-
1
-
-
84964575593
-
Disentangling sources of selection on exonic transcriptional enhancers
-
COI: 1:CAS:528:DC%2BC28XhtlantL7M, PID: 26500252
-
Agoglia RM, Fraser HB (2016) Disentangling sources of selection on exonic transcriptional enhancers. Mol Biol Evol 33:585–590
-
(2016)
Mol Biol Evol
, vol.33
, pp. 585-590
-
-
Agoglia, R.M.1
Fraser, H.B.2
-
2
-
-
64849109747
-
A computational approach for genome-wide mapping of splicing factor binding sites
-
PID: 19296853
-
Akerman M, David-Eden H, Pinter RY, Mandel-Gutfreund Y (2009) A computational approach for genome-wide mapping of splicing factor binding sites. Genome Biol 10:R30
-
(2009)
Genome Biol
, vol.10
, pp. R30
-
-
Akerman, M.1
David-Eden, H.2
Pinter, R.Y.3
Mandel-Gutfreund, Y.4
-
3
-
-
34247360831
-
Global analysis of exon creation versus loss and the role of alternative splicing in 17 vertebrate genomes
-
COI: 1:CAS:528:DC%2BD2sXltVakur8%3D, PID: 17369312
-
Alekseyenko AV, Kim N, Lee CJ (2007) Global analysis of exon creation versus loss and the role of alternative splicing in 17 vertebrate genomes. RNA 13:661–670
-
(2007)
RNA
, vol.13
, pp. 661-670
-
-
Alekseyenko, A.V.1
Kim, N.2
Lee, C.J.3
-
4
-
-
84861694712
-
Differential GC content between exons and introns establishes distinct strategies of splice-site recognition
-
COI: 1:CAS:528:DC%2BC38XotlWlu7g%3D, PID: 22832277
-
Amit M et al (2012) Differential GC content between exons and introns establishes distinct strategies of splice-site recognition. Cell Rep 1:543–556
-
(2012)
Cell Rep
, vol.1
, pp. 543-556
-
-
Amit, M.1
-
5
-
-
0001553024
-
Function without purpose: the uses of causal role function in evolutionary biology
-
Amundson R, Lauder GV (1994) Function without purpose: the uses of causal role function in evolutionary biology. Biol Philos 9:443–469
-
(1994)
Biol Philos
, vol.9
, pp. 443-469
-
-
Amundson, R.1
Lauder, G.V.2
-
6
-
-
70349333201
-
Nucleosomes are well positioned in exons and carry characteristic histone modifications
-
COI: 1:CAS:528:DC%2BD1MXht1GjtbzL, PID: 19687145
-
Andersson R, Enroth S, Rada-Iglesias A, Wadelius C, Komorowski J (2009) Nucleosomes are well positioned in exons and carry characteristic histone modifications. Genome Res 19:1732–1741
-
(2009)
Genome Res
, vol.19
, pp. 1732-1741
-
-
Andersson, R.1
Enroth, S.2
Rada-Iglesias, A.3
Wadelius, C.4
Komorowski, J.5
-
7
-
-
84904469265
-
Regulation of gene expression programmes by serine-arginine rich splicing factors
-
PID: 24657192
-
Änkö ML (2014) Regulation of gene expression programmes by serine-arginine rich splicing factors. Semin Cell Dev Biol 32:11–21
-
(2014)
Semin Cell Dev Biol
, vol.32
, pp. 11-21
-
-
Änkö, M.L.1
-
8
-
-
0038744296
-
Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies
-
COI: 1:CAS:528:DC%2BD3sXjslagtbg%3D, PID: 12677558
-
Antoniou A et al (2003) Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies. Am J Hum Genet 72:1117–1130
-
(2003)
Am J Hum Genet
, vol.72
, pp. 1117-1130
-
-
Antoniou, A.1
-
9
-
-
84879684637
-
Genome-wide inference of natural selection on human transcription factor binding sites
-
COI: 1:CAS:528:DC%2BC3sXptVagt7o%3D, PID: 23749186
-
Arbiza L, Gronau I, Aksoy BA, Hubisz MJ, Gulko B, Keinan A, Siepel A (2013) Genome-wide inference of natural selection on human transcription factor binding sites. Nat Genet 45:723–729
-
(2013)
Nat Genet
, vol.45
, pp. 723-729
-
-
Arbiza, L.1
Gronau, I.2
Aksoy, B.A.3
Hubisz, M.J.4
Gulko, B.5
Keinan, A.6
Siepel, A.7
-
10
-
-
32244436130
-
Sequence-specific recognition of RNA hairpins by the SAM domain of Vts1p
-
COI: 1:CAS:528:DC%2BD28XhtFajtrw%3D, PID: 16429151
-
Aviv T, Lin Z, Ben-Ari G, Smibert CA, Sicheri F (2006) Sequence-specific recognition of RNA hairpins by the SAM domain of Vts1p. Nat Struct Mol Biol 13:168–176
-
(2006)
Nat Struct Mol Biol
, vol.13
, pp. 168-176
-
-
Aviv, T.1
Lin, Z.2
Ben-Ari, G.3
Smibert, C.A.4
Sicheri, F.5
-
11
-
-
17344363640
-
A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B
-
COI: 1:CAS:528:DyaK1cXmtVOmt7Y%3D, PID: 9731527
-
Bashir R et al (1998) A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B. Nat Genet 20:37–42
-
(1998)
Nat Genet
, vol.20
, pp. 37-42
-
-
Bashir, R.1
-
12
-
-
84908332907
-
Systematic dissection of coding exons at single nucleotide resolution supports an additional role in cell-specific transcriptional regulation
-
PID: 25340400
-
Birnbaum RY et al (2014) Systematic dissection of coding exons at single nucleotide resolution supports an additional role in cell-specific transcriptional regulation. PLoS Genet 10:e1004592
-
(2014)
PLoS Genet
, vol.10
-
-
Birnbaum, R.Y.1
-
13
-
-
0038101450
-
Haemophilias A and B
-
COI: 1:CAS:528:DC%2BD3sXktVOns7Y%3D, PID: 12781551
-
Bolton-Maggs PHB, Pasi KJ (2003) Haemophilias A and B. Lancet 361:1801–1809
-
(2003)
Lancet
, vol.361
, pp. 1801-1809
-
-
Bolton-Maggs, P.H.B.1
Pasi, K.J.2
-
14
-
-
79958071334
-
Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome
-
COI: 1:CAS:528:DC%2BC3MXntlyksLk%3D, PID: 21642682
-
Bonadona V et al (2011) Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome. JAMA 305:2304–2310
-
(2011)
JAMA
, vol.305
, pp. 2304-2310
-
-
Bonadona, V.1
-
15
-
-
47149083097
-
Screening BRCA1 and BRCA2 unclassified variants for splicing mutations using reverse transcription PCR on patient RNA and an ex vivo assay based on a splicing reporter minigene
-
COI: 1:CAS:528:DC%2BD1cXpsFOqtbc%3D, PID: 18424508
-
Bonnet C et al (2008) Screening BRCA1 and BRCA2 unclassified variants for splicing mutations using reverse transcription PCR on patient RNA and an ex vivo assay based on a splicing reporter minigene. J Med Genet 45:438–446
-
(2008)
J Med Genet
, vol.45
, pp. 438-446
-
-
Bonnet, C.1
-
16
-
-
44949129000
-
Assessing the evolutionary impact of amino acid mutations in the human genome
-
PID: 18516229
-
Boyko AR et al (2008) Assessing the evolutionary impact of amino acid mutations in the human genome. PLoS Genet 4:e1000083
-
(2008)
PLoS Genet
, vol.4
-
-
Boyko, A.R.1
-
17
-
-
84967225586
-
The Meaning of NMD: translate or Perish
-
COI: 1:CAS:528:DC%2BC28XnslansL4%3D, PID: 27185236
-
Brogna S, McLeod T, Petric M (2016) The Meaning of NMD: translate or Perish. Trends Genet 32:395–407
-
(2016)
Trends Genet
, vol.32
, pp. 395-407
-
-
Brogna, S.1
McLeod, T.2
Petric, M.3
-
18
-
-
0028221943
-
Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer
-
COI: 1:CAS:528:DyaK2cXktVKht7c%3D, PID: 8145827
-
Bronner CE, Baker SM, Morrison PT, Warren G, Smith LG, Lescoe MK, Kane M, Earabino C, Lipford J, Lindblom A, Tannergård P, Bollag RJ, Godwin AR, Ward DC, Nordenskjøld M, Fishel R, Kolodner R, Liskay RM (1994) Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer. Nature 368(6468):258–261
-
(1994)
Nature
, vol.368
, Issue.6468
, pp. 258-261
-
-
Bronner, C.E.1
Baker, S.M.2
Morrison, P.T.3
Warren, G.4
Smith, L.G.5
Lescoe, M.K.6
Kane, M.7
Earabino, C.8
Lipford, J.9
Lindblom, A.10
Tannergård, P.11
Bollag, R.J.12
Godwin, A.R.13
Ward, D.C.14
Nordenskjøld, M.15
Fishel, R.16
Kolodner, R.17
Liskay, R.M.18
-
19
-
-
84890527710
-
The evolution, impact and properties of exonic splice enhancers
-
Cáceres EF, Hurst LD (2013) The evolution, impact and properties of exonic splice enhancers. Genome Biol 14:1–18
-
(2013)
Genome Biol
, vol.14
, pp. 1-18
-
-
Cáceres, E.F.1
Hurst, L.D.2
-
20
-
-
84991281534
-
Backmasking in the yeast genome: encoding overlapping information for protein-coding and RNA degradation
-
COI: 1:CAS:528:DC%2BC28XhvFClsrzM, PID: 27492286
-
Cakiroglu SA, Zaugg JB, Luscombe NM (2016) Backmasking in the yeast genome: encoding overlapping information for protein-coding and RNA degradation. Nucleic Acids Res 44:8065–8072
-
(2016)
Nucleic Acids Res
, vol.44
, pp. 8065-8072
-
-
Cakiroglu, S.A.1
Zaugg, J.B.2
Luscombe, N.M.3
-
21
-
-
31844449496
-
Synonymous SNPs provide evidence for selective constraint on human exonic splicing enhancers
-
COI: 1:CAS:528:DC%2BD28XhtFWms70%3D, PID: 16320116
-
Carlini DB, Genut JE (2006) Synonymous SNPs provide evidence for selective constraint on human exonic splicing enhancers. J Mol Evol 62:89–98
-
(2006)
J Mol Evol
, vol.62
, pp. 89-98
-
-
Carlini, D.B.1
Genut, J.E.2
-
22
-
-
60349093708
-
Fundamental concepts in genetics: effective population size and patterns of molecular evolution and variation
-
COI: 1:CAS:528:DC%2BD1MXhvFGlu7s%3D, PID: 19204717
-
Charlesworth B (2009) Fundamental concepts in genetics: effective population size and patterns of molecular evolution and variation. Nat Rev Genet 10:195–205
-
(2009)
Nat Rev Genet
, vol.10
, pp. 195-205
-
-
Charlesworth, B.1
-
23
-
-
0025242929
-
Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis
-
COI: 1:CAS:528:DyaK3MXnvFKguw%3D%3D, PID: 1699669
-
Cheng SH et al (1990) Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis. Cell 63:827–834
-
(1990)
Cell
, vol.63
, pp. 827-834
-
-
Cheng, S.H.1
-
24
-
-
0028274042
-
Protection from Fas-mediated apoptosis by a soluble form of the Fas molecule
-
COI: 1:CAS:528:DyaK2cXktVentL8%3D, PID: 7510905
-
Cheng J et al (1994) Protection from Fas-mediated apoptosis by a soluble form of the Fas molecule. Science 263:1759–1762
-
(1994)
Science
, vol.263
, pp. 1759-1762
-
-
Cheng, J.1
-
25
-
-
77954659099
-
Relationship between nucleosome positioning and DNA methylation
-
COI: 1:CAS:528:DC%2BC3cXmslWmu78%3D, PID: 20512117
-
Chodavarapu RK et al (2010) Relationship between nucleosome positioning and DNA methylation. Nature 466:388–392
-
(2010)
Nature
, vol.466
, pp. 388-392
-
-
Chodavarapu, R.K.1
-
26
-
-
56749117987
-
Mid-frequency DFNA8/12 hearing loss caused by a synonymous TECTA mutation that affects an exonic splice enhancer
-
