-
1
-
-
75849145292
-
Expansion of the eukaryotic proteome by alternative splicing
-
Nilsen TW, Graveley BR. Expansion of the eukaryotic proteome by alternative splicing. Nature 2010; 463: 457-463.
-
(2010)
Nature
, vol.463
, pp. 457-463
-
-
Nilsen, T.W.1
Graveley, B.R.2
-
2
-
-
84873649587
-
Function of alternative splicing
-
[Epub ahead of print]
-
Kelemen O, Convertini P, Zhang Z, et al. Function of alternative splicing. Gene 2012 [Epub ahead of print].
-
(2012)
Gene
-
-
Kelemen, O.1
Convertini, P.2
Zhang, Z.3
-
3
-
-
0028307171
-
Split genes and RNA splicing
-
Sharp PA. Split genes and RNA splicing. Cell 1994; 77: 805-815.
-
(1994)
Cell
, vol.77
, pp. 805-815
-
-
Sharp, P.A.1
-
4
-
-
33846039709
-
ECgene: An alternative splicing database update
-
Lee Y, Kim B, Shin Y, et al. ECgene: an alternative splicing database update. Nucleic Acids Res 2007; 35: D99-D103.
-
(2007)
Nucleic Acids Res
, vol.35
-
-
Lee, Y.1
Kim, B.2
Shin, Y.3
-
5
-
-
0035393343
-
Genome-wide detection of alternative splicing in expressed sequences of human genes
-
Modrek B, Resch A, Grasso C, Lee C. Genome-wide detection of alternative splicing in expressed sequences of human genes. Nucleic Acids Res 2001; 29: 2850-2859.
-
(2001)
Nucleic Acids Res
, vol.29
, pp. 2850-2859
-
-
Modrek, B.1
Resch, A.2
Grasso, C.3
Lee, C.4
-
6
-
-
0347623371
-
Genome-wide survey of human alternative premRNA splicing with exon junction microarrays
-
Johnson JM, Castle J, Garrett-Engele P, et al. Genome-wide survey of human alternative premRNA splicing with exon junction microarrays. Science 2003; 302: 2141-2144.
-
(2003)
Science
, vol.302
, pp. 2141-2144
-
-
Johnson, J.M.1
Castle, J.2
Garrett-Engele, P.3
-
7
-
-
56749098074
-
Deep surveying of alternative splicing complexity in the human transcriptome by high-throughput sequencing
-
Pan Q, Shai O, Lee LJ, et al. Deep surveying of alternative splicing complexity in the human transcriptome by high-throughput sequencing. NatGenet 2008; 40: 1413-1415.
-
(2008)
NatGenet
, vol.40
, pp. 1413-1415
-
-
Pan, Q.1
Shai, O.2
Lee, L.J.3
-
8
-
-
56549101959
-
Alternative isoform regulation in human tissue transcriptomes
-
Wang ET, Sandberg R, Luo S, et al. Alternative isoform regulation in human tissue transcriptomes. Nature 2008; 456: 470-476.
-
(2008)
Nature
, vol.456
, pp. 470-476
-
-
Wang, E.T.1
Sandberg, R.2
Luo, S.3
-
9
-
-
61849159311
-
Effects of intronic mutations in the LDLR gene on premRNA splicing: Comparison of wet-lab and bioinformatics analyses
-
Holla OL, Nakken S, Mattingsdal M, et al. Effects of intronic mutations in the LDLR gene on premRNA splicing: comparison of wet-lab and bioinformatics analyses. Mol Genet Metab 2009; 96: 245-252.
-
(2009)
Mol Genet Metab
, vol.96
, pp. 245-252
-
-
Holla, O.L.1
Nakken, S.2
Mattingsdal, M.3
-
10
-
-
79955758640
-
Coordinately regulated alternative splicing of genes involved in cholesterol biosynthesis and uptake
-
This is the first demonstration that key regulatory genes involved in cellular cholesterol homeostasis undergo regulated alternative splicing in response to the changes in cellular sterol content
-
Medina MW, Gao F, Naidoo D, et al. Coordinately regulated alternative splicing of genes involved in cholesterol biosynthesis and uptake. PLoS One 2011; 6: e19420. This is the first demonstration that key regulatory genes involved in cellular cholesterol homeostasis undergo regulated alternative splicing in response to the changes in cellular sterol content.
