-
1
-
-
0019413659
-
Progressive sensory loss in familial dysautonomia
-
Axelrod FB, Iyer K, Fish I, Pearson J, Sein ME, et al. (1981) Progressive sensory loss in familial dysautonomia. Pediatrics 67: 517-22.
-
(1981)
Pediatrics
, vol.67
, pp. 517-522
-
-
Axelrod, F.B.1
Iyer, K.2
Fish, I.3
Pearson, J.4
Sein, M.E.5
-
2
-
-
0017927931
-
Quantitative studies of dorsal root ganglia and neuropathologic observations on spinal cords in familial dysautonomia
-
Pearson J, Pytel BA, Grover-Johnson N, Axelrod F, Dancis J (1978) Quantitative studies of dorsal root ganglia and neuropathologic observations on spinal cords in familial dysautonomia. J Neurol Sci 35: 77-92.
-
(1978)
J Neurol Sci
, vol.35
, pp. 77-92
-
-
Pearson, J.1
Pytel, B.A.2
Grover-Johnson, N.3
Axelrod, F.4
Dancis, J.5
-
3
-
-
0018166231
-
Quantitative studies of sympathetic ganglia and spinal cord intermedio-lateral gray columns in familial dysautonomia
-
Pearson J, Pytel BA (1978) Quantitative studies of sympathetic ganglia and spinal cord intermedio-lateral gray columns in familial dysautonomia. J Neurol Sci 39: 47-59.
-
(1978)
J Neurol Sci
, vol.39
, pp. 47-59
-
-
Pearson, J.1
Pytel, B.A.2
-
4
-
-
1442328913
-
Familial dysautonomia
-
Axelrod FB (2004) Familial dysautonomia. Muscle Nerve 29: 352-63.
-
(2004)
Muscle Nerve
, vol.29
, pp. 352-363
-
-
Axelrod, F.B.1
-
5
-
-
0035097484
-
Familial dysautonomia is caused by mutations of the IKAP gene
-
Anderson SL, Coli R, Daly IW, Kichula EA, Rork MJ, et al. (2001) Familial dysautonomia is caused by mutations of the IKAP gene. Am J Hum Genet 68: 753-8.
-
(2001)
Am J Hum Genet
, vol.68
, pp. 753-758
-
-
Anderson, S.L.1
Coli, R.2
Daly, I.W.3
Kichula, E.A.4
Rork, M.J.5
-
6
-
-
0035089807
-
Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia
-
Slaugenhaupt SA, Blumenfeld A, Gill SP, Leyne M, Mull J, et al. (2001) Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia. Am J Hum Genet 68: 598-605.
-
(2001)
Am J Hum Genet
, vol.68
, pp. 598-605
-
-
Slaugenhaupt, S.A.1
Blumenfeld, A.2
Gill, S.P.3
Leyne, M.4
Mull, J.5
-
7
-
-
0036644252
-
Familial dysautonomia: Detection of the IKBKAP IVS20(+6TRC) and R696P mutations and frequencies among Ashkenazi Jews
-
Dong J, Edelmann L, Bajwa AM, Kornreich R, Desnick RJ (2002) Familial dysautonomia: detection of the IKBKAP IVS20(+6TRC) and R696P mutations and frequencies among Ashkenazi Jews. Am J Med Genet 110: 253-7.
-
(2002)
Am J Med Genet
, vol.110
, pp. 253-257
-
-
Dong, J.1
Edelmann, L.2
Bajwa, A.M.3
Kornreich, R.4
Desnick, R.J.5
-
8
-
-
0037371609
-
Tissue-specific reduction in splicing efficiency of IKBKAP due to the major mutation associated with familial dysautonomia
-
Cuajungco MP, Leyne M, Mull J, Gill SP, Lu W, et al. (2003) Tissue-specific reduction in splicing efficiency of IKBKAP due to the major mutation associated with familial dysautonomia. Am J Hum Genet 72: 749-58.
-
(2003)
Am J Hum Genet
, vol.72
, pp. 749-758
-
-
Cuajungco, M.P.1
Leyne, M.2
Mull, J.3
Gill, S.P.4
Lu, W.5
-
9
-
-
0037169503
-
Purification and characterization of the human elongator complex
-
Hawkes NA, Otero G, Winkler GS, Marshall N, Dahmus ME, et al. (2002) Purification and characterization of the human elongator complex. J Biol Chem 277: 3047-52.
