메뉴 건너뛰기




Volumn 133, Issue 3, 2013, Pages 677-684

Copy number variation analysis in 98 individuals with PHACE syndrome

(28)  Siegel, Dawn H a   Shieh, Joseph T C b   Kwon, Eun Kyung a   Baselga, Eulalia c   Blei, Francine d   Cordisco, Maria e   Dobyns, William B f   Duffy, Kelly J a   Garzon, Maria C g   Gibbs, David L h   Grimmer, Johannes F i   Hayflick, Susan J h   Krol, Alfons L h   Kwok, Pui Yan j   Lorier, Rachel a   Matter, Andrea a   McWeeney, Shannon h   Metry, Denise k   Mitchell, Sheri l   Pope, Elena m   more..


Author keywords

[No Author keywords available]

Indexed keywords

DNA; NOTCH1 RECEPTOR; NOTCH2 RECEPTOR; SODIUM; TRANSFORMING GROWTH FACTOR BETA RECEPTOR 1; TRANSFORMING GROWTH FACTOR BETA RECEPTOR 2; VASCULOTROPIN;

EID: 84873703270     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1038/jid.2012.367     Document Type: Article
Times cited : (24)

References (38)
  • 1
    • 69349094509 scopus 로고    scopus 로고
    • FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation
    • Aldinger KA, Lehmann OJ, Hudgins L et al. (2009) FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation. Nat Genet 41: 1037-42
    • (2009) Nat Genet , vol.41 , pp. 1037-1042
    • Aldinger, K.A.1    Lehmann, O.J.2    Hudgins, L.3
  • 2
    • 33745373604 scopus 로고    scopus 로고
    • Potential role for insulin-like growth factor II and vitronectin in the endothelial-mesenchymal transition process
    • Arciniegas E, Neves YC, Carrillo LM (2006) Potential role for insulin-like growth factor II and vitronectin in the endothelial-mesenchymal transition process. Differentiation 74: 277-92
    • (2006) Differentiation , vol.74 , pp. 277-292
    • Arciniegas, E.1    Neves, Y.C.2    Carrillo, L.M.3
  • 3
    • 79960413075 scopus 로고    scopus 로고
    • Genetic dissection of EphA receptor signaling dynamics during retinotopic mapping
    • Bevins N, Lemke G, Reber M (2011) Genetic dissection of EphA receptor signaling dynamics during retinotopic mapping. J Neurosci 31: 10302-10
    • (2011) J Neurosci , vol.31 , pp. 10302-10310
    • Bevins, N.1    Lemke, G.2    Reber, M.3
  • 4
    • 80054969284 scopus 로고    scopus 로고
    • VEGFR-1 mediates endothelial differentiation and formation of blood vessels in a murine model of infantile hemangioma
    • Boscolo E, Mulliken JB, Bischoff J (2011) VEGFR-1 mediates endothelial differentiation and formation of blood vessels in a murine model of infantile hemangioma. Am J Pathol 179: 2266-77
    • (2011) Am J Pathol , vol.179 , pp. 2266-2277
    • Boscolo, E.1    Mulliken, J.B.2    Bischoff, J.3
  • 5
    • 35548984335 scopus 로고    scopus 로고
    • The relationship between the expression of HIF-1alpha and the angiogenesis in infancy hemangioma
    • Chen D, Lin XX, Li W (2005) The relationship between the expression of HIF-1alpha and the angiogenesis in infancy hemangioma. Zhonghua Zheng Xing Wai Ke Za Zhi 21: 115-8
    • (2005) Zhonghua Zheng Xing Wai Ke Za Zhi , vol.21 , pp. 115-118
    • Chen, D.1    Lin, X.X.2    Li, W.3
  • 6
    • 80052260252 scopus 로고    scopus 로고
    • A copy number variation morbidity map of developmental delay
    • Cooper GM, Coe BP, Girirajan S et al. (2011) A copy number variation morbidity map of developmental delay. Nat Genet 43: 838-46
    • (2011) Nat Genet , vol.43 , pp. 838-846
    • Cooper, G.M.1    Coe, B.P.2    Girirajan, S.3