-
(2011)
PLoS One
, vol.6
-
-
Medina, M.W.1
Gao, F.2
Naidoo, D.3
-
11
-
-
33747874513
-
Analysis of alternatively spliced isoforms of human LDL receptor mRNA
-
Tveten K, Ranheim T, Berge KE, et al. Analysis of alternatively spliced isoforms of human LDL receptor mRNA. Clin Chim Acta 2006; 373: 151-157.
-
(2006)
Clin Chim Acta
, vol.373
, pp. 151-157
-
-
Tveten, K.1
Ranheim, T.2
Berge, K.E.3
-
12
-
-
35548938260
-
Regulation of alternative splicing of liver scavenger receptor class B gene by estrogen and the involved regulatory splicing factors
-
Zhang X, Moor AN, Merkler KA, et al. Regulation of alternative splicing of liver scavenger receptor class B gene by estrogen and the involved regulatory splicing factors. Endocrinology 2007; 148: 5295-5304.
-
(2007)
Endocrinology
, vol.148
, pp. 5295-5304
-
-
Zhang, X.1
Moor, A.N.2
Merkler, K.A.3
-
13
-
-
77957293261
-
The adaptive significance of unproductive alternative splicing in primates
-
Skandalis A, Frampton M, Seger J, Richards MH. The adaptive significance of unproductive alternative splicing in primates. RNA 2010; 16: 2014-2022.
-
(2010)
RNA
, vol.16
, pp. 2014-2022
-
-
Skandalis, A.1
Frampton, M.2
Seger, J.3
Richards, M.H.4
-
14
-
-
77950556969
-
Spliceosomes walk the line: Splicing errors and their impact on cellular function
-
Hsu SN, Hertel KJ. Spliceosomes walk the line: splicing errors and their impact on cellular function. RNA Biol 2009; 6: 526-530.
-
(2009)
RNA Biol
, vol.6
, pp. 526-530
-
-
Hsu, S.N.1
Hertel, K.J.2
-
15
-
-
1642473041
-
How prevalent is functional alternative splicing in the human genome?
-
Sorek R, Shamir R, Ast G. How prevalent is functional alternative splicing in the human genome? Trends Genet 2004; 20: 68-71.
-
(2004)
Trends Genet
, vol.20
, pp. 68-71
-
-
Sorek, R.1
Shamir, R.2
Ast, G.3
-
17
-
-
0037155592
-
An mRNA surveillance mechanism that eliminates transcripts lacking termination codons
-
Frischmeyer PA, van Hoof A, O'Donnell K, et al. An mRNA surveillance mechanism that eliminates transcripts lacking termination codons. Science 2002; 295: 2258-2261.
-
(2002)
Science
, vol.295
, pp. 2258-2261
-
-
Frischmeyer, P.A.1
Van Hoof, A.2
O'donnell, K.3
-
18
-
-
33645277360
-
Endonucleolytic cleavage of eukaryotic mRNAs with stalls in translation elongation
-
Doma MK, Parker R. Endonucleolytic cleavage of eukaryotic mRNAs with stalls in translation elongation. Nature 2006; 440: 561-564.
-
(2006)
Nature
, vol.440
, pp. 561-564
-
-
Doma, M.K.1
Parker, R.2
-
19
-
-
80053204000
-
The origins, evolution, and functional potential of alternative splicing in vertebrates
-
Mudge JM, Frankish A, Fernandez-Banet J, et al. The origins, evolution, and functional potential of alternative splicing in vertebrates. Mol Biol Evol 2011; 28: 2949-2959.
