메뉴 건너뛰기




Volumn 54, Issue 1, 2014, Pages 12-21

Human diseases caused by germline and somatic abnormalities in microRNA and microRNA-related genes

Author keywords

Chromosomal abnormality; Dicer TRBP complex; Drosha DGCR8 complex; Haploinsufficiency; Seed sequence

Indexed keywords

CHROMOSOMAL ABNORMALITY; DICER/TRBP COMPLEX; DROSHA/DGCR8 COMPLEX; HAPLOINSUFFICIENCY; SEED SEQUENCE;

EID: 84894431229     PISSN: 09143505     EISSN: 17414520     Source Type: Journal    
DOI: 10.1111/cga.12043     Document Type: Review
Times cited : (34)

References (84)
  • 1
    • 26844498125 scopus 로고    scopus 로고
    • Sequence variants in SLITRK1 are associated with Tourette's syndrome
    • Abelson JF, Kwan KY, O'Roak BJ etal. 2005. Sequence variants in SLITRK1 are associated with Tourette's syndrome. Science 310:317-320.
    • (2005) Science , vol.310 , pp. 317-320
    • Abelson, J.F.1    Kwan, K.Y.2    O'Roak, B.J.3
  • 2
    • 84891882468 scopus 로고    scopus 로고
    • Defective DROSHA processing contributes to downregulation of MiR-15/-16 in chronic lymphocytic leukemia
    • doi:10.1038/leu.2013.246.
    • Allegra D, Bilan V, Garding A etal. 2013. Defective DROSHA processing contributes to downregulation of MiR-15/-16 in chronic lymphocytic leukemia. Leukemia doi:10.1038/leu.2013.246.
    • (2013) Leukemia
    • Allegra, D.1    Bilan, V.2    Garding, A.3
  • 4
    • 0037097597 scopus 로고    scopus 로고
    • Narrowing and genomic annotation of the commonly deleted region of the 5q- syndrome
    • Boultwood J, Fidler C, Strickson AJ etal. 2002. Narrowing and genomic annotation of the commonly deleted region of the 5q- syndrome. Blood 99:4638-4641.
    • (2002) Blood , vol.99 , pp. 4638-4641
    • Boultwood, J.1    Fidler, C.2    Strickson, A.J.3
  • 5
    • 79952134938 scopus 로고    scopus 로고
    • A synonymous variant in IRGM alters a binding site for miR-196 and causes deregulation of IRGM-dependent xenophagy in Crohn's disease
    • Brest P, Lapaquette P, Souidi M etal. 2011. A synonymous variant in IRGM alters a binding site for miR-196 and causes deregulation of IRGM-dependent xenophagy in Crohn's disease. Nat Genet 43:242-245.
    • (2011) Nat Genet , vol.43 , pp. 242-245
    • Brest, P.1    Lapaquette, P.2    Souidi, M.3
  • 6
    • 18744396337 scopus 로고    scopus 로고
    • Frequent deletions and down-regulation of micro- RNA genes miR15 and miR16 at 13q14 in chronic lymphocytic leukemia
    • Calin GA, Dumitru CD, Shimizu M etal. 2002. Frequent deletions and down-regulation of micro- RNA genes miR15 and miR16 at 13q14 in chronic lymphocytic leukemia. Proc Natl Acad Sci U S A 99:15524-15529.
    • (2002) Proc Natl Acad Sci U S A , vol.99 , pp. 15524-15529
    • Calin, G.A.1    Dumitru, C.D.2    Shimizu, M.3
  • 7
    • 27244434788 scopus 로고    scopus 로고
    • A MicroRNA signature associated with prognosis and progression in chronic lymphocytic leukemia
    • Calin GA, Ferracin M, Cimmino A etal. 2005. A MicroRNA signature associated with prognosis and progression in chronic lymphocytic leukemia. N Engl J Med 353:1793-1801.
    • (2005) N Engl J Med , vol.353 , pp. 1793-1801
    • Calin, G.A.1    Ferracin, M.2    Cimmino, A.3
  • 8
    • 0141993865 scopus 로고    scopus 로고
    • Feingold syndrome: clinical review and genetic mapping
    • Celli J, van Bokhoven H, Brunner HG. 2003. Feingold syndrome: clinical review and genetic mapping. Am J Med Genet A 122A:294-300.
    • (2003) Am J Med Genet A , vol.122 A , pp. 294-300
    • Celli, J.1    van Bokhoven, H.2    Brunner, H.G.3
  • 9
    • 23044468799 scopus 로고    scopus 로고
    • X-linked dominant chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia
    • Chassaing N, Siani V, Carles D etal. 2005. X-linked dominant chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia. Am J Med Genet A 136A:307-312.
    • (2005) Am J Med Genet A , vol.136 A , pp. 307-312
    • Chassaing, N.1    Siani, V.2    Carles, D.3
  • 10
    • 67749132423 scopus 로고    scopus 로고
    • Argonaute HITS-CLIP decodes microRNA-mRNA interaction maps
    • Chi SW, Zang JB, Mele A, Darnell RB. 2009. Argonaute HITS-CLIP decodes microRNA-mRNA interaction maps. Nature 460:479-486.