COI: 1:CAS:528:DC%2BD1cXhsVSjs7jK, PID: 18575463
-
Collin RW et al (2008) Mid-frequency DFNA8/12 hearing loss caused by a synonymous TECTA mutation that affects an exonic splice enhancer. Eur J Hum Genet 16:1430–1436
-
(2008)
Eur J Hum Genet
, vol.16
, pp. 1430-1436
-
-
Collin, R.W.1
-
27
-
-
84922454174
-
High-throughput characterization of protein-RNA interactions
-
Cook KB, Hughes TR, Morris QD (2015) High-throughput characterization of protein-RNA interactions. Brief Funct Genom 14:74–89
-
(2015)
Brief Funct Genom
, vol.14
, pp. 74-89
-
-
Cook, K.B.1
Hughes, T.R.2
Morris, Q.D.3
-
28
-
-
27944439248
-
Use of minigene systems to dissect alternative splicing elements
-
COI: 1:CAS:528:DC%2BD2MXht1OnurrN, PID: 16314262
-
Cooper TA (2005) Use of minigene systems to dissect alternative splicing elements. Methods 37:331–340
-
(2005)
Methods
, vol.37
, pp. 331-340
-
-
Cooper, T.A.1
-
29
-
-
0000798871
-
Functional Analysis
-
Cummins R (1975) Functional Analysis. J Philos 72:741–765
-
(1975)
J Philos
, vol.72
, pp. 741-765
-
-
Cummins, R.1
-
30
-
-
84904462273
-
Reciprocal regulatory links between cotranscriptional splicing and chromatin
-
PID: 24657193
-
de Almeida SF, Carmo-Fonseca M (2014) Reciprocal regulatory links between cotranscriptional splicing and chromatin. Semin Cell Dev Biol 32:2–10
-
(2014)
Semin Cell Dev Biol
, vol.32
, pp. 2-10
-
-
de Almeida, S.F.1
Carmo-Fonseca, M.2
-
31
-
-
33845895301
-
Compensatory relationship between splice sites and exonic splicing signals depending on the length of vertebrate introns
-
Dewey CN, Rogozin IB, Koonin EV (2006) Compensatory relationship between splice sites and exonic splicing signals depending on the length of vertebrate introns. BMC Genom 7:311
-
(2006)
BMC Genom
, vol.7
, pp. 311
-
-
Dewey, C.N.1
Rogozin, I.B.2
Koonin, E.V.3
-
32
-
-
84885434679
-
Functional analysis of a large set of BRCA2 exon 7 variants highlights the predictive value of hexamer scores in detecting alterations of exonic splicing regulatory elements
-
PID: 23983145
-
Di Giacomo D, Gaildrat P, Abuli A, Abdat J, Frebourg T, Tosi M, Martins A (2013) Functional analysis of a large set of BRCA2 exon 7 variants highlights the predictive value of hexamer scores in detecting alterations of exonic splicing regulatory elements. Hum Mutat 34:1547–1557
-
(2013)
Hum Mutat
, vol.34
, pp. 1547-1557
-
-
Di Giacomo, D.1
Gaildrat, P.2
Abuli, A.3
Abdat, J.4
Frebourg, T.5
Tosi, M.6
Martins, A.7
-
33
-
-
84875847924
-
Is junk DNA bunk? A critique of ENCODE
-
COI: 1:CAS:528:DC%2BC3sXntVehtLg%3D, PID: 23479647
-
Doolittle WF (2013) Is junk DNA bunk? A critique of ENCODE. Proc Natl Acad Sci USA 110:5294–5300
-
(2013)
Proc Natl Acad Sci USA
, vol.110
, pp. 5294-5300
-
-
Doolittle, W.F.1
-
34
-
-
0027433563
-
Genetic linkage analysis in familial breast and ovarian cancer: results from 214 families
-
COI: 1:CAS:528:DyaK2cXhtVemurs%3D, PID: 8460634
-
Easton DF, Bishop DT, Ford D, Crockford GP, The Breast Cancer Linkage Consortium (1993) Genetic linkage analysis in familial breast and ovarian cancer: results from 214 families. Am J Hum Genet 52:678–701
-
(1993)
Am J Hum Genet
, vol.52
, pp. 678-701
-
-
Easton, D.F.1
Bishop, D.T.2
Ford, D.3
Crockford, G.P.4
-
35
-
-
84868550433
-
The C-value paradox, junk DNA and ENCODE
-
COI: 1:CAS:528:DC%2BC38Xhs1aqtrnK, PID: 23137679
-
Eddy SR (2012) The C-value paradox, junk DNA and ENCODE. Curr Biol 22:R898–R899
-
(2012)
Curr Biol
, vol.22
, pp. R898-R899
-
-
Eddy, S.R.1
-
36
-
-
84876031068
-
The ENCODE project: missteps overshadowing a success
-
COI: 1:CAS:528:DC%2BC3sXlsFChu7Y%3D, PID: 23578867
-
Eddy SR (2013) The ENCODE project: missteps overshadowing a success. Curr Biol 23:R259–R261
-
(2013)
Curr Biol
, vol.23
, pp. R259-R261
-
-
Eddy, S.R.1
-
37
-
-
84865790047
-
An integrated encyclopedia of DNA elements in the human genome
-
ENCODE Project Consortium (2012) An integrated encyclopedia of DNA elements in the human genome. Nature 489:57–74
-
(2012)
Nature
, vol.489
, pp. 57-74
-
-
-
38
-
-
72649102150
-
Distributions of selectively constrained sites and deleterious mutation rates in the hominid and murid genomes
-
COI: 1:CAS:528:DC%2BD1MXhsFykt7%2FN, PID: 19759235
-
Eory L, Halligan DL, Keightley PD (2010) Distributions of selectively constrained sites and deleterious mutation rates in the hominid and murid genomes. Mol Biol Evol 27:177–192
-
(2010)
Mol Biol Evol
, vol.27
, pp. 177-192
-
-
Eory, L.1
Halligan, D.L.2
Keightley, P.D.3
-
39
-
-
34447546660
-
The distribution of fitness effects of new mutations
-
COI: 1:CAS:528:DC%2BD2sXnvVekt7s%3D, PID: 17637733
-
Eyre-Walker A, Keightley PD (2007) The distribution of fitness effects of new mutations. Nat Rev Genet 8:610–618
-
(2007)
Nat Rev Genet
, vol.8
, pp. 610-618
-
-
Eyre-Walker, A.1
Keightley, P.D.2
-
40
-
-
33745347447
-
The distribution of fitness effects of new deleterious amino acid mutations in humans
-
COI: 1:CAS:528:DC%2BD28Xns12qs7Y%3D, PID: 16547091
-
Eyre-Walker A, Woolfit M, Phelps T (2006) The distribution of fitness effects of new deleterious amino acid mutations in humans. Genetics 173:891–900
-
(2006)
Genetics
, vol.173
, pp. 891-900
-
-
Eyre-Walker, A.1
Woolfit, M.2
Phelps, T.3
-
41
-
-
0037047644
-
Predictive identification of exonic splicing enhancers in human genes
-
COI: 1:CAS:528:DC%2BD38Xmt1Ckt74%3D, PID: 12114529
-
Fairbrother WG, Yeh R-F, Sharp PA, Burge CB (2002) Predictive identification of exonic splicing enhancers in human genes. Science 297:1007–1013
-
(2002)
Science
, vol.297
, pp. 1007-1013
-
-
Fairbrother, W.G.1
Yeh, R.-F.2
Sharp, P.A.3
Burge, C.B.4
-
42
-
-
19344367734
-
Single nucleotide polymorphism-based validation of exonic splicing enhancers
-
PID: 15340491
-
Fairbrother WG, Holste D, Burge CB, Sharp PA (2004) Single nucleotide polymorphism-based validation of exonic splicing enhancers. PLoS Biol 2:E268
-
(2004)
PLoS Biol
, vol.2
, pp. E268
-
-
Fairbrother, W.G.1
Holste, D.2
Burge, C.B.3
Sharp, P.A.4
-
43
-
-
79952907985
-
The impact of miRNA target sites in coding sequences and in 3′UTRs
-
COI: 1:CAS:528:DC%2BC3MXktlChtbg%3D, PID: 21445367
-
Fang Z, Rajewski N (2011) The impact of miRNA target sites in coding sequences and in 3′UTRs. PloS One 6:e18067
-
(2011)
PloS One
, vol.6
-
-
Fang, Z.1
Rajewski, N.2
-
44
-
-
0027742295
-
The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer
-
COI: 1:CAS:528:DyaK2cXktVaitr8%3D, PID: 8252616
-
Fishel R et al (1993) The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer. Cell 75:1027–1038
-
(1993)
Cell
, vol.75
, pp. 1027-1038
-
-
Fishel, R.1
-
45
-
-
0029025441
-
Dominant interfering Fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome
-
COI: 1:CAS:528:DyaK2MXmsVagt7w%3D, PID: 7540117
-
Fisher GH et al (1995) Dominant interfering Fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome. Cell 81:935–946
-
(1995)
Cell
, vol.81
, pp. 935-946
-
-
Fisher, G.H.1
-
46
-
-
84914173890
-
Pre-mRNA splicing is facilitated by an optimal RNA polymerase II elongation rate
-
PID: 25452276
-
Fong N et al (2014) Pre-mRNA splicing is facilitated by an optimal RNA polymerase II elongation rate. Genes Dev 28:2663–2676
-
(2014)
Genes Dev
, vol.28
, pp. 2663-2676
-
-
Fong, N.1
-
47
-
-
54449097149
-
A search for conserved sequences in coding regions reveals that the let-7 microRNA targets Dicer within its coding sequence
-
COI: 1:CAS:528:DC%2BD1cXht1aqur7J, PID: 18812516
-
Forman JJ, Legesse-Miller A, Coller HA (2008) A search for conserved sequences in coding regions reveals that the let-7 microRNA targets Dicer within its coding sequence. Proc Natl Acad Sci USA 105:14879–14884
-
(2008)
Proc Natl Acad Sci USA
, vol.105
, pp. 14879-14884
-
-
Forman, J.J.1
Legesse-Miller, A.2
Coller, H.A.3
-
48
-
-
28044455878
-
The architecture of pre-mRNAs affects mechanisms of splice-site pairing
-
COI: 1:CAS:528:DC%2BD2MXht1CgurzO, PID: 16260721
-
Fox-Walsh KL, Dou Y, Lam BJ, Hung SP, Baldi PF, Hertel KJ (2005) The architecture of pre-mRNAs affects mechanisms of splice-site pairing. Proc Natl Acad Sci USA 102:16176–16181
-
(2005)
Proc Natl Acad Sci USA
, vol.102
, pp. 16176-16181
-
-
Fox-Walsh, K.L.1
Dou, Y.2
Lam, B.J.3
Hung, S.P.4
Baldi, P.F.5
Hertel, K.J.6
-
49
-
-
84922255144
-
Context-dependent control of alternative splicing by RNA-binding proteins
-
COI: 1:CAS:528:DC%2BC2cXhtlarurfK, PID: 25112293
-
Fu XD, Ares M Jr (2014) Context-dependent control of alternative splicing by RNA-binding proteins. Nat Rev Genet 15:689–701
-
(2014)
Nat Rev Genet
, vol.15
, pp. 689-701
-
-
Fu, X.D.1
Ares, M.2
-
50
-
-
0028062781
-
Cystic fibrosis heterozygote resistance to cholera toxin in the cystic fibrosis mouse model
-
COI: 1:CAS:528:DyaK2cXmsFejsbo%3D, PID: 7524148
-
Gabriel SE, Brigman KN, Koller BH, Boucher RC, Stutts MJ (1994) Cystic fibrosis heterozygote resistance to cholera toxin in the cystic fibrosis mouse model. Science 266:107–109
-
(1994)
Science
, vol.266
, pp. 107-109
-
-
Gabriel, S.E.1
Brigman, K.N.2
Koller, B.H.3
Boucher, R.C.4
Stutts, M.J.5
-
51
-
-
77953690065
-
Use of splicing reporter minigene assay to evaluate the effect on splicing of unclassified genetic variants
-
COI: 1:CAS:528:DC%2BC3cXht1KmtLrP, PID: 20721748
-
Gaildrat P, Killian A, Martins A, Tournier I, Frébourg T, Tosi M (2010) Use of splicing reporter minigene assay to evaluate the effect on splicing of unclassified genetic variants. Methods Mol Biol 653:249–257
-
(2010)
Methods Mol Biol
, vol.653
, pp. 249-257
-
-
Gaildrat, P.1
Killian, A.2
Martins, A.3
Tournier, I.4
Frébourg, T.5
Tosi, M.6
-
52
-
-
84870293904
-
Multiple sequence variants of BRCA2 exon 7 alter splicing regulation
-