-
(2011)
Mol Biol Evol
, vol.28
, pp. 2949-2959
-
-
Mudge, J.M.1
Frankish, A.2
Fernandez-Banet, J.3
-
20
-
-
34248368920
-
The implications of alternative splicing in the ENCODE protein complement
-
Tress ML, Martelli PL, Frankish A, et al. The implications of alternative splicing in the ENCODE protein complement. Proc Natl Acad Sci USA 2007; 104: 5495-5500.
-
(2007)
Proc Natl Acad Sci USA
, vol.104
, pp. 5495-5500
-
-
Tress, M.L.1
Martelli, P.L.2
Frankish, A.3
-
21
-
-
67649289898
-
Noisy splicing, more than expression regulation, explains why some exons are subject to nonsense-mediated mRNA decay
-
Zhang Z, Xin D, Wang P, et al. Noisy splicing, more than expression regulation, explains why some exons are subject to nonsense-mediated mRNA decay. BMC Biol 2009; 7: 23.
-
(2009)
BMC Biol
, vol.7
, pp. 23
-
-
Zhang, Z.1
Xin, D.2
Wang, P.3
-
22
-
-
48149095822
-
Alternative splicing resulting in nonsense-mediated mRNA decay: What is the meaning of nonsense?
-
McGlincy NJ, Smith CW. Alternative splicing resulting in nonsense-mediated mRNA decay: what is the meaning of nonsense? Trends Biochem Sci 2008; 33: 385-393.
-
(2008)
Trends Biochem Sci
, vol.33
, pp. 385-393
-
-
McGlincy, N.J.1
Smith, C.W.2
-
23
-
-
0037422575
-
Evidence for the widespread coupling of alternative splicing and nonsense-mediated mRNA decay in humans
-
Lewis BP, Green RE, Brenner SE. Evidence for the widespread coupling of alternative splicing and nonsense-mediated mRNA decay in humans. Proc Natl Acad Sci USA 2003; 100: 189-192.
-
(2003)
Proc Natl Acad Sci USA
, vol.100
, pp. 189-192
-
-
Lewis, B.P.1
Green, R.E.2
Brenner, S.E.3
-
24
-
-
49349112872
-
Polypyrimidine-tract-binding protein: A multifunctional RNA-binding protein
-
Sawicka K, Bushell M, Spriggs KA, Willis AE. Polypyrimidine-tract-binding protein: a multifunctional RNA-binding protein. Biochem Soc Trans 2008; 36: 641-647.
-
(2008)
Biochem Soc Trans
, vol.36
, pp. 641-647
-
-
Sawicka, K.1
Bushell, M.2
Spriggs, K.A.3
Willis, A.E.4
-
25
-
-
33645089191
-
CAMP-dependent phosphorylation of PTB1 promotes the expression of insulin secretory granule proteins in beta cells
-
Knoch KP, Meisterfeld R, Kersting S, et al. cAMP-dependent phosphorylation of PTB1 promotes the expression of insulin secretory granule proteins in beta cells. Cell Metab 2006; 3: 123-134.
-
(2006)
Cell Metab
, vol.3
, pp. 123-134
-
-
Knoch, K.P.1
Meisterfeld, R.2
Kersting, S.3
-
26
-
-
81855206691
-
The polypyrimidine tract binding protein regulates desaturase alternative splicing and PUFA composition
-
One of the first demonstrations that modulation of a splicing factor, in this case PTBP1, can modulate cellular lipid metabolism
-
Reardon HT, Park WJ, Zhang J, et al. The polypyrimidine tract binding protein regulates desaturase alternative splicing and PUFA composition. J Lipid Res 2011; 52: 2279-2286. One of the first demonstrations that modulation of a splicing factor, in this case PTBP1, can modulate cellular lipid metabolism.
-
(2011)
J Lipid Res
, vol.52
, pp. 2279-2286
-
-
Reardon, H.T.1
Park, W.J.2
Zhang, J.3
-
27
-
-
0029831071
-
A human homologue of the Drosophila sex determination factor transformer-2 has conserved splicing regulatory functions
-
Dauwalder B, Amaya-Manzanares F, Mattox W. A human homologue of the Drosophila sex determination factor transformer-2 has conserved splicing regulatory functions. Proc Natl Acad Sci USA 1996; 93: 9004-9009.