    • (2009) Nature , vol.460 , pp. 479-486
    • Chi, S.W.1    Zang, J.B.2    Mele, A.3    Darnell, R.B.4
  • 11
    • 84856695673 scopus 로고    scopus 로고
    • Circulating microRNAs: novel biomarkers and extracellular communicators in cardiovascular disease?
    • Creemers EE, Tijsen AJ, Pinto YM. 2012. Circulating microRNAs: novel biomarkers and extracellular communicators in cardiovascular disease? Circ Res 110:483-495.
    • (2012) Circ Res , vol.110 , pp. 483-495
    • Creemers, E.E.1    Tijsen, A.J.2    Pinto, Y.M.3
  • 12
    • 80053385922 scopus 로고    scopus 로고
    • Germline deletion of the miR-17 approximately 92 cluster causes skeletal and growth defects in humans
    • de Pontual L, Yao E, Callier P etal. 2011. Germline deletion of the miR-17 approximately 92 cluster causes skeletal and growth defects in humans. Nat Genet 43:1026-1030.
    • (2011) Nat Genet , vol.43 , pp. 1026-1030
    • de Pontual, L.1    Yao, E.2    Callier, P.3
  • 13
    • 33750606811 scopus 로고    scopus 로고
    • Examination of the SLITRK1 gene in Caucasian patients with Tourette syndrome
    • Deng H, Le WD, Xie WJ, Jankovic J. 2006. Examination of the SLITRK1 gene in Caucasian patients with Tourette syndrome. Acta Neurol Scand 114:400-402.
    • (2006) Acta Neurol Scand , vol.114 , pp. 400-402
    • Deng, H.1    Le, W.D.2    Xie, W.J.3    Jankovic, J.4
  • 14
    • 0034727833 scopus 로고    scopus 로고
    • Genomic aberrations and survival in chronic lymphocytic leukemia
    • Dohner H, Stilgenbauer S, Benner A etal. 2000. Genomic aberrations and survival in chronic lymphocytic leukemia. N Engl J Med 343:1910-1916.
    • (2000) N Engl J Med , vol.343 , pp. 1910-1916
    • Dohner, H.1    Stilgenbauer, S.2    Benner, A.3
  • 15
    • 0035155439 scopus 로고    scopus 로고
    • Loss of heterozygosity at 13q14 and 13q21 in high grade, high stage prostate cancer
    • Dong JT, Boyd JC, Frierson HF Jr. 2001. Loss of heterozygosity at 13q14 and 13q21 in high grade, high stage prostate cancer. Prostate 49:166-171.
    • (2001) Prostate , vol.49 , pp. 166-171
    • Dong, J.T.1    Boyd, J.C.2    Frierson Jr, H.F.3
  • 16
    • 38349088899 scopus 로고    scopus 로고
    • Identification of RPS14 as a 5q- syndrome gene by RNA interference screen
    • Ebert BL, Pretz J, Bosco J etal. 2008. Identification of RPS14 as a 5q- syndrome gene by RNA interference screen. Nature 451:335-339.
    • (2008) Nature , vol.451 , pp. 335-339
    • Ebert, B.L.1    Pretz, J.2    Bosco, J.3
  • 17
    • 0033358588 scopus 로고    scopus 로고
    • Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome
    • Edelmann L, Pandita RK, Morrow BE. 1999. Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome. Am J Hum Genet 64:1076-1086.
    • (1999) Am J Hum Genet , vol.64 , pp. 1076-1086
    • Edelmann, L.1    Pandita, R.K.2    Morrow, B.E.3
  • 18
    • 78649357404 scopus 로고    scopus 로고
    • Trisomy-21 gene dosage over-expression of miRNAs results in the haploinsufficiency of specific target proteins
    • Elton TS, Sansom SE, Martin MM. 2010. Trisomy-21 gene dosage over-expression of miRNAs results in the haploinsufficiency of specific target proteins. RNA Biol 7:540-547.
    • (2010) RNA Biol , vol.7 , pp. 540-547
    • Elton, T.S.1    Sansom, S.E.2    Martin, M.M.3
  • 19
    • 81355142141 scopus 로고    scopus 로고
    • Non-coding RNAs in human disease
    • Esteller M. 2011. Non-coding RNAs in human disease. Nat Rev Genet 12:861-874.
    • (2011) Nat Rev Genet , vol.12 , pp. 861-874
    • Esteller, M.1
  • 20
    • 38049069288 scopus 로고    scopus 로고
    • A large Italian family with Gilles de la Tourette syndrome: clinical study and analysis of the SLITRK1 gene
    • Fabbrini G, Pasquini M, Aurilia C etal. 2007. A large Italian family with Gilles de la Tourette syndrome: clinical study and analysis of the SLITRK1 gene. Mov Disord 22:2229-2234.
    • (2007) Mov Disord , vol.22 , pp. 2229-2234
    • Fabbrini, G.1    Pasquini, M.2    Aurilia, C.3
  • 21
    • 79952733634 scopus 로고    scopus 로고
    • Deficiency of Dgcr8, a gene disrupted by the 22q11.2 microdeletion, results in altered short-term plasticity in the prefrontal cortex
    • Fenelon K, Mukai J, Xu B etal. 2011. Deficiency of Dgcr8, a gene disrupted by the 22q11.2 microdeletion, results in altered short-term plasticity in the prefrontal cortex. Proc Natl Acad Sci U S A 108:4447-4452.
