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Volumn 36, Issue 3, 2013, Pages 505-512

Transient neonatal diabetes, ZFP57, and hypomethylation of multiple imprinted loci

(21)  Boonen, Susanne E a   Mackay, Deborah J G b   Hahnemann, Johanne M D c   Docherty, Louise d   Gronskov, Karen e   Lehmann, Anna f   Larsen, Lise G g   Haemers, Andreas P h   Kockaerts, Yves i   Dooms, Lutgarde j   Vu, Dung ChI k   Ngoc, C T Bich l   Nguyen, Phuong Bich m   Kordonouri, Olga n   Sundberg, Frida o   Dayanikli, Pinar p   Puthi, Vijith a,b   Acerini, Carlo n   Massoud, Ahmed F p   Tumer, Zeynep d   more..


Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CLINICAL ARTICLE; CLINICAL EXAMINATION; CLINICAL FEATURE; CONGENITAL HEART MALFORMATION; DEVELOPMENTAL DISORDER; DIAGNOSTIC TEST; DNA METHYLATION; EPIGENOTYPE; FAMILY HISTORY; FAMILY STUDY; GENE; GENE LOCUS; GENE MUTATION; GENETIC ASSOCIATION; GENOME IMPRINTING; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; INFANT; INSULIN DEPENDENT DIABETES MELLITUS; INTRAUTERINE GROWTH RETARDATION; MACROGLOSSIA; MEDICAL HISTORY; MOLECULAR PATHOLOGY; MOSAICISM; NEWBORN; NEWBORN DISEASE; PHENOTYPIC VARIATION; POLYMERASE CHAIN REACTION; PROGNOSIS; SEQUENCE ANALYSIS; TRANSIENT NEONATAL DIABETES MELLITUS 1; ZFP57 GENE;

EID: 84874435499     PISSN: 01495992     EISSN: 19355548     Source Type: Journal    
DOI: 10.2337/dc12-0700     Document Type: Article
Times cited : (53)

References (38)
  • 1
    • 33644513754 scopus 로고    scopus 로고
    • Epimutation of the tndm locus and the beckwith-wiedemann syndrome centromeric locus in individuals with transient neonatal diabetes mellitus
    • Mackay DJ, Hahnemann JM, Boonen SE, et al. Epimutation of the TNDM locus and the Beckwith-Wiedemann syndrome centromeric locus in individuals with transient neonatal diabetes mellitus. Hum Genet 2006;119:179-184
    • (2006) Hum Genet , vol.119 , pp. 179-184
    • Mackay, D.J.1    Hahnemann, J.M.2    Boonen, S.E.3
  • 2
    • 33746972820 scopus 로고    scopus 로고
    • Amaternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus
    • Mackay DJ, Boonen SE, Clayton-Smith J, et al.Amaternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus. Hum Genet 2006;120:262-269
    • (2006) Hum Genet , vol.120 , pp. 262-269
    • Mackay, D.J.1    Boonen, S.E.2    Clayton-Smith, J.3
  • 3
    • 41049094780 scopus 로고    scopus 로고
    • Clinical characterisation of the multiple maternal hypomethylation syndrome in siblings
    • Boonen SE, Pörksen S, Mackay DJG, et al. Clinical characterisation of the multiple maternal hypomethylation syndrome in siblings. Eur J Hum Genet 2008;16:453-461
    • (2008) Eur J Hum Genet , vol.16 , pp. 453-461
    • Boonen, S.E.1    Pörksen, S.2    Mackay, D.J.G.3
  • 5
    • 48349092985 scopus 로고    scopus 로고
    • Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in zfp57
    • Mackay DJG, Callaway JLA, Marks SM, 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, D.J.G.1    Callaway, J.L.A.2    Marks, S.M.3
  • 6
    • 53249098795 scopus 로고    scopus 로고
    • A maternalzygotic effect gene, zfp57, maintains both maternal and paternal imprints
    • Li X, Ito M, Zhou F, et al. A maternalzygotic effect gene, Zfp57, maintains both maternal and paternal imprints. Dev Cell 2008;15:547-557
    • (2008) Dev Cell , vol.15 , pp. 547-557
    • Li, X.1    Ito, M.2    Zhou, F.3
  • 7
    • 0028224764 scopus 로고
    • A novel nuclear protein with zinc fingers down-regulated during early mammalian cell differentiation
    • Okazaki S, Tanase S, Choudhury BK, et al. A novel nuclear protein with zinc fingers down-regulated during early mammalian cell differentiation. J Biol Chem1994;269: 6900-6907
    • (1994) J Biol Chem , vol.269 , pp. 6900-6907