-
(1996)
Proc Natl Acad Sci USA
, vol.93
, pp. 9004-9009
-
-
Dauwalder, B.1
Amaya-Manzanares, F.2
Mattox, W.3
-
28
-
-
0032511098
-
SR-BII, an isoform of the scavenger receptor BI containing an alternate cytoplasmic tail, mediates lipid transfer between high density lipoprotein and cells
-
Webb NR, Connell PM, Graf GA, et al. SR-BII, an isoform of the scavenger receptor BI containing an alternate cytoplasmic tail, mediates lipid transfer between high density lipoprotein and cells. J Biol Chem 1998; 273: 15241-15248.
-
(1998)
J Biol Chem
, vol.273
, pp. 15241-15248
-
-
Webb, N.R.1
Connell, P.M.2
Graf, G.A.3
-
29
-
-
79960961204
-
Expression of the splicing factor gene SFRS10 is reduced in human obesity and contributes to enhanced lipogenesis
-
This study describes the identification of SFRS10, a splicing factor, associated with obesity and dyslipidemia, and specifically was the first study to demonstrate the metabolic impact of a splicing factor using an rodent model
-
Pihlajamaki J, Lerin C, Itkonen P, et al. Expression of the splicing factor gene SFRS10 is reduced in human obesity and contributes to enhanced lipogenesis. Cell Metab 2011; 14: 208-218. This study describes the identification of SFRS10, a splicing factor, associated with obesity and dyslipidemia, and specifically was the first study to demonstrate the metabolic impact of a splicing factor using an rodent model.
-
(2011)
Cell Metab
, vol.14
, pp. 208-218
-
-
Pihlajamaki, J.1
Lerin, C.2
Itkonen, P.3
-
30
-
-
84858068335
-
SFRS10-A splicing factor gene reduced in human obesity?
-
author reply 267-269
-
Brosch M, von Schonfels W, Ahrens M, et al. SFRS10-a splicing factor gene reduced in human obesity? Cell Metab 2012; 15: 265-266; author reply 267-269..
-
(2012)
Cell Metab
, vol.15
, pp. 265-266
-
-
Brosch, M.1
Von Schonfels, W.2
Ahrens, M.3
-
32
-
-
77955505564
-
Biological, clinical and population relevance of 95 loci for blood lipids
-
Teslovich TM, Musunuru K, Smith AV, et al. Biological, clinical and population relevance of 95 loci for blood lipids. Nature 2010; 466: 707-713.
-
(2010)
Nature
, vol.466
, pp. 707-713
-
-
Teslovich, T.M.1
Musunuru, K.2
Smith, A.V.3
-
33
-
-
55449105227
-
Common SNPs in HMGCR in micronesians and whites associated with LDL-cholesterol levels affect alternative splicing of exon13
-
Burkhardt R, Kenny EE, Lowe JK, et al. Common SNPs in HMGCR in micronesians and whites associated with LDL-cholesterol levels affect alternative splicing of exon13. Arterioscler Thromb Vasc Biol 2008; 28: 2078-2084.
-
(2008)
Arterioscler Thromb Vasc Biol
, vol.28
, pp. 2078-2084
-
-
Burkhardt, R.1
Kenny, E.E.2
Lowe, J.K.3
-
34
-
-
84860174535
-
Effect of HMGCR variant alleles on lowdensity lipoprotein cholesterol-lowering response to atorvastatin in healthy Korean subjects
-
Chung JY, Cho SK, Oh ES, et al. Effect of HMGCR variant alleles on lowdensity lipoprotein cholesterol-lowering response to atorvastatin in healthy Korean subjects. J Clin Pharmacol 2012; 52: 339-346.
-
(2012)
J Clin Pharmacol
, vol.52
, pp. 339-346
-
-
Chung, J.Y.1
Cho, S.K.2
Oh, E.S.3
-
35
-
-
77957726333
-
Common variants of HMGCR, CETP, APOAI, ABCB1, CYP3A4, and CYP7A1 genes as predictors of lipid-lowering response to atorvastatin therapy
-
Poduri A, Khullar M, Bahl A, et al. Common variants of HMGCR, CETP, APOAI, ABCB1, CYP3A4, and CYP7A1 genes as predictors of lipid-lowering response to atorvastatin therapy. DNA Cell Biol 2010; 29: 629-637.
