메뉴 건너뛰기




Volumn 13, Issue , 2012, Pages

IGF2/H19 hypomethylation in a patient with very low birthweight, preocious pubarche and insulin resistance

Author keywords

Insulin like growth factor 2; Insulin resistance; Intrauterine growth restriction; Short stature

Indexed keywords

GLUCOSE; SOMATOMEDIN B;

EID: 84861569839     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-13-42     Document Type: Article
Times cited : (23)

References (32)
  • 1
    • 0037389185 scopus 로고    scopus 로고
    • Beckwith-Wiedemann syndrome demonstrates a role for epigenetic control of normal development
    • 10.1093/hmg/ddg067, 12668598
    • Weksberg R, et al. Beckwith-Wiedemann syndrome demonstrates a role for epigenetic control of normal development. Hum Mol Genet 2003, 12(1):R61-R68. 10.1093/hmg/ddg067, 12668598.
    • (2003) Hum Mol Genet , vol.12 , Issue.1
    • Weksberg, R.1
  • 2
    • 70450162112 scopus 로고    scopus 로고
    • Multilocus methylation analysis in a large cohort of 11p15-related foetal growth disorders (Russell Silver and Beckwith Wiedemann syndromes) reveals simultaneous loss of methylation at paternal and maternal imprinted loci
    • 10.1093/hmg/ddp435, 19755383
    • Azzi S, et al. Multilocus methylation analysis in a large cohort of 11p15-related foetal growth disorders (Russell Silver and Beckwith Wiedemann syndromes) reveals simultaneous loss of methylation at paternal and maternal imprinted loci. Hum Mol Genet 2009, 18(24):4724-4733. 10.1093/hmg/ddp435, 19755383.
    • (2009) Hum Mol Genet , vol.18 , Issue.24 , pp. 4724-4733
    • Azzi, S.1
  • 3
    • 34547764390 scopus 로고    scopus 로고
    • 11p15 imprinting center region 1 loss of methylation is a common and specific cause of typical Russell-Silver syndrome: clinical scoring system and epigenetic-phenotypic correlations
    • 10.1210/jc.2007-0354, 17504900
    • Netchine I, et al. 11p15 imprinting center region 1 loss of methylation is a common and specific cause of typical Russell-Silver syndrome: clinical scoring system and epigenetic-phenotypic correlations. J Clin Endocrinol Metab 2007, 92(8):3148-3154. 10.1210/jc.2007-0354, 17504900.
    • (2007) J Clin Endocrinol Metab , vol.92 , Issue.8 , pp. 3148-3154
    • Netchine, I.1
  • 4
    • 0037436509 scopus 로고    scopus 로고
    • Loss of IGF2 imprinting: a potential marker of colorectal cancer risk
    • 10.1126/science.1080902, 12637750
    • Cui H, et al. Loss of IGF2 imprinting: a potential marker of colorectal cancer risk. Science 2003, 299(5613):1753-1755. 10.1126/science.1080902, 12637750.
    • (2003) Science , vol.299 , Issue.5613 , pp. 1753-1755
    • Cui, H.1
  • 5
    • 29244447111 scopus 로고    scopus 로고
    • Loss of imprinting of IGF2: a common epigenetic modifier of intestinal tumor risk
    • 10.1158/0008-5472.CAN-05-2959, 16357124
    • Kaneda A, Feinberg AP. Loss of imprinting of IGF2: a common epigenetic modifier of intestinal tumor risk. Cancer Res 2005, 65(24):11236-11240. 10.1158/0008-5472.CAN-05-2959, 16357124.
    • (2005) Cancer Res , vol.65 , Issue.24 , pp. 11236-11240
    • Kaneda, A.1    Feinberg, A.P.2
  • 6
    • 3543018516 scopus 로고    scopus 로고
    • Interaction between differentially methylated regions partitions the imprinted genes Igf2 and H19 into parent-specific chromatin loops
    • 10.1038/ng1402, 15273689
    • Murrell A, Heeson S, Reik W. Interaction between differentially methylated regions partitions the imprinted genes Igf2 and H19 into parent-specific chromatin loops. Nature Genetics 2004, 36(8):889-893. 10.1038/ng1402, 15273689.
    • (2004) Nature Genetics , vol.36 , Issue.8 , pp. 889-893
    • Murrell, A.1    Heeson, S.2    Reik, W.3
  • 7
    • 49649112211 scopus 로고    scopus 로고
    • Somatically acquired hypomethylation of IGF2 in breast and colorectal cancer
    • 10.1093/hmg/ddn163, 2515372, 18541649
    • Ito Y, et al. Somatically acquired hypomethylation of IGF2 in breast and colorectal cancer. Hum Mol Genet 2008, 17(17):2633-2643. 10.1093/hmg/ddn163, 2515372, 18541649.