  • 7
    • 0035853726 scopus 로고    scopus 로고
    • Isolation and characterization of EMILIN-2, a new component of the growing EMILINs family and a member of the EMI domain-containing superfamily
    • Doliana R, Bot S, Mungiguerra G et al. (2001) Isolation and characterization of EMILIN-2, a new component of the growing EMILINs family and a member of the EMI domain-containing superfamily. J Biol Chem 276: 12003-11
    • (2001) J Biol Chem , vol.276 , pp. 12003-12011
    • Doliana, R.1    Bot, S.2    Mungiguerra, G.3
  • 8
    • 33645029208 scopus 로고    scopus 로고
    • Early stroke and cerebral vasculopathy in children with facial hemangiomas and PHACE association
    • Drolet BA, Dohil M, Golomb MR et al. (2006) Early stroke and cerebral vasculopathy in children with facial hemangiomas and PHACE association. Pediatrics 117: 959-64
    • (2006) Pediatrics , vol.117 , pp. 959-964
    • Drolet, B.A.1    Dohil, M.2    Golomb, M.R.3
  • 9
    • 0029939078 scopus 로고    scopus 로고
    • PHACE syndrome. The association of posterior fossa brain malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, and eye abnormalities
    • Frieden IJ, Reese V, Cohen D (1996) PHACE syndrome. The association of posterior fossa brain malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, and eye abnormalities. Arch Dermatol 132: 307-11
    • (1996) Arch Dermatol , vol.132 , pp. 307-311
    • Frieden, I.J.1    Reese, V.2    Cohen, D.3
  • 10
    • 67349182343 scopus 로고    scopus 로고
    • Autism genome-wide copy number variation reveals ubiquitin and neuronal genes
    • Glessner JT, Wang K, Cai G et al. (2009) Autism genome-wide copy number variation reveals ubiquitin and neuronal genes. Nature 459: 569-73
    • (2009) Nature , vol.459 , pp. 569-573
    • Glessner, J.T.1    Wang, K.2    Cai, G.3
  • 11
    • 33847298464 scopus 로고    scopus 로고
    • Prospective study of infantile hemangiomas: Demographic, prenatal, and perinatal characteristics
    • Haggstrom AN, Drolet BA, Baselga E et al. (2007) Prospective study of infantile hemangiomas: demographic, prenatal, and perinatal characteristics. J Pediatr 150: 291-4
    • (2007) J Pediatr , vol.150 , pp. 291-294
    • Haggstrom, A.N.1    Drolet, B.A.2    Baselga, E.3
  • 12
    • 0021867850 scopus 로고
    • Sternal malformation/vascular dysplasia association
    • Hersh JH, Waterfill D, Rutledge J et al. (1985) Sternal malformation/vascular dysplasia association. Am J Med Genet 21: 201-2
    • (1985) Am J Med Genet , vol.21 , pp. 201-202
    • Hersh, J.H.1    Waterfill, D.2    Rutledge, J.3
  • 13
    • 77958028527 scopus 로고    scopus 로고
    • LUMBAR: Association between cutaneous infantile hemangiomas of the lower body and regional congenital anomalies
    • e1-7
    • Iacobas I, Burrows PE, Frieden IJ et al. (2010) LUMBAR: association between cutaneous infantile hemangiomas of the lower body and regional congenital anomalies. J Pediatr 157: 795-801.e1-7
    • (2010) J Pediatr , vol.157 , pp. 795-801
    • Iacobas, I.1    Burrows, P.E.2    Frieden, I.J.3
  • 14
    • 24044550703 scopus 로고    scopus 로고
    • High EphA3 expressing ophthalmic trigeminal sensory axons are sensitive to ephrin-A5-Fc: Implications for lobe specific axon guidance
    • Jayasena CS, Flood WD, Koblar SA (2005) High EphA3 expressing ophthalmic trigeminal sensory axons are sensitive to ephrin-A5-Fc: implications for lobe specific axon guidance. Neuroscience 135: 97-109
