The microRNA processor DROSHA is a candidate gene for a severe progressive neurological disorder

The microRNA processor DROSHA is a candidate gene for a severe progressive neurological disorder

Abstract DROSHA encodes a ribonuclease that is a subunit of the Microprocessor complex and is involved in the first step of microRNA (miRNA) biogenesis. To date, DROSHA has not yet been associated with a Mendelian disease. Here, we describe two individuals with profound intellectual disability, epil...

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Published in:Human molecular genetics Vol. 31; no. 17; pp. 2934 - 2950
Main Authors: Barish, Scott, Senturk, Mumine, Schoch, Kelly, Minogue, Amanda L, Lopergolo, Diego, Fallerini, Chiara, Harland, Jake, Seemann, Jacob H, Stong, Nicholas, Kranz, Peter G, Kansagra, Sujay, Mikati, Mohamad A, Jasien, Joan, El-Dairi, Mays, Galluzzi, Paolo, Ariani, Francesca, Renieri, Alessandra, Mari, Francesca, Wangler, Michael F, Arur, Swathi, Jiang, Yong-Hui, Yamamoto, Shinya, Shashi, Vandana, Bellen, Hugo J
Format: Journal Article
Language:English
Published: England Oxford University Press 25-08-2022
Subjects:
Epilepsy
Humans
Intellectual Disability - genetics
Microcephaly - genetics
MicroRNAs - genetics
MicroRNAs - metabolism
Nervous System Malformations
Original
Ribonuclease III - genetics
Ribonuclease III - metabolism
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Abstract Abstract DROSHA encodes a ribonuclease that is a subunit of the Microprocessor complex and is involved in the first step of microRNA (miRNA) biogenesis. 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 = 0.24). 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.
AbstractList DROSHA encodes a ribonuclease that is a subunit of the Microprocessor complex and is involved in the first step of microRNA (miRNA) biogenesis. 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 = 0.24). 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.DROSHA encodes a ribonuclease that is a subunit of the Microprocessor complex and is involved in the first step of microRNA (miRNA) biogenesis. 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 = 0.24). 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.
DROSHA encodes a ribonuclease that is a subunit of the Microprocessor complex and is involved in the first step of microRNA (miRNA) biogenesis. 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 = 0.24). 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.
Abstract DROSHA encodes a ribonuclease that is a subunit of the Microprocessor complex and is involved in the first step of microRNA (miRNA) biogenesis. 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 = 0.24). 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.
DROSHA encodes a ribonuclease that is a subunit of the Microprocessor complex and is involved in the first step of microRNA (miRNA) biogenesis. 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 = 0.24). 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.
Author Seemann, Jacob H
El-Dairi, Mays
Galluzzi, Paolo
Stong, Nicholas
Ariani, Francesca
Jasien, Joan
Shashi, Vandana
Senturk, Mumine
Mikati, Mohamad A
Arur, Swathi
Lopergolo, Diego
Jiang, Yong-Hui
Schoch, Kelly
Fallerini, Chiara
Barish, Scott
Minogue, Amanda L
Kranz, Peter G
Bellen, Hugo J
Yamamoto, Shinya
Wangler, Michael F
Kansagra, Sujay
Mari, Francesca
Renieri, Alessandra
Harland, Jake
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BackLink https://www.ncbi.nlm.nih.gov/pubmed/35405010$$D View this record in MEDLINE/PubMed
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Cites_doi 10.1126/science.2035025
10.1038/ng1969
10.1016/j.celrep.2015.08.028
10.1016/j.ajhg.2017.01.006
10.1039/C4OB02104E
10.1038/nature19057
10.1371/journal.pgen.1006905
10.1038/nmeth0410-248
10.1261/rna.2983511
10.1038/222354a0
10.1093/hmg/ddz135
10.1016/j.ajhg.2021.06.019
10.1016/j.neuron.2010.01.027
10.1136/jmedgenet-2013-101943
10.1038/s41467-018-07791-w
10.1002/humu.22932
10.1002/cpbi.85
10.1534/g3.114.011973
10.1038/nature03120
10.1016/j.ydbio.2016.06.026
10.1093/nar/gkz097
10.1101/gad.1004402
10.1016/j.devcel.2019.10.009
10.1073/pnas.1318445111
10.1146/annurev.cellbio.18.012502.105832
10.1101/gad.1262504
10.1016/j.ajhg.2017.04.010
10.3389/fnmol.2019.00156
10.1056/NEJMoa0803785
10.1146/annurev-biochem-060308-103103
10.1038/nn.3139
10.1016/j.ajhg.2018.07.006
10.1016/B978-0-12-387038-4.00008-2
10.1093/nar/gky1049
10.1523/JNEUROSCI.2592-11.2011
10.1016/j.ymeth.2017.03.023
10.1016/j.cell.2015.09.009
10.1007/s12035-018-1444-7
10.1101/gad.1953310
10.1242/dev.127.4.851
10.1242/dev.118.2.401
10.1093/nar/gks539
10.1016/j.devcel.2005.07.009
10.1101/gad.9.14.1694
10.1016/j.conb.2017.10.017
10.1016/j.ajhg.2018.09.003
10.1016/j.ajhg.2016.08.017
10.3389/fgene.2018.00700
10.1073/pnas.95.18.10779
10.1073/pnas.0803697105
10.1038/nature01957
10.1056/NEJMoa1714458
10.1093/genetics/152.4.1631
10.1242/dev.117.4.1223
10.1371/journal.pone.0000873
10.1038/ncomms5802
10.1016/j.ajhg.2019.01.007
10.1016/j.cell.2008.10.053
10.1056/NEJMoa1306555
10.1016/j.ajhg.2019.06.014
10.1038/nature03049
10.1038/ng.2892
10.1101/gad.290155.116
10.1111/cga.12043
10.1016/j.ydbio.2017.04.007
10.1016/j.ajhg.2016.11.018
10.1093/emboj/cdf476
10.1084/jem.20070823
10.1073/pnas.0611511104
10.1073/pnas.0801689105
10.1016/S0092-8674(01)00431-7
10.1038/s41586-020-2308-7
10.1016/j.ajhg.2018.01.020
10.1016/j.bcp.2017.07.008
10.1016/0092-8674(93)90529-Y
10.1038/nature07086
10.1242/jeb.55.1.85
10.1016/S0092-8674(00)80799-0
10.1111/dgd.12640
10.1038/35002607
10.1186/1471-2105-12-357
10.1126/science.1065329
10.1016/j.cell.2014.09.002
10.1111/j.1750-3639.2007.00120.x
10.1101/cshperspect.a023168
10.1186/1755-8417-2-7
10.1080/15476286.2017.1402999
10.1126/science.1134426
10.1534/g3.112.002030
10.1093/nar/gkx1153
10.1126/science.1065062
10.1523/JNEUROSCI.0828-08.2008
10.1093/nar/gky1016
10.1016/j.ydbio.2012.03.005
10.1371/journal.pgen.1006327
10.1073/pnas.68.10.2594
10.1016/j.cell.2018.11.028
10.1002/humu.22844
10.1101/pdb.prot5549
10.1128/MCB.26.8.2965-2975.2006
10.1242/dev.125.12.2263
10.1016/j.devcel.2014.01.032
10.1038/ng.915
10.1007/978-3-319-89512-3_8
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content type line 23
Scott Barish, Mumine Senturk, Kelly Schoch, Vandana Shashi and Hugo J. Bellen contributed equally to this work.
