메뉴 건너뛰기




Volumn 171, Issue 2, 2014, Pages 253-262

Genome-wide screening of copy number variants in children born small for gestational age reveals several candidate genes involved in growth pathways

Author keywords

[No Author keywords available]

Indexed keywords

DNA; HUMAN GROWTH HORMONE; MICRORNA;

EID: 84905237250     PISSN: 08044643     EISSN: 1479683X     Source Type: Journal    
DOI: 10.1530/EJE-14-0232     Document Type: Article
Times cited : (40)

References (49)
  • 1
    • 0037974806 scopus 로고    scopus 로고
    • International Small for Gestational Age Advisory Board consensus development conference statement: Management of short children born small for gestational age, April 24-October 1, 2001
    • doi:10.1542/peds.111.6.1253
    • Lee PA, Chernausek SD, Hokken-Koelega AC & Czernichow P. International Small for Gestational Age Advisory Board consensus development conference statement: management of short children born small for gestational age, April 24-October 1, 2001. Pediatrics 2003 111 1253-1261. (doi:10.1542/peds.111.6.1253)
    • (2003) Pediatrics , vol.111 , pp. 1253-1261
    • Lee, P.A.1    Chernausek, S.D.2    Hokken-Koelega, A.C.3    Czernichow, P.4
  • 4
    • 34347361618 scopus 로고    scopus 로고
    • Copy number variations and clinical cytogenetic diagnosis of constitutional disorders
    • doi:10.1038/ng2092
    • Lee C, Iafrate AJ & Brothman AR. Copy number variations and clinical cytogenetic diagnosis of constitutional disorders. Nature Genetics 2007 39 S48-S54. (doi:10.1038/ng2092)
    • (2007) Nature Genetics , vol.39
    • Lee, C.1    Iafrate, A.J.2    Brothman, A.R.3
  • 8
    • 77954944963 scopus 로고    scopus 로고
    • Screening chromosomal aberrations by array comparative genomic hybridization in 80 patients with congenital hypothyroidism and thyroid dysgenesis
    • doi:10.1210/jc.2009-2195
    • Thorwarth A, Mueller I, Biebermann H, Ropers HH, Grueters A, Krude H & Ullmann R. Screening chromosomal aberrations by array comparative genomic hybridization in 80 patients with congenital hypothyroidism and thyroid dysgenesis. Journal of Clinical Endocrinology and Metabolism 2010 95 3446-3452. (doi:10.1210/jc.2009-2195)
    • (2010) Journal of Clinical Endocrinology and Metabolism , vol.95 , pp. 3446-3452
    • Thorwarth, A.1    Mueller, I.2    Biebermann, H.3    Ropers, H.H.4    Grueters, A.5    Krude, H.6    Ullmann, R.7
  • 9
    • 77956915108 scopus 로고    scopus 로고
    • Array-CGH analysis in patients with syndromic and non-syndromic XY gonadal dysgenesis: Evaluation of array CGH as diagnostic tool and search for new candidate loci
    • doi:10.1093/humrep/deq167
    • Ledig S, Hiort O, Scherer G, Hoffmann M, Wolff G, Morlot S, Kuechler A & Wieacker P. Array-CGH analysis in patients with syndromic and non-syndromic XY gonadal dysgenesis: evaluation of array CGH as diagnostic tool and search for new candidate loci. Human Reproduction 2010 25 2637-2646. (doi:10.1093/humrep/deq167)
    • (2010) Human Reproduction , vol.25 , pp. 2637-2646
    • Ledig, S.1    Hiort, O.2    Scherer, G.3    Hoffmann, M.4    Wolff, G.5    Morlot, S.6    Kuechler, A.7    Wieacker, P.8
  • 14
    • 84883197797 scopus 로고    scopus 로고