    • Okazaki, S.1    Tanase, S.2    Choudhury, B.K.3
  • 8
    • 0346022964 scopus 로고    scopus 로고
    • Comprehensive transcriptome analysis of differentiation of embryonic stem cells into midbrain and hindbrain neurons
    • Ahn JI, Lee KH, Shin DM, et al. Comprehensive transcriptome analysis of differentiation of embryonic stem cells into midbrain and hindbrain neurons. Dev Biol 2004;265:491-501
    • (2004) Dev Biol , vol.265 , pp. 491-501
    • Ahn, J.I.1    Lee, K.H.2    Shin, D.M.3
  • 9
    • 34848840927 scopus 로고    scopus 로고
    • Identifying genes preferentially expressed in undifferentiated embryonic stem cells
    • Li X, Leder P. Identifying genes preferentially expressed in undifferentiated embryonic stem cells. BMC Cell Biol 2007;8:37
    • (2007) BMC Cell Biol , vol.8 , pp. 37
    • Li, X.1    Leder, P.2
  • 10
    • 80555156105 scopus 로고    scopus 로고
    • In embryonic stem cells, zfp57/kap1 recognize a methylated hexanucleotide to affect chromatin and dna methylation of imprinting control regions
    • Quenneville S, Verde G, Corsinotti A, et al. In embryonic stem cells, ZFP57/KAP1 recognize a methylated hexanucleotide to affect chromatin and DNA methylation of imprinting control regions. Mol Cell 2011; 44:361-372
    • (2011) Mol Cell , vol.44 , pp. 361-372
    • Quenneville, S.1    Verde, G.2    Corsinotti, A.3
  • 11
    • 84862908822 scopus 로고    scopus 로고
    • Zinc finger protein zfp57 requires its co-factor to recruit dna methyltransferases and maintains dna methylation imprint in embryonic stem cells via its transcriptional repression domain
    • Zuo X, Sheng J, Lau HT, et al. Zinc finger protein ZFP57 requires its co-factor to recruit DNA methyltransferases and maintains DNA methylation imprint in embryonic stem cells via its transcriptional repression domain. J Biol Chem 2012;287:2107-2118
    • (2012) J Biol Chem , vol.287 , pp. 2107-2118
    • Zuo, X.1    Sheng, J.2    Lau, H.T.3
  • 12
    • 33846157180 scopus 로고    scopus 로고
    • The epigenetic imprinting defect of patients with beckwith-wiedemann syndrome born after assisted reproductive technology is not restricted to the 11p15 region
    • Rossignol S, Steunou V, Chalas C, et al. The epigenetic imprinting defect of patients with Beckwith-Wiedemann syndrome born after assisted reproductive 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
  • 13
    • 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, et al. Hypomethylation 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
  • 14
    • 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, 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
  • 15
    • 61449159829 scopus 로고    scopus 로고
    • Clinical and molecular genetic features of beckwith-wiedemann syndrome associated with assisted reproductive technologies
    • LimD, Bowdin SC, Tee L, et al. Clinical and molecular genetic features of Beckwith-Wiedemann syndrome associated with assisted reproductive technologies. Hum Reprod 2009;24:741-747
    • (2009) Hum Reprod , vol.24 , pp. 741-747
    • LimD Bowdin, S.C.1    Tee, L.2
  • 16
    • 77952671659 scopus 로고    scopus 로고
    • Methylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprinted loci
    • Turner CL, MackayDM, Callaway JL, et al. Methylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprinted loci. Eur J Hum Genet 2010;18:648-655
    • (2010) Eur J Hum Genet , vol.18 , pp. 648-655
    • Turner, C.L.1    Mackay, D.M.2    Callaway, J.L.3
  • 17
    • 63449130373 scopus 로고    scopus 로고
    • Germline mutation in nlrp2 (nalp2) in a familial imprinting disorder (beckwith-wiedemann syndrome)