COI: 1:CAS:528:DC%2BC38XhvVWhur%2FP, PID: 22962691
-
Gaildrat P et al (2012) Multiple sequence variants of BRCA2 exon 7 alter splicing regulation. J Med Genet 49:609–617
-
(2012)
J Med Genet
, vol.49
, pp. 609-617
-
-
Gaildrat, P.1
-
53
-
-
79957992453
-
Selected effects and causal role functions in the brain: the case for an etiological approach to neuroscience
-
Garson J (2011) Selected effects and causal role functions in the brain: the case for an etiological approach to neuroscience. Biol Philos 26:547–565
-
(2011)
Biol Philos
, vol.26
, pp. 547-565
-
-
Garson, J.1
-
54
-
-
84911006514
-
Junk or functional DNA? ENCODE and the function controversy
-
Germain P-L, Ratti E, Boem F (2014) Junk or functional DNA? ENCODE and the function controversy. Biol Philos 29:807–831
-
(2014)
Biol Philos
, vol.29
, pp. 807-831
-
-
Germain, P.-L.1
Ratti, E.2
Boem, F.3
-
55
-
-
0000103250
-
A modern history theory of functions
-
Godfrey-Smith P (1994) A modern history theory of functions. Noûs 28:344–362
-
(1994)
Noûs
, vol.28
, pp. 344-362
-
-
Godfrey-Smith, P.1
-
56
-
-
84871412366
-
Connections between chromatin signatures and splicing
-
COI: 1:CAS:528:DC%2BC38XhvVOrtLjN, PID: 23074139
-
Gomez Acuna LI, Fiszbein A, Allo M, Schor IE, Kornblihtt AR (2013) Connections between chromatin signatures and splicing. Wiley Interdiscip Rev RNA 4:77–91
-
(2013)
Wiley Interdiscip Rev RNA
, vol.4
, pp. 77-91
-
-
Gomez Acuna, L.I.1
Fiszbein, A.2
Allo, M.3
Schor, I.E.4
Kornblihtt, A.R.5
-
57
-
-
84875275808
-
On the immortality of television sets: “function” in the human genome according to the evolution-free gospel of ENCODE
-
PID: 23431001
-
Graur D, Zheng Y, Price N, Azevedo RB, Zufall RA, Elhaik E (2013) On the immortality of television sets: “function” in the human genome according to the evolution-free gospel of ENCODE. Genome Biol Evol 5:578–590
-
(2013)
Genome Biol Evol
, vol.5
, pp. 578-590
-
-
Graur, D.1
Zheng, Y.2
Price, N.3
Azevedo, R.B.4
Zufall, R.A.5
Elhaik, E.6
-
58
-
-
84940107361
-
An evolutionary classification of genomic function
-
COI: 1:CAS:528:DC%2BC2MXlvFKjtbg%3D, PID: 25635041
-
Graur D, Zheng Y, Azevedo RB (2015) An evolutionary classification of genomic function. Genome Biol Evol 7:642–645
-
(2015)
Genome Biol Evol
, vol.7
, pp. 642-645
-
-
Graur, D.1
Zheng, Y.2
Azevedo, R.B.3
-
59
-
-
0032538791
-
A systematic analysis of the factors that determine the strength of pre-mRNA splicing enhancers
-
COI: 1:CAS:528:DyaK1cXnvF2jtL0%3D, PID: 9822617
-
Graveley BR, Hertel KJ, Maniatis T (1998) A systematic analysis of the factors that determine the strength of pre-mRNA splicing enhancers. EMBO J 17:6747–6756
-
(1998)
EMBO J
, vol.17
, pp. 6747-6756
-
-
Graveley, B.R.1
Hertel, K.J.2
Maniatis, T.3
-
60
-
-
84876561639
-
Inference of natural selection from interspersed genomic elements based on polymorphism and divergence
-
COI: 1:CAS:528:DC%2BC3sXlvFWgs7w%3D, PID: 23386628
-
Gronau I, Arbiza L, Mohammed J, Siepel A (2013) Inference of natural selection from interspersed genomic elements based on polymorphism and divergence. Mol Biol Evol 30:1159–1171
-
(2013)
Mol Biol Evol
, vol.30
, pp. 1159-1171
-
-
Gronau, I.1
Arbiza, L.2
Mohammed, J.3
Siepel, A.4
-
61
-
-
84875992976
-
Analysis of CDS-located miRNA target sites suggests that they can effectively inhibit translation
-
COI: 1:CAS:528:DC%2BC3sXlslGlsrs%3D, PID: 23335364
-
Hausser J, Syed AP, Bilen B, Zavolan M (2013) Analysis of CDS-located miRNA target sites suggests that they can effectively inhibit translation. Genome Res 23:604–615
-
(2013)
Genome Res
, vol.23
, pp. 604-615
-
-
Hausser, J.1
Syed, A.P.2
Bilen, B.3
Zavolan, M.4
-
62
-
-
37349056702
-
Pre-mRNA secondary structures influence exon recognition
-
Hiller M, Zhang Z, Backofen R, Stamm S (2007) Pre-mRNA secondary structures influence exon recognition. PLoS Genet 3:2148–2155
-
(2007)
PLoS Genet
, vol.3
, pp. 2148-2155
-
-
Hiller, M.1
Zhang, Z.2
Backofen, R.3
Stamm, S.4
-
63
-
-
84991112173
-
How are short exons flanked by long introns defined and committed to splicing?
-
COI: 1:CAS:528:DC%2BC28Xht1KlsrfO, PID: 27507607
-
Hollander D, Naftelberg S, Lev-Maor G, Kornblihtt AR, Ast G (2016) How are short exons flanked by long introns defined and committed to splicing? Trends Genet 32:596–606
-
(2016)
Trends Genet
, vol.32
, pp. 596-606
-
-
Hollander, D.1
Naftelberg, S.2
Lev-Maor, G.3
Kornblihtt, A.R.4
Ast, G.5
-
64
-
-
84916640509
-
The RNAissance family: SR proteins as multifaceted regulators of gene expression
-
COI: 1:CAS:528:DC%2BC2cXitFSnsLbO, PID: 25155147
-
Howard JM, Sanford JR (2015) The RNAissance family: SR proteins as multifaceted regulators of gene expression. Wiley Interdiscip Rev RNA 6:93–110
-
(2015)
Wiley Interdiscip Rev RNA
, vol.6
, pp. 93-110
-
-
Howard, J.M.1
Sanford, J.R.2
-
65
-
-
18444362122
-
Biallelic inactivation of BRCA2 in Fanconi anemia
-
COI: 1:CAS:528:DC%2BD38XlslWrs7k%3D, PID: 12065746
-
Howlett NG et al (2002) Biallelic inactivation of BRCA2 in Fanconi anemia. Science 297:606–609
-
(2002)
Science
, vol.297
, pp. 606-609
-
-
Howlett, N.G.1
-
66
-
-
0344211508
-
SR splicing factors serve as adapter proteins for TAP-dependent mRNA export
-
COI: 1:CAS:528:DC%2BD3sXjtVWktLY%3D, PID: 12667464
-
Huang Y, Gattoni R, Stévenin J, Steitz JA (2003) SR splicing factors serve as adapter proteins for TAP-dependent mRNA export. Mol Cell 11:837–843
-
(2003)
Mol Cell
, vol.11
, pp. 837-843
-
-
Huang, Y.1
Gattoni, R.2
Stévenin, J.3
Steitz, J.A.4
-
67
-
-
33746435693
-
Preliminary assessment of the impact of microRNA-mediated regulation on coding sequence evolution in mammals
-
COI: 1:CAS:528:DC%2BD28Xnt1yisrY%3D, PID: 16786435
-
Hurst LD (2006) Preliminary assessment of the impact of microRNA-mediated regulation on coding sequence evolution in mammals. J Mol Evol 63:174–182
-
(2006)
J Mol Evol
, vol.63
, pp. 174-182
-
-
Hurst, L.D.1
-
68
-
-
84878357990
-
Open questions: a logic (or lack thereof) of genome organization
-
PID: 23714162
-
Hurst LD (2013) Open questions: a logic (or lack thereof) of genome organization. BMC Biol 11:58
-
(2013)
BMC Biol
, vol.11
, pp. 58
-
-
Hurst, L.D.1
-
69
-
-
77958082013
-
Overlapping codes within protein-coding sequences
-
COI: 1:CAS:528:DC%2BC3cXhsVGqu73N, PID: 20841429
-
Itzkovitz S, Hodis E, Segal E (2010) Overlapping codes within protein-coding sequences. Genome Res 20:1582–1589
-
(2010)
Genome Res
, vol.20
, pp. 1582-1589
-
-
Itzkovitz, S.1
Hodis, E.2
Segal, E.3
-
70
-
-
84940435596
-
Specificity and nonspecificity in RNA-protein interactions
-
COI: 1:CAS:528:DC%2BC2MXhtlKntrbM, PID: 26285679
-
Jankowsky E, Harris ME (2015) Specificity and nonspecificity in RNA-protein interactions. Nat Rev Mol Cell Biol 16:533–544
-
(2015)
Nat Rev Mol Cell Biol
, vol.16
, pp. 533-544
-
-
Jankowsky, E.1
Harris, M.E.2
-
71
-
-
84877721757
-
SR proteins collaborate with 7SK and promoter-associated nascent RNA to release paused polymerase
-
COI: 1:CAS:528:DC%2BC3sXnsFSmtbo%3D, PID: 23663783
-
Ji X et al (2013) SR proteins collaborate with 7SK and promoter-associated nascent RNA to release paused polymerase. Cell 153:855–868
-
(2013)
Cell
, vol.153
, pp. 855-868
-
-
Ji, X.1
-
72
-
-
84879619070
-
Latent effects of Hsp90 mutants revealed at reduced expression levels
-
COI: 1:CAS:528:DC%2BC3sXhtFGjsL3E, PID: 23825969
-
Jiang L, Mishra P, Hietpas RT, Zeldovich KB, Bolon DN (2013) Latent effects of Hsp90 mutants revealed at reduced expression levels. PLoS Genet 9:e1003600
-
(2013)
PLoS Genet
, vol.9
-
-
Jiang, L.1
Mishra, P.2
Hietpas, R.T.3
Zeldovich, K.B.4
Bolon, D.N.5
-
73
-
-
79956067688
-
New insights into RNA secondary structure in the alternative splicing of pre-mRNAs
-
Jin Y, Yang Y, Zhang P (2014) New insights into RNA secondary structure in the alternative splicing of pre-mRNAs. RNA Biol 8:450–457
-
(2014)
RNA Biol
, vol.8
, pp. 450-457
-
-
Jin, Y.1
Yang, Y.2
Zhang, P.3
-
74
-
-
84968547785
-
The complete local genotype-phenotype landscape for the alternative splicing of a human exon
-
COI: 1:CAS:528:DC%2BC28Xnslamtr0%3D, PID: 27161764
-
Julien P, Minana B, Baeza-Centurion P, Valcarcel J, Lehner B (2016) The complete local genotype-phenotype landscape for the alternative splicing of a human exon. Nature communications 7:11558
-
(2016)
Nature communications
, vol.7
, pp. 11558
-
-
Julien, P.1
Minana, B.2
Baeza-Centurion, P.3
Valcarcel, J.4
Lehner, B.5
-
75
-
-
0019869334
-
The molecular basis of dominance
-
COI: 1:CAS:528:DyaL3MXlvVahurY%3D, PID: 7297851
-
Kacser H, Burns JA (1981) The molecular basis of dominance. Genetics 97:639–666
-
(1981)
Genetics
, vol.97
, pp. 639-666
-
-
Kacser, H.1
Burns, J.A.2
-
76
-
-
37249042614
-
Joint inference of the distribution of fitness effects of deleterious mutations and population demography based on nucleotide polymorphism frequencies
-
COI: 1:CAS:528:DC%2BD1cXhtlCjs78%3D, PID: 18073430
-
Keightley PD, Eyre-Walker A (2007) Joint inference of the distribution of fitness effects of deleterious mutations and population demography based on nucleotide polymorphism frequencies. Genetics 177:2251–2261
-
(2007)
Genetics
, vol.177
, pp. 2251-2261
-
-
Keightley, P.D.1
Eyre-Walker, A.2
-
77
-
-
80051532482
-
Inference of site frequency spectra from high-throughput sequence data: quantification of selection on nonsynonymous and synonymous sites in humans
-
PID: 21596896
-
Keightley PD, Halligan DL (2011) Inference of site frequency spectra from high-throughput sequence data: quantification of selection on nonsynonymous and synonymous sites in humans. Genetics 188:931–940
-
(2011)
Genetics
, vol.188
, pp. 931-940
-
-
Keightley, P.D.1
Halligan, D.L.2
-
78
-
-
79955442386
-
