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To date, DROSHA has not yet been associated with a Mendelian disease. Here, we describe two individuals with profound intellectual disability, epilepsy, white matter atrophy, microcephaly and dysmorphic features, who carry damaging de novo heterozygous variants in DROSHA. DROSHA is constrained for missense variants and moderately intolerant to loss-of-function (o\/e\u2009=\u20090.24). The loss of the fruit fly ortholog drosha causes developmental arrest and death in third instar larvae, a severe reduction in brain size and loss of imaginal discs in the larva. Loss of drosha in eye clones causes small and rough eyes in adult flies. One of the identified DROSHA variants (p.Asp1219Gly) behaves as a strong loss-of-function allele in flies, while another variant (p.Arg1342Trp) is less damaging in our assays. In worms, a knock-in that mimics the p.Asp1219Gly variant at a worm equivalent residue causes loss of miRNA expression and heterochronicity, a phenotype characteristic of the loss of miRNA. Together, our data show that the DROSHA variants found in the individuals presented here are damaging based on functional studies in model organisms and likely underlie the severe phenotype involving the nervous system.<\/jats:p>","DOI":"10.1093\/hmg\/ddac085","type":"journal-article","created":{"date-parts":[[2022,4,14]],"date-time":"2022-04-14T11:14:50Z","timestamp":1649934890000},"page":"2934-2950","source":"Crossref","is-referenced-by-count":17,"title":["The microRNA processor<i>DROSHA<\/i>is a candidate gene for a severe progressive neurological disorder"],"prefix":"10.1093","volume":"31","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7346-3207","authenticated-orcid":false,"given":"Scott","family":"Barish","sequence":"first","affiliation":[{"name":"Department of Molecular and Human Genetics , Baylor College of Medicine, Houston, TX 77030 , USA"},{"name":"Jan and Dan Duncan Neurological Research Institute , Texas Children\u2019s Hospital, Houston, TX 77030 , 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Biol."},{"key":"2022090105184181000_ref21","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1016\/B978-0-12-387038-4.00008-2","article-title":"Exploiting Drosophila genetics to understand microRNA function and regulation","volume":"99","author":"Dai","year":"2012","journal-title":"Curr. Top. Dev. Biol."},{"key":"2022090105184181000_ref22","doi-asserted-by":"crossref","first-page":"1553","DOI":"10.1084\/jem.20070823","article-title":"Cerebellar neurodegeneration in the absence of microRNAs","volume":"204","author":"Schaefer","year":"2007","journal-title":"J. Exp. Med."},{"key":"2022090105184181000_ref23","doi-asserted-by":"crossref","first-page":"962","DOI":"10.1038\/nn.3139","article-title":"Drosha regulates neurogenesis by controlling Neurogenin 2 expression independent of microRNAs","volume":"15","author":"Knuckles","year":"2012","journal-title":"Nat. Neurosci."},{"key":"2022090105184181000_ref24","doi-asserted-by":"crossref","first-page":"4878","DOI":"10.1523\/JNEUROSCI.0828-08.2008","article-title":"Dicer inactivation leads to progressive functional and structural degeneration of the mouse retina","volume":"28","author":"Damiani","year":"2008","journal-title":"J. Neurosci."},{"key":"2022090105184181000_ref25","doi-asserted-by":"crossref","first-page":"5614","DOI":"10.1073\/pnas.0801689105","article-title":"Dicer loss in striatal neurons produces behavioral and neuroanatomical phenotypes in the absence of neurodegeneration","volume":"105","author":"Cuellar","year":"2008","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"2022090105184181000_ref26","doi-asserted-by":"crossref","first-page":"380","DOI":"10.1038\/ng1969","article-title":"DGCR8 is essential for microRNA biogenesis and silencing of embryonic stem cell self-renewal","volume":"39","author":"Wang","year":"2007","journal-title":"Nat. Genet."