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Volumn 22, Issue 4, 2014, Pages 453-461

12p microRNA expression in fibroblast cell lines from probands with Pallister-Killian syndrome

Author keywords

Cleft palate; Isochromosome 12p; MEIS2; miR 1244; UQCRB

Indexed keywords

MEIS2 PROTEIN; MICRORNA; MICRORNA 1244; PROTEIN; TRANSCRIPTION FACTOR SOX9; UNCLASSIFIED DRUG; UQCRB PROTEIN; CARRIER PROTEIN; HOMEODOMAIN PROTEIN; MEIS2 PROTEIN, HUMAN; TRANSCRIPTION FACTOR; UBIQUINONE-BINDING PROTEINS;

EID: 84916226416     PISSN: 09673849     EISSN: 15736849     Source Type: Journal    
DOI: 10.1007/s10577-014-9431-y     Document Type: Article
Times cited : (11)

References (26)
  • 1
    • 33645867658 scopus 로고    scopus 로고
    • Fog2 is required for normal diaphragm and lung development in mice and humans
    • COI: 1:CAS:528:DC%2BD2MXmvVekt70%3D, PID: 16103912
    • Ackerman KG, Herron BJ, Vargas SO et al (2005) Fog2 is required for normal diaphragm and lung development in mice and humans. PLoS Genet 1:58–65
    • (2005) PLoS Genet , vol.1 , pp. 58-65
    • Ackerman, K.G.1    Herron, B.J.2    Vargas, S.O.3
  • 2
    • 64549163250 scopus 로고    scopus 로고
    • The promoter of the pri-miR-375 gene directs expression selectively to the endocrine pancreas
    • PID: 19343226
    • Avnit-Sagi T, Kantorovich L, Kredo-Russo S, Hornstein E, Walker MD (2009) The promoter of the pri-miR-375 gene directs expression selectively to the endocrine pancreas. PLoS One 4(4):e5033
    • (2009) PLoS One , vol.4 , Issue.4 , pp. e5033
    • Avnit-Sagi, T.1    Kantorovich, L.2    Kredo-Russo, S.3    Hornstein, E.4    Walker, M.D.5
  • 3
    • 0001677717 scopus 로고
    • Controlling the false discovery rate: a practical and powerful approach to multiple testing
    • Benjamini Y, Hochberg Y (1995) Controlling the false discovery rate: a practical and powerful approach to multiple testing. J R Stat Soc Ser B 57:289–300
    • (1995) J R Stat Soc Ser B , vol.57 , pp. 289-300
    • Benjamini, Y.1    Hochberg, Y.2
  • 4
    • 77951756588 scopus 로고    scopus 로고
    • Further evidence for the possible role of MEIS2 in the development of cleft palate and cardiac septum
    • PID: 20425846
    • Crowley MA, Conlin LK, Zackai EH, Deardorff MA, Thiel BD, Spinner NB (2010) Further evidence for the possible role of MEIS2 in the development of cleft palate and cardiac septum. Am J Med Genet A 152A(5):1326–1327
    • (2010) Am J Med Genet A , vol.152A , Issue.5 , pp. 1326-1327
    • Crowley, M.A.1    Conlin, L.K.2    Zackai, E.H.3    Deardorff, M.A.4    Thiel, B.D.5    Spinner, N.B.6
  • 5
    • 80053385922 scopus 로고    scopus 로고
    • Germline deletion of the miR-17 approximately 92 cluster causes skeletal and growth defects in humans
    • PID: 21892160
    • de Pontual L, Yao E, Callier P et al (2011) Germline deletion of the miR-17 approximately 92 cluster causes skeletal and growth defects in humans. Nat Genet 43(10):1026–1030
    • (2011) Nat Genet , vol.43 , Issue.10 , pp. 1026-1030
    • de Pontual, L.1    Yao, E.2    Callier, P.3
  • 6
    • 78649357404 scopus 로고    scopus 로고
