메뉴 건너뛰기




Volumn , Issue , 2011, Pages 581-593

Imprinting disorders in humans

Author keywords

[No Author keywords available]

Indexed keywords


EID: 84882908878     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1016/B978-0-12-375709-8.00036-8     Document Type: Chapter
Times cited : (1)

References (45)
  • 1
    • 0026036288 scopus 로고
    • Genomic imprinting and the strange case of the insulin-like growth factor II receptor
    • Haig D, Graham C Genomic imprinting and the strange case of the insulin-like growth factor II receptor. Cell 1991, 64:1045-1046.
    • (1991) Cell , vol.64 , pp. 1045-1046
    • Haig, D.1    Graham, C.2
  • 2
    • 0025958320 scopus 로고
    • Genomic imprinting in mammalian development: a parental tug-of-war
    • Moore T, Haig D Genomic imprinting in mammalian development: a parental tug-of-war. Trends Genet 1991, 7:45-49.
    • (1991) Trends Genet , vol.7 , pp. 45-49
    • Moore, T.1    Haig, D.2
  • 3
    • 26444564294 scopus 로고    scopus 로고
    • Assisted reproduction: the epigenetic perspective
    • Horsthemke B, Ludwig M Assisted reproduction: the epigenetic perspective. Hum Reprod Update 2005, 11:473-482.
    • (2005) Hum Reprod Update , vol.11 , pp. 473-482
    • Horsthemke, B.1    Ludwig, M.2
  • 4
    • 22144446038 scopus 로고    scopus 로고
    • Uniparental disomy (UPD) other than 15: phenotypes and bibliography updated
    • Kotzot D, Utermann G Uniparental disomy (UPD) other than 15: phenotypes and bibliography updated. Am J Med Genet 2005, 136:287-305.
    • (2005) Am J Med Genet , vol.136 , pp. 287-305
    • Kotzot, D.1    Utermann, G.2
  • 5
    • 51849158675 scopus 로고    scopus 로고
    • Complex and segmental uniparental disomy updated
    • Kotzot D Complex and segmental uniparental disomy updated. J Med Genet 2008, 45:545-556.
    • (2008) J Med Genet , vol.45 , pp. 545-556
    • Kotzot, D.1
  • 7
    • 49449111926 scopus 로고    scopus 로고
    • Mechanisms of imprinting of the Prader-Willi/Angelman region
    • Horsthemke B, WagstaffJ Mechanisms of imprinting of the Prader-Willi/Angelman region. Am J Med Genet 2008, 146A:2041-2052.
    • (2008) Am J Med Genet , vol.146 A , pp. 2041-2052
    • Horsthemke, B.1    Wagstaff, J.2
  • 8
    • 48349092985 scopus 로고    scopus 로고
    • Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57
    • Mackay JDG, Callaway JLA, Marks SM, White HE, Acerini CL, Boonen SE, et al. Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57. Nat Genet 2008, 40:949-951.
    • (2008) Nat Genet , vol.40 , pp. 949-951
    • Mackay, J.D.G.1    Callaway, J.L.A.2    Marks, S.M.3    White, H.E.4    Acerini, C.L.5    Boonen, S.E.6
  • 9
    • 63449130373 scopus 로고    scopus 로고
    • Germline mutation in NLRP2 (NALP2) in a familial imprinting disorder (Beckwith-Wiedemann syndrome)
    • Meyer E, Lim D, Pasha S, Tee LJ, Rahman F, Yates JRW, et al. Germline mutation in NLRP2 (NALP2) in a familial imprinting disorder (Beckwith-Wiedemann syndrome). PLoS Genet 2009, 5:e1000423.
    • (2009) PLoS Genet , vol.5
    • Meyer, E.1    Lim, D.2    Pasha, S.3    Tee, L.J.4    Rahman, F.5    Yates, J.R.W.6
  • 10
    • 67349253397 scopus 로고    scopus 로고
    • Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome
    • Bliek J, Verde G, Callaway J, Maas SM, De Crescenzo A, Sparago A, et al. Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome. Eur J Hum Genet 2008, 17:611-619.
    • (2008) Eur J Hum Genet , vol.17 , pp. 611-619
    • Bliek, J.1    Verde, G.2    Callaway, J.3    Maas, S.M.4    De Crescenzo, A.5    Sparago, A.6
  • 11
    • 67651036882 scopus 로고    scopus 로고
    • LOT1 (ZAC1/PLAGL1) as member of an imprinted gene network does not harbor Silver-Russell specific variants
    • Jäger S, Schönherr N, Spengler S, Ranke MB, Wollmann HA, Binder G, et al. LOT1 (ZAC1/PLAGL1) as member of an imprinted gene network does not harbor Silver-Russell specific variants. J Ped Endocrin Metabol 2009, 22:555-559.
