BMC Med Genomics , vol.6 , pp. 5
    • Cannistraci, C.V.1    Ogorevc, J.2    Zorc, M.3    Ravasi, T.4    Dovc, P.5    Kunej, T.6
  • 4
    • 84890419221 scopus 로고    scopus 로고
    • Integrating human omics data to prioritize candidate genes
    • Chen Y, Wu X, Jiang R: Integrating human omics data to prioritize candidate genes. BMC Med Genomics 6: 57 (2013).
    • (2013) BMC Med Genomics , vol.6 , pp. 57
    • Chen, Y.1    Wu, X.2    Jiang, R.3
  • 6
    • 78650808443 scopus 로고    scopus 로고
    • Phenotypic variability and genetic susceptibility to genomic disorders
    • Girirajan S, Eichler EE: Phenotypic variability and genetic susceptibility to genomic disorders. Hum Mol Genet 19:R176-R187 (2010).
    • (2010) Hum Mol Genet , vol.19 , pp. R176-R187
    • Girirajan, S.1    Eichler, E.E.2
  • 8
    • 79958716830 scopus 로고    scopus 로고
    • Rasopathies: Developmental disorders that predispose to cancer and skin manifestations (in Spanish)
    • Hernández-Martín A, Torrelo A: Rasopathies: developmental disorders that predispose to cancer and skin manifestations (in Spanish). Actas Dermosifiliogr 102: 402-416 (2011).
    • (2011) Actas Dermosifiliogr , vol.102 , pp. 402-416
    • Hernández-Martín, A.1    Torrelo, A.2
  • 9
    • 84901623181 scopus 로고    scopus 로고
    • Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations
    • Kiel C, Serrano L: Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations. Mol Syst Biol 10: 727 (2014).
    • (2014) Mol Syst Biol , vol.10 , pp. 727
    • Kiel, C.1    Serrano, L.2
  • 10
    • 33845545435 scopus 로고    scopus 로고
    • The modular nature of genetic diseases
    • Oti M, Brunner HG: The modular nature of genetic diseases. Clin Genet 71: 1-11 (2007).
    • (2007) Clin Genet , vol.71 , pp. 1-11
    • Oti, M.1    Brunner, H.G.2
  • 12
    • 83555168191 scopus 로고    scopus 로고
    • Disentangling the myriad genomics of complex disorders, specifically focusing on autism, epilepsy, and schizophrenia
    • Poot M, van der Smagt JJ, Brilstra EH, Bourgeron T: Disentangling the myriad genomics of complex disorders, specifically focusing on autism, epilepsy, and schizophrenia. Cytogenet Genome Res 135: 228-240 (2011).
    • (2011) Cytogenet Genome Res , vol.135 , pp. 228-240
    • Poot, M.1    Van Der Smagt, J.J.2    Brilstra, E.H.3    Bourgeron, T.4
  • 14
    • 84941051170 scopus 로고    scopus 로고
    • String v10: Protein-protein interaction networks, integrated over the tree of life
    • (Database issue)
    • Szklarczy D, Franceschini A, Wyder S, Forslund K, Heller D, et al: String v10: protein-protein interaction networks, integrated over the tree of life. Nucleic Acids Res 43(Database issue):D447-D452 (2015).
    • (2015) Nucleic Acids Res , vol.43 , pp. D447-D452
    • Szklarczy, D.1    Franceschini, A.2    Wyder, S.3    Forslund, K.4    Heller, D.5
  • 15
    • 78650393745 scopus 로고    scopus 로고
    • Disorders of dysregulated signal traffic through the RAS-MAPK pathway: Phenotypic spectrum and molecular mechanisms
    • Tartaglia M, Gelb BD: Disorders of dysregulated signal traffic through the RAS-MAPK pathway: phenotypic spectrum and molecular mechanisms. Ann NY Acad Sci 1214: 99-121 (2010).
    • (2010) Ann NY Acad Sci , vol.1214 , pp. 99-121
    • Tartaglia, M.1    Gelb, B.D.2
  • 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 1: 2-26 (2010).
    • (2010) Mol Syndromol , vol.1 , pp. 2-26
    • Tartaglia, M.1    Zampino, G.2    Gelb, B.D.3
  • 17
    • 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 19: 230-236 (2009).
    • (2009) Curr Opin Genet Dev , vol.19 , pp. 230-236
    • Tidyman, W.E.1    Rauen, K.A.2
  • 19
    • 43249114206 scopus 로고    scopus 로고
    • Network-based global inference of human disease genes
    • Wu X, Jiang R, Zhang MQ, Li S: Network-based global inference of human disease genes. Mol Syst Biol 4: 189 (2008).
    • (2008) Mol Syst Biol , vol.4 , pp. 189
    • Wu, X.1    Jiang, R.2    Zhang, M.Q.3    Li, S.4
  • 20
    • 58049220319 scopus 로고    scopus 로고
    • Align human interactome with phenome to identify causative genes and networks underlying disease families
    • Wu X, Liu Q, Jiang R: Align human interactome with phenome to identify causative genes and networks underlying disease families. Bioinformatics 25: 98-104 (2009).
    • (2009) Bioinformatics , vol.25 , pp. 98-104
    • Wu, X.1    Liu, Q.2    Jiang, R.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.