    • Trisomy-21 gene dosage over-expression of miRNAs results in the haploinsufficiency of specific target proteins
    • Elton TS1, Sansom SE, Martin MM (2010) Trisomy-21 gene dosage over-expression of miRNAs results in the haploinsufficiency of specific target proteins. RNA Biol. 7:540–7
    • (2010) RNA Biol , vol.7 , pp. 540-547
    • Elton, E.1    Sansom, S.E.2    Martin, M.M.3
  • 7
    • 0028135336 scopus 로고
    • Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene
    • Foster JW, Dominguez-Steglich MA, Guioli S et al. (1994) Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene. Nature. 1994 Dec 8;372 (6506):525–30.
    • (1994) Nature. 1994 Dec 8;372 (6506) , pp. 525-530
    • Foster, J.W.1    Dominguez-Steglich, M.A.2    Guioli, S.3
  • 8
    • 34247483919 scopus 로고    scopus 로고
    • An evolutionarily conserved mechanism for microRNA-223 expression revealed by microRNA gene profiling
    • COI: 1:CAS:528:DC%2BD2sXlvVGkuro%3D, PID: 17482553
    • Fukao T, Fukuda Y, Kiga K et al (2007) An evolutionarily conserved mechanism for microRNA-223 expression revealed by microRNA gene profiling. Cell 129(3):617–631
    • (2007) Cell , vol.129 , Issue.3 , pp. 617-631
    • Fukao, T.1    Fukuda, Y.2    Kiga, K.3
  • 9
    • 40449100030 scopus 로고    scopus 로고
    • Direct multiplexed measurement of gene expression with color-coded probe pairs
    • COI: 1:CAS:528:DC%2BD1cXjsVGit7w%3D, PID: 18278033
    • Geiss GK, Bumgarner RE, Birditt B et al (2008) Direct multiplexed measurement of gene expression with color-coded probe pairs. Nat Biotechnol 26(3):317–325
    • (2008) Nat Biotechnol , vol.26 , Issue.3 , pp. 317-325
    • Geiss, G.K.1    Bumgarner, R.E.2    Birditt, B.3
  • 10
    • 43049103824 scopus 로고    scopus 로고
    • The miR-200 family and miR-205 regulate epithelial to mesenchymal transition by targeting ZEB1 and SIP1
    • COI: 1:CAS:528:DC%2BD1cXltl2is7c%3D, PID: 18376396
    • Gregory PA, Bert AG, Paterson EL et al (2008) The miR-200 family and miR-205 regulate epithelial to mesenchymal transition by targeting ZEB1 and SIP1. Nat Cell Biol 10:593–601
    • (2008) Nat Cell Biol , vol.10 , pp. 593-601
    • Gregory, P.A.1    Bert, A.G.2    Paterson, E.L.3
  • 11
    • 67849116900 scopus 로고    scopus 로고
    • MirZ: an integrated microRNA expression atlas and target prediction resource
    • COI: 1:CAS:528:DC%2BD1MXosFSkt7k%3D, PID: 19468042
    • Hausser J, Berninger P, Rodak C et al (2009) MirZ: an integrated microRNA expression atlas and target prediction resource. Nucleic Acids Res 37:W266–W272
    • (2009) Nucleic Acids Res , vol.37 , pp. W266-W272
    • Hausser, J.1    Berninger, P.2    Rodak, C.3
  • 13
    • 78751477191 scopus 로고    scopus 로고
    • Gene silencing by microRNAs: contributions of translational repression and mRNA decay
    • COI: 1:CAS:528:DC%2BC3MXmsVelsw%3D%3D, PID: 21245828
    • Huntzinger E, Izaurralde E (2011) Gene silencing by microRNAs: contributions of translational repression and mRNA decay. Nat Rev Genet 12(2):99–110
    • (2011) Nat Rev Genet , vol.12 , Issue.2 , pp. 99-110