    • (2005) Neuroscience , vol.135 , pp. 97-109
    • Jayasena, C.S.1    Flood, W.D.2    Koblar, S.A.3
  • 15
    • 55549090302 scopus 로고    scopus 로고
    • Suppressed NFAT-dependent VEGFR1 expression and constitutive VEGFR2 signaling in infantile hemangioma
    • Jinnin M, Medici D, Park L et al. (2008) Suppressed NFAT-dependent VEGFR1 expression and constitutive VEGFR2 signaling in infantile hemangioma. Nat Med 14: 1236-46
    • (2008) Nat Med , vol.14 , pp. 1236-1246
    • Jinnin, M.1    Medici, D.2    Park, L.3
  • 16
    • 84858079914 scopus 로고    scopus 로고
    • PI3K/AKT/mTOR pathway in angiogenesis
    • Karar J, Maity A (2011) PI3K/AKT/mTOR pathway in angiogenesis. Front Mol Neurosci 4: 51
    • (2011) Front Mol Neurosci , vol.4 , pp. 51
    • Karar, J.1    Maity, A.2
  • 17
    • 84862129718 scopus 로고    scopus 로고
    • Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome
    • Kurek KC, Luks VL, Ayturk UM et al. (2012) Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome. Am J Hum Genet 90: 1108-15
    • (2012) Am J Hum Genet , vol.90 , pp. 1108-1115
    • Kurek, K.C.1    Luks, V.L.2    Ayturk, U.M.3
  • 18
    • 34548572843 scopus 로고    scopus 로고
    • Non-random maternal X-chromosome inactivation associated with PHACES
    • Levin JH, Kaler SG (2007) Non-random maternal X-chromosome inactivation associated with PHACES. Clin Genet 72: 345-50
    • (2007) Clin Genet , vol.72 , pp. 345-350
    • Levin, J.H.1    Kaler, S.G.2
  • 19
    • 77956877419 scopus 로고    scopus 로고
    • Liprin-alpha4 is a new hypoxiainducible target gene required for maintenance of cell-cell contacts
    • Mattauch S, Sachs M, Behrens J (2010) Liprin-alpha4 is a new hypoxiainducible target gene required for maintenance of cell-cell contacts. Exp Cell Res 316: 2883-92
    • (2010) Exp Cell Res , vol.316 , pp. 2883-2892
    • Mattauch, S.1    Sachs, M.2    Behrens, J.3
  • 20
    • 70350497705 scopus 로고    scopus 로고
    • Consensus statement on diagnostic criteria for PHACE syndrome
    • Metry D, Heyer G, Hess C et al. (2009) Consensus statement on diagnostic criteria for PHACE syndrome. Pediatrics 124: 1447-56
    • (2009) Pediatrics , vol.124 , pp. 1447-1456
    • Metry, D.1    Heyer, G.2    Hess, C.3
  • 21
    • 33646115451 scopus 로고    scopus 로고
    • A prospective study of PHACE syndrome in infantile hemangiomas: Demographic features, clinical findings, and complications
    • Metry DW, Haggstrom AN, Drolet BA et al. (2006) A prospective study of PHACE syndrome in infantile hemangiomas: demographic features, clinical findings, and complications. Am J Med Genet A 140: 975-86
    • (2006) Am J Med Genet A , vol.140 , pp. 975-986
    • Metry, D.W.1    Haggstrom, A.N.2    Drolet, B.A.3
  • 22
    • 37349011144 scopus 로고    scopus 로고
    • A comparison of disease severity among affected male versus female patients with PHACE syndrome
    • Metry DW, Siegel DH, Cordisco MR et al. (2008) A comparison of disease severity among affected male versus female patients with PHACE syndrome. J Am Acad Dermatol 58: 81-7
    • (2008) J Am Acad Dermatol , vol.58 , pp. 81-87
    • Metry, D.W.1    Siegel, D.H.2    Cordisco, M.R.3
  • 23
    • 84856219440 scopus 로고    scopus 로고