Inference of mutation parameters and selective constraint in mammalian coding sequences by approximate Bayesian computation
-
COI: 1:CAS:528:DC%2BC3MXmsVSgsbs%3D, PID: 21288873
-
Keightley PD, Eory L, Halligan DL, Kirkpatrick M (2011) Inference of mutation parameters and selective constraint in mammalian coding sequences by approximate Bayesian computation. Genetics 187:1153–1161
-
(2011)
Genetics
, vol.187
, pp. 1153-1161
-
-
Keightley, P.D.1
Eory, L.2
Halligan, D.L.3
Kirkpatrick, M.4
-
79
-
-
84899633396
-
Defining functional DNA elements in the human genome
-
COI: 1:CAS:528:DC%2BC2cXmslaqs7g%3D, PID: 24753594
-
Kellis M et al (2014) Defining functional DNA elements in the human genome. Proc Natl Acad Sci USA 111:6131–6138
-
(2014)
Proc Natl Acad Sci USA
, vol.111
, pp. 6131-6138
-
-
Kellis, M.1
-
80
-
-
84983762697
-
Massively parallel interrogation of the effects of gene expression levels on fitness
-
Keren L et al (2016) Massively parallel interrogation of the effects of gene expression levels on fitness. Cell 166(1282–1294):e1218
-
(2016)
Cell
, vol.166
, Issue.1282-1294
-
-
Keren, L.1
-
81
-
-
84911382071
-
Identification of splicing defects caused by mutations in the dysferlin gene
-
COI: 1:CAS:528:DC%2BC2cXitVektb%2FP, PID: 25312915
-
Kergourlay V et al (2014) Identification of splicing defects caused by mutations in the dysferlin gene. Hum Mutat 35:1532–1541
-
(2014)
Hum Mutat
, vol.35
, pp. 1532-1541
-
-
Kergourlay, V.1
-
82
-
-
0022423415
-
Size and position of intervening sequences are critical for the splicing efficiency of pre-mRNA in the yeast Saccharomyces cerevisiae
-
COI: 1:CAS:528:DyaL2MXksV2jtLk%3D, PID: 3892483
-
Klinz F-J, Gallwitz D (1985) Size and position of intervening sequences are critical for the splicing efficiency of pre-mRNA in the yeast Saccharomyces cerevisiae. Nucleic Acids Res 13:3791–3804
-
(1985)
Nucleic Acids Res
, vol.13
, pp. 3791-3804
-
-
Klinz, F.-J.1
Gallwitz, D.2
-
83
-
-
61349098460
-
Differential chromatin marking of introns and expressed exons by H3K36me3
-
COI: 1:CAS:528:DC%2BD1MXht1ehur8%3D, PID: 19182803
-
Kolasinska-Zwierz P, Down T, Latorre I, Liu T, Liu XS, Ahringer J (2009) Differential chromatin marking of introns and expressed exons by H3K36me3. Nat Genet 41:376–381
-
(2009)
Nat Genet
, vol.41
, pp. 376-381
-
-
Kolasinska-Zwierz, P.1
Down, T.2
Latorre, I.3
Liu, T.4
Liu, X.S.5
Ahringer, J.6
-
84
-
-
84876350995
-
A comparison of models to infer the distribution of fitness effects of new mutations
-
PID: 23341416
-
Kousathanas A, Keightley PD (2013) A comparison of models to infer the distribution of fitness effects of new mutations. Genetics 193:1197–1208
-
(2013)
Genetics
, vol.193
, pp. 1197-1208
-
-
Kousathanas, A.1
Keightley, P.D.2
-
85
-
-
77649267695
-
Dynamic changes in the human methylome during differentiation
-
COI: 1:CAS:528:DC%2BC3cXjtlCktbo%3D, PID: 20133333
-
Laurent L et al (2010) Dynamic changes in the human methylome during differentiation. Genome Res 20:320–331
-
(2010)
Genome Res
, vol.20
, pp. 320-331
-
-
Laurent, L.1
-
86
-
-
84878486976
-
Strong purifying selection at synonymous sites in D. melanogaster
-
COI: 1:CAS:528:DC%2BC3sXpsFelu7o%3D, PID: 23737754
-
Lawrie DS, Messer PW, Hershberg R, Petrov DA (2013) Strong purifying selection at synonymous sites in D. melanogaster. PLoS Genet 9:e1003527
-
(2013)
PLoS Genet
, vol.9
-
-
Lawrie, D.S.1
Messer, P.W.2
Hershberg, R.3
Petrov, D.A.4
-
87
-
-
0024522826
-
A novel member of the thyroid/steroid hormone receptor family is encoded by the opposite strand of the rat c-erbAα transcriptional unit
-
COI: 1:CAS:528:DyaK3cXhs1Wn, PID: 2542765
-
Lazar MA, Hodin RA, Darling DS, Chin WW (1989) A novel member of the thyroid/steroid hormone receptor family is encoded by the opposite strand of the rat c-erbAα transcriptional unit. Mol Cell Biol 9:1128–1136
-
(1989)
Mol Cell Biol
, vol.9
, pp. 1128-1136
-
-
Lazar, M.A.1
Hodin, R.A.2
Darling, D.S.3
Chin, W.W.4
-
88
-
-
84930691710
-
Mechanisms and regulation of alternative pre-mRNA splicing
-
COI: 1:CAS:528:DC%2BC2MXhsVyrt7zN, PID: 25784052
-
Lee Y, Rio DC (2015) Mechanisms and regulation of alternative pre-mRNA splicing. Annu Rev Biochem 84:291–323
-
(2015)
Annu Rev Biochem
, vol.84
, pp. 291-323
-
-
Lee, Y.1
Rio, D.C.2
-
89
-
-
0028797783
-
Identification and characterization of a spinal muscular atrophy-determining gene
-
COI: 1:CAS:528:DyaK2MXjtFegu74%3D, PID: 7813012
-
Lefebvre S et al (1995) Identification and characterization of a spinal muscular atrophy-determining gene. Cell 80:155–165
-
(1995)
Cell
, vol.80
, pp. 155-165
-
-
Lefebvre, S.1
-
90
-
-
84928761297
-
The alternative role of DNA methylation in splicing regulation
-
COI: 1:CAS:528:DC%2BC2MXltFWiu7o%3D, PID: 25837375
-
Lev Maor G, Yearim A, Ast G (2015) The alternative role of DNA methylation in splicing regulation. Trends Genet 31:274–280
-
(2015)
Trends Genet
, vol.31
, pp. 274-280
-
-
Lev Maor, G.1
Yearim, A.2
Ast, G.3
-
91
-
-
11844278458
-
Conserved seed pairing, often flanked by adenosines, indicates that thousands of human genes are microRNA Targets
-
COI: 1:CAS:528:DC%2BD2MXot1ChsA%3D%3D, PID: 15652477
-
Lewis BP, Burge CB, Bartel DP (2005) Conserved seed pairing, often flanked by adenosines, indicates that thousands of human genes are microRNA Targets. Cell 120:15–20
-
(2005)
Cell
, vol.120
, pp. 15-20
-
-
Lewis, B.P.1
Burge, C.B.2
Bartel, D.P.3
-
92
-
-
23744455164
-
Inactivation of the SR protein splicing factor ASF/SF2 results in genomic instability
-
COI: 1:CAS:528:DC%2BD2MXovV2qsrk%3D, PID: 16096057
-
Li X, Manley JL (2005) Inactivation of the SR protein splicing factor ASF/SF2 results in genomic instability. Cell 122:365–378
-
(2005)
Cell
, vol.122
, pp. 365-378
-
-
Li, X.1
Manley, J.L.2
-
93
-
-
77952687104
-
Predicting in vivo binding sites of RNA-binding proteins using mRNA secondary structure
-
COI: 1:CAS:528:DC%2BC3cXntV2iu78%3D, PID: 20418358
-
Li X, Quon G, Lipshitz HD, Morris Q (2010) Predicting in vivo binding sites of RNA-binding proteins using mRNA secondary structure. RNA 16:1096–1107
-
(2010)
RNA
, vol.16
, pp. 1096-1107
-
-
Li, X.1
Quon, G.2
Lipshitz, H.D.3
Morris, Q.4
-
94
-
-
84890294599
-
Finding the target sites of RNA-binding proteins
-
COI: 1:CAS:528:DC%2BC3sXhvFKqu7nE, PID: 24217996
-
Li X, Kazan H, Lipshitz HD, Morris QD (2014) Finding the target sites of RNA-binding proteins. Wiley Interdiscip Rev RNA 5:111–130
-
(2014)
Wiley Interdiscip Rev RNA
, vol.5
, pp. 111-130
-
-
Li, X.1
Kazan, H.2
Lipshitz, H.D.3
Morris, Q.D.4
-
95
-
-
79960594889
-
Using positional distribution to identify splicing elements and predict pre-mRNA processing defects in human genes
-
COI: 1:CAS:528:DC%2BC3MXptV2htb4%3D, PID: 21685335
-
Lim KH, Ferraris L, Filloux ME, Raphael BJ, Fairbrother WG (2011) Using positional distribution to identify splicing elements and predict pre-mRNA processing defects in human genes. Proc Natl Acad Sci USA 108:11093–11098
-
(2011)
Proc Natl Acad Sci USA
, vol.108
, pp. 11093-11098
-
-
Lim, K.H.1
Ferraris, L.2
Filloux, M.E.3
Raphael, B.J.4
Fairbrother, W.G.5
-
96
-
-
49449116959
-
The splicing factor SC35 has an active role in transcriptional elongation
-
COI: 1:CAS:528:DC%2BD1cXptlOisrg%3D, PID: 18641664
-
Lin S, Coutinho-Mansfield G, Wang D, Pandit S, Fu X-D (2008) The splicing factor SC35 has an active role in transcriptional elongation. Nat Struct Mol Biol 15:819–826
-
(2008)
Nat Struct Mol Biol
, vol.15
, pp. 819-826
-
-
Lin, S.1
Coutinho-Mansfield, G.2
Wang, D.3
Pandit, S.4
Fu, X.-D.5
-
97
-
-
80055024376
-
Locating protein-coding sequences under selection for additional, overlapping functions in 29 mammalian genomes
-
COI: 1:CAS:528:DC%2BC3MXhsVKjsLzE, PID: 21994248
-
Lin MF, Kheradpour P, Washietl S, Parker BJ, Pedersen JS, Kellis M (2011) Locating protein-coding sequences under selection for additional, overlapping functions in 29 mammalian genomes. Genome Res 21:1916–1928
-
(2011)
Genome Res
, vol.21
, pp. 1916-1928
-
-
Lin, M.F.1
Kheradpour, P.2
Washietl, S.3
Parker, B.J.4
Pedersen, J.S.5
Kellis, M.6
-
98
-
-
17344365600
-
Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy
-
COI: 1:CAS:528:DyaK1cXmtVOmt7s%3D, PID: 9731526
-
Liu J et al (1998) Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy. Nat Genet 20:31–36
-
(1998)
Nat Genet
, vol.20
, pp. 31-36
-
-
Liu, J.1
-
99
-
-
78049248013
-
Regulation of splicing enhancer activities by RNA secondary structures
-
COI: 1:CAS:528:DC%2BC3cXhtlKrsrnI, PID: 20888818
-
Liu W, Zhou Y, Hu Z, Sun T, Denise A, Fu XD, Zhang Y (2010) Regulation of splicing enhancer activities by RNA secondary structures. FEBS Lett 584:4401–4407
-
(2010)
FEBS Lett
, vol.584
, pp. 4401-4407
-
-
Liu, W.1
Zhou, Y.2
Hu, Z.3
Sun, T.4
Denise, A.5
Fu, X.D.6
Zhang, Y.7
-
100
-
-
84965093239
-
Functional conservation of both CDS- and 3′-UTR-located microRNA binding sites between species
-
COI: 1:CAS:528:DC%2BC28Xht1KqtrvM, PID: 25414126
-
Liu G, Zhang R, Xu J, Wu CI, Lu X (2015) Functional conservation of both CDS- and 3′-UTR-located microRNA binding sites between species. Mol Biol Evol 32:623–628
-
(2015)
Mol Biol Evol
, vol.32
, pp. 623-628
-
-
Liu, G.1
Zhang, R.2
Xu, J.3
Wu, C.I.4
Lu, X.5
-
101
-
-
33644764039
-
Estimating selection on nonsynonymous mutations
-
COI: 1:CAS:528:DC%2BD28XivFCkurs%3D, PID: 16299397
-
Loewe L, Charlesworth B, Bartolome C, Noel V (2006) Estimating selection on nonsynonymous mutations. Genetics 172:1079–1092
-
(2006)
Genetics
, vol.172
, pp. 1079-1092
-
-
Loewe, L.1
Charlesworth, B.2
Bartolome, C.3
Noel, V.4
-
102
-
-
15544379277
-
Are splicing mutations the most frequent cause of hereditary disease?