    • Huntzinger, E.1    Izaurralde, E.2
  • 14
    • 71149108895 scopus 로고    scopus 로고
    • Conserved microRNA miR-8/miR-200 and its target USH/FOG2 control growth by regulating PI3K
    • COI: 1:CAS:528:DC%2BC3cXhslartrw%3D, PID: 20005803
    • Hyun S, Lee JH, Jin H et al (2009) Conserved microRNA miR-8/miR-200 and its target USH/FOG2 control growth by regulating PI3K. Cell 139:1096–1108
    • (2009) Cell , vol.139 , pp. 1096-1108
    • Hyun, S.1    Lee, J.H.2    Jin, H.3
  • 15
    • 84870247782 scopus 로고    scopus 로고
    • Duplication 12p and Pallister-Killian syndrome: a case report and review of the literature toward defining a Pallister-Killian syndrome minimal critical region
    • PID: 23169682
    • Izumi K, Conlin LK, Berrodin D et al (2012) Duplication 12p and Pallister-Killian syndrome: a case report and review of the literature toward defining a Pallister-Killian syndrome minimal critical region. Am J Med Genet A 158A(12):3033–3045
    • (2012) Am J Med Genet A , vol.158A , Issue.12 , pp. 3033-3045
    • Izumi, K.1    Conlin, L.K.2    Berrodin, D.3
  • 16
    • 84916226215 scopus 로고    scopus 로고
    • Applying Novel Genomic Tools Towards Understanding an Old Chromosomal Diagnosis: Using Genome-wide Expression and SNP Genotyping to Identify the True Cause of Pallister-Killian Syndrome
    • Washington, DC: USA
    • Kaur M, Conlin LK, Spinner NB et al. (2010) Applying Novel Genomic Tools Towards Understanding an Old Chromosomal Diagnosis: Using Genome-wide Expression and SNP Genotyping to Identify the True Cause of Pallister-Killian Syndrome. 60th Annual Meeting of the American Society of Human Genetics, Washington, DC, USA.
    • (2010) 60th Annual Meeting of the American Society of Human Genetics
    • Kaur, M.1    Conlin, L.K.2    Spinner, N.B.3
  • 17
    • 0029843930 scopus 로고    scopus 로고
    • Localization of the human gene encoding the 13.3-kDa subunit of mitochondrial complex III (UQCRB) to 8q22 by in situ hybridization
    • COI: 1:CAS:528:DyaK28XlvVWhsrc%3D, PID: 8751380
    • Malaney S, Heng HH, Tsui LC, Shi XM, Robinson BH (1996) Localization of the human gene encoding the 13.3-kDa subunit of mitochondrial complex III (UQCRB) to 8q22 by in situ hybridization. Cytogenet Cell Genet 73(4):297–299
    • (1996) Cytogenet Cell Genet , vol.73 , Issue.4 , pp. 297-299
    • Malaney, S.1    Heng, H.H.2    Tsui, L.C.3    Shi, X.M.4    Robinson, B.H.5
  • 18
    • 0030987192 scopus 로고    scopus 로고
    • Collaborative study of mosaic tetrasomy 12p or Pallister-Killian syndrome (nineteen fetuses or children)
    • COI: 1:STN:280:DyaK2s3psFajug%3D%3D, PID: 9150850
    • Mathieu M, Piussan C, Thepot F et al (1997) Collaborative study of mosaic tetrasomy 12p or Pallister-Killian syndrome (nineteen fetuses or children). Ann Genet 40(1):45–54
    • (1997) Ann Genet , vol.40 , Issue.1 , pp. 45-54
    • Mathieu, M.1    Piussan, C.2    Thepot, F.3
  • 19
    • 84867095528 scopus 로고    scopus 로고
    • A temporal chromatin signature in human embryonic stem cells identifies regulators of cardiac development
    • COI: 1:CAS:528:DC%2BC38Xhtleru7%2FF, PID: 22981225