    • Megalencephaly-capillary malformation (MCAP) and megalencephaly- polydactyly-polymicrogyriahydrocephalus (MPPH) syndromes: Two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis
    • Mirzaa GM, Conway RL, Gripp KW et al. (2012) Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyriahydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis. Am J Med Genet A 158A: 269-91
    • (2012) Am J Med Genet A , vol.158 A , pp. 269-291
    • Mirzaa, G.M.1    Conway, R.L.2    Gripp, K.W.3
  • 24
    • 0032968502 scopus 로고    scopus 로고
    • An early developmental role for eph-ephrin interaction during vertebrate gastrulation
    • Oates AC, Lackmann M, Power MA et al. (1999) An early developmental role for eph-ephrin interaction during vertebrate gastrulation. Mech Dev 83: 77-94
    • (1999) Mech Dev , vol.83 , pp. 77-94
    • Oates, A.C.1    Lackmann, M.2    Power, M.A.3
  • 25
    • 0018197648 scopus 로고
    • Vascular and nonvascular intracranial malformation associated with external capillary hemangiomas
    • Pascual-Castroviejo I (1978a) Vascular and nonvascular intracranial malformation associated with external capillary hemangiomas. Neuroradiology 16: 82-4
    • (1978) Neuroradiology , vol.16 , pp. 82-84
    • Pascual-Castroviejo, I.1
  • 26
    • 0018197635 scopus 로고
    • Vascular changes in cerebellar developmental defects
    • Pascual-Castroviejo I (1978b) Vascular changes in cerebellar developmental defects. Neuroradiology 16: 58-60
    • (1978) Neuroradiology , vol.16 , pp. 58-60
    • Pascual-Castroviejo, I.1
  • 27
    • 77954657070 scopus 로고    scopus 로고
    • Functional impact of global rare copy number variation in autism spectrum disorders
    • Pinto D, Pagnamenta AT, Klei L et al. (2010) Functional impact of global rare copy number variation in autism spectrum disorders. Nature 466: 368-72
    • (2010) Nature , vol.466 , pp. 368-372
    • Pinto, D.1    Pagnamenta, A.T.2    Klei, L.3
  • 28
    • 79751486707 scopus 로고    scopus 로고
    • Complex aortic coarctation and PHACE syndrome
    • Prada F, Mortera C, Bartrons J et al. (2010) Complex aortic coarctation and PHACE syndrome. Rev Esp Cardiol 63: 1367-70
    • (2010) Rev Esp Cardiol , vol.63 , pp. 1367-1370
    • Prada, F.1    Mortera, C.2    Bartrons, J.3
  • 29
    • 78649764506 scopus 로고    scopus 로고
    • Rare copy number variants disrupt genes regulating vascular smooth muscle cell adhesion and contractility in sporadic thoracic aortic aneurysms and dissections
    • Prakash SK, LeMaire SA, Guo DC et al. (2010) Rare copy number variants disrupt genes regulating vascular smooth muscle cell adhesion and contractility in sporadic thoracic aortic aneurysms and dissections. Am J Hum Genet 87: 743-56
    • (2010) Am J Hum Genet , vol.87 , pp. 743-756
    • Prakash, S.K.1    Lemaire, S.A.2    Guo, D.C.3
  • 30
    • 84864400015 scopus 로고    scopus 로고
    • De novo germline and postzygotic mutations in AKT3. PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes
    • Riviere JB, Mirzaa GM, O'Roak BJ et al. (2012) De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. Nat Genet 44: 934-40
    • (2012) Nat Genet , vol.44 , pp. 934-940
    • Riviere, J.B.1    Mirzaa, G.M.2    O'Roak, B.J.3
  • 31
    • 79955754383 scopus 로고    scopus 로고
    • EMILIN2 (elastin microfibril interface located protein), potential modifier of thrombosis