    • (2011) Proc Natl Acad Sci U S A , vol.108 , pp. 4447-4452
    • Fenelon, K.1    Mukai, J.2    Xu, B.3
  • 22
    • 44349136821 scopus 로고    scopus 로고
    • Genetic determinants of ulcerative colitis include the ECM1 locus and five loci implicated in Crohn's disease
    • Fisher SA, Tremelling M, Anderson CA etal. 2008. Genetic determinants of ulcerative colitis include the ECM1 locus and five loci implicated in Crohn's disease. Nat Genet 40:710-712.
    • (2008) Nat Genet , vol.40 , pp. 710-712
    • Fisher, S.A.1    Tremelling, M.2    Anderson, C.A.3
  • 23
    • 31544473800 scopus 로고    scopus 로고
    • Biological and prognostic significance of chromosome 5q deletions in myeloid malignancies
    • Giagounidis AA, Germing U, Aul C. 2006. Biological and prognostic significance of chromosome 5q deletions in myeloid malignancies. Clin Cancer Res 12:5-10.
    • (2006) Clin Cancer Res , vol.12 , pp. 5-10
    • Giagounidis, A.A.1    Germing, U.2    Aul, C.3
  • 24
    • 84872862285 scopus 로고    scopus 로고
    • IRGM variants and susceptibility to inflammatory bowel disease in the German population
    • Glas J, Seiderer J, Bues S etal. 2013. IRGM variants and susceptibility to inflammatory bowel disease in the German population. PLoS One 8:e54338.
    • (2013) PLoS One , vol.8
    • Glas, J.1    Seiderer, J.2    Bues, S.3
  • 25
    • 84862908497 scopus 로고    scopus 로고
    • Recurrent somatic DICER1 mutations in nonepithelial ovarian cancers
    • Heravi-Moussavi A, Anglesio MS, Cheng SW etal. 2012. Recurrent somatic DICER1 mutations in nonepithelial ovarian cancers. N Engl J Med 366:234-242.
    • (2012) N Engl J Med , vol.366 , pp. 234-242
    • Heravi-Moussavi, A.1    Anglesio, M.S.2    Cheng, S.W.3
  • 26
    • 67749129007 scopus 로고    scopus 로고
    • DICER1 mutations in familial pleuropulmonary blastoma
    • Hill DA, Ivanovich J, Priest JR etal. 2009. DICER1 mutations in familial pleuropulmonary blastoma. Science 325:965.
    • (2009) Science , vol.325 , pp. 965
    • Hill, D.A.1    Ivanovich, J.2    Priest, J.R.3
  • 27
    • 46749147615 scopus 로고    scopus 로고
    • Genetic variants of miRNA sequences and non-small cell lung cancer survival
    • Hu Z, Chen J, Tian T etal. 2008. Genetic variants of miRNA sequences and non-small cell lung cancer survival. J Clin Invest 118:2600-2608.
    • (2008) J Clin Invest , vol.118 , pp. 2600-2608
    • Hu, Z.1    Chen, J.2    Tian, T.3
  • 28
    • 58349104128 scopus 로고    scopus 로고
    • Common genetic variants in pre-microRNAs were associated with increased risk of breast cancer in Chinese women
    • Hu Z, Liang J, Wang Z etal. 2009. Common genetic variants in pre-microRNAs were associated with increased risk of breast cancer in Chinese women. Hum Mutat 30:79-84.
    • (2009) Hum Mutat , vol.30 , pp. 79-84
    • Hu, Z.1    Liang, J.2    Wang, Z.3
  • 29
    • 80955145750 scopus 로고    scopus 로고
    • Mutation altering the miR-184 seed region causes familial keratoconus with cataract
    • Hughes AE, Bradley DT, Campbell M etal. 2011. Mutation altering the miR-184 seed region causes familial keratoconus with cataract. Am J Hum Genet 89:628-633.
    • (2011) Am J Hum Genet , vol.89 , pp. 628-633
    • Hughes, A.E.1    Bradley, D.T.2    Campbell, M.3
  • 30
    • 84859241050 scopus 로고    scopus 로고
    • A single-base substitution in the seed region of miR-184 causes EDICT syndrome
    • Iliff BW, Riazuddin SA, Gottsch JD. 2012. A single-base substitution in the seed region of miR-184 causes EDICT syndrome. Invest Ophthalmol Vis Sci 53:348-353.
    • (2012) Invest Ophthalmol Vis Sci , vol.53 , pp. 348-353
    • Iliff, B.W.1    Riazuddin, S.A.2    Gottsch, J.D.3
  • 31
    • 78650300755 scopus 로고    scopus 로고
    • miRNeye: a microRNA expression atlas of the mouse eye
    • Karali M, Peluso I, Gennarino VA etal. 2010. miRNeye: a microRNA expression atlas of the mouse eye. BMC Genomics 11:715.
    • (2010) BMC Genomics , vol.11 , pp. 715
    • Karali, M.1    Peluso, I.2    Gennarino, V.A.3
  • 32
    • 84857772495 scopus 로고    scopus 로고
    • TDP-43 promotes microRNA biogenesis as a component of the Drosha and Dicer complexes
    • Kawahara Y, Mieda-Sato A. 2012. TDP-43 promotes microRNA biogenesis as a component of the Drosha and Dicer complexes. Proc Natl Acad Sci U S A 109:3347-3352.