},{"key":"2022090105184181000_ref27","doi-asserted-by":"crossref","first-page":"3353","DOI":"10.1093\/nar\/gkz097","article-title":"An estimate of the total number of true human miRNAs","volume":"47","author":"Alles","year":"2019","journal-title":"Nucleic Acids Res."},{"key":"2022090105184181000_ref28","doi-asserted-by":"crossref","first-page":"1026","DOI":"10.1038\/ng.915","article-title":"Germline deletion of the miR-17\u223c92 cluster causes skeletal and growth defects in humans","volume":"43","author":"De Pontual","year":"2011","journal-title":"Nat. Genet."},{"key":"2022090105184181000_ref29","doi-asserted-by":"crossref","first-page":"2641","DOI":"10.1056\/NEJMoa0803785","article-title":"Dicer, Drosha, and outcomes in patients with ovarian cancer","volume":"359","author":"Merritt","year":"2008","journal-title":"N. Engl. J. Med."},{"key":"2022090105184181000_ref30","doi-asserted-by":"crossref","first-page":"e873","DOI":"10.1371\/journal.pone.0000873","article-title":"Brain expressed microRNAs implicated in schizophrenia etiology","volume":"2","author":"Hansen","year":"2007","journal-title":"PLoS One"},{"key":"2022090105184181000_ref31","doi-asserted-by":"crossref","first-page":"130","DOI":"10.1111\/j.1750-3639.2007.00120.x","article-title":"MicroRNAs (miRNAs) in neurodegenerative diseases","volume":"18","author":"Nelson","year":"2008","journal-title":"Brain Pathol."},{"key":"2022090105184181000_ref32","doi-asserted-by":"crossref","first-page":"294","DOI":"10.1136\/jmedgenet-2013-101943","article-title":"Expanding the phenotype of mutations in DICER1: mosaic missense mutations in the RNase IIIb domain of DICER1 cause GLOW syndrome","volume":"51","author":"Klein","year":"2014","journal-title":"J. Med. Genet."},{"key":"2022090105184181000_ref33","doi-asserted-by":"crossref","first-page":"5188","DOI":"10.1007\/s12035-018-1444-7","article-title":"FOXG1 regulates PRKAR2B transcriptionally and posttranscriptionally via miR200 in the adult hippocampus","volume":"56","author":"Weise","year":"2019","journal-title":"Mol. Neurobiol."},{"key":"2022090105184181000_ref34","doi-asserted-by":"crossref","first-page":"1887","DOI":"10.1016\/j.celrep.2015.08.028","article-title":"MiR-199a links MeCP2 with mTOR signaling and its dysregulation leads to Rett syndrome phenotypes","volume":"12","author":"Tsujimura","year":"2015","journal-title":"Cell Rep."},{"key":"2022090105184181000_ref35","doi-asserted-by":"crossref","first-page":"547","DOI":"10.1016\/j.devcel.2014.01.032","article-title":"MeCP2 suppresses nuclear microRNA processing and dendritic growth by regulating the DGCR8\/Drosha complex","volume":"28","author":"Cheng","year":"2014","journal-title":"Dev. Cell"},{"key":"2022090105184181000_ref36","doi-asserted-by":"crossref","first-page":"5318","DOI":"10.1038\/s41467-018-07791-w","article-title":"Functional genomic analysis identifies miRNA repertoire regulating C. elegans oocyte development","volume":"9","author":"Minogue","year":"2018","journal-title":"Nat. Commun."},{"key":"2022090105184181000_ref37","doi-asserted-by":"crossref","first-page":"2965","DOI":"10.1128\/MCB.26.8.2965-2975.2006","article-title":"Genome-wide analysis of mRNAs regulated by Drosha and Argonaute proteins in Drosophila melanogaster","volume":"26","author":"Rehwinkel","year":"2006","journal-title":"Mol. Cell. Biol."},{"key":"2022090105184181000_ref38","doi-asserted-by":"crossref","first-page":"a023168","DOI":"10.1101\/cshperspect.a023168","article-title":"Whole-exome sequencing and whole-genome sequencing in critically ill neonates suspected to have single-gene disorders","volume":"6","author":"Smith","year":"2015","journal-title":"Cold Spring Harb. Perspect. Med."