    • Meyer E, Lim D, Pasha S, et al. Germline mutation in NLRP2 (NALP2) in a familial imprinting disorder (Beckwith-Wiedemann Syndrome). PLoSGenet 2009; 5:e1000423
    • (2009) PLoSGenet , vol.5
    • Meyer, E.1    Lim, D.2    Pasha, S.3
  • 18
    • 83255185153 scopus 로고    scopus 로고
    • No evidence for pathogenic variants or maternal effect of zfp57 as the cause of beckwith-wiedemann syndrome
    • Boonen SE, Hahnemann JM, Mackay D, et al. No evidence for pathogenic variants or maternal effect of ZFP57 as the cause of Beckwith-Wiedemann Syndrome. Eur J Hum Genet 2012;20:119-121
    • (2012) Eur J Hum Genet , vol.20 , pp. 119-121
    • Boonen, S.E.1    Hahnemann, J.M.2    Mackay, D.3
  • 19
    • 70350619187 scopus 로고    scopus 로고
    • Screening for genomic variants in zfp57 in silver-russell syndrome patients with 11p15 epimutations
    • Spengler S, Gogiel M, Schönherr N, Binder G, Eggermann T. Screening for genomic variants in ZFP57 in Silver-Russell syndrome patients with 11p15 epimutations. Eur J Med Genet 2009;52:415-416
    • (2009) Eur J Med Genet , vol.52 , pp. 415-416
    • Spengler, S.1    Gogiel, M.2    Schönherr, N.3    Binder, G.4    Eggermann, T.5
  • 20
    • 14044272246 scopus 로고    scopus 로고
    • Bisulphite sequencing of the transient neonatal diabetes mellitus dmr facilitates a novel diagnostic test but reveals no methylation anomalies in patients of unknown aetiology
    • Mackay DJ, Temple IK, Shield JP, Robinson DO. Bisulphite sequencing of the transient neonatal diabetes mellitus DMR facilitates a novel diagnostic test but reveals no methylation anomalies in patients of unknown aetiology. Hum Genet 2005;116:255-261
    • (2005) Hum Genet , vol.116 , pp. 255-261
    • Mackay, D.J.1    Temple, I.K.2    Shield, J.P.3    Robinson, D.O.4
  • 21
    • 0033987736 scopus 로고    scopus 로고
    • Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion
    • den Dunnen JT, Antonarakis SE. Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat 2000;15:7-12
    • (2000) Hum Mutat , vol.15 , pp. 7-12
    • Den Dunnen, J.T.1    Antonarakis, S.E.2
  • 22
  • 23
    • 4644256595 scopus 로고    scopus 로고
    • Beta-cell dysfunction in classic transient neonatal diabetes is characterized by impaired insulin response to glucose but normal response to glucagon
    • Valerio G, Franzese A, Salerno M, et al. Beta-cell dysfunction in classic transient neonatal diabetes is characterized by impaired insulin response to glucose but normal response to glucagon. Diabetes Care 2004;27:2405-2408
    • (2004) Diabetes Care , vol.27 , pp. 2405-2408
    • Valerio, G.1    Franzese, A.2    Salerno, M.3
  • 24
    • 16944364092 scopus 로고    scopus 로고
    • Fortuitous detection of uniparental isodisomy of chromosome 6
    • Bittencourt MC, Morris MA, Chabod J, et al. Fortuitous detection of uniparental isodisomy of chromosome 6. J Med Genet 1997;34:77-78
    • (1997) J Med Genet , vol.34 , pp. 77-78
    • Bittencourt, M.C.1    Morris, M.A.2    Chabod, J.3
  • 25
    • 79958177916 scopus 로고    scopus 로고
    • Silver-russell patients showing a broad range of icr1 and icr2 hypomethylation in different tissues
    • Begemann M, Spengler S, Kanber D, et al. Silver-Russell patients showing a broad range of ICR1 and ICR2 hypomethylation in different tissues. Clin Genet 2011;80: 83-88
    • (2011) Clin Genet , vol.80 , pp. 83-88
    • Begemann, M.1    Spengler, S.2    Kanber, D.3
  • 26
    • 77954664046 scopus 로고    scopus 로고
    • Lessons from imprinted multilocus loss of methylation in human syndromes: A step toward understanding the mechanisms underlying these complex diseases
    • Azzi S, Rossignol S, Le Bouc Y, Netchine I. Lessons from imprinted multilocus loss of methylation in human syndromes: A step toward understanding the mechanisms underlying these complex diseases. Epigenetics 2010;5:373-377
