Published in Pathogenetics on November 04, 2009
Mutation altering the miR-184 seed region causes familial keratoconus with cataract. Am J Hum Genet (2011) 2.33
miRNeye: a microRNA expression atlas of the mouse eye. BMC Genomics (2010) 1.59
Dicer regulates the development of nephrogenic and ureteric compartments in the mammalian kidney. Kidney Int (2010) 1.54
A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease. Am J Hum Genet (2016) 1.52
Identification of microRNA-regulated gene networks by expression analysis of target genes. Genome Res (2012) 1.51
miR-204 is required for lens and retinal development via Meis2 targeting. Proc Natl Acad Sci U S A (2010) 1.48
miR-520c and miR-373 upregulate MMP9 expression by targeting mTOR and SIRT1, and activate the Ras/Raf/MEK/Erk signaling pathway and NF-κB factor in human fibrosarcoma cells. J Cell Physiol (2012) 1.29
Aberrant hypermethylation of miR-9 genes in gastric cancer. Epigenetics (2011) 1.29
Genetic advances in sarcomeric cardiomyopathies: state of the art. Cardiovasc Res (2015) 1.19
Pharmacogenomics of the RNA world: structural RNA polymorphisms in drug therapy. Clin Pharmacol Ther (2011) 1.15
The expression levels of microRNA-361-5p and its target VEGFA are inversely correlated in human cutaneous squamous cell carcinoma. PLoS One (2012) 1.04
Integrating sequence, expression and interaction data to determine condition-specific miRNA regulation. Bioinformatics (2013) 0.97
MicroRNA Expression Profiling in Clear Cell Renal Cell Carcinoma: Identification and Functional Validation of Key miRNAs. PLoS One (2015) 0.97
HOCTAR database: a unique resource for microRNA target prediction. Gene (2011) 0.96
HGIMDA: Heterogeneous graph inference for miRNA-disease association prediction. Oncotarget (2016) 0.95
MicroRNAs as the cause of schizophrenia in 22q11.2 deletion carriers, and possible implications for idiopathic disease: a mini-review. Front Mol Neurosci (2013) 0.93
Human SP-A1 (SFTPA1) variant-specific 3' UTRs and poly(A) tail differentially affect the in vitro translation of a reporter gene. Am J Physiol Lung Cell Mol Physiol (2010) 0.91
Cis-acting polymorphisms affect complex traits through modifications of microRNA regulation pathways. PLoS One (2012) 0.91
Role of calcium, vitamin D, and the extrarenal vitamin D hydroxylases in carcinogenesis. Anticancer Agents Med Chem (2013) 0.90
Non-coding RNAs in the development of sensory organs and related diseases. Cell Mol Life Sci (2013) 0.88
The combination of transcriptomics and informatics identifies pathways targeted by miR-204 during neurogenesis and axon guidance. Nucleic Acids Res (2014) 0.88
Genome-wide analysis implicates microRNAs and their target genes in the development of bipolar disorder. Transl Psychiatry (2015) 0.87
Sizing up the future of microRNA analysis. Anal Bioanal Chem (2010) 0.84
Candidate disease gene prediction using Gentrepid: application to a genome-wide association study on coronary artery disease. Mol Genet Genomic Med (2013) 0.81
Novel therapeutics for coronary artery disease from genome-wide association study data. BMC Med Genomics (2015) 0.79
Gentrepid V2.0: a web server for candidate disease gene prediction. BMC Bioinformatics (2013) 0.79
Cell-Free miR-27a, a Potential Diagnostic and Prognostic Biomarker for Gastric Cancer. Genomics Inform (2015) 0.79
High-resolution analysis of the human retina miRNome reveals isomiR variations and novel microRNAs. Nucleic Acids Res (2016) 0.79
Circulating miRNAs profiles in tourette syndrome: molecular data and clinical implications. Mol Brain (2015) 0.78
Screening of the Seed Region of MIR184 in Keratoconus Patients from Saudi Arabia. Biomed Res Int (2015) 0.78
MicroRNA-30d and microRNA-181a regulate HOXA11 expression in the uterosacral ligaments and are overexpressed in pelvic organ prolapse. J Cell Mol Med (2015) 0.77
An Integrating Approach for Genome-Wide Screening of MicroRNA Polymorphisms Mediated Drug Response Alterations. Int J Genomics (2017) 0.75
MicroRNAs in Palatogenesis and Cleft Palate. Front Physiol (2017) 0.75
MiR-223-5p works as an oncomiR in vulvar carcinoma by TP63 suppression. Oncotarget (2016) 0.75
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RESA identifies mRNA-regulatory sequences at high resolution. Nat Methods (2016) 0.75