-
COI: 1:CAS:528:DC%2BD2MXisFGqurY%3D, PID: 15792793
-
Lopez-Bigas N, Audit B, Ouzounis C, Parra G, Guigo R (2005) Are splicing mutations the most frequent cause of hereditary disease? FEBS Lett 579:1900–1903
-
(2005)
FEBS Lett
, vol.579
, pp. 1900-1903
-
-
Lopez-Bigas, N.1
Audit, B.2
Ouzounis, C.3
Parra, G.4
Guigo, R.5
-
103
-
-
84901675912
-
Synonymous constraint elements show a tendency to encode intrinsically disordered protein segments
-
PID: 24809503
-
Macossay-Castillo M, Kosol S, Tompa P, Pancsa R (2014) Synonymous constraint elements show a tendency to encode intrinsically disordered protein segments. PLoS Comput Biol 10:e1003607
-
(2014)
PLoS Comput Biol
, vol.10
-
-
Macossay-Castillo, M.1
Kosol, S.2
Tompa, P.3
Pancsa, R.4
-
104
-
-
0036911605
-
Distribution and characterization of regulatory elements in the human genome
-
COI: 1:CAS:528:DC%2BD38XpsVOqtbo%3D, PID: 12466286
-
Majewski J, Ott J (2002) Distribution and characterization of regulatory elements in the human genome. Genome Res 12:1827–1836
-
(2002)
Genome Res
, vol.12
, pp. 1827-1836
-
-
Majewski, J.1
Ott, J.2
-
105
-
-
12444259766
-
Overlapping genes in vertebrate genomes
-
COI: 1:CAS:528:DC%2BD2MXos12qtQ%3D%3D, PID: 15680581
-
Makalowska I, Lin CF, Makalowski W (2005) Overlapping genes in vertebrate genomes. Comput Biol Chem 29:1–12
-
(2005)
Comput Biol Chem
, vol.29
, pp. 1-12
-
-
Makalowska, I.1
Lin, C.F.2
Makalowski, W.3
-
106
-
-
84899845940
-
The translational landscape of the splicing factor SRSF1 and its role in mitosis
-
Maslon MM, Heras SR, Bellora N, Eyras E, Caceres JF (2014) The translational landscape of the splicing factor SRSF1 and its role in mitosis. eLife 3:e02028
-
(2014)
eLife
, vol.3
-
-
Maslon, M.M.1
Heras, S.R.2
Bellora, N.3
Eyras, E.4
Caceres, J.F.5
-
107
-
-
84899637780
-
The extent of functionality in the human genome
-
Mattick JS, Dinger ME (2013) The extent of functionality in the human genome. HUGO J 7:2
-
(2013)
HUGO J
, vol.7
, pp. 2
-
-
Mattick, J.S.1
Dinger, M.E.2
-
108
-
-
79960918747
-
RNA structure and the mechanisms of alternative splicing
-
COI: 1:CAS:528:DC%2BC3MXps1ejsbc%3D, PID: 21530232
-
McManus CJ, Graveley BR (2011) RNA structure and the mechanisms of alternative splicing. Curr Opin Genet Dev 21:373–379
-
(2011)
Curr Opin Genet Dev
, vol.21
, pp. 373-379
-
-
McManus, C.J.1
Graveley, B.R.2
-
109
-
-
28544440092
-
Statistical evidence for conserved, local secondary structure in the coding regions of eukaryotic mRNAs and pre-mRNAs
-
COI: 1:CAS:528:DC%2BD2MXht1entLjL, PID: 16275783
-
Meyer IM, Miklos I (2005) Statistical evidence for conserved, local secondary structure in the coding regions of eukaryotic mRNAs and pre-mRNAs. Nucleic Acids Res 33:6338–6348
-
(2005)
Nucleic Acids Res
, vol.33
, pp. 6338-6348
-
-
Meyer, I.M.1
Miklos, I.2
-
110
-
-
84868324214
-
Observation of dually decoded regions of the human genome using ribosome profiling data
-
COI: 1:CAS:528:DC%2BC38Xhs1ektr7J, PID: 22593554
-
Michel AM, Choudhury KR, Firth AE, Ingolia NT, Atkins JF, Baranov PV (2012) Observation of dually decoded regions of the human genome using ribosome profiling data. Genome Res 22:2219–2229
-
(2012)
Genome Res
, vol.22
, pp. 2219-2229
-
-
Michel, A.M.1
Choudhury, K.R.2
Firth, A.E.3
Ingolia, N.T.4
Atkins, J.F.5
Baranov, P.V.6
-
111
-
-
42949109848
-
The splicing factor SF2/ASF regulates translation initiation by enhancing phosphorylation of 4E-BP1
-
COI: 1:CAS:528:DC%2BD1cXlsFentb0%3D, PID: 18439897
-
Michlewski G, Sanford JR, Caceres JF (2008) The splicing factor SF2/ASF regulates translation initiation by enhancing phosphorylation of 4E-BP1. Mol Cell 30:179–189
-
(2008)
Mol Cell
, vol.30
, pp. 179-189
-
-
Michlewski, G.1
Sanford, J.R.2
Caceres, J.F.3
-
112
-
-
0001410504
-
In defense of proper functions
-
Millikan RG (1989) In defense of proper functions. Philos Sci 56:288–302
-
(1989)
Philos Sci
, vol.56
, pp. 288-302
-
-
Millikan, R.G.1
-
113
-
-
0024511936
-
Two erbA homologs encoding proteins with different T 3 binding capacities are transcribed from opposite DNA strands of the same genetic locus
-
COI: 1:CAS:528:DyaK3cXkvFKktg%3D%3D, PID: 2539258
-
Miyajima N, Horiuchi R, Shibuya Y, S-i Fukushige, K-i Matsubara, Toyoshima K, Yamamoto T (1989) Two erbA homologs encoding proteins with different T 3 binding capacities are transcribed from opposite DNA strands of the same genetic locus. Cell 57:31–39
-
(1989)
Cell
, vol.57
, pp. 31-39
-
-
Miyajima, N.1
Horiuchi, R.2
Shibuya, Y.3
S-i, F.4
K-i, M.5
Toyoshima, K.6
Yamamoto, T.7
-
114
-
-
0036171787
-
An exon splice enhancer mutation causes autosomal dominant GH deficiency
-
COI: 1:CAS:528:DC%2BD38XhsVSisb4%3D
-
Moseley CT, Mullis PE, Prince MA, Phillips JA III (2002) An exon splice enhancer mutation causes autosomal dominant GH deficiency. J Clin Endocrionol Metab 87:847–852
-
(2002)
J Clin Endocrionol Metab
, vol.87
, pp. 847-852
-
-
Moseley, C.T.1
Mullis, P.E.2
Prince, M.A.3
Phillips, J.A.4
-
115
-
-
84946962573
-
The silent sway of splicing by synonymous substitutions
-
COI: 1:CAS:528:DC%2BC2MXhvVeqt7vO, PID: 26424794
-
Mueller WF, Larsen LS, Garibaldi A, Hatfield GW, Hertel KJ (2015) The silent sway of splicing by synonymous substitutions. J Biol Chem 290:27700–27711
-
(2015)
J Biol Chem
, vol.290
, pp. 27700-27711
-
-
Mueller, W.F.1
Larsen, L.S.2
Garibaldi, A.3
Hatfield, G.W.4
Hertel, K.J.5
-
116
-
-
0001261899
-
Functions as selected effects: the conceptual analyst’s defense
-
Neander K (1991) Functions as selected effects: the conceptual analyst’s defense. Philos Sci 58:168–184
-
(1991)
Philos Sci
, vol.58
, pp. 168-184
-
-
Neander, K.1
-
117
-
-
0042354654
-
Estimating the distribution of selection coefficients from phylogenetic data with applications to mitochondrial and viral DNA
-
COI: 1:CAS:528:DC%2BD3sXms1Wks7o%3D, PID: 12777508
-
Nielsen R, Yang Z (2003) Estimating the distribution of selection coefficients from phylogenetic data with applications to mitochondrial and viral DNA. Mol Biol Evol 20:1231–1239
-
(2003)
Mol Biol Evol
, vol.20
, pp. 1231-1239
-
-
Nielsen, R.1
Yang, Z.2
-
118
-
-
84872861423
-
Can ENCODE tell us how much junk DNA we carry in our genome?