Present address: Huffington Center on Aging, Baylor College of Medicine, Houston, TX 77030, USA.
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References McJunkin (2022090105184181000_ref19) 2018; 15
Şentürk (2022090105184181000_ref47) 2018; 50
Splinter (2022090105184181000_ref48) 2018; 379
Adzhubei (2022090105184181000_ref62) 2010; 7
De Pontual (2022090105184181000_ref28) 2011; 43
Wang (2022090105184181000_ref43) 2017; 100
Rehwinkel (2022090105184181000_ref37) 2006; 26
Rios (2022090105184181000_ref92) 2017; 426
Burrage (2022090105184181000_ref55) 2019; 104
Lee (2022090105184181000_ref93) 2003; 425
Chong (2022090105184181000_ref99) 2010; 24
Wang (2022090105184181000_ref57) 2019; 150
Yang (2022090105184181000_ref20) 2016; 416
Ramoni (2022090105184181000_ref45) 2017; 100
Venken (2022090105184181000_ref72) 2006; 314
Meola (2022090105184181000_ref94) 2009; 2
Grether (2022090105184181000_ref103) 1995; 9
Alles (2022090105184181000_ref27) 2019; 47
Landrum (2022090105184181000_ref60) 2018; 46
Lee (2022090105184181000_ref85) 2001; 294
Goodman (2022090105184181000_ref101) 2021; 108
Yang (2022090105184181000_ref39) 2013; 369
Smibert (2022090105184181000_ref18) 2011; 17
Fabian (2022090105184181000_ref1) 2010; 79
Golic (2022090105184181000_ref76) 1991; 252
Yamamoto (2022090105184181000_ref100) 2020; 62
Nelson (2022090105184181000_ref31) 2008; 18
Lau (2022090105184181000_ref2) 2001; 294
Karczewski (2022090105184181000_ref59) 2020
Saraiva (2022090105184181000_ref96) 2017; 141
Duffy (2022090105184181000_ref105) 1998; 125
Damiani (2022090105184181000_ref24) 2008; 28
Newsome (2022090105184181000_ref81) 2000; 127
Denli (2022090105184181000_ref9) 2004; 432
Azzam (2022090105184181000_ref14) 2012; 365
Tian (2022090105184181000_ref91) 2015; 13
McJunkin (2022090105184181000_ref90) 2014; 4
Pfeiffer (2022090105184181000_ref107) 2008; 105
Reinhart (2022090105184181000_ref88) 2000; 403
Reinhart (2022090105184181000_ref3) 2002; 16
Shah (2022090105184181000_ref70) 2018; 175
Xu (2022090105184181000_ref75) 1993; 117
Bischof (2022090105184181000_ref106) 2007; 104
Hartl (2022090105184181000_ref5) 2011; 31
Klein (2022090105184181000_ref32) 2014; 51
Han (2022090105184181000_ref11) 2004; 18
Schaefer (2022090105184181000_ref22) 2007; 204
Liu (2022090105184181000_ref42) 2016; 37
Kircher (2022090105184181000_ref63) 2014; 46
McJunkin (2022090105184181000_ref15) 2017; 31
Bellen (2022090105184181000_ref79) 2015; 163
Karczewski (2022090105184181000_ref41) 2020; 581
Lee (2022090105184181000_ref17) 1993; 75
Marcogliese (2022090105184181000_ref53) 2018; 103
Bellen (2022090105184181000_ref46) 2019; 28
Paix (2022090105184181000_ref89) 2017; 121–122
Dolph (2022090105184181000_ref84) 2011; 6
Sobreira (2022090105184181000_ref44) 2015; 36
Yamamoto (2022090105184181000_ref69) 2014; 159
Kawahara (2022090105184181000_ref95) 2014; 54
Han (2022090105184181000_ref98) 2009; 136
Knuckles (2022090105184181000_ref23) 2012; 15
Lek (2022090105184181000_ref40) 2016; 536
Salazar (2022090105184181000_ref78) 2018; 1066
Wang (2022090105184181000_ref56) 2019; 67
Hotta (2022090105184181000_ref82) 1969; 222
Link (2022090105184181000_ref71) 2019; 51
Shearn (2022090105184181000_ref67) 1971; 68
Pasquinelli (2022090105184181000_ref87) 2002; 18
Weise (2022090105184181000_ref33) 2019; 56
Cuellar (2022090105184181000_ref25) 2008; 105
Wang (2022090105184181000_ref26) 2007; 39
Oláhová (2022090105184181000_ref51) 2018; 102
Abbott (2022090105184181000_ref86) 2005; 9
Rentzsch (2022090105184181000_ref64) 2019; 47
Luhur (2022090105184181000_ref13) 2014; 111
Grishok (2022090105184181000_ref16) 2001; 106
Shashi (2022090105184181000_ref58) 2016; 99
Sim (2022090105184181000_ref61) 2012; 40
Merritt (2022090105184181000_ref29) 2008; 359
Böhni (2022090105184181000_ref102) 1999; 97
Dugas (2022090105184181000_ref4) 2010; 65
Harnish (2022090105184181000_ref49) 2019; 150
Tsujimura (2022090105184181000_ref34) 2015; 12
Heisenberg (2022090105184181000_ref83) 1971; 55
Davis (2022090105184181000_ref8) 2008; 454
Bateman (2022090105184181000_ref66) 2019; 47
Hu (2022090105184181000_ref65) 2011; 12
Rakheja (2022090105184181000_ref12) 2014; 5
Gregory (2022090105184181000_ref7) 2004; 432
Carrera (2022090105184181000_ref104) 1998; 95
Stowers (2022090105184181000_ref74) 1999; 152
Chao (2022090105184181000_ref50) 2017; 100
Hansen (2022090105184181000_ref30) 2007; 2
Jakobsdottir (2022090105184181000_ref77) 2016; 12
Smith (2022090105184181000_ref38) 2015; 6
Luo (2022090105184181000_ref73) 2017; 13
Dong (2022090105184181000_ref97) 2019; 12