    • Comparison of the clinical scoring systems in Silver-Russell syndrome and development of modified diagnostic criteria to guide molecular genetic testing
    • doi:10.1136/jmedgenet-2013-101693
    • Dias RP, Nightingale P, Hardy C, Kirby G, Tee L, Price S, Macdonald F, Barrett TG & Maher ER. Comparison of the clinical scoring systems in Silver-Russell syndrome and development of modified diagnostic criteria to guide molecular genetic testing. Journal of Medical Genetics 2013 50 635-639. (doi:10.1136/jmedgenet-2013-101693)
    • (2013) Journal of Medical Genetics , vol.50 , pp. 635-639
    • Dias, R.P.1    Nightingale, P.2    Hardy, C.3    Kirby, G.4    Tee, L.5    Price, S.6    Macdonald, F.7    Barrett, T.G.8    Maher, E.R.9
  • 16
    • 84875141087 scopus 로고    scopus 로고
    • Analysis of the insulin-like growth factor 1 receptor gene in children born small for gestational age: In vitro characterization of a novel mutation (p.Arg511Trp)
    • doi:10.1111/cen.12048
    • Leal AC, Montenegro LR, Saito RF, Ribeiro TC, Coutinho DC, Mendonca BB, Arnhold IJ & Jorge AA. Analysis of the insulin-like growth factor 1 receptor gene in children born small for gestational age: in vitro characterization of a novel mutation (p.Arg511Trp). Clinical Endocrinology 2012 78 558-563. (doi:10.1111/cen.12048)
    • (2012) Clinical Endocrinology , vol.78 , pp. 558-563
    • Leal, A.C.1    Montenegro, L.R.2    Saito, R.F.3    Ribeiro, T.C.4    Coutinho, D.C.5    Mendonca, B.B.6    Arnhold, I.J.7    Jorge, A.A.8
  • 17
    • 71949124013 scopus 로고    scopus 로고
    • An experimental loop design for the detection of constitutional chromosomal aberrations by array CGH
    • doi:10.1186/1471-2105-10-380
    • Allemeersch J, Van Vooren S, Hannes F, De Moor B, Vermeesch JR & Moreau Y. An experimental loop design for the detection of constitutional chromosomal aberrations by array CGH. BMC Bioinformatics 2009 10 380. (doi:10.1186/1471-2105-10-380)
    • (2009) BMC Bioinformatics , vol.10 , pp. 380
    • Allemeersch, J.1    Van Vooren, S.2    Hannes, F.3    De Moor, B.4    Vermeesch, J.R.5    Moreau, Y.6
  • 20
    • 84863987708 scopus 로고    scopus 로고
    • Computational tools for prioritizing candidate genes: Boosting disease gene discovery
    • doi:10.1038/nrg3253
    • Moreau Y & Tranchevent LC. Computational tools for prioritizing candidate genes: boosting disease gene discovery. Nature Reviews. Genetics 2012 13 523-536. (doi:10.1038/nrg3253)
    • (2012) Nature Reviews. Genetics , vol.13 , pp. 523-536
    • Moreau, Y.1    Tranchevent, L.C.2
  • 22
    • 78651293534 scopus 로고    scopus 로고
    • miRBase: Integrating microRNA annotation and deep-sequencing data
    • doi:10.1093/nar/gkq1027
    • Kozomara A & Griffiths-Jones S. miRBase: integrating microRNA annotation and deep-sequencing data. Nucleic Acids Research 2011 39 D152-D157. (doi:10.1093/nar/gkq1027)
    • (2011) Nucleic Acids Research , vol.39
    • Kozomara, A.1    Griffiths-Jones, S.2
  • 24
    • 84859727275 scopus 로고    scopus 로고
    • The Mouse Genome Database (MGD): Comprehensive resource for genetics and genomics of the laboratory mouse
    • doi:10.1093/nar/gkr974
    • Eppig JT, Blake JA, Bult CJ, Kadin JA & Richardson JE. The Mouse Genome Database (MGD): comprehensive resource for genetics and genomics of the laboratory mouse. Nucleic Acids Research 2012 40 D881-D886. (doi:10.1093/nar/ gkr974)