    • (2012) Proc Natl Acad Sci U S A , vol.109 , pp. 3347-3352
    • Kawahara, Y.1    Mieda-Sato, A.2
  • 33
    • 33750444633 scopus 로고    scopus 로고
    • Overrepresentation of rare variants in a specific ethnic group may confuse interpretation of association analyses
    • Keen-Kim D, Mathews CA, Reus VI etal. 2006. Overrepresentation of rare variants in a specific ethnic group may confuse interpretation of association analyses. Hum Mol Genet 15:3324-3328.
    • (2006) Hum Mol Genet , vol.15 , pp. 3324-3328
    • Keen-Kim, D.1    Mathews, C.A.2    Reus, V.I.3
  • 34
    • 73649116987 scopus 로고    scopus 로고
    • The DLEU2/miR-15a/16-1 cluster controls B cell proliferation and its deletion leads to chronic lymphocytic leukemia
    • Klein U, Lia M, Crespo M etal. 2010. The DLEU2/miR-15a/16-1 cluster controls B cell proliferation and its deletion leads to chronic lymphocytic leukemia. Cancer Cell 17:28-40.
    • (2010) Cancer Cell , vol.17 , pp. 28-40
    • Klein, U.1    Lia, M.2    Crespo, M.3
  • 35
    • 35348822545 scopus 로고    scopus 로고
    • Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11.2 deletion syndromes
    • Kobrynski LJ, Sullivan KE. 2007. Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11.2 deletion syndromes. Lancet 370:1443-1452.
    • (2007) Lancet , vol.370 , pp. 1443-1452
    • Kobrynski, L.J.1    Sullivan, K.E.2
  • 36
    • 77950467511 scopus 로고    scopus 로고
    • MicroRNA expression in human airway smooth muscle cells: role of miR-25 in regulation of airway smooth muscle phenotype
    • Kuhn AR, Schlauch K, Lao R, Halayko AJ, Gerthoffer WT, Singer CA. 2010. MicroRNA expression in human airway smooth muscle cells: role of miR-25 in regulation of airway smooth muscle phenotype. Am J Respir Cell Mol Biol 42:506-513.
    • (2010) Am J Respir Cell Mol Biol , vol.42 , pp. 506-513
    • Kuhn, A.R.1    Schlauch, K.2    Lao, R.3    Halayko, A.J.4    Gerthoffer, W.T.5    Singer, C.A.6
  • 37
    • 72549115018 scopus 로고    scopus 로고
    • Dicer1 functions as a haploinsufficient tumor suppressor
    • Kumar MS, Pester RE, Chen CY etal. 2009. Dicer1 functions as a haploinsufficient tumor suppressor. Genes Dev 23:2700-2704.
    • (2009) Genes Dev , vol.23 , pp. 2700-2704
    • Kumar, M.S.1    Pester, R.E.2    Chen, C.Y.3
  • 38
    • 80055071687 scopus 로고    scopus 로고
    • Coordinate loss of a microRNA and protein-coding gene cooperate in the pathogenesis of 5q- syndrome
    • Kumar MS, Narla A, Nonami A etal. 2011. Coordinate loss of a microRNA and protein-coding gene cooperate in the pathogenesis of 5q- syndrome. Blood 118:4666-4673.
    • (2011) Blood , vol.118 , pp. 4666-4673
    • Kumar, M.S.1    Narla, A.2    Nonami, A.3
  • 39
    • 77949541928 scopus 로고    scopus 로고
    • Monoallelic but not biallelic loss of Dicer1 promotes tumorigenesis in vivo
    • Lambertz I, Nittner D, Mestdagh P etal. 2010. Monoallelic but not biallelic loss of Dicer1 promotes tumorigenesis in vivo. Cell Death Differ 17:633-641.
    • (2010) Cell Death Differ , vol.17 , pp. 633-641
    • Lambertz, I.1    Nittner, D.2    Mestdagh, P.3
  • 40
    • 84995280088 scopus 로고    scopus 로고
    • Mutational analysis of MIR184 in sporadic keratoconus and myopia
    • Lechner J, Bae HA, Guduric-Fuchs J etal. 2013. Mutational analysis of MIR184 in sporadic keratoconus and myopia. Invest Ophthalmol Vis Sci 54:5266-5272.
    • (2013) Invest Ophthalmol Vis Sci , vol.54 , pp. 5266-5272
    • Lechner, J.1    Bae, H.A.2    Guduric-Fuchs, J.3
  • 41
    • 67349132265 scopus 로고    scopus 로고
    • An ENU-induced mutation of miR-96 associated with progressive hearing loss in mice
    • Lewis MA, Quint E, Glazier AM etal. 2009. An ENU-induced mutation of miR-96 associated with progressive hearing loss in mice. Nat Genet 41:614-618.
    • (2009) Nat Genet , vol.41 , pp. 614-618
    • Lewis, M.A.1    Quint, E.2    Glazier, A.M.3
  • 42
    • 77749341687 scopus 로고    scopus 로고
    • MicroRNA-183 family members regulate sensorineural fates in the inner ear
    • Li H, Kloosterman W, Fekete DM. 2010. MicroRNA-183 family members regulate sensorineural fates in the inner ear. J Neurosci 30:3254-3263.