Pressman (2022090105184181000_ref10) 2012; 2
Brand (2022090105184181000_ref80) 1993; 118
Kanca (2022090105184181000_ref52) 2019; 105
Ferreira (2022090105184181000_ref54) 2018; 103
Minogue (2022090105184181000_ref36) 2018; 9
Deal (2022090105184181000_ref68) 2019; 10
Cheng (2022090105184181000_ref35) 2014; 28
Lee (2022090105184181000_ref6) 2002; 21
Dai (2022090105184181000_ref21) 2012; 99
References_xml – volume: 252
  start-page: 958
  year: 1991
  ident: 2022090105184181000_ref76
  article-title: Site-specific recombination between homologous chromosomes in Drosophila
  publication-title: Science (80-)
  doi: 10.1126/science.2035025
  contributor:
    fullname: Golic
– volume: 39
  start-page: 380
  year: 2007
  ident: 2022090105184181000_ref26
  article-title: DGCR8 is essential for microRNA biogenesis and silencing of embryonic stem cell self-renewal
  publication-title: Nat. Genet.
  doi: 10.1038/ng1969
  contributor:
    fullname: Wang
– volume: 12
  start-page: 1887
  year: 2015
  ident: 2022090105184181000_ref34
  article-title: MiR-199a links MeCP2 with mTOR signaling and its dysregulation leads to Rett syndrome phenotypes
  publication-title: Cell Rep.
  doi: 10.1016/j.celrep.2015.08.028
  contributor:
    fullname: Tsujimura
– volume: 100
  start-page: 185
  year: 2017
  ident: 2022090105184181000_ref45
  article-title: The Undiagnosed Diseases Network: accelerating discovery about health and disease
  publication-title: Am. J. Hum. Genet.
  doi: 10.1016/j.ajhg.2017.01.006
  contributor:
    fullname: Ramoni
– volume: 13
  start-page: 2226
  year: 2015
  ident: 2022090105184181000_ref91
  article-title: A review: microRNA detection methods
  publication-title: Org. Biomol. Chem.
  doi: 10.1039/C4OB02104E
  contributor:
    fullname: Tian
– volume: 536
  start-page: 285
  year: 2016
  ident: 2022090105184181000_ref40
  article-title: Analysis of protein-coding genetic variation in 60,706 humans
  publication-title: Nature
  doi: 10.1038/nature19057
  contributor:
    fullname: Lek
– volume: 13
  start-page: e1006905
  year: 2017
  ident: 2022090105184181000_ref73
  article-title: Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially
  publication-title: PLoS Genet.
  doi: 10.1371/journal.pgen.1006905
  contributor:
    fullname: Luo
– volume: 7
  start-page: 248
  year: 2010
  ident: 2022090105184181000_ref62
  article-title: A method and server for predicting damaging missense mutations
  publication-title: Nat. Methods
  doi: 10.1038/nmeth0410-248
  contributor:
    fullname: Adzhubei
– volume: 17
  start-page: 1997
  year: 2011
  ident: 2022090105184181000_ref18
  article-title: A Drosophila genetic screen yields allelic series of core microRNA biogenesis factors and reveals post-developmental roles for microRNAs
  publication-title: RNA
  doi: 10.1261/rna.2983511
  contributor:
    fullname: Smibert
– volume: 222
  start-page: 354
  year: 1969
  ident: 2022090105184181000_ref82
  article-title: Abnormal electroretinograms in visual mutants of Drosophila
  publication-title: Nature
  doi: 10.1038/222354a0
  contributor:
    fullname: Hotta
– volume: 28
  start-page: R207
  year: 2019
  ident: 2022090105184181000_ref46
  article-title: The fruit fly at the interface of diagnosis and pathogenic mechanisms of rare and common human diseases
  publication-title: Hum. Mol. Genet.
  doi: 10.1093/hmg/ddz135
  contributor:
    fullname: Bellen
– volume: 108
  start-page: 1669
  year: 2021
  ident: 2022090105184181000_ref101
  article-title: TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila
  publication-title: Am. J. Hum. Genet.
  doi: 10.1016/j.ajhg.2021.06.019
  contributor:
    fullname: Goodman
– volume: 65
  start-page: 597
  year: 2010
  ident: 2022090105184181000_ref4
  article-title: Dicer1 and miR-219 are required for normal oligodendrocyte differentiation and myelination
  publication-title: Neuron
  doi: 10.1016/j.neuron.2010.01.027
  contributor:
    fullname: Dugas
– volume: 51
  start-page: 294
  year: 2014
  ident: 2022090105184181000_ref32
  article-title: Expanding the phenotype of mutations in DICER1: mosaic missense mutations in the RNase IIIb domain of DICER1 cause GLOW syndrome
  publication-title: J. Med. Genet.
  doi: 10.1136/jmedgenet-2013-101943
  contributor:
    fullname: Klein
– volume: 9
  start-page: 5318
  year: 2018
  ident: 2022090105184181000_ref36
  article-title: Functional genomic analysis identifies miRNA repertoire regulating C. elegans oocyte development
  publication-title: Nat. Commun.
