-
1
-
-
55549101623
-
DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome
-
Ley TJ, Mardis ER, Ding L, Fulton B, McLellan MD, Chen K et al. DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome. Nature 2008; 456: 66-72.
-
(2008)
Nature
, vol.456
, pp. 66-72
-
-
Ley, T.J.1
Mardis, E.R.2
Ding, L.3
Fulton, B.4
McLellan, M.D.5
Chen, K.6
-
2
-
-
84878372012
-
Genomic and epigenomic landscapes of adult de novo acute myeloid leukemia
-
Cancer Genome Atlas Research Network. Genomic and epigenomic landscapes of adult de novo acute myeloid leukemia. N Engl J Med 2013; 368: 2059-2074.
-
(2013)
N Engl J Med
, vol.368
, pp. 2059-2074
-
-
-
3
-
-
80053900941
-
Frequent pathway mutations of splicing machinery in myelodysplasia
-
Yoshida K, Sanada M, Shiraishi Y, Nowak D, Nagata Y, Yamamoto R et al. Frequent pathway mutations of splicing machinery in myelodysplasia. Nature 2011; 478: 64-69.
-
(2011)
Nature
, vol.478
, pp. 64-69
-
-
Yoshida, K.1
Sanada, M.2
Shiraishi, Y.3
Nowak, D.4
Nagata, Y.5
Yamamoto, R.6
-
4
-
-
80054010617
-
Somatic SF3B1 mutation in myelodysplasia with ring sideroblasts
-
Papaemmanuil E, Cazzola M, Boultwood J, Malcovati L, Vyas P, Bowen D et al. Somatic SF3B1 mutation in myelodysplasia with ring sideroblasts. N Engl J Med 2011; 365: 1384-1395.
-
(2011)
N Engl J Med
, vol.365
, pp. 1384-1395
-
-
Papaemmanuil, E.1
Cazzola, M.2
Boultwood, J.3
Malcovati, L.4
Vyas, P.5
Bowen, D.6
-
5
-
-
84893772765
-
Landscape of genetic lesions in 944 patients with myelodysplastic syndromes
-
Haferlach T, Nagata Y, Grossmann V, Okuno Y, Bacher U, Nagae G et al. Landscape of genetic lesions in 944 patients with myelodysplastic syndromes. Leukemia 2013; 28: 241-247.
-
(2013)
Leukemia
, vol.28
, pp. 241-247
-
-
Haferlach, T.1
Nagata, Y.2
Grossmann, V.3
Okuno, Y.4
Bacher, U.5
Nagae, G.6
-
6
-
-
84878900540
-
Clonal diversity of recurrently mutated genes in myelodysplastic syndromes
-
Walter MJ, Shen D, Shao J, Ding L, White BS, Kandoth C et al. Clonal diversity of recurrently mutated genes in myelodysplastic syndromes. Leukemia 2013; 27: 1275-1282.
-
(2013)
Leukemia
, vol.27
, pp. 1275-1282
-
-
Walter, M.J.1
Shen, D.2
Shao, J.3
Ding, L.4
White, B.S.5
Kandoth, C.6
-
7
-
-
78649906060
-
DNMT3A mutations in acute myeloid leukemia
-
Ley TJ, Ding L, Walter MJ, McLellan MD, Lamprecht T, Larson DE et al. DNMT3A mutations in acute myeloid leukemia. N Engl J Med 2010; 363: 2424-2433.
-
(2010)
N Engl J Med
, vol.363
, pp. 2424-2433
-
-
Ley, T.J.1
Ding, L.2
Walter, M.J.3
McLellan, M.D.4
Lamprecht, T.5
Larson, D.E.6
-
8
-
-
66249137734
-
Mutation in TET2 in myeloid cancers
-
Delhommeau F, Dupont S, Della Valle V, James C, Trannoy S, Masse A et al. Mutation in TET2 in myeloid cancers. N Engl J Med 2009; 360: 2289-2301.