    • Paige SL, Thomas S, Stoick-Cooper CL et al (2012) A temporal chromatin signature in human embryonic stem cells identifies regulators of cardiac development. Cell 151(1):221–232
    • (2012) Cell , vol.151 , Issue.1 , pp. 221-232
    • Paige, S.L.1    Thomas, S.2    Stoick-Cooper, C.L.3
  • 21
    • 0023188243 scopus 로고
    • Pallister-Killian syndrome: cytogenetic and molecular studies
    • COI: 1:STN:280:DyaL2szgt1ekuw%3D%3D, PID: 2887316
    • Peltomaki P, Knuutila S, Ritvanen A, Kaitila I, de la Chapelle A (1987) Pallister-Killian syndrome: cytogenetic and molecular studies. Clin Genet 31(6):399–405
    • (1987) Clin Genet , vol.31 , Issue.6 , pp. 399-405
    • Peltomaki, P.1    Knuutila, S.2    Ritvanen, A.3    Kaitila, I.4    de la Chapelle, A.5
  • 22
    • 84855982119 scopus 로고    scopus 로고
    • Evaluation of a droplet digital polymerase chain reaction format for DNA copy number quantification
    • COI: 1:CAS:528:DC%2BC3MXhsFaktbzI, PID: 22122760
    • Pinheiro LB, Coleman VA, Hindson CM et al (2012) Evaluation of a droplet digital polymerase chain reaction format for DNA copy number quantification. Anal Chem 84(2):1003–1011
    • (2012) Anal Chem , vol.84 , Issue.2 , pp. 1003-1011
    • Pinheiro, L.B.1    Coleman, V.A.2    Hindson, C.M.3
  • 23
    • 79952169016 scopus 로고    scopus 로고
    • MicroRNA-15a and −16-1 act via MYB to elevate fetal hemoglobin expression in human trisomy 13
    • COI: 1:CAS:528:DC%2BC3MXhs1SmtL4%3D, PID: 21205891
    • Sankaran VG, Menne TF, Scepanovic D et al (2011) MicroRNA-15a and −16-1 act via MYB to elevate fetal hemoglobin expression in human trisomy 13. Proc Natl Acad Sci U S A 108(4):1519–1524
    • (2011) Proc Natl Acad Sci U S A , vol.108 , Issue.4 , pp. 1519-1524
    • Sankaran, V.G.1    Menne, T.F.2    Scepanovic, D.3
  • 24
    • 0003802608 scopus 로고
    • Case report 72: mental retardation, unusual facial appearance, abnormal hair
    • Teschler-Nicola MKW (1981) Case report 72: mental retardation, unusual facial appearance, abnormal hair. Synd Ident 7:6–7
    • (1981) Synd Ident , vol.7 , pp. 6-7
    • Teschler-Nicola, M.K.W.1
  • 25
    • 0028589588 scopus 로고
    • Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9
    • Wagner T, Wirth J, Meyer J et al. (1994) Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9. Cell. 1994 Dec 16;79 (6):1111–20.
    • (1994) Cell. 1994 Dec 16;79 (6) , pp. 1111-1120
    • Wagner, T.1    Wirth, J.2    Meyer, J.3
  • 26
    • 84870252214 scopus 로고    scopus 로고
    • Novel clinical manifestations in Pallister-Killian syndrome: comprehensive evaluation of 59 affected individuals and review of previously reported cases
    • PID: 23169767
    • Wilkens A, Liu H, Park K et al (2012) Novel clinical manifestations in Pallister-Killian syndrome: comprehensive evaluation of 59 affected individuals and review of previously reported cases. Am J Med Genet A 158A(12):3002–3017
    • (2012) Am J Med Genet A , vol.158A , Issue.12 , pp. 3002-3017
    • Wilkens, A.1    Liu, H.2    Park, K.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.