  doi: 10.1038/s41467-018-07791-w
  contributor:
    fullname: Minogue
– volume: 37
  start-page: 235
  year: 2016
  ident: 2022090105184181000_ref42
  article-title: dbNSFP v3.0: a one-stop database of functional predictions and annotations for human nonsynonymous and splice-site SNVs
  publication-title: Hum. Mutat.
  doi: 10.1002/humu.22932
  contributor:
    fullname: Liu
– volume: 67
  start-page: e85
  year: 2019
  ident: 2022090105184181000_ref56
  article-title: Using MARRVEL v1.2 for bioinformatics analysis of human genes and variant pathogenicity
  publication-title: Curr. Protoc. Bioinformatics
  doi: 10.1002/cpbi.85
  contributor:
    fullname: Wang
– volume: 4
  start-page: 1747
  year: 2014
  ident: 2022090105184181000_ref90
  article-title: The Embryonic mir-35 family of microRNAs promotes multiple aspects of fecundity in Caenorhabditis elegans
  publication-title: G3 Genes, Genomes, Genet.
  doi: 10.1534/g3.114.011973
  contributor:
    fullname: McJunkin
– volume: 432
  start-page: 235
  year: 2004
  ident: 2022090105184181000_ref7
  article-title: The microprocessor complex mediates the genesis of microRNAs
  publication-title: Nature
  doi: 10.1038/nature03120
  contributor:
    fullname: Gregory
– volume: 416
  start-page: 312
  year: 2016
  ident: 2022090105184181000_ref20
  article-title: MicroRNA-dependent roles of Drosha and Pasha in the Drosophila larval ovary morphogenesis
  publication-title: Dev. Biol.
  doi: 10.1016/j.ydbio.2016.06.026
  contributor:
    fullname: Yang
– volume: 47
  start-page: 3353
  year: 2019
  ident: 2022090105184181000_ref27
  article-title: An estimate of the total number of true human miRNAs
  publication-title: Nucleic Acids Res.
  doi: 10.1093/nar/gkz097
  contributor:
    fullname: Alles
– volume: 16
  start-page: 1616
  year: 2002
  ident: 2022090105184181000_ref3
  article-title: MicroRNAs in plants
  publication-title: Genes Dev.
  doi: 10.1101/gad.1004402
  contributor:
    fullname: Reinhart
– volume: 51
  start-page: 713
  year: 2019
  ident: 2022090105184181000_ref71
  article-title: Mutations in ANKLE2, a ZIKA virus target, disrupt an asymmetric cell division pathway in Drosophila neuroblasts to cause microcephaly
  publication-title: Dev. Cell
  doi: 10.1016/j.devcel.2019.10.009
  contributor:
    fullname: Link
– volume: 111
  start-page: 1421
  year: 2014
  ident: 2022090105184181000_ref13
  article-title: Drosha-independent DGCR8/Pasha pathway regulates neuronal morphogenesis
  publication-title: Proc. Natl. Acad. Sci. U.S.A.
  doi: 10.1073/pnas.1318445111
  contributor:
    fullname: Luhur
– volume: 18
  start-page: 495
  year: 2002
  ident: 2022090105184181000_ref87
  article-title: Control of developmental timing by microRNAs and their targets
  publication-title: Annu. Rev. Cell Dev. Biol.
  doi: 10.1146/annurev.cellbio.18.012502.105832
  contributor:
    fullname: Pasquinelli
– volume: 18
  start-page: 3016
  year: 2004
  ident: 2022090105184181000_ref11
  article-title: The Drosha-DGCR8 complex in primary microRNA processing
  publication-title: Genes Dev.
  doi: 10.1101/gad.1262504
  contributor:
    fullname: Han
– volume: 100
  start-page: 843
  year: 2017
  ident: 2022090105184181000_ref43
  article-title: MARRVEL: Integration of human and model organism genetic resources to facilitate functional annotation of the human genome
  publication-title: Am. J. Hum. Genet.
  doi: 10.1016/j.ajhg.2017.04.010
  contributor:
    fullname: Wang
– volume: 12
  start-page: 156
  year: 2019
  ident: 2022090105184181000_ref97
  article-title: The emerging role of micrornas in polyglutamine diseases. The emerging role of micrornas in polyglutamine diseases
  publication-title: Front. Mol. Neurosci.
  doi: 10.3389/fnmol.2019.00156
  contributor:
    fullname: Dong
– volume: 359
  start-page: 2641
  year: 2008
  ident: 2022090105184181000_ref29
  article-title: Dicer, Drosha, and outcomes in patients with ovarian cancer
  publication-title: N. Engl. J. Med.
  doi: 10.1056/NEJMoa0803785
  contributor:
    fullname: Merritt
– volume: 79
  start-page: 351
  year: 2010
  ident: 2022090105184181000_ref1
  article-title: Regulation of mRNA translation and stability by microRNAs
  publication-title: Annu. Rev. Biochem.
  doi: 10.1146/annurev-biochem-060308-103103
  contributor:
    fullname: Fabian
– volume: 15
  start-page: 962
  year: 2012
  ident: 2022090105184181000_ref23
  article-title: Drosha regulates neurogenesis by controlling Neurogenin 2 expression independent of microRNAs
  publication-title: Nat. Neurosci.
  doi: 10.1038/nn.3139
  contributor:
    fullname: Knuckles
– volume: 150
  start-page: e59658
  year: 2019
  ident: 2022090105184181000_ref49
  article-title: In vivo functional study of disease-associated rare human variants using Drosophila
  publication-title: J. Vis. Exp.
  contributor:
    fullname: Harnish
– volume: 103
  start-page: 245
  year: 2018
  ident: 2022090105184181000_ref53
  article-title: IRF2BPL is associated with neurological phenotypes
  publication-title: Am. J. Hum. Genet.
  doi: 10.1016/j.ajhg.2018.07.006
  contributor:
    fullname: Marcogliese
– volume: 99
  start-page: 201
  year: 2012
  ident: 2022090105184181000_ref21
  article-title: Exploiting Drosophila genetics to understand microRNA function and regulation
  publication-title: Curr. Top. Dev. Biol.