    • (2008) Hum Mol Genet , vol.17 , Issue.17 , pp. 2633-2643
    • Ito, Y.1
  • 8
    • 48949115579 scopus 로고    scopus 로고
    • Altered gene expression and methylation of the human chromosome 11 imprinted region in small for gestational age (SGA) placentae
    • 10.1016/j.ydbio.2008.04.025, 18550048
    • Guo L, et al. Altered gene expression and methylation of the human chromosome 11 imprinted region in small for gestational age (SGA) placentae. Dev Biol 2008, 320(1):79-91. 10.1016/j.ydbio.2008.04.025, 18550048.
    • (2008) Dev Biol , vol.320 , Issue.1 , pp. 79-91
    • Guo, L.1
  • 9
    • 25144454048 scopus 로고    scopus 로고
    • Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome
    • 10.1038/ng1629, 16086014
    • Gicquel C, et al. Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome. Nature Genetics 2005, 37(9):1003-1007. 10.1038/ng1629, 16086014.
    • (2005) Nature Genetics , vol.37 , Issue.9 , pp. 1003-1007
    • Gicquel, C.1
  • 10
    • 3543010196 scopus 로고    scopus 로고
    • Antagonism between DNA hypermethylation and enhancer-blocking activity at the H19 DMD is uncovered by CpG mutations
    • 10.1038/ng1399, 15273688
    • Engel N, et al. Antagonism between DNA hypermethylation and enhancer-blocking activity at the H19 DMD is uncovered by CpG mutations. Nat Genet 2004, 36(8):883-888. 10.1038/ng1399, 15273688.
    • (2004) Nat Genet , vol.36 , Issue.8 , pp. 883-888
    • Engel, N.1
  • 11
    • 77949769087 scopus 로고    scopus 로고
    • Epigenetic signatures of Silver-Russell syndrome
    • 10.1136/jmg.2009.071316, 20305090
    • Abu-Amero S, et al. Epigenetic signatures of Silver-Russell syndrome. J Med Genet 2010, 47(3):150-154. 10.1136/jmg.2009.071316, 20305090.
    • (2010) J Med Genet , vol.47 , Issue.3 , pp. 150-154
    • Abu-Amero, S.1
  • 12
    • 46649097230 scopus 로고    scopus 로고
    • Distinct methylation changes at the IGF2-H19 locus in congenital growth disorders and cancer
    • 10.1371/journal.pone.0001849, 2268001, 18365005
    • Murrell A, et al. Distinct methylation changes at the IGF2-H19 locus in congenital growth disorders and cancer. PLoS One 2008, 3(3):e1849. 10.1371/journal.pone.0001849, 2268001, 18365005.
    • (2008) PLoS One , vol.3 , Issue.3
    • Murrell, A.1
  • 13
    • 62149105139 scopus 로고    scopus 로고
    • Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes
    • Bartholdi D, et al. Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes. J Med Genet 2009, 46(3):192-197.
    • (2009) J Med Genet , vol.46 , Issue.3 , pp. 192-197
    • Bartholdi, D.1
  • 14
    • 0025320906 scopus 로고
    • A growth-deficiency phenotype in heterozygous mice carrying an insulin-like growth factor II gene disrupted by targeting
    • 10.1038/345078a0, 2330056
    • DeChiara TM, Efstratiadis A, Robertson EJ. A growth-deficiency phenotype in heterozygous mice carrying an insulin-like growth factor II gene disrupted by targeting. Nature 1990, 345(6270):78-80. 10.1038/345078a0, 2330056.
    • (1990) Nature , vol.345 , Issue.6270 , pp. 78-80
    • DeChiara, T.M.1    Efstratiadis, A.2    Robertson, E.J.3
  • 15
    • 22544461679 scopus 로고    scopus 로고
    • The role of the growth hormone/insulin-like growth factor axis in tumor growth and progression: Lessons from animal models
    • Yakar S, Leroith D, Brodt P. The role of the growth hormone/insulin-like growth factor axis in tumor growth and progression: Lessons from animal models. Cytokine Growth Factor Rev 2005, 16(4-5):407-420.
    • (2005) Cytokine Growth Factor Rev , vol.16 , Issue.4-5 , pp. 407-420
    • Yakar, S.1    Leroith, D.2    Brodt, P.3
  • 16
    • 0036765999 scopus 로고    scopus 로고
    • Duplications of chromosome 11p15 of maternal origin result in a phenotype that includes growth retardation
    • 10.1007/s00439-002-0787-2, 12215843