-
(2009)
N Engl J Med
, vol.360
, pp. 2289-2301
-
-
Delhommeau, F.1
Dupont, S.2
Della Valle, V.3
James, C.4
Trannoy, S.5
Masse, A.6
-
9
-
-
77955085750
-
Inactivating mutations of the histone methyltransferase gene EZH2 in myeloid disorders
-
Ernst T, Chase AJ, Score J, Hidalgo-Curtis CE, Bryant C, Jones AV et al. Inactivating mutations of the histone methyltransferase gene EZH2 in myeloid disorders. Nat Genet 2010; 42: 722-726.
-
(2010)
Nat Genet
, vol.42
, pp. 722-726
-
-
Ernst, T.1
Chase, A.J.2
Score, J.3
Hidalgo-Curtis, C.E.4
Bryant, C.5
Jones, A.V.6
-
10
-
-
70149093912
-
Recurring mutations found by sequencing an acute myeloid leukemia genome
-
Mardis ER, Ding L, Dooling DJ, Larson DE, McLellan MD, Chen K et al. Recurring mutations found by sequencing an acute myeloid leukemia genome. N Engl J Med 2009; 361: 1058-1066.
-
(2009)
N Engl J Med
, vol.361
, pp. 1058-1066
-
-
Mardis, E.R.1
Ding, L.2
Dooling, D.J.3
Larson, D.E.4
McLellan, M.D.5
Chen, K.6
-
11
-
-
77957987676
-
Novel homo-and hemizygous mutations in EZH2 in myeloid malignancies
-
Makishima H, Jankowska AM, Tiu RV, Szpurka H, Sugimoto Y, Hu Z et al. Novel homo-and hemizygous mutations in EZH2 in myeloid malignancies. Leukemia 2010; 24: 1799-1804.
-
(2010)
Leukemia
, vol.24
, pp. 1799-1804
-
-
Makishima, H.1
Jankowska, A.M.2
Tiu, R.V.3
Szpurka, H.4
Sugimoto, Y.5
Hu, Z.6
-
12
-
-
84878947680
-
SETBP1 mutations in 658 patients with myelodysplastic syndromes, chronic myelomo-nocytic leukemia and secondary acute myeloid leukemias
-
Damm F, Itzykson R, Kosmider O, Droin N, Renneville A, Chesnais V et al. SETBP1 mutations in 658 patients with myelodysplastic syndromes, chronic myelomo-nocytic leukemia and secondary acute myeloid leukemias. Leukemia 2013; 27: 1401-1403.
-
(2013)
Leukemia
, vol.27
, pp. 1401-1403
-
-
Damm, F.1
Itzykson, R.2
Kosmider, O.3
Droin, N.4
Renneville, A.5
Chesnais, V.6
-
13
-
-
84880976662
-
Somatic SETBP1 mutations in myeloid malignancies
-
Makishima H, Yoshida K, Nguyen N, Przychodzen B, Sanada M, Okuno Y et al. Somatic SETBP1 mutations in myeloid malignancies. Nat Genet 2013; 45: 942-946.
-
(2013)
Nat Genet
, vol.45
, pp. 942-946
-
-
Makishima, H.1
Yoshida, K.2
Nguyen, N.3
Przychodzen, B.4
Sanada, M.5
Okuno, Y.6
-
14
-
-
84883744431
-
Novel recurrent mutations in the RAS-like GTP-binding gene RIT1 in myeloid malignancies
-
Gomez-Segui I, Makishima H, Jerez A, Yoshida K, Przychodzen B, Miyano S et al. Novel recurrent mutations in the RAS-like GTP-binding gene RIT1 in myeloid malignancies. Leukemia 2013; 27: 1943-1946.
-
(2013)
Leukemia
, vol.27
, pp. 1943-1946
-
-
Gomez-Segui, I.1
Makishima, H.2
Jerez, A.3
Yoshida, K.4
Przychodzen, B.5
Miyano, S.6
-
15
-
-
84857994411
-
SF3B1, a splicing factor is frequently mutated in refractory anemia with ring sideroblasts
-
Visconte V, Makishima H, Jankowska A, Szpurka H, Traina F, Jerez A et al. SF3B1, a splicing factor is frequently mutated in refractory anemia with ring sideroblasts. Leukemia 2012; 26: 542-545.