    • (2009) J Ped Endocrin Metabol , vol.22 , pp. 555-559
    • Jäger, S.1    Schönherr, N.2    Spengler, S.3    Ranke, M.B.4    Wollmann, H.A.5    Binder, G.6
  • 12
    • 0025320906 scopus 로고
    • A growth-deficient phenotype in heterozygous mice carrying an insulin-like growth factor II gene disrupted by targeting
    • DeChiara TM, Efstratiadis A, Robertson EJ A growth-deficient phenotype in heterozygous mice carrying an insulin-like growth factor II gene disrupted by targeting. Nature 1990, 345:78-80.
    • (1990) Nature , vol.345 , pp. 78-80
    • DeChiara, T.M.1    Efstratiadis, A.2    Robertson, E.J.3
  • 14
    • 0032527755 scopus 로고    scopus 로고
    • Igf2 imprinting does not require its own DNA methylation or H19 RNA
    • Jones BK, Levorse JM, Tilghman SM Igf2 imprinting does not require its own DNA methylation or H19 RNA. Genes Dev 1998, 12:2200-2207.
    • (1998) Genes Dev , vol.12 , pp. 2200-2207
    • Jones, B.K.1    Levorse, J.M.2    Tilghman, S.M.3
  • 15
    • 33847271696 scopus 로고    scopus 로고
    • The imprinted H19 noncoding RNA is a primary micro RNA precursor
    • Cai X, Cullen BR The imprinted H19 noncoding RNA is a primary micro RNA precursor. RNA 2007, 13:313-316.
    • (2007) RNA , vol.13 , pp. 313-316
    • Cai, X.1    Cullen, B.R.2
  • 16
    • 0032588015 scopus 로고    scopus 로고
    • Functional analysis of the p57KIP2 mutation in Beckwith-Wiedemann syndrome
    • Bhuiyan ZA, Yatsuki H, Sasaguri T, Joh K, Soejima H, Zhu X, et al. Functional analysis of the p57KIP2 mutation in Beckwith-Wiedemann syndrome. Hum Genet 1999, 104:205-210.
    • (1999) Hum Genet , vol.104 , pp. 205-210
    • Bhuiyan, Z.A.1    Yatsuki, H.2    Sasaguri, T.3    Joh, K.4    Soejima, H.5    Zhu, X.6
  • 17
    • 18744406710 scopus 로고    scopus 로고
    • KIP2(CDKN1C) are in an imprinted gene network that may play a role in Beckwith-Wiedemann syndrome
    • KIP2(CDKN1C) are in an imprinted gene network that may play a role in Beckwith-Wiedemann syndrome. Nucleic Acids Res 2005, 33:2650-2660.
    • (2005) Nucleic Acids Res , vol.33 , pp. 2650-2660
    • Arima, T.1    Kamikihara, T.2    Hayashi, K.3
  • 19
    • 33846157180 scopus 로고    scopus 로고
    • The epigenetic imprinting defect of patients with Beckwith-Wiedemann syndrome born after assisted reproduction technology is not restricted to the 11p15 region
    • Rossignol S, Steunou V, Chalas C, Kerjean A, Rigolet M, Viegas-Pequignot E, et al. The epigenetic imprinting defect of patients with Beckwith-Wiedemann syndrome born after assisted reproduction technology is not restricted to the 11p15 region. J Med Genet 2006, 43:902-907.
    • (2006) J Med Genet , vol.43 , pp. 902-907
    • Rossignol, S.1    Steunou, V.2    Chalas, C.3    Kerjean, A.4    Rigolet, M.5    Viegas-pequignot, E.6
  • 20
    • 67349253397 scopus 로고    scopus 로고
    • Hyopmethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome
    • Bliek J, Verde G, Callaway J, Maas SM, De Crescenzo A, Sparago A, et al. Hyopmethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome. Eur J Hum Genet 2009, 17:611-619.
    • (2009) Eur J Hum Genet , vol.17 , pp. 611-619
    • Bliek, J.1    Verde, G.2    Callaway, J.3    Maas, S.M.4    De Crescenzo, A.5    Sparago, A.6
  • 21
    • 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
    • Azzi S, Rossignol S, Steunou V, Sas T, Thibaud N, Danton F, 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, 18:4724-4733.
    • (2009) Hum Mol Genet , vol.18 , pp. 4724-4733
    • Azzi, S.1    Rossignol, S.2    Steunou, V.3    Sas, T.4    Thibaud, N.5    Danton, F.6
  • 22
    • 70450242951 scopus 로고    scopus 로고
    • Lessons from BWS twins: complex maternal and paternal hypomethylation and a common source of haematopoietic stem cells