  doi: 10.1016/B978-0-12-387038-4.00008-2
  contributor:
    fullname: Dai
– volume: 47
  start-page: D506
  year: 2019
  ident: 2022090105184181000_ref66
  article-title: UniProt: a worldwide hub of protein knowledge
  publication-title: Nucleic Acids Res.
  doi: 10.1093/nar/gky1049
  contributor:
    fullname: Bateman
– volume: 31
  start-page: 15660
  year: 2011
  ident: 2022090105184181000_ref5
  article-title: A new prospero and microRNA-279 pathway restricts CO2 receptor neuron formation
  publication-title: J. Neurosci.
  doi: 10.1523/JNEUROSCI.2592-11.2011
  contributor:
    fullname: Hartl
– start-page: 434
  volume-title: Nature
  year: 2020
  ident: 2022090105184181000_ref59
  article-title: The mutational constraint spectrum quantified from variation in 141,456 humans
  contributor:
    fullname: Karczewski
– volume: 121–122
  start-page: 86
  year: 2017
  ident: 2022090105184181000_ref89
  article-title: Precision genome editing using CRISPR-Cas9 and linear repair templates in C. elegans
  publication-title: Methods
  doi: 10.1016/j.ymeth.2017.03.023
  contributor:
    fullname: Paix
– volume: 163
  start-page: 12
  year: 2015
  ident: 2022090105184181000_ref79
  article-title: Morgan’s legacy: fruit flies and the functional annotation of conserved genes
  publication-title: Cell
  doi: 10.1016/j.cell.2015.09.009
  contributor:
    fullname: Bellen
– volume: 56
  start-page: 5188
  year: 2019
  ident: 2022090105184181000_ref33
  article-title: FOXG1 regulates PRKAR2B transcriptionally and posttranscriptionally via miR200 in the adult hippocampus
  publication-title: Mol. Neurobiol.
  doi: 10.1007/s12035-018-1444-7
  contributor:
    fullname: Weise
– volume: 24
  start-page: 1951
  year: 2010
  ident: 2022090105184181000_ref99
  article-title: Canonical and alternate functions of the microRNA biogenesis machinery
  publication-title: Genes Dev.
  doi: 10.1101/gad.1953310
  contributor:
    fullname: Chong
– volume: 127
  start-page: 851
  year: 2000
  ident: 2022090105184181000_ref81
  article-title: Analysis of Drosophila photoreceptor axon guidance in eye-specific mosaics
  publication-title: Development
  doi: 10.1242/dev.127.4.851
  contributor:
    fullname: Newsome
– volume: 118
  start-page: 401
  year: 1993
  ident: 2022090105184181000_ref80
  article-title: Targeted gene expression as a means of altering cell fates and generating dominant phenotypes
  publication-title: Development
  doi: 10.1242/dev.118.2.401
  contributor:
    fullname: Brand
– volume: 40
  start-page: W452
  year: 2012
  ident: 2022090105184181000_ref61
  article-title: SIFT web server: predicting effects of amino acid substitutions on proteins
  publication-title: Nucleic Acids Res.
  doi: 10.1093/nar/gks539
  contributor:
    fullname: Sim
– volume: 9
  start-page: 403
  year: 2005
  ident: 2022090105184181000_ref86
  article-title: The let-7 MicroRNA Family Members mir-48, mir-84, and mir-241 function together to regulate developmental timing in Caenorhabditis elegans
  publication-title: Dev. Cell
  doi: 10.1016/j.devcel.2005.07.009
  contributor:
    fullname: Abbott
– volume: 9
  start-page: 1694
  year: 1995
  ident: 2022090105184181000_ref103
  article-title: The head involution defective gene of Drosophila melanogaster functions in programmed cell death
  publication-title: Genes Dev.
  doi: 10.1101/gad.9.14.1694
  contributor:
    fullname: Grether
– volume: 50
  start-page: 24
  year: 2018
  ident: 2022090105184181000_ref47
  article-title: Genetic strategies to tackle neurological diseases in fruit flies
  publication-title: Curr. Opin. Neurobiol.
  doi: 10.1016/j.conb.2017.10.017
  contributor:
    fullname: Şentürk
– volume: 103
  start-page: 553
  year: 2018
  ident: 2022090105184181000_ref54
  article-title: A recurrent de novo heterozygous COG4 substitution leads to Saul-Wilson syndrome, disrupted vesicular trafficking, and altered proteoglycan glycosylation
  publication-title: Am. J. Hum. Genet.
  doi: 10.1016/j.ajhg.2018.09.003
  contributor:
    fullname: Ferreira
– volume: 99
  start-page: 991
  year: 2016
  ident: 2022090105184181000_ref58
  article-title: De novo truncating variants in ASXL2 are associated with a unique and recognizable clinical phenotype
  publication-title: Am. J. Hum. Genet.
  doi: 10.1016/j.ajhg.2016.08.017
  contributor:
    fullname: Shashi
– volume: 10
  start-page: 700
  year: 2019
  ident: 2022090105184181000_ref68
  article-title: Unraveling novel mechanisms of neurodegeneration through a large-scale forward genetic screen in Drosophila
  publication-title: Front. Genet.
  doi: 10.3389/fgene.2018.00700
  contributor:
    fullname: Deal
– volume: 95
  start-page: 10779
  year: 1998
  ident: 2022090105184181000_ref104
  article-title: A modifier screen in the eye reveals control genes for Kruppel activity in the Drosophila embryo
  publication-title: Proc. Natl. Acad. Sci.
  doi: 10.1073/pnas.95.18.10779
  contributor:
    fullname: Carrera
– volume: 105
  start-page: 9715
  year: 2008
  ident: 2022090105184181000_ref107
  article-title: Tools for neuroanatomy and neurogenetics in Drosophila
  publication-title: Proc. Natl. Acad. Sci. U. S. A.