    • (2012) Nucleic Acids Research , vol.40
    • Eppig, J.T.1    Blake, J.A.2    Bult, C.J.3    Kadin, J.A.4    Richardson, J.E.5
  • 25
    • 57549100209 scopus 로고    scopus 로고
    • GeneDistiller - Distilling candidate genes from linkage intervals
    • doi:10.1371/journal.pone.0003874
    • Seelow D, Schwarz JM & Schuelke M. GeneDistiller - distilling candidate genes from linkage intervals. PLoS ONE 2008 3 e3874. (doi:10.1371/journal.pone.0003874)
    • (2008) PLoS ONE , vol.3
    • Seelow, D.1    Schwarz, J.M.2    Schuelke, M.3
  • 26
    • 44149115417 scopus 로고    scopus 로고
    • Velo-cardio-facial syndrome: 30 years of study
    • doi:10.1002/ddrr.2
    • Shprintzen RJ. Velo-cardio-facial syndrome: 30 years of study. Developmental Disabilities Research Reviews 2008 14 3-10. (doi:10.1002/ddrr.2)
    • (2008) Developmental Disabilities Research Reviews , vol.14 , pp. 3-10
    • Shprintzen, R.J.1
  • 29
    • 80755187820 scopus 로고    scopus 로고
    • Human copy number variation and complex genetic disease
    • doi:10.1146/annurev-genet-102209-163544
    • Girirajan S, Campbell CD & Eichler EE. Human copy number variation and complex genetic disease. Annual Review of Genetics 2011 45 203-226. (doi:10.1146/annurev-genet-102209-163544)
    • (2011) Annual Review of Genetics , vol.45 , pp. 203-226
    • Girirajan, S.1    Campbell, C.D.2    Eichler, E.E.3
  • 32
    • 0034695550 scopus 로고    scopus 로고
    • Inhibition of the c-Jun N-terminal kinase/AP-1 and NF-kB pathways by PICOT, a novel protein kinase C-interacting protein with a thioredoxin homology domain
    • doi:10.1074/jbc.275.3.1902
    • Witte S, Villalba M, Bi K, Liu Y, Isakov N & Altman A. Inhibition of the c-Jun N-terminal kinase/AP-1 and NF-kB pathways by PICOT, a novel protein kinase C-interacting protein with a thioredoxin homology domain. Journal of Biological Chemistry 2000 275 1902-1909. (doi:10.1074/jbc.275.3.1902)
    • (2000) Journal of Biological Chemistry , vol.275 , pp. 1902-1909
    • Witte, S.1    Villalba, M.2    Bi, K.3    Liu, Y.4    Isakov, N.5    Altman, A.6
  • 33
    • 79959944018 scopus 로고    scopus 로고
    • A mammalian monothiol glutaredoxin, Grx3, is critical for cell cycle progression during embryogenesis
    • doi:10.1111/j.1742-4658.2011.08178.x
    • Cheng NH, Zhang W, Chen WQ, Jin J, Cui X, Butte NF, Chan L & Hirschi KD. A mammalian monothiol glutaredoxin, Grx3, is critical for cell cycle progression during embryogenesis. FEBS Journal 2011 278 2525-2539. (doi:10.1111/j.1742-4658.2011.08178.x)
    • (2011) FEBS Journal , vol.278 , pp. 2525-2539
    • Cheng, N.H.1    Zhang, W.2    Chen, W.Q.3    Jin, J.4    Cui, X.5    Butte, N.F.6    Chan, L.7    Hirschi, K.D.8
  • 34
    • 0033624921 scopus 로고    scopus 로고
    • Role of Gab1 in heart, placenta, and skin development and growth factor- and cytokine-induced extracellular signal-regulated kinase mitogen-activated protein kinase activation
    • doi:10.1128/MCB.20.10.3695-3704.2000
    • Itoh M, Yoshida Y, Nishida K, NarimatsuM, HibiM& Hirano T. Role of Gab1 in heart, placenta, and skin development and growth factor- and cytokine-induced extracellular signal-regulated kinase mitogen-activated protein kinase activation. Molecular and Cellular Biology 2000 20 3695-3704. (doi:10.1128/MCB.20.10.3695-3704.2000)