-
COI: 1:CAS:528:DC%2BC3sXovFCrsQ%3D%3D, PID: 23268340
-
Niu DK, Jiang L (2013) Can ENCODE tell us how much junk DNA we carry in our genome? Biochem Biophys Res Commun 430:1340–1343
-
(2013)
Biochem Biophys Res Commun
, vol.430
, pp. 1340-1343
-
-
Niu, D.K.1
Jiang, L.2
-
119
-
-
84928386012
-
Mammalian NET-Seq reveals genome-wide nascent transcription coupled to RNA processing
-
COI: 1:CAS:528:DC%2BC2MXnt1eqsrs%3D, PID: 25910207
-
Nojima T et al (2015) Mammalian NET-Seq reveals genome-wide nascent transcription coupled to RNA processing. Cell 161:526–540
-
(2015)
Cell
, vol.161
, pp. 526-540
-
-
Nojima, T.1
-
120
-
-
0037669010
-
Low conservation of alternative splicing patterns in the human and mouse genomes
-
COI: 1:CAS:528:DC%2BD3sXkt1WrurY%3D, PID: 12761046
-
Nurtdinov RN (2003) Low conservation of alternative splicing patterns in the human and mouse genomes. Hum Mol Genet 12:1313–1320
-
(2003)
Hum Mol Genet
, vol.12
, pp. 1313-1320
-
-
Nurtdinov, R.N.1
-
121
-
-
75649108241
-
Entropic contributions to the splicing process
-
PID: 19934491
-
Osella M, Caselle M (2009) Entropic contributions to the splicing process. Phys Biol 6:046018
-
(2009)
Phys Biol
, vol.6
, pp. 046018
-
-
Osella, M.1
Caselle, M.2
-
122
-
-
0038712558
-
Missense, nonsense, and neutral mutations define juxtaposed regulatory elements of splicing in cystic fibrosis transmembrane regulator exon 9
-
COI: 1:CAS:528:DC%2BD3sXltlKqsL8%3D, PID: 12732620
-
Pagani F, Buratti E, Stuani C, Baralle FE (2003) Missense, nonsense, and neutral mutations define juxtaposed regulatory elements of splicing in cystic fibrosis transmembrane regulator exon 9. J Biol Chem 278:26580–26588
-
(2003)
J Biol Chem
, vol.278
, pp. 26580-26588
-
-
Pagani, F.1
Buratti, E.2
Stuani, C.3
Baralle, F.E.4
-
123
-
-
18144386947
-
Synonymous mutations in CFTR exon 12 affect splicing and are not neutral in evolution
-
COI: 1:CAS:528:DC%2BD2MXktlygtrg%3D, PID: 15840711
-
Pagani F, Raponi M, Baralle FE (2005) Synonymous mutations in CFTR exon 12 affect splicing and are not neutral in evolution. Proc Natl Acad Sci USA 102:6368–6372
-
(2005)
Proc Natl Acad Sci USA
, vol.102
, pp. 6368-6372
-
-
Pagani, F.1
Raponi, M.2
Baralle, F.E.3
-
124
-
-
10944245056
-
Alternative splicing of conserved exons is frequently species-specific in human and mouse
-
COI: 1:CAS:528:DC%2BD2MXmslKhtg%3D%3D, PID: 15661351
-
Pan Q, Bakowski MA, Morris Q, Zhang W, Frey BJ, Hughes TR, Blencowe BJ (2005) Alternative splicing of conserved exons is frequently species-specific in human and mouse. Trends Genet 21:73–77
-
(2005)
Trends Genet
, vol.21
, pp. 73-77
-
-
Pan, Q.1
Bakowski, M.A.2
Morris, Q.3
Zhang, W.4
Frey, B.J.5
Hughes, T.R.6
Blencowe, B.J.7
-
125
-
-
84994545646
-
Coding regions of intrinsic disorder accommodate parallel functions
-
COI: 1:CAS:528:DC%2BC28XhsVels7fJ, PID: 27647212
-
Pancsa R, Tompa P (2016) Coding regions of intrinsic disorder accommodate parallel functions. Trends Biochem Sci 41:898–906
-
(2016)
Trends Biochem Sci
, vol.41
, pp. 898-906
-
-
Pancsa, R.1
Tompa, P.2
-
126
-
-
84876839218
-
Genome-wide analysis reveals SR protein cooperation and competition in regulated splicing
-
COI: 1:CAS:528:DC%2BC3sXlsFalurk%3D, PID: 23562324
-
Pandit S et al (2013) Genome-wide analysis reveals SR protein cooperation and competition in regulated splicing. Mol Cell 50:223–235
-
(2013)
Mol Cell
, vol.50
, pp. 223-235
-
-
Pandit, S.1
-
127
-
-
34547709593
-
Exonic splicing regulatory elements skew synonymous codon usage near intron-exon boundaries in mammals
-
COI: 1:CAS:528:DC%2BD2sXpsVGrsLw%3D, PID: 17525472
-
Parmley JL, Hurst LD (2007) Exonic splicing regulatory elements skew synonymous codon usage near intron-exon boundaries in mammals. Mol Biol Evol 24:1600–1603
-
(2007)
Mol Biol Evol
, vol.24
, pp. 1600-1603
-
-
Parmley, J.L.1
Hurst, L.D.2
-
128
-
-
30744469841
-
Evidence for purifying selection against synonymous mutations in mammalian exonic splicing enhancers
-
COI: 1:CAS:528:DC%2BD28XntValtw%3D%3D, PID: 16221894
-
Parmley JL, Chamary JV, Hurst LD (2006) Evidence for purifying selection against synonymous mutations in mammalian exonic splicing enhancers. Mol Biol Evol 23:301–309
-
(2006)
Mol Biol Evol
, vol.23
, pp. 301-309
-
-
Parmley, J.L.1
Chamary, J.V.2
Hurst, L.D.3
-
129
-
-
33846990531
-
Splicing and the evolution of proteins in mammals
-
PID: 17298171
-
Parmley JL, Urrutia AO, Potrzebowski L, Kaessmann H, Hurst LD (2007) Splicing and the evolution of proteins in mammals. PLoS Biol 5:e14
-
(2007)
PLoS Biol
, vol.5
-
-
Parmley, J.L.1
Urrutia, A.O.2
Potrzebowski, L.3
Kaessmann, H.4
Hurst, L.D.5
-
131
-
-
0032492855
-
Salmonella typhi uses CFTR to enter intestinal epithelial cells
-
COI: 1:CAS:528:DyaK1cXjt1anu7s%3D, PID: 9590693
-
Pier GB et al (1998) Salmonella typhi uses CFTR to enter intestinal epithelial cells. Nature 393:79–82
-
(1998)
Nature
, vol.393
, pp. 79-82
-
-
Pier, G.B.1
-
132
-
-
0041836283
-
Estimating the distribution of fitness effects from DNA sequence data: implications for the molecular clock
-
COI: 1:CAS:528:DC%2BD3sXntFygu7k%3D, PID: 12925735
-
Piganeau G, Eyre-Walker A (2003) Estimating the distribution of fitness effects from DNA sequence data: implications for the molecular clock. Proc Natl Acad Sci USA 100:10335–10340
-
(2003)
Proc Natl Acad Sci USA
, vol.100
, pp. 10335-10340
-
-
Piganeau, G.1
Eyre-Walker, A.2
-
133
-
-
74949092081
-
Detection of nonneutral substitution rates on mammalian phylogenies
-
COI: 1:CAS:528:DC%2BC3cXls1OlsQ%3D%3D, PID: 19858363
-
Pollard KS, Hubisz MJ, Rosenbloom KR, Siepel A (2010) Detection of nonneutral substitution rates on mammalian phylogenies. Genome Res 20:110–121
-
(2010)
Genome Res
, vol.20
, pp. 110-121
-
-
Pollard, K.S.1
Hubisz, M.J.2
Rosenbloom, K.R.3
Siepel, A.4
-
134
-
-
80555142991
-
What fraction of the human genome is functional?
-
COI: 1:CAS:528:DC%2BC3MXhsVKjs7fL, PID: 21875934
-
Ponting CP, Hardison RC (2011) What fraction of the human genome is functional? Genome Res 21:1769–1776
-
(2011)
Genome Res
, vol.21
, pp. 1769-1776
-
-
Ponting, C.P.1
Hardison, R.C.2
-
135
-
-
6044239562
-
Over-representation of exonic splicing enhancers in human intronless genes suggests multiple functions in mRNA processing
-
COI: 1:CAS:528:DC%2BD2cXmvFeksr8%3D, PID: 15325254
-
Pozzoli U et al (2004) Over-representation of exonic splicing enhancers in human intronless genes suggests multiple functions in mRNA processing. Biochem Biophys Res Commun 322:470–476
-
(2004)
Biochem Biophys Res Commun
, vol.322
, pp. 470-476
-
-
Pozzoli, U.1
-
136
-
-
84954380474
-
Are synonymous sites in primates and rodents functionally constrained?
-
COI: 1:CAS:528:DC%2BC2MXhvVehtr7L, PID: 26563252
-
Price N, Graur D (2016) Are synonymous sites in primates and rodents functionally constrained? J Mol Evol 82:51–64
-
(2016)
J Mol Evol
, vol.82
, pp. 51-64
-
-
Price, N.1
Graur, D.2
-
137
-
-
84912075546
-
Approximation to the distribution of fitness effects across functional categories in human segregating polymorphisms
-
PID: 25375159
-
Racimo F, Schraiber JG (2014) Approximation to the distribution of fitness effects across functional categories in human segregating polymorphisms. PLoS Genet 10:e1004697
-
(2014)
PLoS Genet
, vol.10
-
-
Racimo, F.1
Schraiber, J.G.2
-
138
-
-
20244369597
-
A unique exonic splice enhancer mutation in a family with X-linked mental retardation and epilepsy points to a novel role of the renin receptor
-
COI: 1:CAS:528:DC%2BD2MXjtlensrw%3D, PID: 15746149
-
Ramser J et al (2005) A unique exonic splice enhancer mutation in a family with X-linked mental retardation and epilepsy points to a novel role of the renin receptor. Hum Mol Genet 14:1019–1027
-
(2005)
Hum Mol Genet
, vol.14
, pp. 1019-1027
-
-
Ramser, J.1
-
139
-
-
0031037337
-
The molecular basis of partial penetrance of splicing mutations in cystic fibrosis
-
COI: 1:CAS:528:DyaK2sXlvFKksQ%3D%3D, PID: 8981951
-
Rave-Harel N et al (1997) The molecular basis of partial penetrance of splicing mutations in cystic fibrosis. Am J Hum Genet 60:87
-
(1997)
Am J Hum Genet
, vol.60
, pp. 87
-
-
Rave-Harel, N.1
-
140
-
-
84964597654
-
Coupling of RNA polymerase II transcription elongation with pre-mRNA splicing
-
COI: 1:CAS:528:DC%2BC28XmslSgsLY%3D, PID: 27107644
-
Saldi T, Cortazar MA, Sheridan RM, Bentley DL (2016) Coupling of RNA polymerase II transcription elongation with pre-mRNA splicing. J Mol Biol 428:2623–2635
-
(2016)
J Mol Biol
, vol.428
, pp. 2623-2635
-
-
Saldi, T.1
Cortazar, M.A.2
Sheridan, R.M.3
Bentley, D.L.4
-
141
-
-
1842632326
-
A novel role for shuttling SR proteins in mRNA translation
-
COI: 1:CAS:528:DC%2BD2cXjsVGksb0%3D, PID: 15082528
-
Sanford JR, Gray NK, Beckmann K, Cáceres JF (2004) A novel role for shuttling SR proteins in mRNA translation. Genes Dev 18:755–768
-
(2004)
Genes Dev
, vol.18
, pp. 755-768
-
-
Sanford, J.R.1
Gray, N.K.2
Beckmann, K.3
Cáceres, J.F.4
-
142
-
-
42549092747
-
Overlapping genes in the human and mouse genomes
-
PID: 18410680
-
Sanna CR, Li WH, Zhang L (2008) Overlapping genes in the human and mouse genomes. BMC Genomics 9:169
-
(2008)
BMC Genomics
, vol.9
, pp. 169
-
-
Sanna, C.R.1
Li, W.H.2
Zhang, L.3
-
143
-
-
64749099643
-