  doi: 10.1073/pnas.0803697105
  contributor:
    fullname: Pfeiffer
– volume: 425
  start-page: 415
  year: 2003
  ident: 2022090105184181000_ref93
  article-title: The nuclear RNase III Drosha initiates microRNA processing
  publication-title: Nature
  doi: 10.1038/nature01957
  contributor:
    fullname: Lee
– volume: 379
  start-page: 2131
  year: 2018
  ident: 2022090105184181000_ref48
  article-title: Effect of genetic diagnosis on patients with previously undiagnosed disease
  publication-title: N. Engl. J. Med.
  doi: 10.1056/NEJMoa1714458
  contributor:
    fullname: Splinter
– volume: 152
  start-page: 1631
  year: 1999
  ident: 2022090105184181000_ref74
  article-title: A genetic method for generating Drosophila eyes composed exclusively of mitotic clones of a single genotype
  publication-title: Genetics
  doi: 10.1093/genetics/152.4.1631
  contributor:
    fullname: Stowers
– volume: 117
  start-page: 1223
  year: 1993
  ident: 2022090105184181000_ref75
  article-title: Analysis of genetic mosaics in developing and adult Drosophila tissues
  publication-title: Development
  doi: 10.1242/dev.117.4.1223
  contributor:
    fullname: Xu
– volume: 2
  start-page: e873
  year: 2007
  ident: 2022090105184181000_ref30
  article-title: Brain expressed microRNAs implicated in schizophrenia etiology
  publication-title: PLoS One
  doi: 10.1371/journal.pone.0000873
  contributor:
    fullname: Hansen
– volume: 5
  start-page: 4802
  year: 2014
  ident: 2022090105184181000_ref12
  article-title: Somatic mutations in DROSHA and DICER1 impair microRNA biogenesis through distinct mechanisms in Wilms tumours
  publication-title: Nat. Commun.
  doi: 10.1038/ncomms5802
  contributor:
    fullname: Rakheja
– volume: 104
  start-page: 422
  year: 2019
  ident: 2022090105184181000_ref55
  article-title: Bi-allelic variants in TONSL cause SPONASTRIME dysplasia and a spectrum of skeletal dysplasia phenotypes
  publication-title: Am. J. Hum. Genet.
  doi: 10.1016/j.ajhg.2019.01.007
  contributor:
    fullname: Burrage
– volume: 136
  start-page: 75
  year: 2009
  ident: 2022090105184181000_ref98
  article-title: Posttranscriptional crossregulation between Drosha and DGCR8
  publication-title: Cell
  doi: 10.1016/j.cell.2008.10.053
  contributor:
    fullname: Han
– volume: 369
  start-page: 1502
  year: 2013
  ident: 2022090105184181000_ref39
  article-title: Clinical whole-exome sequencing for the diagnosis of mendelian disorders
  publication-title: N. Engl. J. Med.
  doi: 10.1056/NEJMoa1306555
  contributor:
    fullname: Yang
– volume: 105
  start-page: 413
  year: 2019
  ident: 2022090105184181000_ref52
  article-title: De novo variants in WDR37 are associated with epilepsy, colobomas, dysmorphism, developmental delay, intellectual disability, and cerebellar hypoplasia
  publication-title: Am. J. Hum. Genet.
  doi: 10.1016/j.ajhg.2019.06.014
  contributor:
    fullname: Kanca
– volume: 432
  start-page: 231
  year: 2004
  ident: 2022090105184181000_ref9
  article-title: Processing of primary microRNAs by the microprocessor complex
  publication-title: Nature
  doi: 10.1038/nature03049
  contributor:
    fullname: Denli
– volume: 46
  start-page: 310
  year: 2014
  ident: 2022090105184181000_ref63
  article-title: A general framework for estimating the relative pathogenicity of human genetic variants
  publication-title: Nat. Genet.
  doi: 10.1038/ng.2892
  contributor:
    fullname: Kircher
– volume: 31
  start-page: 422
  year: 2017
  ident: 2022090105184181000_ref15
  article-title: A microRNA family exerts maternal control on sex determination in C. elegans
  publication-title: Genes Dev.
  doi: 10.1101/gad.290155.116
  contributor:
    fullname: McJunkin
– volume: 54
  start-page: 12
  year: 2014
  ident: 2022090105184181000_ref95
  article-title: Human diseases caused by germline and somatic abnormalities in microRNA and microRNA-related genes
  publication-title: Congenit. Anom. (Kyoto).
  doi: 10.1111/cga.12043
  contributor:
    fullname: Kawahara
– volume: 426
  start-page: 115
  year: 2017
  ident: 2022090105184181000_ref92
  article-title: Functional analysis of microRNA pathway genes in the somatic gonad and germ cells during ovulation in C. elegans
  publication-title: Dev. Biol.
  doi: 10.1016/j.ydbio.2017.04.007
  contributor:
    fullname: Rios
– volume: 100
  start-page: 128
  year: 2017
  ident: 2022090105184181000_ref50
  article-title: A syndromic neurodevelopmental disorder caused by de novo variants in EBF3
  publication-title: Am. J. Hum. Genet.
  doi: 10.1016/j.ajhg.2016.11.018
  contributor:
    fullname: Chao
– volume: 21
  start-page: 4663
  year: 2002
  ident: 2022090105184181000_ref6
  article-title: MicroRNA maturation: stepwise processing and subcellular localization
  publication-title: EMBO J.
  doi: 10.1093/emboj/cdf476
  contributor:
    fullname: Lee
– volume: 204
  start-page: 1553
  year: 2007
  ident: 2022090105184181000_ref22
  article-title: Cerebellar neurodegeneration in the absence of microRNAs
  publication-title: J. Exp. Med.
  doi: 10.1084/jem.20070823
  contributor:
    fullname: Schaefer
– volume: 104
  start-page: 3312
  year: 2007
  ident: 2022090105184181000_ref106
  article-title: An optimized transgenesis system for Drosophila using germ-line-specific C31 integrases
  publication-title: Proc. Natl. Acad. Sci.
  doi: 10.1073/pnas.0611511104
  contributor:
    fullname: Bischof
– volume: 105
  start-page: 5614
  year: 2008
  ident: 2022090105184181000_ref25
  article-title: Dicer loss in striatal neurons produces behavioral and neuroanatomical phenotypes in the absence of neurodegeneration
  publication-title: Proc. Natl. Acad. Sci. U. S. A.