    • (2000) Molecular and Cellular Biology , vol.20 , pp. 3695-3704
    • Itoh, M.1    Yoshida, Y.2    Nishida, K.3    Narimatsu, M.4    Hibi, M.5    Hirano, T.6
  • 36
    • 70449657762 scopus 로고    scopus 로고
    • IGF2 mRNA-binding protein 2: Biological function and putative role in type 2 diabetes
    • doi:10.1677/JME-09-0016
    • Christiansen J, Kolte AM, Hansen T & Nielsen FC. IGF2 mRNA-binding protein 2: biological function and putative role in type 2 diabetes. Journal of Molecular Endocrinology 2009 43 187-195. (doi:10.1677/JME-09-0016)
    • (2009) Journal of Molecular Endocrinology , vol.43 , pp. 187-195
    • Christiansen, J.1    Kolte, A.M.2    Hansen, T.3    Nielsen, F.C.4
  • 38
    • 84864122509 scopus 로고    scopus 로고
    • Structural determinants of protein kinase CK2 regulation by autoinhibitory polymerization
    • doi:10.1021/cb300054n
    • Lolli G, Pinna LA & Battistutta R. Structural determinants of protein kinase CK2 regulation by autoinhibitory polymerization. ACS Chemical Biology 2012 7 1158-1163. (doi:10.1021/cb300054n)
    • (2012) ACS Chemical Biology , vol.7 , pp. 1158-1163
    • Lolli, G.1    Pinna, L.A.2    Battistutta, R.3
  • 41
    • 84856803144 scopus 로고    scopus 로고
    • Histone H1 recruitment by CHD8 is essential for suppression of the Wnt-b-catenin signaling pathway
    • doi:10.1128/MCB.06409-11
    • Nishiyama M, Skoultchi AI & Nakayama KI. Histone H1 recruitment by CHD8 is essential for suppression of the Wnt-b-catenin signaling pathway. Molecular and Cellular Biology 2012 32 501-512. (doi:10.1128/MCB.06409-11)
    • (2012) Molecular and Cellular Biology , vol.32 , pp. 501-512
    • Nishiyama, M.1    Skoultchi, A.I.2    Nakayama, K.I.3
  • 42
    • 84878260995 scopus 로고    scopus 로고
    • Genome-wide association study in Han Chinese identifies three novel loci for human height
    • doi:10.1007/s00439-013-1280-9
    • Hao Y, Liu X, Lu X, Yang X, Wang L, Chen S, Li H, Li J, Cao J, Chen J et al. Genome-wide association study in Han Chinese identifies three novel loci for human height. Human Genetics 2013 132 681-689. (doi:10.1007/s00439-013-1280-9)
    • (2013) Human Genetics , vol.132 , pp. 681-689
    • Hao, Y.1    Liu, X.2    Lu, X.3    Yang, X.4    Wang, L.5    Chen, S.6    Li, H.7    Li, J.8    Cao, J.9    Chen, J.10
  • 44
    • 63749127459 scopus 로고    scopus 로고
    • Xq13.2q21.1 duplication encompassing the ATRX gene in a man with mental retardation, minor facial and genital anomalies, short stature and broad thorax
    • doi:10.1002/ajmg.a.32742
    • Lugtenberg D, de Brouwer AP, Oudakker AR, Pfundt R, Hamel BC, van Bokhoven H & Bongers EM. Xq13.2q21.1 duplication encompassing the ATRX gene in a man with mental retardation, minor facial and genital anomalies, short stature and broad thorax. American Journal of Medical Genetics. Part A 2009 149A 760-766. (doi:10.1002/ajmg.a.32742)
    • (2009) American Journal of Medical Genetics. Part A , vol.149 A , pp. 760-766
    • Lugtenberg, D.1    De Brouwer, A.P.2    Oudakker, A.R.3    Pfundt, R.4    Hamel, B.C.5    Van Bokhoven, H.6    Bongers, E.M.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.