MicroRNAs: genomics, biogenesis, mechanism, and function. Cell (2004) 198.59
RNA-Seq: a revolutionary tool for transcriptomics. Nat Rev Genet (2009) 58.77
Combinatorial microRNA target predictions. Nat Genet (2005) 50.48
Microarray analysis shows that some microRNAs downregulate large numbers of target mRNAs. Nature (2005) 48.95
miRBase: tools for microRNA genomics. Nucleic Acids Res (2007) 38.61
The nuclear RNase III Drosha initiates microRNA processing. Nature (2003) 35.49
Identification of tissue-specific microRNAs from mouse. Curr Biol (2002) 34.55
The impact of microRNAs on protein output. Nature (2008) 32.39
Mechanisms of post-transcriptional regulation by microRNAs: are the answers in sight? Nat Rev Genet (2008) 32.08
Widespread changes in protein synthesis induced by microRNAs. Nature (2008) 31.44
Biogenesis of small RNAs in animals. Nat Rev Mol Cell Biol (2009) 19.99
MicroRNA biogenesis: coordinated cropping and dicing. Nat Rev Mol Cell Biol (2005) 18.94
The Microprocessor complex mediates the genesis of microRNAs. Nature (2004) 17.70
Nuclear export of microRNA precursors. Science (2003) 16.59
Requirement of bic/microRNA-155 for normal immune function. Science (2007) 16.24
Regulation by let-7 and lin-4 miRNAs results in target mRNA degradation. Cell (2005) 15.26
Identification of mammalian microRNA host genes and transcription units. Genome Res (2004) 14.63
Processing of primary microRNAs by the Microprocessor complex. Nature (2004) 14.59
Microarray profiling of microRNAs reveals frequent coexpression with neighboring miRNAs and host genes. RNA (2005) 14.14
Dysregulation of cardiogenesis, cardiac conduction, and cell cycle in mice lacking miRNA-1-2. Cell (2007) 12.72
Targeted deletion reveals essential and overlapping functions of the miR-17 through 92 family of miRNA clusters. Cell (2008) 12.29
Regulation of the germinal center response by microRNA-155. Science (2007) 12.25
The Human Gene Mutation Database: 2008 update. Genome Med (2009) 11.72
MicroRNA-133 controls cardiac hypertrophy. Nat Med (2007) 11.68
Lymphoproliferative disease and autoimmunity in mice with increased miR-17-92 expression in lymphocytes. Nat Immunol (2008) 10.42
A brain-specific microRNA regulates dendritic spine development. Nature (2006) 10.18
Discovering microRNAs from deep sequencing data using miRDeep. Nat Biotechnol (2008) 10.17
A signature pattern of stress-responsive microRNAs that can evoke cardiac hypertrophy and heart failure. Proc Natl Acad Sci U S A (2006) 10.09
DGCR8 is essential for microRNA biogenesis and silencing of embryonic stem cell self-renewal. Nat Genet (2007) 9.25
Regulation of progenitor cell proliferation and granulocyte function by microRNA-223. Nature (2008) 8.69
A mutation creating a potential illegitimate microRNA target site in the myostatin gene affects muscularity in sheep. Nat Genet (2006) 8.37
The RNaseIII enzyme Dicer is required for morphogenesis but not patterning of the vertebrate limb. Proc Natl Acad Sci U S A (2005) 8.33
Exportin 5 is a RanGTP-dependent dsRNA-binding protein that mediates nuclear export of pre-miRNAs. RNA (2004) 8.31
Sequence variants in SLITRK1 are associated with Tourette's syndrome. Science (2005) 8.20
MicroRNA expression signature and antisense-mediated depletion reveal an essential role of MicroRNA in vascular neointimal lesion formation. Circ Res (2007) 7.98
Genomics of microRNA. Trends Genet (2006) 7.75
Gene regulatory networks in the evolution and development of the heart. Science (2006) 7.67
Microarray analysis of microRNA expression in the developing mammalian brain. Genome Biol (2004) 7.33
Getting to the root of miRNA-mediated gene silencing. Cell (2008) 7.17
Aberrant T cell differentiation in the absence of Dicer. J Exp Med (2005) 6.58
MicroRNAs in the human heart: a clue to fetal gene reprogramming in heart failure. Circulation (2007) 6.41
Processing of intronic microRNAs. EMBO J (2007) 6.32
miR2Disease: a manually curated database for microRNA deregulation in human disease. Nucleic Acids Res (2008) 6.30
Mutations in NOTCH1 cause aortic valve disease. Nature (2005) 6.27
A role for Dicer in immune regulation. J Exp Med (2006) 5.81
The miR-15a-miR-16-1 cluster controls prostate cancer by targeting multiple oncogenic activities. Nat Med (2008) 5.74
Dicer ablation affects antibody diversity and cell survival in the B lymphocyte lineage. Cell (2008) 5.53