-
(2010)
DNA Cell Biol
, vol.29
, pp. 629-637
-
-
Poduri, A.1
Khullar, M.2
Bahl, A.3
-
36
-
-
2942627194
-
Pharmacogenetic study of statin therapy and cholesterol reduction
-
Chasman DI, Posada D, Subrahmanyan L, et al. Pharmacogenetic study of statin therapy and cholesterol reduction. JAMA 2004; 291: 2821-2827.
-
(2004)
JAMA
, vol.291
, pp. 2821-2827
-
-
Chasman, D.I.1
Posada, D.2
Subrahmanyan, L.3
-
37
-
-
41149174566
-
Variation in the 3-hydroxyl-3-methylglutaryl coenzyme A reductase gene is associated with racial differences in low-density lipoprotein cholesterol response to simvastatin treatment
-
Krauss RM, Mangravite LM, Smith JD, et al. Variation in the 3-hydroxyl-3-methylglutaryl coenzyme A reductase gene is associated with racial differences in low-density lipoprotein cholesterol response to simvastatin treatment. Circulation 2008; 117: 1537-1544.
-
(2008)
Circulation
, vol.117
, pp. 1537-1544
-
-
Krauss, R.M.1
Mangravite, L.M.2
Smith, J.D.3
-
38
-
-
49149095635
-
Alternative splicing of 3-hydroxy-3-methylglutaryl coenzyme A reductase is associated with plasma low-density lipoprotein cholesterol response to simvastatin
-
Medina MW, Gao F, Ruan W, et al. Alternative splicing of 3-hydroxy-3-methylglutaryl coenzyme A reductase is associated with plasma low-density lipoprotein cholesterol response to simvastatin. Circulation 2008; 118: 355-362.
-
(2008)
Circulation
, vol.118
, pp. 355-362
-
-
Medina, M.W.1
Gao, F.2
Ruan, W.3
-
39
-
-
77956989082
-
Dysregulation of the mevalonate pathway promotes transformation
-
Clendening JW, Pandyra A, Boutros PC, et al. Dysregulation of the mevalonate pathway promotes transformation. Proc Natl Acad Sci USA 2010; 107: 15051-15056.
-
(2010)
Proc Natl Acad Sci USA
, vol.107
, pp. 15051-15056
-
-
Clendening, J.W.1
Pandyra, A.2
Boutros, P.C.3
-
40
-
-
77950813460
-
Genetic variation in 3-hydroxy-3-methylglutaryl CoA reductase modifies the chemopreventive activity of statins for colorectal cancer
-
Lipkin SM, Chao EC, Moreno V, et al. Genetic variation in 3-hydroxy-3-methylglutaryl CoA reductase modifies the chemopreventive activity of statins for colorectal cancer. Cancer Prev Res (Phila) 2010; 3: 597-603.
-
(2010)
Cancer Prev Res (Phila)
, vol.3
, pp. 597-603
-
-
Lipkin, S.M.1
Chao, E.C.2
Moreno, V.3
-
41
-
-
79952709976
-
Analysis of sequence variations in low-density lipoprotein receptor gene among Malaysian patients with familial hypercholesterolemia
-
Al-Khateeb A, Zahri MK, Mohamed MS, et al. Analysis of sequence variations in low-density lipoprotein receptor gene among Malaysian patients with familial hypercholesterolemia. BMC Med Genet 2011; 12: 40.
-
(2011)
BMC Med Genet
, vol.12
, pp. 40
-
-
Al-Khateeb, A.1
Zahri, M.K.2
Mohamed, M.S.3
-
42
-
-
84855828460
-
Transient infantile hypertriglyceridemia, fatty liver, and hepatic fibrosis caused by mutated GPD1, encoding glycerol-3-phosphate dehydrogenase 1
-
Basel-Vanagaite L, Zevit N, Har Zahav A, et al. Transient infantile hypertriglyceridemia, fatty liver, and hepatic fibrosis caused by mutated GPD1, encoding glycerol-3-phosphate dehydrogenase 1. Am J Hum Genet 2012; 90: 49-60.