},{"key":"2022090105184181000_ref39","doi-asserted-by":"crossref","first-page":"1502","DOI":"10.1056\/NEJMoa1306555","article-title":"Clinical whole-exome sequencing for the diagnosis of mendelian disorders","volume":"369","author":"Yang","year":"2013","journal-title":"N. Engl. J. Med."},{"key":"2022090105184181000_ref40","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1038\/nature19057","article-title":"Analysis of protein-coding genetic variation in 60,706 humans","volume":"536","author":"Lek","year":"2016","journal-title":"Nature"},{"key":"2022090105184181000_ref41","doi-asserted-by":"crossref","first-page":"434","DOI":"10.1038\/s41586-020-2308-7","article-title":"The mutational constraint spectrum quantified from variation in 141,456 humans","volume":"581","author":"Karczewski","year":"2020","journal-title":"Nature"},{"key":"2022090105184181000_ref42","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1002\/humu.22932","article-title":"dbNSFP v3.0: a one-stop database of functional predictions and annotations for human nonsynonymous and splice-site SNVs","volume":"37","author":"Liu","year":"2016","journal-title":"Hum. Mutat."},{"key":"2022090105184181000_ref43","doi-asserted-by":"crossref","first-page":"843","DOI":"10.1016\/j.ajhg.2017.04.010","article-title":"MARRVEL: Integration of human and model organism genetic resources to facilitate functional annotation of the human genome","volume":"100","author":"Wang","year":"2017","journal-title":"Am. J. Hum. Genet."},{"key":"2022090105184181000_ref44","doi-asserted-by":"crossref","first-page":"928","DOI":"10.1002\/humu.22844","article-title":"GeneMatcher: a matching tool for connecting investigators with an interest in the same gene","volume":"36","author":"Sobreira","year":"2015","journal-title":"Hum. Mutat."},{"key":"2022090105184181000_ref45","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1016\/j.ajhg.2017.01.006","article-title":"The Undiagnosed Diseases Network: accelerating discovery about health and disease","volume":"100","author":"Ramoni","year":"2017","journal-title":"Am. J. Hum. Genet."},{"key":"2022090105184181000_ref46","doi-asserted-by":"crossref","first-page":"R207","DOI":"10.1093\/hmg\/ddz135","article-title":"The fruit fly at the interface of diagnosis and pathogenic mechanisms of rare and common human diseases","volume":"28","author":"Bellen","year":"2019","journal-title":"Hum. Mol. Genet."},{"key":"2022090105184181000_ref47","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1016\/j.conb.2017.10.017","article-title":"Genetic strategies to tackle neurological diseases in fruit flies","volume":"50","author":"\u015eent\u00fcrk","year":"2018","journal-title":"Curr. Opin. Neurobiol."},{"key":"2022090105184181000_ref48","doi-asserted-by":"crossref","first-page":"2131","DOI":"10.1056\/NEJMoa1714458","article-title":"Effect of genetic diagnosis on patients with previously undiagnosed disease","volume":"379","author":"Splinter","year":"2018","journal-title":"N. Engl. J. Med."},{"key":"2022090105184181000_ref49","first-page":"e59658","article-title":"In vivo functional study of disease-associated rare human variants using Drosophila","volume":"150","author":"Harnish","year":"2019","journal-title":"J. Vis. Exp."},{"key":"2022090105184181000_ref50","doi-asserted-by":"crossref","first-page":"128","DOI":"10.1016\/j.ajhg.2016.11.018","article-title":"A syndromic neurodevelopmental disorder caused by de novo variants in EBF3","volume":"100","author":"Chao","year":"2017","journal-title":"Am. J. Hum. Genet."},{"key":"2022090105184181000_ref51","doi-asserted-by":"crossref","first-page":"494","DOI":"10.1016\/j.ajhg.2018.01.020","article-title":"Biallelic mutations in ATP5F1D, which encodes a subunit of ATP synthase, cause a metabolic disorder","volume":"102","author":"Ol\u00e1hov\u00e1","year":"2018","journal-title":"Am. J. Hum. Genet."