microRNA-133a regulates cardiomyocyte proliferation and suppresses smooth muscle gene expression in the heart. Genes Dev (2008) 5.39
MicroRNA target site polymorphisms and human disease. Trends Genet (2008) 5.32
miR-124 regulates adult neurogenesis in the subventricular zone stem cell niche. Nat Neurosci (2009) 5.27
A search for conserved sequences in coding regions reveals that the let-7 microRNA targets Dicer within its coding sequence. Proc Natl Acad Sci U S A (2008) 5.11
Probing microRNAs with microarrays: tissue specificity and functional inference. RNA (2004) 4.91
Dicer function is essential for lung epithelium morphogenesis. Proc Natl Acad Sci U S A (2006) 4.87
Clustering and conservation patterns of human microRNAs. Nucleic Acids Res (2005) 4.79
Mechanisms of microRNA-mediated gene regulation in animal cells. Trends Genet (2007) 4.73
Biochemical and genetic interaction between the fragile X mental retardation protein and the microRNA pathway. Nat Neurosci (2004) 4.69
Cerebellar neurodegeneration in the absence of microRNAs. J Exp Med (2007) 4.48
Single nucleotide polymorphism associated with mature miR-125a alters the processing of pri-miRNA. Hum Mol Genet (2007) 4.08
Polymorphic miRNA-mediated gene regulation: contribution to phenotypic variation and disease. Curr Opin Genet Dev (2007) 4.00
Targeted deletion of Dicer in the heart leads to dilated cardiomyopathy and heart failure. Proc Natl Acad Sci U S A (2008) 4.00
An activity-regulated microRNA controls dendritic plasticity by down-regulating p250GAP. Proc Natl Acad Sci U S A (2008) 3.98
Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications. Am J Hum Genet (1989) 3.81
A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11. Am J Hum Genet (1992) 3.73
Mutations in the seed region of human miR-96 are responsible for nonsyndromic progressive hearing loss. Nat Genet (2009) 3.72
Dicer-dependent microRNA pathway safeguards regulatory T cell function. J Exp Med (2008) 3.70
The miRNA-processing enzyme dicer is essential for the morphogenesis and maintenance of hair follicles. Curr Biol (2006) 3.64
MiRNAs and cancer. Am J Pathol (2009) 3.42
Let me count the ways: mechanisms of gene regulation by miRNAs and siRNAs. Mol Cell (2008) 3.41
The genetic basis for cardiac remodeling. Annu Rev Genomics Hum Genet (2005) 3.36
Conditional loss of Dicer disrupts cellular and tissue morphogenesis in the cortex and hippocampus. J Neurosci (2008) 3.33
Microdeletions in the human H19 DMR result in loss of IGF2 imprinting and Beckwith-Wiedemann syndrome. Nat Genet (2004) 3.32
siRNA and miRNA: an insight into RISCs. Trends Biochem Sci (2005) 3.25
Next is now: new technologies for sequencing of genomes, transcriptomes, and beyond. Curr Opin Plant Biol (2009) 3.18
MicroRNA expression in the adult mouse central nervous system. RNA (2008) 3.12
An ENU-induced mutation of miR-96 associated with progressive hearing loss in mice. Nat Genet (2009) 3.05
A deletion in chromosome 22 can cause DiGeorge syndrome. Hum Genet (1981) 3.04
The callipyge locus: evidence for the trans interaction of reciprocally imprinted genes. Trends Genet (2003) 2.99
Alterations of the microRNA network cause neurodegenerative disease. Trends Neurosci (2009) 2.96
Conditional dicer gene deletion in the postnatal myocardium provokes spontaneous cardiac remodeling. Circulation (2008) 2.95
Essential role for Dicer during skeletal muscle development. Dev Biol (2007) 2.76
MicroRNAs in disease and potential therapeutic applications. Mol Ther (2007) 2.73
Molecular mapping of twenty-four features of Down syndrome on chromosome 21. Eur J Hum Genet (1993) 2.73
MicroRNAs in vertebrate development. Curr Opin Genet Dev (2005) 2.71
Human microRNA-155 on chromosome 21 differentially interacts with its polymorphic target in the AGTR1 3' untranslated region: a mechanism for functional single-nucleotide polymorphisms related to phenotypes. Am J Hum Genet (2007) 2.62
The Hand1 and Hand2 transcription factors regulate expansion of the embryonic cardiac ventricles in a gene dosage-dependent manner. Development (2004) 2.61
miRNAs are essential for survival and differentiation of newborn neurons but not for expansion of neural progenitors during early neurogenesis in the mouse embryonic neocortex. Development (2008) 2.59