-
(2012)
Leukemia
, vol.26
, pp. 542-545
-
-
Visconte, V.1
Makishima, H.2
Jankowska, A.3
Szpurka, H.4
Traina, F.5
Jerez, A.6
-
16
-
-
84859597590
-
Mutations in the spliceosome machinery, a novel and ubiquitous pathway in leukemogenesis
-
Makishima H, Visconte V, Sakaguchi H, Jankowska AM, Abu Kar S, Jerez A et al. Mutations in the spliceosome machinery, a novel and ubiquitous pathway in leukemogenesis. Blood 2012; 119: 3203-3210.
-
(2012)
Blood
, vol.119
, pp. 3203-3210
-
-
Makishima, H.1
Visconte, V.2
Sakaguchi, H.3
Jankowska, A.M.4
Abu Kar, S.5
Jerez, A.6
-
17
-
-
84859595800
-
Mutations affecting mRNA splicing define distinct clinical phenotypes and correlate with patient outcome in myelodysplastic syndromes
-
Damm F, Kosmider O, Gelsi-Boyer V, Renneville A, Carbuccia N, Hidalgo-Curtis C et al. Mutations affecting mRNA splicing define distinct clinical phenotypes and correlate with patient outcome in myelodysplastic syndromes. Blood 2012; 119: 3211-3218.
-
(2012)
Blood
, vol.119
, pp. 3211-3218
-
-
Damm, F.1
Kosmider, O.2
Gelsi-Boyer, V.3
Renneville, A.4
Carbuccia, N.5
Hidalgo-Curtis, C.6
-
18
-
-
84860513145
-
The spliceosome: A flexible, reversible macromolecular machine
-
Hoskins AA, Moore MJ. The spliceosome: a flexible, reversible macromolecular machine. Trends Biochem Sci 2012; 37: 179-188.
-
(2012)
Trends Biochem Sci
, vol.37
, pp. 179-188
-
-
Hoskins, A.A.1
Moore, M.J.2
-
19
-
-
84863481799
-
Defects in spliceosomal machinery: A new pathway of leukaemogenesis
-
Maciejewski JP, Padgett RA. Defects in spliceosomal machinery: a new pathway of leukaemogenesis. Br J Haematol 2012; 158: 165-173.
-
(2012)
Br J Haematol
, vol.158
, pp. 165-173
-
-
Maciejewski, J.P.1
Padgett, R.A.2
-
20
-
-
17844395704
-
Prp8 protein: At the heart of the spliceosome
-
Grainger RJ, Beggs JD. Prp8 protein: at the heart of the spliceosome. RNA 2005; 11: 533-557.
-
(2005)
RNA
, vol.11
, pp. 533-557
-
-
Grainger, R.J.1
Beggs, J.D.2
-
21
-
-
84873629024
-
Crystal structure of Prp8 reveals active site cavity of the spliceosome
-
Galej WP, Oubridge C, Newman AJ, Nagai K. Crystal structure of Prp8 reveals active site cavity of the spliceosome. Nature 2013; 493: 638-643.
-
(2013)
Nature
, vol.493
, pp. 638-643
-
-
Galej, W.P.1
Oubridge, C.2
Newman, A.J.3
Nagai, K.4
-
22
-
-
0028016354
-
U4/U5/U6 snRNP recognizes the 5' splice site in the absence of U2 snRNP
-
Konforti BB, Konarska MM. U4/U5/U6 snRNP recognizes the 5' splice site in the absence of U2 snRNP. Genes Dev 1994; 8: 1962-1973.
-
(1994)
Genes Dev
, vol.8
, pp. 1962-1973
-
-
Konforti, B.B.1
Konarska, M.M.2
-
23
-
-
0033028397
-
The human Prp8 protein is a component of both U2-and U12-dependent spliceosomes
-
Luo HR, Moreau GA, Levin N, Moore MJ. The human Prp8 protein is a component of both U2-and U12-dependent spliceosomes. RNA 1999; 5: 893-908.