    • (2010) Epigenetics , vol.5 , pp. 373-377
    • Azzi, S.1    Rossignol, S.2    Le Bouc, Y.3    Netchine, I.4
  • 28
    • 0031687985 scopus 로고    scopus 로고
    • Abnormal maternal behaviour and growth retardation associated with loss of the imprinted gene mest
    • Lefebvre L, Viville S, Barton SC, Ishino F, Keverne EB, Surani MA. Abnormal maternal behaviour and growth retardation associated with loss of the imprinted gene Mest. Nat Genet 1998;20:163-169
    • (1998) Nat Genet , vol.20 , pp. 163-169
    • Lefebvre, L.1    Viville, S.2    Barton, S.C.3    Ishino, F.4    Keverne, E.B.5    Surani, M.A.6
  • 30
    • 77955876027 scopus 로고    scopus 로고
    • Imprinting on chromosome 20: Tissue-specific imprinting and imprinting mutations in the gnas locus
    • Kelsey G. Imprinting on chromosome 20: tissue-specific imprinting and imprinting mutations in the GNAS locus. Am J Med Genet C Semin Med Genet 2010;154C: 377-386
    • (2010) Am J Med Genet C Semin Med Genet , vol.154 C , pp. 377-386
    • Kelsey, G.1
  • 31
    • 33644615366 scopus 로고    scopus 로고
    • Mutations in nalp7 cause recurrent hydatidiform moles and reproductive wastage in humans
    • Murdoch S, Djuric U, Mazhar B, et al. Mutations in NALP7 cause recurrent hydatidiform moles and reproductive wastage in humans. Nat Genet 2006;38:300-302
    • (2006) Nat Genet , vol.38 , pp. 300-302
    • Murdoch, S.1    Djuric, U.2    Mazhar, B.3
  • 32
    • 77956278944 scopus 로고    scopus 로고
    • Extending the maternal-zygotic effect with genomic imprinting
    • Li X. Extending the maternal-zygotic effect with genomic imprinting. Mol Hum Reprod 2010;16:695-703
    • (2010) Mol Hum Reprod , vol.16 , pp. 695-703
    • Li, X.1
  • 33
    • 34247880183 scopus 로고    scopus 로고
    • Neonatal diabetes mellitus: A disease linked to multiple mechanisms
    • Polak M, Cavé H. Neonatal diabetes mellitus: a disease linked to multiple mechanisms. Orphanet J Rare Dis 2007;2:12
    • (2007) Orphanet J Rare Dis , vol.2 , pp. 12
    • Polak, M.1    Cavé, H.2
  • 34
    • 0033925613 scopus 로고    scopus 로고
    • Neonatal diabetes: New insights into aetiology and implications
    • Shield JP. Neonatal diabetes: new insights into aetiology and implications. HormRes 2000;53(Suppl. 1):7-11
    • (2000) HormRes , vol.53 , Issue.SUPPL. 1 , pp. 7-11
    • Shield, J.P.1
  • 35
    • 77952706373 scopus 로고    scopus 로고
    • Incidence of neonatal diabetes in austria-calculation based on the austrian diabetes register
    • Wiedemann B, Schober E, Waldhoer T, et al. Incidence of neonatal diabetes in Austria-calculation based on the Austrian Diabetes Register. Pediatr Diabetes 2010; 11:18-23
    • (2010) Pediatr Diabetes , vol.11 , pp. 18-23
    • Wiedemann, B.1    Schober, E.2    Waldhoer, T.3
  • 36
    • 84867988456 scopus 로고    scopus 로고
    • Minimal incidence of neonatalinfancy onset diabetes in italy is 1:90000 live births
    • The Early Diabetes Study Group Of ISPED
    • Iafusco D, MassaO, Pasquino B, et al.; The Early Diabetes Study Group of ISPED. Minimal incidence of neonatal/infancy onset diabetes in Italy is 1:90,000 live births. Acta Diabetol 2012;49:405-408
    • (2012) Acta Diabetol , vol.49 , pp. 405-408
    • Iafusco, D.1    MassaO Pasquino, B.2
  • 37
    • 34347387276 scopus 로고    scopus 로고
    • + channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood
    • Flanagan SE, Patch AM, Mackay DJ, et al. Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood. Diabetes 2007;56:1930-1937
    • (2007) Diabetes , vol.56 , pp. 1930-1937
    • Flanagan, S.E.1    Patch, A.M.2    Mackay, D.J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.