  doi: 10.1073/pnas.0801689105
  contributor:
    fullname: Cuellar
– volume: 106
  start-page: 23
  year: 2001
  ident: 2022090105184181000_ref16
  article-title: Genes and mechanisms related to RNA interference regulate expression of the small temporal RNAs that control C. elegans developmental timing
  publication-title: Cell
  doi: 10.1016/S0092-8674(01)00431-7
  contributor:
    fullname: Grishok
– volume: 581
  start-page: 434
  year: 2020
  ident: 2022090105184181000_ref41
  article-title: The mutational constraint spectrum quantified from variation in 141,456 humans
  publication-title: Nature
  doi: 10.1038/s41586-020-2308-7
  contributor:
    fullname: Karczewski
– volume: 102
  start-page: 494
  year: 2018
  ident: 2022090105184181000_ref51
  article-title: Biallelic mutations in ATP5F1D, which encodes a subunit of ATP synthase, cause a metabolic disorder
  publication-title: Am. J. Hum. Genet.
  doi: 10.1016/j.ajhg.2018.01.020
  contributor:
    fullname: Oláhová
– volume: 141
  start-page: 118
  year: 2017
  ident: 2022090105184181000_ref96
  article-title: MicroRNA: basic concepts and implications for regeneration and repair of neurodegenerative diseases
  publication-title: Biochem. Pharmacol.
  doi: 10.1016/j.bcp.2017.07.008
  contributor:
    fullname: Saraiva
– volume: 75
  start-page: 843
  year: 1993
  ident: 2022090105184181000_ref17
  article-title: The C. elegans heterochronic gene lin-4 encodes small RNAs with antisense complementarity to lin-14
  publication-title: Cell
  doi: 10.1016/0092-8674(93)90529-Y
  contributor:
    fullname: Lee
– volume: 454
  start-page: 56
  year: 2008
  ident: 2022090105184181000_ref8
  article-title: SMAD proteins control DROSHA-mediated microRNA maturation
  publication-title: Nature
  doi: 10.1038/nature07086
  contributor:
    fullname: Davis
– volume: 55
  start-page: 85
  year: 1971
  ident: 2022090105184181000_ref83
  article-title: Separation of receptor and lamina potentials in the electroretinogram of normal and mutant Drosophila
  publication-title: J. Exp. Biol.
  doi: 10.1242/jeb.55.1.85
  contributor:
    fullname: Heisenberg
– volume: 97
  start-page: 865
  year: 1999
  ident: 2022090105184181000_ref102
  article-title: Autonomous control of cell and organ size by CHICO, a Drosophila homolog of vertebrate IRS1–4
  publication-title: Cell
  doi: 10.1016/S0092-8674(00)80799-0
  contributor:
    fullname: Böhni
– volume: 62
  start-page: 15
  year: 2020
  ident: 2022090105184181000_ref100
  article-title: Making sense out of missense mutations: mechanistic dissection of Notch receptors through structure-function studies in Drosophila
  publication-title: Dev. Growth Differ.
  doi: 10.1111/dgd.12640
  contributor:
    fullname: Yamamoto
– volume: 403
  start-page: 901
  year: 2000
  ident: 2022090105184181000_ref88
  article-title: The 21-nucleotide let-7 RNA regulates developmental timing in Caenorhabditis elegans
  publication-title: Nature
  doi: 10.1038/35002607
  contributor:
    fullname: Reinhart
– volume: 150
  start-page: e59542
  year: 2019
  ident: 2022090105184181000_ref57
  article-title: Navigating MARRVEL, a web-based tool that integrates human genomics and model organism genetics information
  publication-title: J. Vis. Exp.
  contributor:
    fullname: Wang
– volume: 12
  start-page: 357
  year: 2011
  ident: 2022090105184181000_ref65
  article-title: An integrative approach to ortholog prediction for disease-focused and other functional studies
  publication-title: BMC Bioinformatics
  doi: 10.1186/1471-2105-12-357
  contributor:
    fullname: Hu
– volume: 294
  start-page: 862
  year: 2001
  ident: 2022090105184181000_ref85
  article-title: An extensive class of small RNAs in Caenorhabditis elegans
  publication-title: Science (80-)
  doi: 10.1126/science.1065329
  contributor:
    fullname: Lee
– volume: 159
  start-page: 200
  year: 2014
  ident: 2022090105184181000_ref69
  article-title: A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases
  publication-title: Cell
  doi: 10.1016/j.cell.2014.09.002
  contributor:
    fullname: Yamamoto
– volume: 18
  start-page: 130
  year: 2008
  ident: 2022090105184181000_ref31
  article-title: MicroRNAs (miRNAs) in neurodegenerative diseases
  publication-title: Brain Pathol.
  doi: 10.1111/j.1750-3639.2007.00120.x
  contributor:
    fullname: Nelson
– volume: 6
  start-page: a023168
  year: 2015
  ident: 2022090105184181000_ref38
  article-title: Whole-exome sequencing and whole-genome sequencing in critically ill neonates suspected to have single-gene disorders
  publication-title: Cold Spring Harb. Perspect. Med.
  doi: 10.1101/cshperspect.a023168
  contributor:
    fullname: Smith
– volume: 2
  start-page: 7
  year: 2009
  ident: 2022090105184181000_ref94
  article-title: microRNAs and genetic diseases
  publication-title: Pathogenetics
  doi: 10.1186/1755-8417-2-7
  contributor:
    fullname: Meola
– volume: 15
  start-page: 165
  year: 2018
  ident: 2022090105184181000_ref19
  article-title: Maternal effects of microRNAs in early embryogenesis
  publication-title: RNA Biol.