    • (2010) J Neurosci , vol.30 , pp. 3254-3263
    • Li, H.1    Kloosterman, W.2    Fekete, D.M.3
  • 43
    • 13944282215 scopus 로고    scopus 로고
    • Microarray analysis shows that some microRNAs downregulate large numbers of target mRNAs
    • Lim LP, Lau NC, Garrett-Engele P etal. 2005. Microarray analysis shows that some microRNAs downregulate large numbers of target mRNAs. Nature 433:769-773.
    • (2005) Nature , vol.433 , pp. 769-773
    • Lim, L.P.1    Lau, N.C.2    Garrett-Engele, P.3
  • 44
    • 78349281879 scopus 로고    scopus 로고
    • Genetic variants in selected pre-microRNA genes and the risk of squamous cell carcinoma of the head and neck
    • Liu Z, Li G, Wei S etal. 2010. Genetic variants in selected pre-microRNA genes and the risk of squamous cell carcinoma of the head and neck. Cancer 116:4753-4760.
    • (2010) Cancer , vol.116 , pp. 4753-4760
    • Liu, Z.1    Li, G.2    Wei, S.3
  • 45
    • 51649103583 scopus 로고    scopus 로고
    • Genotype-phenotype correlations in MYCN-related Feingold syndrome
    • Marcelis CL, Hol FA, Graham GE etal. 2008. Genotype-phenotype correlations in MYCN-related Feingold syndrome. Hum Mutat 29:1125-1132.
    • (2008) Hum Mutat , vol.29 , pp. 1125-1132
    • Marcelis, C.L.1    Hol, F.A.2    Graham, G.E.3
  • 46
    • 84880770209 scopus 로고    scopus 로고
    • Circulating p53-responsive microRNAs are predictive indicators of heart failure after acute myocardial infarction
    • Matsumoto S, Sakata Y, Suna S etal. 2013. Circulating p53-responsive microRNAs are predictive indicators of heart failure after acute myocardial infarction. Circ Res 113:322-326.
    • (2013) Circ Res , vol.113 , pp. 322-326
    • Matsumoto, S.1    Sakata, Y.2    Suna, S.3
  • 47
    • 50449091647 scopus 로고    scopus 로고
    • Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn's disease
    • McCarroll SA, Huett A, Kuballa P etal. 2008. Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn's disease. Nat Genet 40:1107-1112.
    • (2008) Nat Genet , vol.40 , pp. 1107-1112
    • McCarroll, S.A.1    Huett, A.2    Kuballa, P.3
  • 48
    • 77957940475 scopus 로고    scopus 로고
    • A genetic defect in exportin-5 traps precursor microRNAs in the nucleus of cancer cells
    • Melo SA, Moutinho C, Ropero S etal. 2010. A genetic defect in exportin-5 traps precursor microRNAs in the nucleus of cancer cells. Cancer Cell 18:303-315.
    • (2010) Cancer Cell , vol.18 , pp. 303-315
    • Melo, S.A.1    Moutinho, C.2    Ropero, S.3
  • 49
    • 61349127117 scopus 로고    scopus 로고
    • A TARBP2 mutation in human cancer impairs microRNA processing and DICER1 function
    • Melo SA, Ropero S, Moutinho C etal. 2009. A TARBP2 mutation in human cancer impairs microRNA processing and DICER1 function. Nat Genet 41:365-370.
    • (2009) Nat Genet , vol.41 , pp. 365-370
    • Melo, S.A.1    Ropero, S.2    Moutinho, C.3
  • 50
    • 67349223927 scopus 로고    scopus 로고
    • Mutations in the seed region of human miR-96 are responsible for nonsyndromic progressive hearing loss
    • Mencia A, Modamio-Hoybjor S, Redshaw N etal. 2009. Mutations in the seed region of human miR-96 are responsible for nonsyndromic progressive hearing loss. Nat Genet 41:609-613.
    • (2009) Nat Genet , vol.41 , pp. 609-613
    • Mencia, A.1    Modamio-Hoybjor, S.2    Redshaw, N.3
  • 51
    • 84857563110 scopus 로고    scopus 로고
    • Clinical and molecular characterization of diffuse large B-cell lymphomas with 13q14.3 deletion
    • Mian M, Scandurra M, Chigrinova E etal. 2012. Clinical and molecular characterization of diffuse large B-cell lymphomas with 13q14.3 deletion. Ann Oncol 23:729-735.
    • (2012) Ann Oncol , vol.23 , pp. 729-735
    • Mian, M.1    Scandurra, M.2    Chigrinova, E.3
  • 52
    • 0035312968 scopus 로고    scopus 로고
    • Nucleotide sequence, transcription map, and mutation analysis of the 13q14 chromosomal region deleted in B-cell chronic lymphocytic leukemia
    • Migliazza A, Bosch F, Komatsu H etal. 2001. Nucleotide sequence, transcription map, and mutation analysis of the 13q14 chromosomal region deleted in B-cell chronic lymphocytic leukemia. Blood 97:2098-2104.
    • (2001) Blood , vol.97 , pp. 2098-2104
    • Migliazza, A.1    Bosch, F.2    Komatsu, H.3
  • 53
    • 48749122914 scopus 로고    scopus 로고
    • Circulating microRNAs as stable blood-based markers for cancer detection
    • Mitchell PS, Parkin RK, Kroh EM etal. 2008. Circulating microRNAs as stable blood-based markers for cancer detection. Proc Natl Acad Sci U S A 105:10513-10518.