-
(1999)
RNA
, vol.5
, pp. 893-908
-
-
Luo, H.R.1
Moreau, G.A.2
Levin, N.3
Moore, M.J.4
-
24
-
-
84878910487
-
A conforma-tional switch in PRP8 mediates metal ion coordination that promotes pre-mRNA exon ligation
-
Schellenberg MJ, Wu T, Ritchie DB, Fica S, Staley JP, Atta KA et al. A conforma-tional switch in PRP8 mediates metal ion coordination that promotes pre-mRNA exon ligation. Nat Struct Mol Biol 2013; 20: 728-734.
-
(2013)
Nat Struct Mol Biol
, vol.20
, pp. 728-734
-
-
Schellenberg, M.J.1
Wu, T.2
Ritchie, D.B.3
Fica, S.4
Staley, J.P.5
Atta, K.A.6
-
25
-
-
0035878541
-
Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13)
-
McKie AB, McHale JC, Keen TJ, Tarttelin EE, Goliath R, van Lith-Verhoeven JJ et al. Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13). Hum Mol Genet 2001; 10: 1555-1562.
-
(2001)
Hum Mol Genet
, vol.10
, pp. 1555-1562
-
-
McKie, A.B.1
McHale, J.C.2
Keen, T.J.3
Tarttelin, E.E.4
Goliath, R.5
Van Lith-Verhoeven, J.J.6
-
26
-
-
77951794446
-
Prognosis for splicing factor PRPF8 retinitis pigmentosa, novel mutations and correlation between human and yeast phenotypes
-
Towns KV, Kipioti A, Long V, McKibbin M, Maubaret C, Vaclavik V et al. Prognosis for splicing factor PRPF8 retinitis pigmentosa, novel mutations and correlation between human and yeast phenotypes. Hum Mutat 2010; 31: E1361-E1376.
-
(2010)
Hum Mutat
, vol.31
, pp. E1361-E1376
-
-
Towns, K.V.1
Kipioti, A.2
Long, V.3
McKibbin, M.4
Maubaret, C.5
Vaclavik, V.6
-
28
-
-
84886905271
-
Patterns of missplicing due to somatic U2AF1 mutations in myeloid neoplasms
-
Przychodzen B, Jerez A, Guinta K, Sekeres MA, Padgett R, Maciejewski JP et al. Patterns of missplicing due to somatic U2AF1 mutations in myeloid neoplasms. Blood 2013; 122: 999-1006.
-
(2013)
Blood
, vol.122
, pp. 999-1006
-
-
Przychodzen, B.1
Jerez, A.2
Guinta, K.3
Sekeres, M.A.4
Padgett, R.5
Maciejewski, J.P.6
-
29
-
-
79957593717
-
CBL, CBLB, TET2, ASXL1, and IDH1/2 mutations and additional chromosomal aberrations constitute molecular events in chronic myelogenous leukemia
-
Makishima H, Jankowska AM, McDevitt MA, O'Keefe C, Dujardin S, Cazzolli H et al. CBL, CBLB, TET2, ASXL1, and IDH1/2 mutations and additional chromosomal aberrations constitute molecular events in chronic myelogenous leukemia. Blood 2011; 117: e198-e206.
-
(2011)
Blood
, vol.117
, pp. e198-e206
-
-
Makishima, H.1
Jankowska, A.M.2
McDevitt, M.A.3
O'Keefe, C.4
Dujardin, S.5
Cazzolli, H.6
-
30
-
-
84878921669
-
Multiple mechanisms deregulate EZH2 and histone H3 lysine 27 epigenetic changes in myeloid malignancies
-
Khan SN, Jankowska AM, Mahfouz R, Dunbar AJ, Sugimoto Y, Hosono N et al. Multiple mechanisms deregulate EZH2 and histone H3 lysine 27 epigenetic changes in myeloid malignancies. Leukemia 2013; 27: 1301-1309.
-
(2013)
Leukemia
, vol.27
, pp. 1301-1309
-
-
Khan, S.N.1
Jankowska, A.M.2
Mahfouz, R.3
Dunbar, A.J.4
Sugimoto, Y.5
Hosono, N.6
-
31
-
-
0027516055
-
Mutational analysis of pre-mRNA splicing in Saccharomyces cerevisiae using a sensitive new reporter gene, CUP1
-
Lesser CF, Guthrie C. Mutational analysis of pre-mRNA splicing in Saccharomyces cerevisiae using a sensitive new reporter gene, CUP1. Genetics 1993; 133: 851-863.
