메뉴 건너뛰기




Volumn 50, Issue 12, 2013, Pages 823-830

CDKN1C mutation affecting the PCNA-binding domain as a cause of familial Russell Silver syndrome

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; CYCLIN DEPENDENT KINASE INHIBITOR 1C; PROLINE;

EID: 84890244971     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2013-101691     Document Type: Article
Times cited : (109)

References (36)
  • 2
    • 79955701928 scopus 로고    scopus 로고
    • Epigenetic and genetic mechanisms of abnormal 11p15 genomic imprinting in Silver-Russell and Beckwith-Wiedemann syndromes
    • Demars J, Le Bouc Y, El-Osta A, Gicquel C. Epigenetic and genetic mechanisms of abnormal 11p15 genomic imprinting in Silver-Russell and Beckwith-Wiedemann syndromes. Curr Med Chem 2011;18:1740-50.
    • (2011) Curr Med Chem , vol.18 , pp. 1740-1750
    • Demars, J.1    Le Bouc, Y.2    El-Osta, A.3    Gicquel, C.4
  • 4
    • 66749154227 scopus 로고    scopus 로고
    • Silver-Russell and Beckwith-Wiedemann syndromes: opposite (epi) mutations in 11p15 result in opposite clinical pictures
    • Eggermann T. Silver-Russell and Beckwith-Wiedemann syndromes: opposite (epi) mutations in 11p15 result in opposite clinical pictures. Horm Res 2009;71(Suppl 2):30-5.
    • (2009) Horm Res , vol.71 , Issue.SUPPL. 2 , pp. 30-35
    • Eggermann, T.1
  • 5
  • 6
    • 0036765999 scopus 로고    scopus 로고
    • Duplications of chromosome 11p15 of maternal origin result in a phenotype that includes growth retardation
    • Fisher AM, Thomas NS, Cockwell A, Stecko O, Kerr B, Temple IK, Clayton P. Duplications of chromosome 11p15 of maternal origin result in a phenotype that includes growth retardation. Hum Genet 2002;111:290-6.
    • (2002) Hum Genet , vol.111 , pp. 290-296
    • Fisher, A.M.1    Thomas, N.S.2    Cockwell, A.3    Stecko, O.4    Kerr, B.5    Temple, I.K.6    Clayton, P.7
  • 12
    • 84873057174 scopus 로고    scopus 로고
    • Paternal deletion of the 11p155 centromeric-imprinting control region is associated with alteration of imprinted gene expression and recurrent severe intrauterine growth restriction
    • De Crescenzo A, Sparago A, Cerrato F, Palumbo O, Carella M, Miceli M, Bronshtein M, Riccio A, Yaron Y. Paternal deletion of the 11p15.5 centromeric-imprinting control region is associated with alteration of imprinted gene expression and recurrent severe intrauterine growth restriction. J Med Genet 2013;50:99-103.
    • (2013) J Med Genet , vol.50 , pp. 99-103
    • De Crescenzo, A.1    Sparago, A.2    Cerrato, F.3    Palumbo, O.4    Carella, M.5    Miceli, M.6    Bronshtein, M.7    Riccio, A.8    Yaron, Y.9
  • 16
    • 0030610260 scopus 로고    scopus 로고
    • Coding mutations in p57KIP2 are present in some cases of Beckwith-Wiedemann syndrome but are rare or absent in Wilms tumors
    • O'Keefe D, Dao D, Zhao L, Sanderson R, Warburton D, Weiss L, Anyane-Yeboa K, Tycko B. Coding mutations in p57KIP2 are present in some cases of Beckwith-Wiedemann syndrome but are rare or absent in Wilms tumors. Am J Hum Genet 1997;61:295-303.
    • (1997) Am J Hum Genet , vol.61 , pp. 295-303
    • O'Keefe, D.1    Dao, D.2    Zhao, L.3    Sanderson, R.4    Warburton, D.5    Weiss, L.6    Anyane-Yeboa, K.7    Tycko, B.8
  • 18
    • 0032589195 scopus 로고    scopus 로고
    • Analysis of germline CDKN1C (p57KIP2) mutations in familial and sporadic Beckwith-Wiedemann syndrome (BWS) provides a novel genotype-phenotype correlation
    • Lam WW, Hatada I, Ohishi S, Mukai T, Joyce JA, Cole TR, Donnai D, Reik W, Schofield PN, Maher ER. Analysis of germline CDKN1C (p57KIP2) mutations in familial and sporadic Beckwith-Wiedemann syndrome (BWS) provides a novel genotype-phenotype correlation. J Med Genet 1999;36:518-23.
    • (1999) J Med Genet , vol.36 , pp. 518-523
    • Lam, W.W.1    Hatada, I.2    Ohishi, S.3    Mukai, T.4    Joyce, J.A.5    Cole, T.R.6    Donnai, D.7    Reik, W.8    Schofield, P.N.9    Maher, E.R.10
  • 24
    • 84871676091 scopus 로고    scopus 로고
    • A novel mutation in CDKN1C in sibs with Beckwith-Wiedemann syndrome and cleft palate, sensorineural hearing loss, and supernumerary flexion creases
    • Kantaputra PN, Sittiwangkul R, Sonsuwan N, Romanelli V, Tenorio J, Lapunzina P. A novel mutation in CDKN1C in sibs with Beckwith-Wiedemann syndrome and cleft palate, sensorineural hearing loss, and supernumerary flexion creases. Am J Med Genet A 2012;161:192-7.