    • (2008) Proc Natl Acad Sci U S A , vol.105 , pp. 10513-10518
    • Mitchell, P.S.1    Parkin, R.K.2    Kroh, E.M.3
  • 54
    • 69449103973 scopus 로고    scopus 로고
    • MicroRNA-140 is expressed in differentiated human articular chondrocytes and modulates interleukin-1 responses
    • Miyaki S, Nakasa T, Otsuki S etal. 2009. MicroRNA-140 is expressed in differentiated human articular chondrocytes and modulates interleukin-1 responses. Arthritis Rheum 60:2723-2730.
    • (2009) Arthritis Rheum , vol.60 , pp. 2723-2730
    • Miyaki, S.1    Nakasa, T.2    Otsuki, S.3
  • 55
    • 77952515610 scopus 로고    scopus 로고
    • Independent and population-specific association of risk variants at the IRGM locus with Crohn's disease
    • Prescott NJ, Dominy KM, Kubo M etal. 2010. Independent and population-specific association of risk variants at the IRGM locus with Crohn's disease. Hum Mol Genet 19:1828-1839.
    • (2010) Hum Mol Genet , vol.19 , pp. 1828-1839
    • Prescott, N.J.1    Dominy, K.M.2    Kubo, M.3
  • 56
    • 34250013672 scopus 로고    scopus 로고
    • Abnormal microRNA-16 locus with synteny to human 13q14 linked to CLL in NZB mice
    • Raveche ES, Salerno E, Scaglione BJ etal. 2007. Abnormal microRNA-16 locus with synteny to human 13q14 linked to CLL in NZB mice. Blood 109:5079-5086.
    • (2007) Blood , vol.109 , pp. 5079-5086
    • Raveche, E.S.1    Salerno, E.2    Scaglione, B.J.3
  • 57
    • 33750404987 scopus 로고    scopus 로고
    • MicroRNAs of the mammalian eye display distinct and overlapping tissue specificity
    • Ryan DG, Oliveira-Fernandes M, Lavker RM. 2006. MicroRNAs of the mammalian eye display distinct and overlapping tissue specificity. Mol Vis 12:1175-1184.
    • (2006) Mol Vis , vol.12 , pp. 1175-1184
    • Ryan, D.G.1    Oliveira-Fernandes, M.2    Lavker, R.M.3
  • 59
    • 80052263198 scopus 로고    scopus 로고
    • miR-124a is required for hippocampal axogenesis and retinal cone survival through Lhx2 suppression
    • Sanuki R, Onishi A, Koike C etal. 2011. miR-124a is required for hippocampal axogenesis and retinal cone survival through Lhx2 suppression. Nat Neurosci 14:1125-1134.
    • (2011) Nat Neurosci , vol.14 , pp. 1125-1134
    • Sanuki, R.1    Onishi, A.2    Koike, C.3
  • 60
    • 79953278448 scopus 로고    scopus 로고
    • Monoallelic deletion of the microRNA biogenesis gene Dgcr8 produces deficits in the development of excitatory synaptic transmission in the prefrontal cortex
    • Schofield CM, Hsu R, Barker AJ, Gertz CC, Blelloch R, Ullian EM. 2011. Monoallelic deletion of the microRNA biogenesis gene Dgcr8 produces deficits in the development of excitatory synaptic transmission in the prefrontal cortex. Neural Dev 6:11.
    • (2011) Neural Dev , vol.6 , pp. 11
    • Schofield, C.M.1    Hsu, R.2    Barker, A.J.3    Gertz, C.C.4    Blelloch, R.5    Ullian, E.M.6
  • 61
    • 31144479591 scopus 로고    scopus 로고
    • A brain-specific microRNA regulates dendritic spine development
    • Schratt GM, Tuebing F, Nigh EA etal. 2006. A brain-specific microRNA regulates dendritic spine development. Nature 439:283-289.
    • (2006) Nature , vol.439 , pp. 283-289
    • Schratt, G.M.1    Tuebing, F.2    Nigh, E.A.3
  • 62
    • 52949119537 scopus 로고    scopus 로고
    • MicroRNA target site polymorphisms and human disease
    • Sethupathy P, Collins FS. 2008. MicroRNA target site polymorphisms and human disease. Trends Genet 24:489-497.
    • (2008) Trends Genet , vol.24 , pp. 489-497
    • Sethupathy, P.1    Collins, F.S.2
  • 63
    • 79952267171 scopus 로고    scopus 로고
    • MicroRNA-9 regulates neurogenesis in mouse telencephalon by targeting multiple transcription factors
    • Shibata M, Nakao H, Kiyonari H, Abe T, Aizawa S. 2011. MicroRNA-9 regulates neurogenesis in mouse telencephalon by targeting multiple transcription factors. J Neurosci 31:3407-3422.
    • (2011) J Neurosci , vol.31 , pp. 3407-3422
    • Shibata, M.1    Nakao, H.2    Kiyonari, H.3    Abe, T.4    Aizawa, S.5
  • 64
    • 77952505302 scopus 로고    scopus 로고
    • A mutation in the 3'-UTR of the HDAC6 gene abolishing the post-transcriptional regulation mediated by hsa-miR-433 is linked to a new form of dominant X-linked chondrodysplasia
    • Simon D, Laloo B, Barillot M etal. 2010. A mutation in the 3'-UTR of the HDAC6 gene abolishing the post-transcriptional regulation mediated by hsa-miR-433 is linked to a new form of dominant X-linked chondrodysplasia. Hum Mol Genet 19:2015-2027.