},{"key":"2022090105184181000_ref52","doi-asserted-by":"crossref","first-page":"413","DOI":"10.1016\/j.ajhg.2019.06.014","article-title":"De novo variants in WDR37 are associated with epilepsy, colobomas, dysmorphism, developmental delay, intellectual disability, and cerebellar hypoplasia","volume":"105","author":"Kanca","year":"2019","journal-title":"Am. J. Hum. Genet."},{"key":"2022090105184181000_ref53","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1016\/j.ajhg.2018.07.006","article-title":"IRF2BPL is associated with neurological phenotypes","volume":"103","author":"Marcogliese","year":"2018","journal-title":"Am. J. Hum. Genet."},{"key":"2022090105184181000_ref54","doi-asserted-by":"crossref","first-page":"553","DOI":"10.1016\/j.ajhg.2018.09.003","article-title":"A recurrent de novo heterozygous COG4 substitution leads to Saul-Wilson syndrome, disrupted vesicular trafficking, and altered proteoglycan glycosylation","volume":"103","author":"Ferreira","year":"2018","journal-title":"Am. J. Hum. Genet."},{"key":"2022090105184181000_ref55","doi-asserted-by":"crossref","first-page":"422","DOI":"10.1016\/j.ajhg.2019.01.007","article-title":"Bi-allelic variants in TONSL cause SPONASTRIME dysplasia and a spectrum of skeletal dysplasia phenotypes","volume":"104","author":"Burrage","year":"2019","journal-title":"Am. J. Hum. Genet."},{"key":"2022090105184181000_ref56","doi-asserted-by":"crossref","first-page":"e85","DOI":"10.1002\/cpbi.85","article-title":"Using MARRVEL v1.2 for bioinformatics analysis of human genes and variant pathogenicity","volume":"67","author":"Wang","year":"2019","journal-title":"Curr. Protoc. Bioinformatics"},{"key":"2022090105184181000_ref57","first-page":"e59542","article-title":"Navigating MARRVEL, a web-based tool that integrates human genomics and model organism genetics information","volume":"150","author":"Wang","year":"2019","journal-title":"J. Vis. Exp."},{"key":"2022090105184181000_ref58","doi-asserted-by":"crossref","first-page":"991","DOI":"10.1016\/j.ajhg.2016.08.017","article-title":"De novo truncating variants in ASXL2 are associated with a unique and recognizable clinical phenotype","volume":"99","author":"Shashi","year":"2016","journal-title":"Am. J. Hum. Genet."},{"key":"2022090105184181000_ref59","first-page":"434","article-title":"The mutational constraint spectrum quantified from variation in 141,456 humans","volume-title":"Nature","author":"Karczewski","year":"2020"},{"key":"2022090105184181000_ref60","doi-asserted-by":"crossref","first-page":"D1062","DOI":"10.1093\/nar\/gkx1153","article-title":"ClinVar: improving access to variant interpretations and supporting evidence","volume":"46","author":"Landrum","year":"2018","journal-title":"Nucleic Acids Res."},{"key":"2022090105184181000_ref61","doi-asserted-by":"crossref","first-page":"W452","DOI":"10.1093\/nar\/gks539","article-title":"SIFT web server: predicting effects of amino acid substitutions on proteins","volume":"40","author":"Sim","year":"2012","journal-title":"Nucleic Acids Res."},{"key":"2022090105184181000_ref62","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1038\/nmeth0410-248","article-title":"A method and server for predicting damaging missense mutations","volume":"7","author":"Adzhubei","year":"2010","journal-title":"Nat. Methods"},{"key":"2022090105184181000_ref63","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1038\/ng.2892","article-title":"A general framework for estimating the relative pathogenicity of human genetic variants","volume":"46","author":"Kircher","year":"2014","journal-title":"Nat. Genet."},{"key":"2022090105184181000_ref64","doi-asserted-by":"crossref","first-page":"D886","DOI":"10.1093\/nar\/gky1016","article-title":"CADD: predicting the deleteriousness of variants throughout the human genome","volume":"47","author":"Rentzsch","year":"2019","journal-title":"Nucleic Acids Res."