    • Bliek J, Alders M, Maas SM, Oostra RJ, Mackay DM, van der Lip K, et al. Lessons from BWS twins: complex maternal and paternal hypomethylation and a common source of haematopoietic stem cells. Eur J Hum Genet 2009, 17:1625-1634.
    • (2009) Eur J Hum Genet , vol.17 , pp. 1625-1634
    • Bliek, J.1    Alders, M.2    Maas, S.M.3    Oostra, R.J.4    Mackay, D.M.5    Van Der Lip, K.6
  • 24
    • 33845447175 scopus 로고    scopus 로고
    • LOT1 (ZAC1/PLAGL1) and its family members: mechanisms and functions
    • Abdollahi A LOT1 (ZAC1/PLAGL1) and its family members: mechanisms and functions. J Cell Physiol 2007, 210:16-25.
    • (2007) J Cell Physiol , vol.210 , pp. 16-25
    • Abdollahi, A.1
  • 25
    • 41149121472 scopus 로고    scopus 로고
    • Growth retardation versus overgrowth: Silver-Russell syndrome is genetically opposite to Beckwith-Wiedemann syndrome
    • Eggermann T, Eggermann K, Schönherr N Growth retardation versus overgrowth: Silver-Russell syndrome is genetically opposite to Beckwith-Wiedemann syndrome. Trends Genet 2008, 24:195-204.
    • (2008) Trends Genet , vol.24 , pp. 195-204
    • Eggermann, T.1    Eggermann, K.2    Schönherr, N.3
  • 26
    • 25144454048 scopus 로고    scopus 로고
    • Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome
    • Gicquel C, Rossignol S, Cabrol S, Houang M, Steunou V, Barbu V, et al. Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome. Nat Genet 2005, 37:1003-1007.
    • (2005) Nat Genet , vol.37 , pp. 1003-1007
    • Gicquel, C.1    Rossignol, S.2    Cabrol, S.3    Houang, M.4    Steunou, V.5    Barbu, V.6
  • 30
    • 77953727872 scopus 로고    scopus 로고
    • Submicroscopic chromosomal imbalances in idiopathic Silver-Russell syndrome (SRS): the SRS phenotype overlaps with the 12q14 microdeletion syndrome
    • Epub ahead of print
    • Spengler S, Schonherr N, Binder G, Wollmann H, Fricke-Otto S, Muhlenberg R, et al. Submicroscopic chromosomal imbalances in idiopathic Silver-Russell syndrome (SRS): the SRS phenotype overlaps with the 12q14 microdeletion syndrome. J Med Genet 2009, Epub ahead of print.
    • (2009) J Med Genet
    • Spengler, S.1    Schonherr, N.2    Binder, G.3    Wollmann, H.4    Fricke-otto, S.5    Muhlenberg, R.6
  • 31
    • 66049151670 scopus 로고    scopus 로고
    • Broad clinical spectrum in Silver-Russell syndrome and consequences for genetic testing in growth retardation
    • Eggermann T, Gonzalez D, Spengler S, Arslan-Kirchner M, Binder G, Schönherr N Broad clinical spectrum in Silver-Russell syndrome and consequences for genetic testing in growth retardation. Pediatr 2009, 123:e929.
    • (2009) Pediatr , vol.123
    • Eggermann, T.1    Gonzalez, D.2    Spengler, S.3    Arslan-kirchner, M.4    Binder, G.5    Schönherr, N.6
  • 33
    • 33748157127 scopus 로고    scopus 로고
    • Beckwith-Wiedemann syndrome: multiple molecular mechanisms
    • Enklaar T, Zabel BU, Prawitt D Beckwith-Wiedemann syndrome: multiple molecular mechanisms. Expert Rev Mol Med 2006, 8:1-18.
    • (2006) Expert Rev Mol Med , vol.8 , pp. 1-18
    • Enklaar, T.1    Zabel, B.U.2    Prawitt, D.3
  • 36
    • 0025819444 scopus 로고
    • Uniparental heterodisomy for chromosome 14 in a phenotypically abnormal familial balanced 13/14 translocation carrier
    • Wang JC, Passage MB, Yen PH, Shapiro LJ, Mohandas TK Uniparental heterodisomy for chromosome 14 in a phenotypically abnormal familial balanced 13/14 translocation carrier. Am J Hum Genet 1991, 48:1069-1074.
    • (1991) Am J Hum Genet , vol.48 , pp. 1069-1074
    • Wang, J.C.1    Passage, M.B.2    Yen, P.H.3    Shapiro, L.J.4    Mohandas, T.K.5
  • 37
    • 35348901901 scopus 로고    scopus 로고
    • Isolated imprinting mutation of the DLK1/GTL2 locus associated with a clinical presentation of maternal uniparental disomy of chromosome 14