    • (2012) Am J Med Genet A , vol.161 , pp. 192-197
    • Kantaputra, P.N.1    Sittiwangkul, R.2    Sonsuwan, N.3    Romanelli, V.4    Tenorio, J.5    Lapunzina, P.6
  • 26
    • 0030955563 scopus 로고    scopus 로고
    • Ablation of the CDK inhibitor p57Kip2 results in increased apoptosis and delayed differentiation during mouse development
    • Yan Y, Frisen J, Lee MH, Massague J, Barbacid M. Ablation of the CDK inhibitor p57Kip2 results in increased apoptosis and delayed differentiation during mouse development. Genes Dev 1997;11:973-83.
    • (1997) Genes Dev , vol.11 , pp. 973-983
    • Yan, Y.1    Frisen, J.2    Lee, M.H.3    Massague, J.4    Barbacid, M.5
  • 28
    • 0028988158 scopus 로고
    • Cloning of p57KIP2, a cyclin-dependent kinase inhibitor with unique domain structure and tissue distribution
    • Lee MH, Reynisdottir I, Massague J. Cloning of p57KIP2, a cyclin-dependent kinase inhibitor with unique domain structure and tissue distribution. Genes Dev 1995;9:639-49.
    • (1995) Genes Dev , vol.9 , pp. 639-649
    • Lee, M.H.1    Reynisdottir, I.2    Massague, J.3
  • 29
    • 0028988159 scopus 로고
    • p57KIP2, a structurally distinct member of the p21CIP1 Cdk inhibitor family, is a candidate tumor suppressor gene
    • Matsuoka S, Edwards MC, Bai C, Parker S, Zhang P, Baldini A, Harper JW, Elledge SJ. p57KIP2, a structurally distinct member of the p21CIP1 Cdk inhibitor family, is a candidate tumor suppressor gene. Genes Dev 1995;9:650-62.
    • (1995) Genes Dev , vol.9 , pp. 650-662
    • Matsuoka, S.1    Edwards, M.C.2    Bai, C.3    Parker, S.4    Zhang, P.5    Baldini, A.6    Harper, J.W.7    Elledge, S.J.8
  • 30
    • 34249066085 scopus 로고    scopus 로고
    • PCNA, the maestro of the replication fork
    • Moldovan GL, Pfander B, Jentsch S. PCNA, the maestro of the replication fork. Cell 2007;129:665-79.
    • (2007) Cell , vol.129 , pp. 665-679
    • Moldovan, G.L.1    Pfander, B.2    Jentsch, S.3
  • 32
    • 0033304828 scopus 로고    scopus 로고
    • IMAGe, a new clinical association of intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies
    • Vilain E, Le Merrer M, Lecointre C, Desangles F, Kay MA, Maroteaux P, McCabe ER. IMAGe, a new clinical association of intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies. J Clin Endocrinol Metab 1999;84:4335-40.
    • (1999) J Clin Endocrinol Metab , vol.84 , pp. 4335-4340
    • Vilain, E.1    Le Merrer, M.2    Lecointre, C.3    Desangles, F.4    Kay, M.A.5    Maroteaux, P.6    McCabe, E.R.7
  • 34
    • 79551551535 scopus 로고    scopus 로고
    • Allele-specific methylated multiplex real-time quantitative PCR (ASMM RTQ-PCR), a powerful method for diagnosing loss of imprinting of the 11p15 region in Russell Silver and Beckwith Wiedemann syndromes
    • Azzi S, Steunou V, Rousseau A, Rossignol S, Thibaud N, Danton F, Le Jule M, Gicquel C, Le Bouc Y, Netchine I. Allele-specific methylated multiplex real-time quantitative PCR (ASMM RTQ-PCR), a powerful method for diagnosing loss of imprinting of the 11p15 region in Russell Silver and Beckwith Wiedemann syndromes. Hum Mutat 2011;32:249-58.
    • (2011) Hum Mutat , vol.32 , pp. 249-258
    • Azzi, S.1    Steunou, V.2    Rousseau, A.3    Rossignol, S.4    Thibaud, N.5    Danton, F.6    Le Jule, M.7    Gicquel, C.8    Le Bouc, Y.9    Netchine, I.10
  • 35
    • 0034488861 scopus 로고    scopus 로고
    • Assessment of p57(KIP2) gene mutation in Beckwith-Wiedemann syndrome
    • Gaston V, Le Bouc Y, Soupre V, Vazquez MP, Gicquel C. Assessment of p57(KIP2) gene mutation in Beckwith-Wiedemann syndrome. Horm Res 2000;54:1-5.
    • (2000) Horm Res , vol.54 , pp. 1-5
    • Gaston, V.1    Le Bouc, Y.2    Soupre, V.3    Vazquez, M.P.4    Gicquel, C.5
  • 36
    • 0015068775 scopus 로고
    • Macroglossia, omphalocele, visceromegaly, cytomegaly of the adrenal cortex and neonatal hypoglycemia
    • Cohen MM Jr. Macroglossia, omphalocele, visceromegaly, cytomegaly of the adrenal cortex and neonatal hypoglycemia. Birth Defects Orig Artic Ser 1971;7:226-32.
    • (1971) Birth Defects Orig Artic Ser , vol.7 , pp. 226-232
    • Cohen Jr, M.M.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.