-
(1993)
Genetics
, vol.133
, pp. 851-863
-
-
Lesser, C.F.1
Guthrie, C.2
-
32
-
-
2342522014
-
Suppression of multiple substrate mutations by spli-ceosomal Prp8 alleles suggests functional correlations with ribosomal ambiguity mutants
-
Query CC, Konarska MM. Suppression of multiple substrate mutations by spli-ceosomal Prp8 alleles suggests functional correlations with ribosomal ambiguity mutants. Mol Cell 2004; 14: 343-354.
-
(2004)
Mol Cell
, vol.14
, pp. 343-354
-
-
Query, C.C.1
Konarska, M.M.2
-
33
-
-
2442441507
-
Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals
-
Yeo G, Burge CB. Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals. J Comput Biol 2004; 11: 377-394.
-
(2004)
J Comput Biol
, vol.11
, pp. 377-394
-
-
Yeo, G.1
Burge, C.B.2
-
34
-
-
34249890532
-
Opposing classes of Prp8 alleles modulate the transition between the catalytic steps of pre-mRNA splicing
-
Liu L, Query CC, Konarska MM. Opposing classes of Prp8 alleles modulate the transition between the catalytic steps of pre-mRNA splicing. Nat Struct Mol Biol 2007; 14: 519-526.
-
(2007)
Nat Struct Mol Biol
, vol.14
, pp. 519-526
-
-
Liu, L.1
Query, C.C.2
Konarska, M.M.3
-
35
-
-
84879692782
-
In vivo mutation of pre-mRNA processing factor 8 (Prpf8) affects transcript splicing, cell survival and myeloid differentiation
-
Keightley MC, Crowhurst MO, Layton JE, Beilharz T, Markmiller S, Varma S et al. In vivo mutation of pre-mRNA processing factor 8 (Prpf8) affects transcript splicing, cell survival and myeloid differentiation. FEBS Lett 2013; 587: 2150-2157.
-
(2013)
FEBS Lett
, vol.587
, pp. 2150-2157
-
-
Keightley, M.C.1
Crowhurst, M.O.2
Layton, J.E.3
Beilharz, T.4
Markmiller, S.5
Varma, S.6
-
36
-
-
84871236747
-
Emerging roles of the spliceo-somal machinery in myelodysplastic syndromes and other hematological disorders
-
Visconte V, Makishima H, Maciejewski JP, Tiu RV. Emerging roles of the spliceo-somal machinery in myelodysplastic syndromes and other hematological disorders. Leukemia 2012; 26: 2447-2454.
-
(2012)
Leukemia
, vol.26
, pp. 2447-2454
-
-
Visconte, V.1
Makishima, H.2
Maciejewski, J.P.3
Tiu, R.V.4
-
37
-
-
0032006824
-
17p Deletion in acute myeloid leukemia and myelodysplastic syndrome. Analysis of breakpoints and deleted segments by fluorescence in situ
-
Soenen V, Preudhomme C, Roumier C, Daudignon A, Lai JL, Fenaux P. 17p Deletion in acute myeloid leukemia and myelodysplastic syndrome. Analysis of breakpoints and deleted segments by fluorescence in situ. Blood 1998; 91: 1008-1015.
-
(1998)
Blood
, vol.91
, pp. 1008-1015
-
-
Soenen, V.1
Preudhomme, C.2
Roumier, C.3
Daudignon, A.4
Lai, J.L.5
Fenaux, P.6
-
38
-
-
84871985001
-
P53 is activated in response to disruption of the pre-mRNA splicing machinery
-
Allende-Vega N, Dayal S, Agarwala U, Sparks A, Bourdon JC, Saville MK. p53 is activated in response to disruption of the pre-mRNA splicing machinery. Onco-gene 2012; 32: 1-14.