    • Temple IK, Shrubb V, Lever M, Bullmann H, Mackay DJ Isolated imprinting mutation of the DLK1/GTL2 locus associated with a clinical presentation of maternal uniparental disomy of chromosome 14. J Med Genet 2007, 44:637-640.
    • (2007) J Med Genet , vol.44 , pp. 637-640
    • Temple, I.K.1    Shrubb, V.2    Lever, M.3    Bullmann, H.4    Mackay, D.J.5
  • 38
    • 38649135702 scopus 로고    scopus 로고
    • Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypes
    • Kagami M, Sekita Y, Nishimura G, Irie M, Kato F, Okada M, et al. Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypes. Nat Genet 2008, 40:237-242.
    • (2008) Nat Genet , vol.40 , pp. 237-242
    • Kagami, M.1    Sekita, Y.2    Nishimura, G.3    Irie, M.4    Kato, F.5    Okada, M.6
  • 39
    • 51549093979 scopus 로고    scopus 로고
    • Clinical features of maternal uniparental disomy 14 in patients with an epimutation and a deletion of the imprinted DLK1/GTL2 gene cluster
    • Buiting K, Kanber D, Martin-Subero JI, Lieb W, Terhal P, Albrecht B, et al. Clinical features of maternal uniparental disomy 14 in patients with an epimutation and a deletion of the imprinted DLK1/GTL2 gene cluster. Hum Mutat 2008, 29:1141-1146.
    • (2008) Hum Mutat , vol.29 , pp. 1141-1146
    • Buiting, K.1    Kanber, D.2    Martin-subero, J.I.3    Lieb, W.4    Terhal, P.5    Albrecht, B.6
  • 40
    • 33749520007 scopus 로고    scopus 로고
    • Is there a higher incidence of maternal uniparental disomy 14 [upd(14)mat]? Detection of 10 new patients by methylation-specific PCR
    • Mitter D, Buiting K, von Eggeling F, Kuechler A, Liehr T, Mau-Holzmann UA, et al. Is there a higher incidence of maternal uniparental disomy 14 [upd(14)mat]? Detection of 10 new patients by methylation-specific PCR. Am J Med Genet 2006, 140A:2039-2049.
    • (2006) Am J Med Genet , vol.140 A , pp. 2039-2049
    • Mitter, D.1    Buiting, K.2    Von Eggeling, F.3    Kuechler, A.4    Liehr, T.5    Mau-holzmann, U.A.6
  • 41
    • 1042267409 scopus 로고    scopus 로고
    • Prader-Willi syndrome: advances in genetics, pathophysiology and treatment
    • Goldstone AP Prader-Willi syndrome: advances in genetics, pathophysiology and treatment. Trends Endocrinol Metab 2004, 15:12-20.
    • (2004) Trends Endocrinol Metab , vol.15 , pp. 12-20
    • Goldstone, A.P.1
  • 43
    • 17844406661 scopus 로고    scopus 로고
    • GNAS locus and pseudoparathyroidism
    • Bastepe M, Juppner H GNAS locus and pseudoparathyroidism. Hormone Res 2005, 63:65-74.
    • (2005) Hormone Res , vol.63 , pp. 65-74
    • Bastepe, M.1    Juppner, H.2
  • 44
    • 27244433456 scopus 로고    scopus 로고
    • Paternal deletion of the GNAS imprinted locus (including Gnasx1) in two girls presenting with severe pre- and postnatal growth retardation and intractable feeding difficulties
    • Geneviève D, Sanlaville D, Faivre L, Kottler M-L, Jambou M, Gosset P, et al. Paternal deletion of the GNAS imprinted locus (including Gnasx1) in two girls presenting with severe pre- and postnatal growth retardation and intractable feeding difficulties. Eur J Hum Genet 2005, 1:1033-1039.
    • (2005) Eur J Hum Genet , vol.1 , pp. 1033-1039
    • Geneviève, D.1    Sanlaville, D.2    Faivre, L.3    Kottler, M.-L.4    Jambou, M.5    Gosset, P.6
  • 45
    • 37249069897 scopus 로고    scopus 로고
    • Use of multiplex ligation-dependent probe amplification increases the detection rate for 11p15 epigenetic alterations in Silver-Russell syndrome
    • Eggermann T, Schönherr N, Eggermann K, Buiting K, Ranke MB, Wollmann HA, et al. Use of multiplex ligation-dependent probe amplification increases the detection rate for 11p15 epigenetic alterations in Silver-Russell syndrome. Clin Genet 2008, 73:79-84.
    • (2008) Clin Genet , vol.73 , pp. 79-84
    • Eggermann, T.1    Schönherr, N.2    Eggermann, K.3    Buiting, K.4    Ranke, M.B.5    Wollmann, H.A.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.