-
(2012)
Am J Hum Genet
, vol.90
, pp. 49-60
-
-
Basel-Vanagaite, L.1
Zevit, N.2
Har Zahav, A.3
-
43
-
-
84856233223
-
Novel mutations of cholesteryl ester transfer protein (CETP) gene in Japanese hyperalphalipoproteinemic subjects
-
Ohtani R, Inazu A, Noji Y, et al. Novel mutations of cholesteryl ester transfer protein (CETP) gene in Japanese hyperalphalipoproteinemic subjects. Clin Chim Acta 2012; 413: 537-543.
-
(2012)
Clin Chim Acta
, vol.413
, pp. 537-543
-
-
Ohtani, R.1
Inazu, A.2
Noji, Y.3
-
44
-
-
67349108321
-
Novel mutations of CETP gene in Italian subjects with hyperalphalipoproteinemia
-
Cefalu AB, Noto D, Magnolo L, et al. Novel mutations of CETP gene in Italian subjects with hyperalphalipoproteinemia. Atherosclerosis 2009; 204: 202-207.
-
(2009)
Atherosclerosis
, vol.204
, pp. 202-207
-
-
Cefalu, A.B.1
Noto, D.2
Magnolo, L.3
-
45
-
-
79959720328
-
A severe form of abetalipoproteinemia caused by new splicing mutations of microsomal triglyceride transfer protein (MTTP)
-
Pons V, Rolland C, Nauze M, et al. A severe form of abetalipoproteinemia caused by new splicing mutations of microsomal triglyceride transfer protein (MTTP). Hum Mutat 2011; 32: 751-759.
-
(2011)
Hum Mutat
, vol.32
, pp. 751-759
-
-
Pons, V.1
Rolland, C.2
Nauze, M.3
-
46
-
-
84857734873
-
Molecular and functional analysis of two new MTTP gene mutations in an atypical case of abetalipoproteinemia
-
Di Filippo M, Crehalet H, Samson-Bouma ME, et al. Molecular and functional analysis of two new MTTP gene mutations in an atypical case of abetalipoproteinemia. J Lipid Res 2012; 53: 548-555.
-
(2012)
J Lipid Res
, vol.53
, pp. 548-555
-
-
Di Filippo, M.1
Crehalet, H.2
Samson-Bouma, M.E.3
-
47
-
-
77955302138
-
Discordant phenotype and sterol biochemistry in Smith-Lemli-Opitz syndrome
-
Koo G, Conley SK, Wassif CA, Porter FD. Discordant phenotype and sterol biochemistry in Smith-Lemli-Opitz syndrome. Am J Med Genet A 2010; 152A: 2094-2098.
-
(2010)
Am J Med Genet A
, vol.152 A
, pp. 2094-2098
-
-
Koo, G.1
Conley, S.K.2
Wassif, C.A.3
Porter, F.D.4
-
48
-
-
44949243027
-
Regulation of luteinizing hormone receptor mRNA expression by mevalonate kinase-role of the catalytic center in mRNA recognition
-
Nair AK, Young MA, Menon KM. Regulation of luteinizing hormone receptor mRNA expression by mevalonate kinase-role of the catalytic center in mRNA recognition. FEBS J 2008; 275: 3397-3407.
-
(2008)
FEBS J
, vol.275
, pp. 3397-3407
-
-
Nair, A.K.1
Young, M.A.2
Menon, K.M.3
-
49
-
-
80053045739
-
Molecular mechanisms of long noncoding RNAs
-
Wang KC, Chang HY. Molecular mechanisms of long noncoding RNAs. Mol Cell 2011; 43: 904-914.
-
(2011)
Mol Cell
, vol.43
, pp. 904-914
-
-
Wang, K.C.1
Chang, H.Y.2
|