},{"key":"2022090105184181000_ref65","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1186\/1471-2105-12-357","article-title":"An integrative approach to ortholog prediction for disease-focused and other functional studies","volume":"12","author":"Hu","year":"2011","journal-title":"BMC Bioinformatics"},{"key":"2022090105184181000_ref66","doi-asserted-by":"crossref","first-page":"D506","DOI":"10.1093\/nar\/gky1049","article-title":"UniProt: a worldwide hub of protein knowledge","volume":"47","author":"Bateman","year":"2019","journal-title":"Nucleic Acids Res."},{"key":"2022090105184181000_ref67","doi-asserted-by":"crossref","first-page":"2594","DOI":"10.1073\/pnas.68.10.2594","article-title":"Imaginal disc abnormalities in lethal mutants of Drosophila","volume":"68","author":"Shearn","year":"1971","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"2022090105184181000_ref68","doi-asserted-by":"crossref","first-page":"700","DOI":"10.3389\/fgene.2018.00700","article-title":"Unraveling novel mechanisms of neurodegeneration through a large-scale forward genetic screen in Drosophila","volume":"10","author":"Deal","year":"2019","journal-title":"Front. Genet."},{"key":"2022090105184181000_ref69","doi-asserted-by":"crossref","first-page":"200","DOI":"10.1016\/j.cell.2014.09.002","article-title":"A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases","volume":"159","author":"Yamamoto","year":"2014","journal-title":"Cell"},{"key":"2022090105184181000_ref70","doi-asserted-by":"crossref","first-page":"1931","DOI":"10.1016\/j.cell.2018.11.028","article-title":"Comparative flavivirus-host protein interaction mapping reveals mechanisms of dengue and Zika virus pathogenesis","volume":"175","author":"Shah","year":"2018","journal-title":"Cell"},{"key":"2022090105184181000_ref71","doi-asserted-by":"crossref","first-page":"713","DOI":"10.1016\/j.devcel.2019.10.009","article-title":"Mutations in ANKLE2, a ZIKA virus target, disrupt an asymmetric cell division pathway in Drosophila neuroblasts to cause microcephaly","volume":"51","author":"Link","year":"2019","journal-title":"Dev. Cell"},{"key":"2022090105184181000_ref72","doi-asserted-by":"crossref","first-page":"1747","DOI":"10.1126\/science.1134426","article-title":"P[acman]: a BAC transgenic platform for targeted insertion of large DNA fragments in D. melanogaster","volume":"314","author":"Venken","year":"2006","journal-title":"Science (80-)"},{"key":"2022090105184181000_ref73","doi-asserted-by":"crossref","first-page":"e1006905","DOI":"10.1371\/journal.pgen.1006905","article-title":"Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially","volume":"13","author":"Luo","year":"2017","journal-title":"PLoS Genet."},{"key":"2022090105184181000_ref74","doi-asserted-by":"crossref","first-page":"1631","DOI":"10.1093\/genetics\/152.4.1631","article-title":"A genetic method for generating Drosophila eyes composed exclusively of mitotic clones of a single genotype","volume":"152","author":"Stowers","year":"1999","journal-title":"Genetics"},{"key":"2022090105184181000_ref75","doi-asserted-by":"crossref","first-page":"1223","DOI":"10.1242\/dev.117.4.1223","article-title":"Analysis of genetic mosaics in developing and adult Drosophila tissues","volume":"117","author":"Xu","year":"1993","journal-title":"Development"},{"key":"2022090105184181000_ref76","doi-asserted-by":"crossref","first-page":"958","DOI":"10.1126\/science.2035025","article-title":"Site-specific recombination between homologous chromosomes in Drosophila","volume":"252","author":"Golic","year":"1991","journal-title":"Science (80-)"},{"key":"2022090105184181000_ref77","doi-asserted-by":"crossref","first-page":"e1006327","DOI":"10.1371\/journal.pgen.1006327","article-title":"Rare functional variant in TM2D3 is associated with late-onset Alzheimer\u2019s disease","volume":"12","author":"Jakobsdottir","year":"2016","journal-title":"PLoS Genet."