    • Fisher A, et al. Duplications of chromosome 11p15 of maternal origin result in a phenotype that includes growth retardation. Hum Genet 2002, 111:290-296. 10.1007/s00439-002-0787-2, 12215843.
    • (2002) Hum Genet , vol.111 , pp. 290-296
    • Fisher, A.1
  • 17
    • 30644459349 scopus 로고    scopus 로고
    • Is maternal duplication of 11p15 associated with Silver-Russell syndrome?
    • 10.1136/jmg.2004.028936, 1736048, 15863658
    • Eggermann T, et al. Is maternal duplication of 11p15 associated with Silver-Russell syndrome?. J Med Genet 2005, 42(5):e26. 10.1136/jmg.2004.028936, 1736048, 15863658.
    • (2005) J Med Genet , vol.42 , Issue.5
    • Eggermann, T.1
  • 18
    • 57349177198 scopus 로고    scopus 로고
    • Severe intrauterine growth retardation and atypical diabetes associated with a translocation breakpoint disrupting regulation of the insulin-like growth factor 2 gene
    • 10.1210/jc.2008-0819, 18728168
    • Murphy R, et al. Severe intrauterine growth retardation and atypical diabetes associated with a translocation breakpoint disrupting regulation of the insulin-like growth factor 2 gene. J Clin Endocrinol Metab 2008, 93(11):4373-4380. 10.1210/jc.2008-0819, 18728168.
    • (2008) J Clin Endocrinol Metab , vol.93 , Issue.11 , pp. 4373-4380
    • Murphy, R.1
  • 19
    • 62449188221 scopus 로고    scopus 로고
    • Clinical spectrum of premature pubarche: links to metabolic syndrome and ovarian hyperandrogenism
    • 10.1007/s11154-008-9096-y, 18726694
    • Ibanez L, et al. Clinical spectrum of premature pubarche: links to metabolic syndrome and ovarian hyperandrogenism. Rev Endocr Metab Disord 2009, 10(1):63-76. 10.1007/s11154-008-9096-y, 18726694.
    • (2009) Rev Endocr Metab Disord , vol.10 , Issue.1 , pp. 63-76
    • Ibanez, L.1
  • 20
    • 4544323736 scopus 로고    scopus 로고
    • Insulin sensitization for girls with precocious pubarche and with risk for polycystic ovary syndrome: effects of prepubertal initiation and postpubertal discontinuation of metformin treatment
    • 10.1210/jc.2004-0463, 15356029
    • Ibanez L, et al. Insulin sensitization for girls with precocious pubarche and with risk for polycystic ovary syndrome: effects of prepubertal initiation and postpubertal discontinuation of metformin treatment. J Clin Endocrinol Metab 2004, 89(9):4331-4337. 10.1210/jc.2004-0463, 15356029.
    • (2004) J Clin Endocrinol Metab , vol.89 , Issue.9 , pp. 4331-4337
    • Ibanez, L.1
  • 21
    • 33645111449 scopus 로고    scopus 로고
    • The Exeter Family Study of Childhood Health (EFSOCH): study protocol and methodology
    • 10.1111/j.1365-3016.2006.00701.x, 16466435
    • Knight B, Shields BM, Hattersley AT. The Exeter Family Study of Childhood Health (EFSOCH): study protocol and methodology. Paediatr Perinat Epidemiol 2006, 20(2):172-179. 10.1111/j.1365-3016.2006.00701.x, 16466435.
    • (2006) Paediatr Perinat Epidemiol , vol.20 , Issue.2 , pp. 172-179
    • Knight, B.1    Shields, B.M.2    Hattersley, A.T.3
  • 23
    • 0346171340 scopus 로고    scopus 로고
    • Insulin sensitization early after menarche prevents progression from precocious pubarche to polycystic ovary syndrome
    • 10.1016/j.jpeds.2003.08.015, 14722514
    • Ibanez L, et al. Insulin sensitization early after menarche prevents progression from precocious pubarche to polycystic ovary syndrome. J Pediatr 2004, 144(1):23-29. 10.1016/j.jpeds.2003.08.015, 14722514.
    • (2004) J Pediatr , vol.144 , Issue.1 , pp. 23-29
    • Ibanez, L.1
  • 24
    • 38449113853 scopus 로고    scopus 로고
    • DNA methylation analysis by pyrosequencing
    • 10.1038/nprot.2007.314, 17853883
    • Tost J, Gut IG. DNA methylation analysis by pyrosequencing. Nat Protoc 2007, 2(9):2265-2275. 10.1038/nprot.2007.314, 17853883.
    • (2007) Nat Protoc , vol.2 , Issue.9 , pp. 2265-2275
    • Tost, J.1    Gut, I.G.2
  • 25
    • 72749102458 scopus 로고    scopus 로고
    • Hypermethylation of the IGF2 differentially methylated region 2 is a specific event in insulinomas leading to loss-of-imprinting and overexpression