-
(2012)
Onco-gene
, vol.32
, pp. 1-14
-
-
Allende-Vega, N.1
Dayal, S.2
Agarwala, U.3
Sparks, A.4
Bourdon, J.C.5
Saville, M.K.6
-
39
-
-
46349103594
-
A mitochondrial protein compendium elucidates complex i disease biology
-
Pagliarini DJ, Calvo SE, Chang B, Sheth SA, Vafai SB, Ong SE et al. A mitochondrial protein compendium elucidates complex I disease biology. Cell 2008; 134: 112-123.
-
(2008)
Cell
, vol.134
, pp. 112-123
-
-
Pagliarini, D.J.1
Calvo, S.E.2
Chang, B.3
Sheth, S.A.4
Vafai, S.B.5
Ong, S.E.6
-
40
-
-
82555168324
-
Mutations in the gene encoding C8orf38 block complex i assembly by inhibiting production of the mitochondria-encoded subunit ND1
-
McKenzie M, Tucker EJ, Compton AG, Lazarou M, George C, Thorburn DR et al. Mutations in the gene encoding C8orf38 block complex I assembly by inhibiting production of the mitochondria-encoded subunit ND1. J Mol Biol 2011; 414: 413-426.
-
(2011)
J Mol Biol
, vol.414
, pp. 413-426
-
-
McKenzie, M.1
Tucker, E.J.2
Compton, A.G.3
Lazarou, M.4
George, C.5
Thorburn, D.R.6
-
41
-
-
26444444737
-
Roles of CTPL/Sfxn3 and Sfxn family members in pancreatic islet
-
Yoshikumi Y, Mashima H, Ueda N, Ohno H, Suzuki J, Tanaka S et al. Roles of CTPL/Sfxn3 and Sfxn family members in pancreatic islet. J Cell Biochem 2005; 95: 1157-1168.
-
(2005)
J Cell Biochem
, vol.95
, pp. 1157-1168
-
-
Yoshikumi, Y.1
Mashima, H.2
Ueda, N.3
Ohno, H.4
Suzuki, J.5
Tanaka, S.6
-
42
-
-
0038634878
-
Isolation and characterization of a novel human putative anemia-related gene homologous to mouse sideroflexin
-
Ye X, Xu J, Cheng C, Yin G, Zeng L, Ji C et al. Isolation and characterization of a novel human putative anemia-related gene homologous to mouse sideroflexin. Biochem Genet 2003; 41: 119-125.
-
(2003)
Biochem Genet
, vol.41
, pp. 119-125
-
-
Ye, X.1
Xu, J.2
Cheng, C.3
Yin, G.4
Zeng, L.5
Ji, C.6
-
43
-
-
33750475923
-
Knockout of Slc25a19 causes mitochondrial thiamine pyrophosphate depletion, embryonic lethality, CNS malformations, and anemia
-
Lindhurst MJ, Fiermonte G, Song S, Struys E, De Leonardis F, Schwartzberg PL et al. Knockout of Slc25a19 causes mitochondrial thiamine pyrophosphate depletion, embryonic lethality, CNS malformations, and anemia. Proc Natl Acad Sci USA 2006; 103: 15927-15932.
-
(2006)
Proc Natl Acad Sci USA
, vol.103
, pp. 15927-15932
-
-
Lindhurst, M.J.1
Fiermonte, G.2
Song, S.3
Struys, E.4
De Leonardis, F.5
Schwartzberg, P.L.6
-
44
-
-
70350070203
-
SLC25A19 mutation as a cause of neuropathy and bilateral striatal necrosis
-
Spiegel R, Shaag A, Edvardson S, Mandel H, Stepensky P, Shalev SA et al. SLC25A19 mutation as a cause of neuropathy and bilateral striatal necrosis. Ann Neurol 2009; 66: 419-424.
-
(2009)
Ann Neurol
, vol.66
, pp. 419-424
-
-
Spiegel, R.1
Shaag, A.2
Edvardson, S.3
Mandel, H.4
Stepensky, P.5
Shalev, S.A.6
-
45
-
-
70349269040
-
Ribosomal protein S19 and S24 insufficiency cause distinct cell cycle defects in Diamond-Blackfan anemia
-
Badhai J, Frojmark AS, E JD, Schuster J, Dahl N. Ribosomal protein S19 and S24 insufficiency cause distinct cell cycle defects in Diamond-Blackfan anemia. Biochim Biophys Acta 2009; 1792: 1036-1042.