SR protein family members display diverse activities in the formation of nascent and mature mRNPs in vivo
-
COI: 1:CAS:528:DC%2BD1MXlvVCltL8%3D, PID: 19394295
-
Sapra AK et al (2009) SR protein family members display diverse activities in the formation of nascent and mature mRNPs in vivo. Mol Cell 34:179–190
-
(2009)
Mol Cell
, vol.34
, pp. 179-190
-
-
Sapra, A.K.1
-
144
-
-
84973311523
-
Purifying selection on exonic splice enhancers in intronless genes
-
COI: 1:CAS:528:DC%2BC28XhslaqsbrN, PID: 26802218
-
Savisaar R, Hurst LD (2016) Purifying selection on exonic splice enhancers in intronless genes. Mol Biol Evol 33:1396–1418
-
(2016)
Mol Biol Evol
, vol.33
, pp. 1396-1418
-
-
Savisaar, R.1
Hurst, L.D.2
-
145
-
-
85019136599
-
Both maintenance and avoidance of RNA-binding protein interactions constrain coding sequence evolution
-
PID: 28138077
-
Savisaar R, Hurst LD (2017) Both maintenance and avoidance of RNA-binding protein interactions constrain coding sequence evolution. Mol Biol Evol. doi:10.1093/molbev/msx061
-
(2017)
Mol Biol Evol
-
-
Savisaar, R.1
Hurst, L.D.2
-
146
-
-
0347380978
-
Bayesian analysis suggests that most amino acid replacements in Drosophila are driven by positive selection
-
COI: 1:CAS:528:DC%2BD2cXjsVeitw%3D%3D, PID: 15008412
-
Sawyer SA, Kulathinal RJ, Bustamante CD, Hartl DL (2003) Bayesian analysis suggests that most amino acid replacements in Drosophila are driven by positive selection. J Mol Evol 57:S154–S164
-
(2003)
J Mol Evol
, vol.57
, pp. S154-S164
-
-
Sawyer, S.A.1
Kulathinal, R.J.2
Bustamante, C.D.3
Hartl, D.L.4
-
147
-
-
83455176994
-
A method for inferring the rate of occurrence and fitness effects of advantageous mutations
-
COI: 1:CAS:528:DC%2BC38XltlGit7s%3D, PID: 21954160
-
Schneider A, Charlesworth B, Eyre-Walker A, Keightley PD (2011) A method for inferring the rate of occurrence and fitness effects of advantageous mutations. Genetics 189:1427–1437
-
(2011)
Genetics
, vol.189
, pp. 1427-1437
-
-
Schneider, A.1
Charlesworth, B.2
Eyre-Walker, A.3
Keightley, P.D.4
-
148
-
-
84964315393
-
Purifying selection on splice-related motifs, not expression level nor RNA folding, explains nearly all constraint on human lincRNAs
-
PID: 25158797
-
Schüler A, Ghanbarian AT, Hurst LD (2014) Purifying selection on splice-related motifs, not expression level nor RNA folding, explains nearly all constraint on human lincRNAs. Mol Biol Evol 31:3164–3183
-
(2014)
Mol Biol Evol
, vol.31
, pp. 3164-3183
-
-
Schüler, A.1
Ghanbarian, A.T.2
Hurst, L.D.3
-
149
-
-
84877818178
-
Nonsense-mediated mRNA decay—mechanisms of substrate mRNA recognition and degradation in mammalian cells
-
COI: 1:CAS:528:DC%2BC3sXktVOrs7o%3D, PID: 23435113
-
Schweingruber C, Rufener SC, Zund D, Yamashita A, Muhlemann O (2013) Nonsense-mediated mRNA decay—mechanisms of substrate mRNA recognition and degradation in mammalian cells. Biochem Biophys Acta 1829:612–623
-
(2013)
Biochem Biophys Acta
, vol.1829
, pp. 612-623
-
-
Schweingruber, C.1
Rufener, S.C.2
Zund, D.3
Yamashita, A.4
Muhlemann, O.5
-
150
-
-
84876348105
-
Sounds of silence: synonymous nucleotides as a key to biological regulation and complexity
-
COI: 1:CAS:528:DC%2BC3sXjtVahs78%3D, PID: 23293005
-
Shabalina SA, Spiridonov NA, Kashina A (2013) Sounds of silence: synonymous nucleotides as a key to biological regulation and complexity. Nucleic Acids Res 41:2073–2094
-
(2013)
Nucleic Acids Res
, vol.41
, pp. 2073-2094
-
-
Shabalina, S.A.1
Spiridonov, N.A.2
Kashina, A.3
-
151
-
-
47949120992
-
Conserved RNA secondary structures promote alternative splicing
-
COI: 1:CAS:528:DC%2BD1cXpsVyisbg%3D, PID: 18579871
-
Shepard PJ, Hertel KJ (2008) Conserved RNA secondary structures promote alternative splicing. RNA 14:1463–1469
-
(2008)
RNA
, vol.14
, pp. 1463-1469
-
-
Shepard, P.J.1
Hertel, K.J.2
-
152
-
-
23744458086
-
Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes
-
COI: 1:CAS:528:DC%2BD2MXotFaht7o%3D, PID: 16024819
-
Siepel A et al (2005) Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes. Genome Res 15:1034–1050
-
(2005)
Genome Res
, vol.15
, pp. 1034-1050
-
-
Siepel, A.1
-
153
-
-
0842289003
-
An extended inhibitory context causes skipping of exon 7 of SMN2 in spinal muscular atrophy
-
COI: 1:CAS:528:DC%2BD2cXps1Ogug%3D%3D, PID: 14766219
-
Singh NN, Androphy EJ, Singh RN (2004) An extended inhibitory context causes skipping of exon 7 of SMN2 in spinal muscular atrophy. Biochem Biophys Res Commun 315:381–388
-
(2004)
Biochem Biophys Res Commun
, vol.315
, pp. 381-388
-
-
Singh, N.N.1
Androphy, E.J.2
Singh, R.N.3
-
154
-
-
0026800854
-
Omission of exon 12 in cystic fibrosis transmembrane conductance regulator (CFTR) gene transcripts
-
COI: 1:CAS:528:DyaK3sXpvFKqsA%3D%3D, PID: 1380942
-
Slomski R, Schloesser M, Berg L-P, Wagner M, Kakkar VV, Cooper DN, Reiss J (1992) Omission of exon 12 in cystic fibrosis transmembrane conductance regulator (CFTR) gene transcripts. Hum Genet 89:615–619
-
(1992)
Hum Genet
, vol.89
, pp. 615-619
-
-
Slomski, R.1
Schloesser, M.2
Berg, L.-P.3
Wagner, M.4
Kakkar, V.V.5
Cooper, D.N.6
Reiss, J.7
-
155
-
-
84931275197
-
Splice junctions are constrained by protein disorder
-
COI: 1:CAS:528:DC%2BC2MXhsFegsL7O, PID: 25934802
-
Smithers B, Oates ME, Gough J (2015) Splice junctions are constrained by protein disorder. Nucleic Acids Res 43:4814–4822
-
(2015)
Nucleic Acids Res
, vol.43
, pp. 4814-4822
-
-
Smithers, B.1
Oates, M.E.2
Gough, J.3
-
156
-
-
84958729894
-
exonic splicing mutations are more prevalent than currently estimated and can be predicted by using in silico tools
-
PID: 26761715
-
Soukarieh O et al (2016) exonic splicing mutations are more prevalent than currently estimated and can be predicted by using in silico tools. PLoS Genet 12:e1005756
-
(2016)
PLoS Genet
, vol.12
-
-
Soukarieh, O.1
-
157
-
-
0033364822
-
Human molybdopterin synthase gene: identification of a bicistronic transcript with overlapping reading frames
-
COI: 1:CAS:528:DyaK1MXitFChtrc%3D, PID: 10053003
-
Stallmeyer B, Drugeon G, Reiss J, Haenni AL, Mendel RR (1999) Human molybdopterin synthase gene: identification of a bicistronic transcript with overlapping reading frames. Am J Hum Genet 64:698–705
-
(1999)
Am J Hum Genet
, vol.64
, pp. 698-705
-
-
Stallmeyer, B.1
Drugeon, G.2
Reiss, J.3
Haenni, A.L.4
Mendel, R.R.5
-
158
-
-
84865859048
-
What does our genome encode?
-
COI: 1:CAS:528:DC%2BC38XhtlentL3K, PID: 22955972
-
Stamatoyannopoulos JA (2012) What does our genome encode? Genome Res 22:1602–1611
-
(2012)
Genome Res
, vol.22
, pp. 1602-1611
-
-
Stamatoyannopoulos, J.A.1
-
159
-
-
84890072854
-
Exonic transcription factor binding directs codon choice and affects protein evolution
-
COI: 1:CAS:528:DC%2BC3sXhvV2lsLvL, PID: 24337295
-
Stergachis AB et al (2013) Exonic transcription factor binding directs codon choice and affects protein evolution. Science 342:1367–1372
-
(2013)
Science
, vol.342
, pp. 1367-1372
-
-
Stergachis, A.B.1
-
160
-
-
0030473462
-
Architectural limits on split genes
-
COI: 1:CAS:528:DyaK2sXmvVam, PID: 8986767
-
Sterner DA, Carlo T, Berget SM (1996) Architectural limits on split genes. Proc Natl Acad Sci USA 93:15081–15085
-
(1996)
Proc Natl Acad Sci USA
, vol.93
, pp. 15081-15085
-
-
Sterner, D.A.1
Carlo, T.2
Berget, S.M.3
-
161
-
-
79960607075
-
Loss of exon identity is a common mechanism of human inherited disease
-
COI: 1:CAS:528:DC%2BC3MXhtlSrurfE, PID: 21750108
-
Sterne-Weiler T, Howard J, Mort M, Cooper DN, Sanford JR (2011) Loss of exon identity is a common mechanism of human inherited disease. Genome Res 21:1563–1571
-
(2011)
Genome Res
, vol.21
, pp. 1563-1571
-
-
Sterne-Weiler, T.1
Howard, J.2
Mort, M.3
Cooper, D.N.4
Sanford, J.R.5
-
162
-
-
33846984935
-
Transcriptional noise and the fidelity of initiation by RNA polymerase II
-
COI: 1:CAS:528:DC%2BD2sXht1Gqurs%3D, PID: 17277804
-
Struhl K (2007) Transcriptional noise and the fidelity of initiation by RNA polymerase II. Nat Struct Mol Biol 14:103–105
-
(2007)
Nat Struct Mol Biol
, vol.14
, pp. 103-105
-
-
Struhl, K.1
-
163
-
-
34547119966
-
The shuttling SR protein 9G8 plays a role in translation of unspliced mRNA containing a constitutive transport element
-
COI: 1:CAS:528:DC%2BD2sXntFWqsr8%3D, PID: 17513303
-
Swartz JE, Bor YC, Misawa Y, Rekosh D, Hammarskjold ML (2007) The shuttling SR protein 9G8 plays a role in translation of unspliced mRNA containing a constitutive transport element. J Biol Chem 282:19844–19853
-
(2007)
J Biol Chem
, vol.282
, pp. 19844-19853
-
-
Swartz, J.E.1
Bor, Y.C.2
Misawa, Y.3
Rekosh, D.4
Hammarskjold, M.L.5
-
164
-
-
84974530326
-
Molecular basis and therapeutic strategies to rescue factor IX variants that affect splicing and protein function
-
PID: 27227676
-
Tajnik M, Rogalska ME, Bussani E, Barbon E, Balestra D, Pinotti M, Pagani F (2016) Molecular basis and therapeutic strategies to rescue factor IX variants that affect splicing and protein function. PLoS Genet 12:e1006082
-
(2016)
PLoS Genet
, vol.12
-
-
Tajnik, M.1
Rogalska, M.E.2
Bussani, E.3
Barbon, E.4
Balestra, D.5
Pinotti, M.6
Pagani, F.7
-
165
-
-
35348897138
-
Role of purine-rich exonic splicing enhancers in nuclear retention of pre-mRNAs
-
COI: 1:CAS:528:DC%2BD2sXpvVOjsLY%3D, PID: 17699631