    • 10.1677/ERC-08-0331, 19502451
    • Dejeux E, et al. Hypermethylation of the IGF2 differentially methylated region 2 is a specific event in insulinomas leading to loss-of-imprinting and overexpression. Endocr Relat Cancer 2009, 16(3):939-952. 10.1677/ERC-08-0331, 19502451.
    • (2009) Endocr Relat Cancer , vol.16 , Issue.3 , pp. 939-952
    • Dejeux, E.1
  • 26
    • 8644261515 scopus 로고    scopus 로고
    • [Secular growth changes. Weight, height and body mass index values in infant, children, adolescent and young adults from Barcelona population]
    • Carrascosa A, et al. [Secular growth changes. Weight, height and body mass index values in infant, children, adolescent and young adults from Barcelona population]. Med Clin (Barc) 2004, 123(12):445-451.
    • (2004) Med Clin (Barc) , vol.123 , Issue.12 , pp. 445-451
    • Carrascosa, A.1
  • 27
    • 33749259925 scopus 로고    scopus 로고
    • (Epi)mutations in 11p15 significantly contribute to Silver-Russell syndrome: but are they generally involved in growth retardation?
    • 10.1016/j.ejmg.2006.03.001, 16603426
    • Schonherr N, et al. (Epi)mutations in 11p15 significantly contribute to Silver-Russell syndrome: but are they generally involved in growth retardation?. Eur J Med Genet 2006, 49(5):414-418. 10.1016/j.ejmg.2006.03.001, 16603426.
    • (2006) Eur J Med Genet , vol.49 , Issue.5 , pp. 414-418
    • Schonherr, N.1
  • 28
    • 59749088105 scopus 로고    scopus 로고
    • Clinically distinct epigenetic subgroups in Silver-Russell syndrome: the degree of H19 hypomethylation associates with phenotype severity and genital and skeletal anomalies
    • 10.1210/jc.2008-1805, 19017756
    • Bruce S, et al. Clinically distinct epigenetic subgroups in Silver-Russell syndrome: the degree of H19 hypomethylation associates with phenotype severity and genital and skeletal anomalies. J Clin Endocrinol Metab 2009, 94(2):579-587. 10.1210/jc.2008-1805, 19017756.
    • (2009) J Clin Endocrinol Metab , vol.94 , Issue.2 , pp. 579-587
    • Bruce, S.1
  • 29
    • 33645463808 scopus 로고    scopus 로고
    • Hypomethylation of the H19 gene causes not only Silver-Russell syndrome (SRS) but also isolated asymmetry or an SRS-like phenotype
    • 10.1086/502981, 1424698, 16532391
    • Bliek J, et al. Hypomethylation of the H19 gene causes not only Silver-Russell syndrome (SRS) but also isolated asymmetry or an SRS-like phenotype. Am J Hum Genet 2006, 78(4):604-614. 10.1086/502981, 1424698, 16532391.
    • (2006) Am J Hum Genet , vol.78 , Issue.4 , pp. 604-614
    • Bliek, J.1
  • 30
    • 39749173843 scopus 로고    scopus 로고
    • IGF2/H19 hypomethylation in Silver-Russell syndrome and isolated hemihypoplasia
    • 10.1038/sj.ejhg.5201974, 18159214
    • Zeschnigk M, et al. IGF2/H19 hypomethylation in Silver-Russell syndrome and isolated hemihypoplasia. Eur J Hum Genet 2008, 16(3):328-334. 10.1038/sj.ejhg.5201974, 18159214.
    • (2008) Eur J Hum Genet , vol.16 , Issue.3 , pp. 328-334
    • Zeschnigk, M.1
  • 31
    • 66049151670 scopus 로고    scopus 로고
    • Broad clinical spectrum in Silver-Russell syndrome and consequences for genetic testing in growth retardation
    • 10.1542/peds.2008-3228, 19364767
    • Eggermann T, et al. Broad clinical spectrum in Silver-Russell syndrome and consequences for genetic testing in growth retardation. Pediatrics 2009, 123(5):e929-e931. 10.1542/peds.2008-3228, 19364767.
    • (2009) Pediatrics , vol.123 , Issue.5
    • Eggermann, T.1
  • 32
    • 3242698120 scopus 로고    scopus 로고
    • Searching for genomic variants in IGF2 and CDKN1C in Silver-Russell syndrome patients
    • 10.1016/j.ymgme.2004.04.008, 15234339
    • Obermann C. Searching for genomic variants in IGF2 and CDKN1C in Silver-Russell syndrome patients. Mol Genet Metab 2004, 82:246-250. 10.1016/j.ymgme.2004.04.008, 15234339.
    • (2004) Mol Genet Metab , vol.82 , pp. 246-250
    • Obermann, C.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.