  doi: 10.1080/15476286.2017.1402999
  contributor:
    fullname: McJunkin
– volume: 314
  start-page: 1747
  year: 2006
  ident: 2022090105184181000_ref72
  article-title: P[acman]: a BAC transgenic platform for targeted insertion of large DNA fragments in D. melanogaster
  publication-title: Science (80-)
  doi: 10.1126/science.1134426
  contributor:
    fullname: Venken
– volume: 2
  start-page: 437
  year: 2012
  ident: 2022090105184181000_ref10
  article-title: A systematic genetic screen to dissect the microRNA pathway in Drosophila
  publication-title: G3 (Bethesda)
  doi: 10.1534/g3.112.002030
  contributor:
    fullname: Pressman
– volume: 46
  start-page: D1062
  year: 2018
  ident: 2022090105184181000_ref60
  article-title: ClinVar: improving access to variant interpretations and supporting evidence
  publication-title: Nucleic Acids Res.
  doi: 10.1093/nar/gkx1153
  contributor:
    fullname: Landrum
– volume: 294
  start-page: 858
  year: 2001
  ident: 2022090105184181000_ref2
  article-title: An abundant class of tiny RNAs with probable regulatory roles in Caenorhabditis elegans
  publication-title: Science
  doi: 10.1126/science.1065062
  contributor:
    fullname: Lau
– volume: 28
  start-page: 4878
  year: 2008
  ident: 2022090105184181000_ref24
  article-title: Dicer inactivation leads to progressive functional and structural degeneration of the mouse retina
  publication-title: J. Neurosci.
  doi: 10.1523/JNEUROSCI.0828-08.2008
  contributor:
    fullname: Damiani
– volume: 47
  start-page: D886
  year: 2019
  ident: 2022090105184181000_ref64
  article-title: CADD: predicting the deleteriousness of variants throughout the human genome
  publication-title: Nucleic Acids Res.
  doi: 10.1093/nar/gky1016
  contributor:
    fullname: Rentzsch
– volume: 365
  start-page: 384
  year: 2012
  ident: 2022090105184181000_ref14
  article-title: Drosophila Argonaute 1 and its miRNA biogenesis partners are required for oocyte formation and germline cell division
  publication-title: Dev. Biol.
  doi: 10.1016/j.ydbio.2012.03.005
  contributor:
    fullname: Azzam
– volume: 12
  start-page: e1006327
  year: 2016
  ident: 2022090105184181000_ref77
  article-title: Rare functional variant in TM2D3 is associated with late-onset Alzheimer’s disease
  publication-title: PLoS Genet.
  doi: 10.1371/journal.pgen.1006327
  contributor:
    fullname: Jakobsdottir
– volume: 68
  start-page: 2594
  year: 1971
  ident: 2022090105184181000_ref67
  article-title: Imaginal disc abnormalities in lethal mutants of Drosophila
  publication-title: Proc. Natl. Acad. Sci. U. S. A.
  doi: 10.1073/pnas.68.10.2594
  contributor:
    fullname: Shearn
– volume: 175
  start-page: 1931
  year: 2018
  ident: 2022090105184181000_ref70
  article-title: Comparative flavivirus-host protein interaction mapping reveals mechanisms of dengue and Zika virus pathogenesis
  publication-title: Cell
  doi: 10.1016/j.cell.2018.11.028
  contributor:
    fullname: Shah
– volume: 36
  start-page: 928
  year: 2015
  ident: 2022090105184181000_ref44
  article-title: GeneMatcher: a matching tool for connecting investigators with an interest in the same gene
  publication-title: Hum. Mutat.
  doi: 10.1002/humu.22844
  contributor:
    fullname: Sobreira
– volume: 6
  start-page: pdb.prot5549
  year: 2011
  ident: 2022090105184181000_ref84
  article-title: Electroretinogram recordings of Drosophila
  publication-title: Cold Spring Harb Protoc
  doi: 10.1101/pdb.prot5549
  contributor:
    fullname: Dolph
– volume: 26
  start-page: 2965
  year: 2006
  ident: 2022090105184181000_ref37
  article-title: Genome-wide analysis of mRNAs regulated by Drosha and Argonaute proteins in Drosophila melanogaster
  publication-title: Mol. Cell. Biol.
  doi: 10.1128/MCB.26.8.2965-2975.2006
  contributor:
    fullname: Rehwinkel
– volume: 125
  start-page: 2263
  year: 1998
  ident: 2022090105184181000_ref105
  article-title: Identifying loci required for follicular patterning using directed mosaics
  publication-title: Development
  doi: 10.1242/dev.125.12.2263
  contributor:
    fullname: Duffy
– volume: 28
  start-page: 547
  year: 2014
  ident: 2022090105184181000_ref35
  article-title: MeCP2 suppresses nuclear microRNA processing and dendritic growth by regulating the DGCR8/Drosha complex
  publication-title: Dev. Cell
  doi: 10.1016/j.devcel.2014.01.032
  contributor:
    fullname: Cheng
– volume: 43
  start-page: 1026
  year: 2011
  ident: 2022090105184181000_ref28
  article-title: Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humans
  publication-title: Nat. Genet.
  doi: 10.1038/ng.915
  contributor:
    fullname: De Pontual
– volume: 1066
  start-page: 141
  year: 2018
  ident: 2022090105184181000_ref78
  article-title: Integration of Drosophila and human genetics to understand Notch signaling related diseases
  publication-title: Adv. Exp. Med. Biol.
  doi: 10.1007/978-3-319-89512-3_8
  contributor:
    fullname: Salazar
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Snippet Abstract DROSHA encodes a ribonuclease that is a subunit of the Microprocessor complex and is involved in the first step of microRNA (miRNA) biogenesis. To...
DROSHA encodes a ribonuclease that is a subunit of the Microprocessor complex and is involved in the first step of microRNA (miRNA) biogenesis. To date, DROSHA...
DROSHA encodes a ribonuclease that is a subunit of the Microprocessor complex and is involved in the first step of microRNA (miRNA) biogenesis. To date, DROSHA...
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SubjectTerms Epilepsy
Humans
Intellectual Disability - genetics
Microcephaly - genetics
MicroRNAs - genetics
MicroRNAs - metabolism
Nervous System Malformations
Original
Ribonuclease III - genetics
Ribonuclease III - metabolism
Title The microRNA processor DROSHA is a candidate gene for a severe progressive neurological disorder
URI https://www.ncbi.nlm.nih.gov/pubmed/35405010
https://www.proquest.com/docview/2649592323
https://pubmed.ncbi.nlm.nih.gov/PMC9433733
Volume 31
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