-
Taniguchi I, Masuyama K, Ohno M (2007) Role of purine-rich exonic splicing enhancers in nuclear retention of pre-mRNAs. Proc Natl Acad Sci USA 104:13684–13689
-
(2007)
Proc Natl Acad Sci USA
, vol.104
, pp. 13684-13689
-
-
Taniguchi, I.1
Masuyama, K.2
Ohno, M.3
-
166
-
-
34147165220
-
Recent human effective population size estimated from linkage disequilibrium
-
COI: 1:CAS:528:DC%2BD2sXktFGntrw%3D, PID: 17351134
-
Tenesa A, Navarro P, Hayes BJ, Duffy DL, Clarke GM, Goddard ME, Visscher PM (2007) Recent human effective population size estimated from linkage disequilibrium. Genome Res 17:520–526
-
(2007)
Genome Res
, vol.17
, pp. 520-526
-
-
Tenesa, A.1
Navarro, P.2
Hayes, B.J.3
Duffy, D.L.4
Clarke, G.M.5
Goddard, M.E.6
Visscher, P.M.7
-
167
-
-
80053052971
-
Contribution of bioinformatics predictions and functional splicing assays to the interpretation of unclassified variants of the BRCA genes
-
COI: 1:CAS:528:DC%2BC3MXht1ajtLjE, PID: 21673748
-
Thery JC et al (2011) Contribution of bioinformatics predictions and functional splicing assays to the interpretation of unclassified variants of the BRCA genes. Eur J Hum Genet 19:1052–1058
-
(2011)
Eur J Hum Genet
, vol.19
, pp. 1052-1058
-
-
Thery, J.C.1
-
168
-
-
47149097787
-
A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects
-
COI: 1:CAS:528:DC%2BD1MXhtVGgsLc%3D, PID: 18561205
-
Tournier I et al (2008) A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects. Hum Mutat 29:1412–1424
-
(2008)
Hum Mutat
, vol.29
, pp. 1412-1424
-
-
Tournier, I.1
-
169
-
-
10744227931
-
Mammalian overlapping genes: the comparative perspective
-
COI: 1:CAS:528:DC%2BD2cXhsFKhs7o%3D, PID: 14762064
-
Veeramachaneni V, Makalowski W, Galdzicki M, Sood R, Makalowska I (2004) Mammalian overlapping genes: the comparative perspective. Genome Res 14:280–286
-
(2004)
Genome Res
, vol.14
, pp. 280-286
-
-
Veeramachaneni, V.1
Makalowski, W.2
Galdzicki, M.3
Sood, R.4
Makalowska, I.5
-
170
-
-
84885909715
-
Integrative analysis of tissue-specific methylation and alternative splicing identifies conserved transcription factor binding motifs
-
COI: 1:CAS:528:DC%2BC3sXhsFOksLjO, PID: 23887936
-
Wan J, Oliver VF, Zhu H, Zack DJ, Qian J, Merbs SL (2013) Integrative analysis of tissue-specific methylation and alternative splicing identifies conserved transcription factor binding motifs. Nucleic Acids Res 41:8503–8514
-
(2013)
Nucleic Acids Res
, vol.41
, pp. 8503-8514
-
-
Wan, J.1
Oliver, V.F.2
Zhu, H.3
Zack, D.J.4
Qian, J.5
Merbs, S.L.6
-
171
-
-
57149100569
-
The impact of the nucleosome code on protein-coding sequence evolution in yeast
-
PID: 18989456
-
Warnecke T, Batada NN, Hurst LD (2008a) The impact of the nucleosome code on protein-coding sequence evolution in yeast. PLoS Genet 4:e1000250
-
(2008)
PLoS Genet
, vol.4
-
-
Warnecke, T.1
Batada, N.N.2
Hurst, L.D.3
-
172
-
-
43549084386
-
Finding exonic islands in a sea of non-coding sequence: splicing related constraints on protein composition and evolution are common in intron-rich genomes
-
PID: 18257921
-
Warnecke T, Parmley JL, Hurst LD (2008b) Finding exonic islands in a sea of non-coding sequence: splicing related constraints on protein composition and evolution are common in intron-rich genomes. Genome Biol 9:R29
-
(2008)
Genome Biol
, vol.9
, pp. R29
-
-
Warnecke, T.1
Parmley, J.L.2
Hurst, L.D.3
-
173
-
-
84976520941
-
dbDSM: a manually curated database for deleterious synonymous mutations
-
COI: 1:CAS:528:DC%2BC28XhsF2lsbzP, PID: 27153700
-
Wen P, Xiao P, Xia J (2016) dbDSM: a manually curated database for deleterious synonymous mutations. Bioinformatics 32:1914–1916
-
(2016)
Bioinformatics
, vol.32
, pp. 1914-1916
-
-
Wen, P.1
Xiao, P.2
Xia, J.3
-
174
-
-
84855266301
-
A population genetics-phylogenetics approach to inferring natural selection in coding sequences
-
COI: 1:CAS:528:DC%2BC3MXhs1Ggur3K, PID: 22144911
-
Wilson DJ, Hernandez RD, Andolfatto P, Przeworski M (2011) A population genetics-phylogenetics approach to inferring natural selection in coding sequences. PLoS Genet 7:e1002395
-
(2011)
PLoS Genet
, vol.7
-
-
Wilson, D.J.1
Hernandez, R.D.2
Andolfatto, P.3
Przeworski, M.4
-
175
-
-
77949480756
-
Genomic features defining exonic variants that modulate splicing
-
PID: 20158892
-
Woolfe A, Mullikin JC, Elnitski L (2010) Genomic features defining exonic variants that modulate splicing. Genome Biol 11:R20
-
(2010)
Genome Biol
, vol.11
, pp. R20
-
-
Woolfe, A.1
Mullikin, J.C.2
Elnitski, L.3
-
176
-
-
0006713602
-
Identification of the breast cancer susceptibility gene BRCA2
-
COI: 1:CAS:528:DyaK28XltFWi, PID: 8524414
-
Wooster R et al (1995) Identification of the breast cancer susceptibility gene BRCA2. Nature 378:789–792
-
(1995)
Nature
, vol.378
, pp. 789-792
-
-
Wooster, R.1
-
177
-
-
0002878320
-
Physiological and evolutionary theories of dominance
-
Wright S (1934) Physiological and evolutionary theories of dominance. Am Nat 68:24–53
-
(1934)
Am Nat
, vol.68
, pp. 24-53
-
-
Wright, S.1
-
178
-
-
84931289173
-
Why selection might be stronger when populations are small: intron size and density predict within and between-species usage of exonic splice associated cis-motifs
-
PID: 25771198
-
Wu X, Hurst LD (2015) Why selection might be stronger when populations are small: intron size and density predict within and between-species usage of exonic splice associated cis-motifs. Mol Biol Evol 32:1847–1861
-
(2015)
Mol Biol Evol
, vol.32
, pp. 1847-1861
-
-
Wu, X.1
Hurst, L.D.2
-
179
-
-
84964608718
-
Determinants of the usage of splice-associated cis-motifs predict the distribution of human pathogenic SNPs
-
COI: 1:CAS:528:DC%2BC28XhslWksrfF, PID: 26545919
-
Wu X, Hurst LD (2016) Determinants of the usage of splice-associated cis-motifs predict the distribution of human pathogenic SNPs. Mol Biol Evol 33:518–529
-
(2016)
Mol Biol Evol
, vol.33
, pp. 518-529
-
-
Wu, X.1
Hurst, L.D.2
-
180
-
-
23244443123
-
Distribution of exonic splicing enhancer elements in human genes
-
COI: 1:CAS:528:DC%2BD2MXmvFCrtLg%3D, PID: 16005179
-
Wu Y, Zhang Y, Zhang J (2005) Distribution of exonic splicing enhancer elements in human genes. Genomics 86:329–336
-
(2005)
Genomics
, vol.86
, pp. 329-336
-
-
Wu, Y.1
Zhang, Y.2
Zhang, J.3
-
181
-
-
77950357450
-
A splicing-independent function of SF2/ASF in microRNA processing
-
COI: 1:CAS:528:DC%2BC3cXlvFynsbo%3D, PID: 20385090
-
Wu H, Sun S, Tu K, Gao Y, Xie B, Krainer AR, Zhu J (2010) A splicing-independent function of SF2/ASF in microRNA processing. Mol Cell 38:67–77
-
(2010)
Mol Cell
, vol.38
, pp. 67-77
-
-
Wu, H.1
Sun, S.2
Tu, K.3
Gao, Y.4
Xie, B.5
Krainer, A.R.6
Zhu, J.7
-
182
-
-
84926652259
-
Reassessing the “duon” hypothesis of protein evolution
-
COI: 1:CAS:528:DC%2BC28Xhs12rsLjO, PID: 25582593
-
Xing K, He X (2015) Reassessing the “duon” hypothesis of protein evolution. Mol Biol Evol 32:1056–1062
-
(2015)
Mol Biol Evol
, vol.32
, pp. 1056-1062
-
-
Xing, K.1
He, X.2
-
183
-
-
26444593981
-
Evidence of functional selection pressure for alternative splicing events that accelerate evolution of protein subsequences
-
COI: 1:CAS:528:DC%2BD2MXhtVygtr7M, PID: 16157889
-
Xing Y, Lee C (2005) Evidence of functional selection pressure for alternative splicing events that accelerate evolution of protein subsequences. Proc Natl Acad Sci USA 102:13526–13531
-
(2005)
Proc Natl Acad Sci USA
, vol.102
, pp. 13526-13531
-
-
Xing, Y.1
Lee, C.2
-
184
-
-
84976870685
-
Ensembl 2016
-
COI: 1:CAS:528:DC%2BC2sXhtV2gu7fP, PID: 26687719
-
Yates A et al (2016) Ensembl 2016. Nucleic Acids Res 44:D710–D716
-
(2016)
Nucleic Acids Res
, vol.44
, pp. D710-D716
-
-
Yates, A.1
-
185
-
-
84924578243
-
HP1 is involved in regulating the global impact of DNA methylation on alternative splicing
-
COI: 1:CAS:528:DC%2BC2MXjtlSqtLw%3D, PID: 25704815
-
Yearim A et al (2015) HP1 is involved in regulating the global impact of DNA methylation on alternative splicing. Cell reports 10:1122–1134
-
(2015)
Cell reports
, vol.10
, pp. 1122-1134
-
-
Yearim, A.1
-
186
-
-
84873323035
-
Direct competition between hnRNP C and U2AF65 protects the transcriptome from the exonization of Alu elements
-
COI: 1:CAS:528:DC%2BC3sXhvFSrsrg%3D, PID: 23374342
-
Zarnack K et al (2013) Direct competition between hnRNP C and U2AF65 protects the transcriptome from the exonization of Alu elements. Cell 152:453–466
-
(2013)
Cell
, vol.152
, pp. 453-466
-
-
Zarnack, K.1
-
187
-
-
79251564926
-
GC content around splice sites affects splicing through pre-mRNA secondary structures
-
COI: 1:CAS:528:DC%2BC3MXhvFagt7w%3D, PID: 21281513
-
Zhang J, Kuo CJ, Chen L (2011) GC content around splice sites affects splicing through pre-mRNA secondary structures. BMC genomics 12:90
-
(2011)
BMC genomics
, vol.12
, pp. 90
-
-
Zhang, J.1
Kuo, C.J.2
Chen, L.3
-
188
-
-
84881493949
-
Prediction of clustered RNA-binding protein motif sites in the mammalian genome
-
COI: 1:CAS:528:DC%2BC3sXht1Cktb%2FN, PID: 23685613
-
Zhang C, Lee KY, Swanson MS, Darnell RB (2013) Prediction of clustered RNA-binding protein motif sites in the mammalian genome. Nucleic Acids Res 41:6793–6807
-
(2013)
Nucleic Acids Res
, vol.41
, pp. 6793-6807
-
-
Zhang, C.1
Lee, K.Y.2
Swanson, M.S.3
Darnell, R.B.4
|