    • (2010) Hum Mol Genet , vol.19 , pp. 2015-2027
    • Simon, D.1    Laloo, B.2    Barillot, M.3
  • 65
    • 77951964981 scopus 로고    scopus 로고
    • Posttranscriptional regulation of microRNA biogenesis in animals
    • Siomi H, Siomi MC. 2010. Posttranscriptional regulation of microRNA biogenesis in animals. Mol Cell 38:323-332.
    • (2010) Mol Cell , vol.38 , pp. 323-332
    • Siomi, H.1    Siomi, M.C.2
  • 66
    • 57049103401 scopus 로고    scopus 로고
    • Glioblastoma microvesicles transport RNA and proteins that promote tumour growth and provide diagnostic biomarkers
    • Skog J, Wurdinger T, van Rijn S etal. 2008. Glioblastoma microvesicles transport RNA and proteins that promote tumour growth and provide diagnostic biomarkers. Nat Cell Biol 10:1470-1476.
    • (2008) Nat Cell Biol , vol.10 , pp. 1470-1476
    • Skog, J.1    Wurdinger, T.2    van Rijn, S.3
  • 67
    • 79953699619 scopus 로고    scopus 로고
    • DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome
    • Slade I, Bacchelli C, Davies H etal. 2011. DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome. J Med Genet 48:273-278.
    • (2011) J Med Genet , vol.48 , pp. 273-278
    • Slade, I.1    Bacchelli, C.2    Davies, H.3
  • 68
    • 84856078759 scopus 로고    scopus 로고
    • A novel mutation within the MIR96 gene causes non-syndromic inherited hearing loss in an Italian family by altering pre-miRNA processing
    • Solda G, Robusto M, Primignani P etal. 2012. A novel mutation within the MIR96 gene causes non-syndromic inherited hearing loss in an Italian family by altering pre-miRNA processing. Hum Mol Genet 21:577-585.
    • (2012) Hum Mol Genet , vol.21 , pp. 577-585
    • Solda, G.1    Robusto, M.2    Primignani, P.3
  • 69
    • 73849121794 scopus 로고    scopus 로고
    • Identification of miR-145 and miR-146a as mediators of the 5q- syndrome phenotype
    • Starczynowski DT, Kuchenbauer F, Argiropoulos B etal. 2010. Identification of miR-145 and miR-146a as mediators of the 5q- syndrome phenotype. Nat Med 16:49-58.
    • (2010) Nat Med , vol.16 , pp. 49-58
    • Starczynowski, D.T.1    Kuchenbauer, F.2    Argiropoulos, B.3
  • 70
    • 43949124669 scopus 로고    scopus 로고
    • Altered brain microRNA biogenesis contributes to phenotypic deficits in a 22q11-deletion mouse model
    • Stark KL, Xu B, Bagchi A etal. 2008. Altered brain microRNA biogenesis contributes to phenotypic deficits in a 22q11-deletion mouse model. Nat Genet 40:751-760.
    • (2008) Nat Genet , vol.40 , pp. 751-760
    • Stark, K.L.1    Xu, B.2    Bagchi, A.3
  • 71
    • 67349208210 scopus 로고    scopus 로고
    • Chromosome 8p as a potential hub for developmental neuropsychiatric disorders: implications for schizophrenia, autism and cancer
    • Tabares-Seisdedos R, Rubenstein JL. 2009. Chromosome 8p as a potential hub for developmental neuropsychiatric disorders: implications for schizophrenia, autism and cancer. Mol Psychiatry 14:563-589.
    • (2009) Mol Psychiatry , vol.14 , pp. 563-589
    • Tabares-Seisdedos, R.1    Rubenstein, J.L.2
  • 72
    • 84875495957 scopus 로고    scopus 로고
    • De novo 13q31.1-q32.1 interstitial deletion encompassing the miR-17-92 cluster in a patient with Feingold syndrome-2
    • Tassano E, Di Rocco M, Signa S, Gimelli G. 2013. De novo 13q31.1-q32.1 interstitial deletion encompassing the miR-17-92 cluster in a patient with Feingold syndrome-2. Am J Med Genet A 161A:894-896.
    • (2013) Am J Med Genet A , vol.161 A , pp. 894-896
    • Tassano, E.1    Di Rocco, M.2    Signa, S.3    Gimelli, G.4
  • 74
    • 20944433656 scopus 로고    scopus 로고
    • MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome
    • van Bokhoven H, Celli J, van Reeuwijk J etal. 2005. MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome. Nat Genet 37:465-467.
    • (2005) Nat Genet , vol.37 , pp. 465-467
    • van Bokhoven, H.1    Celli, J.2    van Reeuwijk, J.3
  • 75
    • 46849086004 scopus 로고    scopus 로고
    • Genome-wide analysis of copy number changes and loss of heterozygosity in myelodysplastic syndrome with del(5q) using high-density single nucleotide polymorphism arrays
    • Wang L, Fidler C, Nadig N etal. 2008. Genome-wide analysis of copy number changes and loss of heterozygosity in myelodysplastic syndrome with del(5q) using high-density single nucleotide polymorphism arrays. Haematologica 93:994-1000.