},{"key":"2022090105184181000_ref78","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1007\/978-3-319-89512-3_8","article-title":"Integration of Drosophila and human genetics to understand Notch signaling related diseases","volume":"1066","author":"Salazar","year":"2018","journal-title":"Adv. Exp. Med. Biol."},{"key":"2022090105184181000_ref79","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1016\/j.cell.2015.09.009","article-title":"Morgan\u2019s legacy: fruit flies and the functional annotation of conserved genes","volume":"163","author":"Bellen","year":"2015","journal-title":"Cell"},{"key":"2022090105184181000_ref80","doi-asserted-by":"crossref","first-page":"401","DOI":"10.1242\/dev.118.2.401","article-title":"Targeted gene expression as a means of altering cell fates and generating dominant phenotypes","volume":"118","author":"Brand","year":"1993","journal-title":"Development"},{"key":"2022090105184181000_ref81","doi-asserted-by":"crossref","first-page":"851","DOI":"10.1242\/dev.127.4.851","article-title":"Analysis of Drosophila photoreceptor axon guidance in eye-specific mosaics","volume":"127","author":"Newsome","year":"2000","journal-title":"Development"},{"key":"2022090105184181000_ref82","doi-asserted-by":"crossref","first-page":"354","DOI":"10.1038\/222354a0","article-title":"Abnormal electroretinograms in visual mutants of Drosophila","volume":"222","author":"Hotta","year":"1969","journal-title":"Nature"},{"key":"2022090105184181000_ref83","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1242\/jeb.55.1.85","article-title":"Separation of receptor and lamina potentials in the electroretinogram of normal and mutant Drosophila","volume":"55","author":"Heisenberg","year":"1971","journal-title":"J. Exp. Biol."},{"key":"2022090105184181000_ref84","doi-asserted-by":"crossref","first-page":"pdb.prot5549","DOI":"10.1101\/pdb.prot5549","article-title":"Electroretinogram recordings of Drosophila","volume":"6","author":"Dolph","year":"2011","journal-title":"Cold Spring Harb Protoc"},{"key":"2022090105184181000_ref85","doi-asserted-by":"crossref","first-page":"862","DOI":"10.1126\/science.1065329","article-title":"An extensive class of small RNAs in Caenorhabditis elegans","volume":"294","author":"Lee","year":"2001","journal-title":"Science (80-)"},{"key":"2022090105184181000_ref86","doi-asserted-by":"crossref","first-page":"403","DOI":"10.1016\/j.devcel.2005.07.009","article-title":"The let-7 MicroRNA Family Members mir-48, mir-84, and mir-241 function together to regulate developmental timing in Caenorhabditis elegans","volume":"9","author":"Abbott","year":"2005","journal-title":"Dev. 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Biol."},{"key":"2022090105184181000_ref88","doi-asserted-by":"crossref","first-page":"901","DOI":"10.1038\/35002607","article-title":"The 21-nucleotide let-7 RNA regulates developmental timing in Caenorhabditis elegans","volume":"403","author":"Reinhart","year":"2000","journal-title":"Nature"},{"key":"2022090105184181000_ref89","doi-asserted-by":"crossref","first-page":"86","DOI":"10.1016\/j.ymeth.2017.03.023","article-title":"Precision genome editing using CRISPR-Cas9 and linear repair templates in C. elegans","volume":"121\u2013122","author":"Paix","year":"2017","journal-title":"Methods"},{"key":"2022090105184181000_ref90","doi-asserted-by":"crossref","first-page":"1747","DOI":"10.1534\/g3.114.011973","article-title":"The Embryonic mir-35 family of microRNAs promotes multiple aspects of fecundity in Caenorhabditis elegans","volume":"4","author":"McJunkin","year":"2014","journal-title":"G3 Genes, Genomes, Genet."