Dicer inactivation leads to progressive functional and structural degeneration of the mouse retina. J Neurosci (2008) 2.50
Why do miRNAs live in the miRNP? Genes Dev (2002) 2.41
Dicer loss in striatal neurons produces behavioral and neuroanatomical phenotypes in the absence of neurodegeneration. Proc Natl Acad Sci U S A (2008) 2.32
Mechanisms of microRNA deregulation in human cancer. Cell Cycle (2008) 2.30
A prospective cytogenetic study of 36 cases of DiGeorge syndrome. Am J Hum Genet (1992) 2.23
MicroRNA target prediction by expression analysis of host genes. Genome Res (2008) 2.21
Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31. Am J Hum Genet (2006) 2.00
Disruption of Dicer1 induces dysregulated fetal gene expression and promotes hepatocarcinogenesis. Gastroenterology (2009) 1.86
Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation. Ann Neurol (2006) 1.86
microRNA-138 modulates cardiac patterning during embryonic development. Proc Natl Acad Sci U S A (2008) 1.80
REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31. Brain (2008) 1.77
Molecular cloning and expression analysis of a novel gene DGCR8 located in the DiGeorge syndrome chromosomal region. Biochem Biophys Res Commun (2003) 1.77
Dicer1 is essential for female fertility and normal development of the female reproductive system. Endocrinology (2008) 1.71
Safety and efficacy of gene transfer for Leber's congenital amaurosis. N Engl J Med (2008) 17.21
A gene network regulating lysosomal biogenesis and function. Science (2009) 7.17
Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial. Lancet (2009) 6.71
A high-resolution anatomical atlas of the transcriptome in the mouse embryo. PLoS Biol (2011) 4.84
Human chromosome 21 gene expression atlas in the mouse. Nature (2002) 4.36
Gene therapy for Leber's congenital amaurosis is safe and effective through 1.5 years after vector administration. Mol Ther (2009) 3.93
Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients. Invest Ophthalmol Vis Sci (2007) 2.69
MicroRNA target prediction by expression analysis of host genes. Genome Res (2008) 2.21
UTRdb and UTRsite (RELEASE 2010): a collection of sequences and regulatory motifs of the untranslated regions of eukaryotic mRNAs. Nucleic Acids Res (2009) 2.11
Identification and characterization of microRNAs expressed in the mouse eye. Invest Ophthalmol Vis Sci (2007) 2.05
Three-year follow-up after unilateral subretinal delivery of adeno-associated virus in patients with Leber congenital Amaurosis type 2. Ophthalmology (2013) 1.85
Human-specific regulation of MeCP2 levels in fetal brains by microRNA miR-483-5p. Genes Dev (2013) 1.70
Development of a genotyping microarray for Usher syndrome. J Med Genet (2006) 1.63
miRNeye: a microRNA expression atlas of the mouse eye. BMC Genomics (2010) 1.59
Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinism. Am J Hum Genet (2013) 1.53
Identification of microRNA-regulated gene networks by expression analysis of target genes. Genome Res (2012) 1.51
miR-204 is required for lens and retinal development via Meis2 targeting. Proc Natl Acad Sci U S A (2010) 1.48
Natural antisense transcripts associated with genes involved in eye development. Hum Mol Genet (2005) 1.40
Vax2 inactivation in mouse determines alteration of the eye dorsal-ventral axis, misrouting of the optic fibres and eye coloboma. Development (2002) 1.39
A homozygous missense mutation in the IRBP gene (RBP3) associated with autosomal recessive retinitis pigmentosa. Invest Ophthalmol Vis Sci (2008) 1.27
A 76-kb duplicon maps close to the BCR gene on chromosome 22 and the ABL gene on chromosome 9: possible involvement in the genesis of the Philadelphia chromosome translocation. Proc Natl Acad Sci U S A (2002) 1.25
Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa. Am J Hum Genet (2010) 1.19
An autoregulatory loop directs the tissue-specific expression of p63 through a long-range evolutionarily conserved enhancer. Mol Cell Biol (2006) 1.13
Pax6 regulates gene expression in the vertebrate lens through miR-204. PLoS Genet (2013) 1.11
Correlation between photoreceptor layer integrity and visual function in patients with Stargardt disease: implications for gene therapy. Invest Ophthalmol Vis Sci (2012) 1.09
The long noncoding RNA Vax2os1 controls the cell cycle progression of photoreceptor progenitors in the mouse retina. RNA (2011) 1.08
BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome. Arch Ophthalmol (2012) 1.06
Molecular diagnosis of Usher syndrome: application of two different next generation sequencing-based procedures. PLoS One (2012) 1.01
Evaluation of Italian patients with leber congenital amaurosis due to AIPL1 mutations highlights the potential applicability of gene therapy. Invest Ophthalmol Vis Sci (2011) 0.99
Molecular epidemiology of Usher syndrome in Italy. Mol Vis (2011) 0.97
CoGemiR: a comparative genomics microRNA database. BMC Genomics (2008) 0.97
HOCTAR database: a unique resource for microRNA target prediction. Gene (2011) 0.96
Mutations in IMPG1 cause vitelliform macular dystrophies. Am J Hum Genet (2013) 0.96
Promiscuity of enhancer, coding and non-coding transcription functions in ultraconserved elements. BMC Genomics (2010) 0.95
Identification and expression analysis of novel Jakmip1 transcripts. Gene (2007) 0.95
A high-resolution RNA expression atlas of retinitis pigmentosa genes in human and mouse retinas. Invest Ophthalmol Vis Sci (2008) 0.95
Identification and characterization of C1orf36, a transcript highly expressed in photoreceptor cells, and mutation analysis in retinitis pigmentosa. Biochem Biophys Res Commun (2003) 0.94
Highly conserved elements discovered in vertebrates are present in non-syntenic loci of tunicates, act as enhancers and can be transcribed during development. Nucleic Acids Res (2013) 0.94
MicroRNA-restricted transgene expression in the retina. PLoS One (2011) 0.92
Reverse engineering a mouse embryonic stem cell-specific transcriptional network reveals a new modulator of neuronal differentiation. Nucleic Acids Res (2012) 0.91
Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway. Autophagy (2015) 0.91
Vax2 regulates retinoic acid distribution and cone opsin expression in the vertebrate eye. Development (2010) 0.90
Characterization of the OFD1/Ofd1 genes on the human and mouse sex chromosomes and exclusion of Ofd1 for the Xpl mouse mutant. Genomics (2003) 0.90
DG-CST (Disease Gene Conserved Sequence Tags), a database of human-mouse conserved elements associated to disease genes. Nucleic Acids Res (2005) 0.90
Non-coding RNAs in the development of sensory organs and related diseases. Cell Mol Life Sci (2013) 0.88
Identification and characterisation of the retinitis pigmentosa 1-like1 gene (RP1L1): a novel candidate for retinal degenerations. Eur J Hum Genet (2003) 0.88
Two novel CYP7B1 mutations in Italian families with SPG5: a clinical and genetic study. J Neurol (2009) 0.87
Novel mutation of SACS gene in a Spanish family with autosomal recessive spastic ataxia. Mov Disord (2005) 0.87
Gene therapy of inherited retinal degenerations: prospects and challenges. Hum Gene Ther (2015) 0.87
miR-204 targeting of Ankrd13A controls both mesenchymal neural crest and lens cell migration. PLoS One (2013) 0.86
A mouse embryonic stem cell bank for inducible overexpression of human chromosome 21 genes. Genome Biol (2010) 0.86
Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype. PLoS One (2013) 0.85
The ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophy. Orphanet J Rare Dis (2013) 0.84
Impact of age at administration, lysosomal storage, and transgene regulatory elements on AAV2/8-mediated rat liver transduction. PLoS One (2012) 0.83
Characterization of MPP4, a gene highly expressed in photoreceptor cells, and mutation analysis in retinitis pigmentosa. Gene (2002) 0.83
Pcp4l1, a novel gene encoding a Pcp4-like polypeptide, is expressed in specific domains of the developing brain. Gene Expr Patterns (2004) 0.81
Transcriptional regulation by Barhl1 and Brn-3c in organ-of-Corti-derived cell lines. Brain Res Mol Brain Res (2005) 0.80
Autosomal recessive progressive myoclonus epilepsy with ataxia and mental retardation. J Neurol (2005) 0.79
Very late onset in ataxia oculomotor apraxia type I. Ann Neurol (2005) 0.78
The absence of dystrophin brain isoform expression in healthy human heart ventricles explains the pathogenesis of 5' X-linked dilated cardiomyopathy. BMC Med Genet (2012) 0.78
Sonic Hedgehog deletion and distal trisomy 3p in a patient with microphthalmia and microcephaly, lacking cerebral anomalies typical of holoprosencephaly. Eur J Med Genet (2008) 0.76