    • (2008) Haematologica , vol.93 , pp. 994-1000
    • Wang, L.1    Fidler, C.2    Nadig, N.3
  • 76
    • 84884579577 scopus 로고    scopus 로고
    • An A/G polymorphism rs3746444 in miR-499 is associated with increased cancer risk: a meta-analysis
    • Wang N, Tian ZQ, Li Y, Zhou RM, Wang GY. 2013. An A/G polymorphism rs3746444 in miR-499 is associated with increased cancer risk: a meta-analysis. Genet Mol Res 12:3955-3964.
    • (2013) Genet Mol Res , vol.12 , pp. 3955-3964
    • Wang, N.1    Tian, Z.Q.2    Li, Y.3    Zhou, R.M.4    Wang, G.Y.5
  • 77
    • 33847323881 scopus 로고    scopus 로고
    • DGCR8 is essential for microRNA biogenesis and silencing of embryonic stem cell self-renewal
    • Wang Y, Medvid R, Melton C, Jaenisch R, Blelloch R. 2007. DGCR8 is essential for microRNA biogenesis and silencing of embryonic stem cell self-renewal. Nat Genet 39:380-385.
    • (2007) Nat Genet , vol.39 , pp. 380-385
    • Wang, Y.1    Medvid, R.2    Melton, C.3    Jaenisch, R.4    Blelloch, R.5
  • 78
    • 84875033024 scopus 로고    scopus 로고
    • Comprehensive profiling of circulating microRNA via small RNA sequencing of cDNA libraries reveals biomarker potential and limitations
    • Williams Z, Ben-Dov IZ, Elias R etal. 2013. Comprehensive profiling of circulating microRNA via small RNA sequencing of cDNA libraries reveals biomarker potential and limitations. Proc Natl Acad Sci U S A 110:4255-4260.
    • (2013) Proc Natl Acad Sci U S A , vol.110 , pp. 4255-4260
    • Williams, Z.1    Ben-Dov, I.Z.2    Elias, R.3
  • 79
    • 84887836206 scopus 로고    scopus 로고
    • DICER1 hotspot mutations in non-epithelial gonadal tumours
    • Witkowski L, Mattina J, Schonberger S etal. 2013. DICER1 hotspot mutations in non-epithelial gonadal tumours. Br J Cancer 109:2744-2750.
    • (2013) Br J Cancer , vol.109 , pp. 2744-2750
    • Witkowski, L.1    Mattina, J.2    Schonberger, S.3
  • 80
    • 84864285427 scopus 로고    scopus 로고
    • Association of the microRNA-499 variants with susceptibility to hepatocellular carcinoma in a Chinese population
    • Xiang Y, Fan S, Cao J, Huang S, Zhang LP. 2012. Association of the microRNA-499 variants with susceptibility to hepatocellular carcinoma in a Chinese population. Mol Biol Rep 39:7019-7023.
    • (2012) Mol Biol Rep , vol.39 , pp. 7019-7023
    • Xiang, Y.1    Fan, S.2    Cao, J.3    Huang, S.4    Zhang, L.P.5
  • 81
    • 84863418983 scopus 로고    scopus 로고
    • Chromosome 4q deletion syndrome: narrowing the cardiovascular critical region to 4q32.2-q34.3
    • Xu W, Ahmad A, Dagenais S, Iyer RK, Innis JW. 2012. Chromosome 4q deletion syndrome: narrowing the cardiovascular critical region to 4q32.2-q34.3. Am J Med Genet A 158A:635-640.
    • (2012) Am J Med Genet A , vol.158 A , pp. 635-640
    • Xu, W.1    Ahmad, A.2    Dagenais, S.3    Iyer, R.K.4    Innis, J.W.5
  • 82
    • 84876869205 scopus 로고    scopus 로고
    • Sequence analysis of SLITRK1 for var321 in Danish patients with Tourette syndrome and review of the literature
    • Yasmeen S, Melchior L, Bertelsen B, Skov L, Mol Debes N, Tumer Z. 2013. Sequence analysis of SLITRK1 for var321 in Danish patients with Tourette syndrome and review of the literature. Psychiatr Genet 23:130-133.
    • (2013) Psychiatr Genet , vol.23 , pp. 130-133
    • Yasmeen, S.1    Melchior, L.2    Bertelsen, B.3    Skov, L.4    Mol Debes, N.5    Tumer, Z.6
  • 83
    • 22444437609 scopus 로고    scopus 로고
    • Serum response factor regulates a muscle-specific microRNA that targets Hand2 during cardiogenesis
    • Zhao Y, Samal E, Srivastava D. 2005. Serum response factor regulates a muscle-specific microRNA that targets Hand2 during cardiogenesis. Nature 436:214-220.
    • (2005) Nature , vol.436 , pp. 214-220
    • Zhao, Y.1    Samal, E.2    Srivastava, D.3
  • 84
    • 34147153781 scopus 로고    scopus 로고
    • Dysregulation of cardiogenesis, cardiac conduction, and cell cycle in mice lacking miRNA-1-2
    • Zhao Y, Ransom JF, Li A etal. 2007. Dysregulation of cardiogenesis, cardiac conduction, and cell cycle in mice lacking miRNA-1-2. Cell 129:303-317.
    • (2007) Cell , vol.129 , pp. 303-317
    • Zhao, Y.1    Ransom, J.F.2    Li, A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.