-
(2009)
Biochim Biophys Acta
, vol.1792
, pp. 1036-1042
-
-
Badhai, J.1
Frojmark, A.S.2
Jd, E.3
Schuster, J.4
Dahl, N.5
-
46
-
-
55549092113
-
A new database for ribosomal protein genes which are mutated in Diamond-Blackfan Anemia
-
Boria I, Quarello P, Avondo F, Garelli E, Aspesi A, Carando A et al. A new database for ribosomal protein genes which are mutated in Diamond-Blackfan Anemia. Hum Mutat 2008; 29: E263-E270.
-
(2008)
Hum Mutat
, vol.29
, pp. E263-E270
-
-
Boria, I.1
Quarello, P.2
Avondo, F.3
Garelli, E.4
Aspesi, A.5
Carando, A.6
-
47
-
-
0033179776
-
Allele-specific genetic interactions between Prp8 and RNA active site residues suggest a function for Prp8 at the catalytic core of the spliceosome
-
Collins CA, Guthrie C. Allele-specific genetic interactions between Prp8 and RNA active site residues suggest a function for Prp8 at the catalytic core of the spliceosome. Genes Dev 1999; 13: 1970-1982.
-
(1999)
Genes Dev
, vol.13
, pp. 1970-1982
-
-
Collins, C.A.1
Guthrie, C.2
-
48
-
-
38349138834
-
Regulation of alternative splicing: More than just the ABCs
-
House AE, Lynch KW. Regulation of alternative splicing: more than just the ABCs. J Biol Chem 2008; 283: 1217-1221.
-
(2008)
J Biol Chem
, vol.283
, pp. 1217-1221
-
-
House, A.E.1
Lynch, K.W.2
-
49
-
-
0028960809
-
A novel role for a U5 snRNP protein in 3' splice site selection
-
Umen JG, Guthrie C. A novel role for a U5 snRNP protein in 3' splice site selection. Genes Dev 1995; 9: 855-868.
-
(1995)
Genes Dev
, vol.9
, pp. 855-868
-
-
Umen, J.G.1
Guthrie, C.2
-
50
-
-
67349160971
-
Posttranscriptional down-regulation of small ribosomal subunit proteins correlates with reduction of 18S rRNA in RPS19 deficiency
-
Badhai J, Frojmark AS, Razzaghian HR, Davey E, Schuster J, Dahl N. Posttranscriptional down-regulation of small ribosomal subunit proteins correlates with reduction of 18S rRNA in RPS19 deficiency. FEBS Lett 2009; 583: 2049-2053.
-
(2009)
FEBS Lett
, vol.583
, pp. 2049-2053
-
-
Badhai, J.1
Frojmark, A.S.2
Razzaghian, H.R.3
Davey, E.4
Schuster, J.5
Dahl, N.6
-
51
-
-
52949131890
-
Crystal structure of the beta-finger domain of Prp8 reveals analogy to ribosomal proteins
-
Yang K, Zhang L, Xu T, Heroux A, Zhao R. Crystal structure of the beta-finger domain of Prp8 reveals analogy to ribosomal proteins. Proc Natl Acad Sci USA 2008; 105: 13817-13822.
-
(2008)
Proc Natl Acad Sci USA
, vol.105
, pp. 13817-13822
-
-
Yang, K.1
Zhang, L.2
Xu, T.3
Heroux, A.4
Zhao, R.5
-
52
-
-
84868592766
-
Brr2p-mediated conformational rearrangements in the spliceosome during activation and substrate repositioning
-
Hahn D, Kudla G, Tollervey D, Beggs JD. Brr2p-mediated conformational rearrangements in the spliceosome during activation and substrate repositioning. Genes Dev 2012; 26: 2408-2421.
-
(2012)
Genes Dev
, vol.26
, pp. 2408-2421
-
-
Hahn, D.1
Kudla, G.2
Tollervey, D.3
Beggs, J.D.4
|