},{"key":"2022090105184181000_ref91","doi-asserted-by":"crossref","first-page":"2226","DOI":"10.1039\/C4OB02104E","article-title":"A review: microRNA detection methods","volume":"13","author":"Tian","year":"2015","journal-title":"Org. Biomol. Chem."},{"key":"2022090105184181000_ref92","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1016\/j.ydbio.2017.04.007","article-title":"Functional analysis of microRNA pathway genes in the somatic gonad and germ cells during ovulation in C. elegans","volume":"426","author":"Rios","year":"2017","journal-title":"Dev. Biol."},{"key":"2022090105184181000_ref93","doi-asserted-by":"crossref","first-page":"415","DOI":"10.1038\/nature01957","article-title":"The nuclear RNase III Drosha initiates microRNA processing","volume":"425","author":"Lee","year":"2003","journal-title":"Nature"},{"key":"2022090105184181000_ref94","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1186\/1755-8417-2-7","article-title":"microRNAs and genetic diseases","volume":"2","author":"Meola","year":"2009","journal-title":"Pathogenetics"},{"key":"2022090105184181000_ref95","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1111\/cga.12043","article-title":"Human diseases caused by germline and somatic abnormalities in microRNA and microRNA-related genes","volume":"54","author":"Kawahara","year":"2014","journal-title":"Congenit. Anom. (Kyoto)."},{"key":"2022090105184181000_ref96","doi-asserted-by":"crossref","first-page":"118","DOI":"10.1016\/j.bcp.2017.07.008","article-title":"MicroRNA: basic concepts and implications for regeneration and repair of neurodegenerative diseases","volume":"141","author":"Saraiva","year":"2017","journal-title":"Biochem. Pharmacol."},{"key":"2022090105184181000_ref97","doi-asserted-by":"crossref","first-page":"156","DOI":"10.3389\/fnmol.2019.00156","article-title":"The emerging role of micrornas in polyglutamine diseases. The emerging role of micrornas in polyglutamine diseases","volume":"12","author":"Dong","year":"2019","journal-title":"Front. Mol. Neurosci."},{"key":"2022090105184181000_ref98","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1016\/j.cell.2008.10.053","article-title":"Posttranscriptional crossregulation between Drosha and DGCR8","volume":"136","author":"Han","year":"2009","journal-title":"Cell"},{"key":"2022090105184181000_ref99","doi-asserted-by":"crossref","first-page":"1951","DOI":"10.1101\/gad.1953310","article-title":"Canonical and alternate functions of the microRNA biogenesis machinery","volume":"24","author":"Chong","year":"2010","journal-title":"Genes Dev."},{"key":"2022090105184181000_ref100","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1111\/dgd.12640","article-title":"Making sense out of missense mutations: mechanistic dissection of Notch receptors through structure-function studies in Drosophila","volume":"62","author":"Yamamoto","year":"2020","journal-title":"Dev. 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Genet."},{"key":"2022090105184181000_ref102","doi-asserted-by":"crossref","first-page":"865","DOI":"10.1016\/S0092-8674(00)80799-0","article-title":"Autonomous control of cell and organ size by CHICO, a Drosophila homolog of vertebrate IRS1\u20134","volume":"97","author":"B\u00f6hni","year":"1999","journal-title":"Cell"},{"key":"2022090105184181000_ref103","doi-asserted-by":"crossref","first-page":"1694","DOI":"10.1101\/gad.9.14.1694","article-title":"The head involution defective gene of Drosophila melanogaster functions in programmed cell death","volume":"9","author":"Grether","year":"1995","journal-title":"Genes Dev."},{"key":"2022090105184181000_ref104","doi-asserted-by":"crossref","first-page":"10779","DOI":"10.1073\/pnas.95.18.10779","article-title":"A modifier screen in the eye reveals control genes for Kruppel activity in the Drosophila embryo","volume":"95","author":"Carrera","year":"1998","journal-title":"Proc. Natl. Acad. 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