    • Sa Q, Hoover-Plow JL (2011) EMILIN2 (elastin microfibril interface located protein), potential modifier of thrombosis. Thromb J 9: 9
    • (2011) Thromb J , vol.9 , pp. 9
    • Sa, Q.1    Hoover-Plow, J.L.2
  • 32
    • 84863405033 scopus 로고    scopus 로고
    • Stroke in children with posterior fossa brain malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, and eye abnormalities (PHACE) syndrome: A systematic review of the literature
    • Siegel DH, Tefft KA, Kelly T et al. (2012) Stroke in children with posterior fossa brain malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, and eye abnormalities (PHACE) syndrome: a systematic review of the literature. Stroke 43: 1672-4
    • (2012) Stroke , vol.43 , pp. 1672-1674
    • Siegel, D.H.1    Tefft, K.A.2    Kelly, T.3
  • 33
    • 79951561937 scopus 로고    scopus 로고
    • A myomesin mutation associated with hypertrophic cardiomyopathy deteriorates dimerisation properties
    • Siegert R, Perrot A, Keller S et al. (2011) A myomesin mutation associated with hypertrophic cardiomyopathy deteriorates dimerisation properties. Biochem Biophys Res Commun 405: 473-9
    • (2011) Biochem Biophys Res Commun , vol.405 , pp. 473-479
    • Siegert, R.1    Perrot, A.2    Keller, S.3
  • 34
    • 84859419056 scopus 로고    scopus 로고
    • Role of copy number variants in structural birth defects
    • Southard AE, Edelmann LJ, Gelb BD (2012) Role of copy number variants in structural birth defects. Pediatrics 129: 755-63
    • (2012) Pediatrics , vol.129 , pp. 755-763
    • Southard, A.E.1    Edelmann, L.J.2    Gelb, B.D.3
  • 35
    • 33846217879 scopus 로고    scopus 로고
    • A critical role for the EphA3 receptor tyrosine kinase in heart development
    • Stephen LJ, Fawkes AL, Verhoeve A et al. (2007) A critical role for the EphA3 receptor tyrosine kinase in heart development. Dev Biol 302: 66-79
    • (2007) Dev Biol , vol.302 , pp. 66-79
    • Stephen, L.J.1    Fawkes, A.L.2    Verhoeve, A.3
  • 36
    • 82855167148 scopus 로고    scopus 로고
    • Engrailed homeoprotein recruits the adenosine A1 receptor to potentiate ephrin A5 function in retinal growth cones
    • Stettler O, Joshi RL, Wizenmann A et al. (2012) Engrailed homeoprotein recruits the adenosine A1 receptor to potentiate ephrin A5 function in retinal growth cones. Development 139: 215-24
    • (2012) Development , vol.139 , pp. 215-224
    • Stettler, O.1    Joshi, R.L.2    Wizenmann, A.3
  • 37
    • 0032895367 scopus 로고    scopus 로고
    • Genetic mapping of a novel familial form of infantile hemangioma
    • Walter JW, Blei F, Anderson JL et al. (1999) Genetic mapping of a novel familial form of infantile hemangioma. Am J Med Genet 82: 77-83
    • (1999) Am J Med Genet , vol.82 , pp. 77-83
    • Walter, J.W.1    Blei, F.2    Anderson, J.L.3
  • 38
    • 0041672301 scopus 로고    scopus 로고
    • The oncogene phosphatidylinositol 3'-kinase catalytic subunit alpha promotes angiogenesis via vascular endothelial growth factor in ovarian carcinoma
    • Zhang L, Yang N, Katsaros D et al. (2003) The oncogene phosphatidylinositol 3'-kinase catalytic subunit alpha promotes angiogenesis via vascular endothelial growth factor in ovarian carcinoma. Cancer Res 63: 4225-31
    • (2003) Cancer Res , vol.63 , pp. 4225-4231
    • Zhang, L.1    Yang, N.2    Katsaros, D.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.