-
(2002)
J Biol Chem
, vol.277
, pp. 3047-3052
-
-
Hawkes, N.A.1
Otero, G.2
Winkler, G.S.3
Marshall, N.4
Dahmus, M.E.5
-
10
-
-
33745034833
-
Transcription impairment and cell migration defects in elongator-depleted cells: Implication for familial dysautonomia
-
Close P, Hawkes N, Cornez I, Creppe C, Lambert CA, et al. (2006) Transcription impairment and cell migration defects in elongator-depleted cells: implication for familial dysautonomia. Mol Cell 22: 521-31.
-
(2006)
Mol Cell
, vol.22
, pp. 521-531
-
-
Close, P.1
Hawkes, N.2
Cornez, I.3
Creppe, C.4
Lambert, C.A.5
-
11
-
-
59349089711
-
Elongator controls the migration and differentiation of cortical neurons through acetylation of alpha-tubulin
-
Creppe C, Malinouskaya L, Volvert ML, Gillard M, Close P, et al. (2009) Elongator controls the migration and differentiation of cortical neurons through acetylation of alpha-tubulin. Cell 136: 551-64.
-
(2009)
Cell
, vol.136
, pp. 551-564
-
-
Creppe, C.1
Malinouskaya, L.2
Volvert, M.L.3
Gillard, M.4
Close, P.5
-
12
-
-
76749123484
-
The Caenorhabditis elegans Elongator complex regulates neuronal alpha-tubulin acetylation
-
Solinger JA, Paolinelli R, Kloss H, Scorza FB, Marchesi S, et al. (2010) The Caenorhabditis elegans Elongator complex regulates neuronal alpha-tubulin acetylation. PLoS Genet 6: e1000820.
-
(2010)
PLoS Genet
, vol.6
-
-
Solinger, J.A.1
Paolinelli, R.2
Kloss, H.3
Scorza, F.B.4
Marchesi, S.5
-
13
-
-
68249089400
-
Defects in tRNA modification associated with neurological and developmental dysfunctions in Caenorhabditis elegans elongator mutants
-
Chen C, Tuck S, Bystrom AS (2009) Defects in tRNA modification associated with neurological and developmental dysfunctions in Caenorhabditis elegans elongator mutants. PLoS Genet 5: e1000561.
-
(2009)
PLoS Genet
, vol.5
-
-
Chen, C.1
Tuck, S.2
Bystrom, A.S.3
-
14
-
-
15444371415
-
An early step in wobble uridine tRNA modification requires the Elongator complex
-
Huang B, Johansson MJ, Bystrom AS (2005) An early step in wobble uridine tRNA modification requires the Elongator complex. RNA 11: 424-36.
-
(2005)
RNA
, vol.11
, pp. 424-436
-
-
Huang, B.1
Johansson, M.J.2
Bystrom, A.S.3
-
15
-
-
33749078546
-
Elevated levels of two tRNA species bypass the requirement for elongator complex in transcription and exocytosis
-
Esberg A, Huang B, Johansson MJ, Bystrom AS (2006) Elevated levels of two tRNA species bypass the requirement for elongator complex in transcription and exocytosis. Mol Cell 24: 139-48.
-
(2006)
Mol Cell
, vol.24
, pp. 139-148
-
-
Esberg, A.1
Huang, B.2
Johansson, M.J.3
Bystrom, A.S.4
-
16
-
-
15244355534
-
Elp1p, the yeast homolog of the FD disease syndrome protein, negatively regulates exocytosis independently of transcriptional elongation
-
Rahl PB, Chen CZ, Collins RN (2005) Elp1p, the yeast homolog of the FD disease syndrome protein, negatively regulates exocytosis independently of transcriptional elongation. Mol Cell 17: 841-53.
-
(2005)
Mol Cell
, vol.17
, pp. 841-853
-
-
Rahl, P.B.1
Chen, C.Z.2
Collins, R.N.3
-
17
-
-
75749142980
-
A role for the elongator complex in zygotic paternal genome demethylation
-
Okada Y, Yamagata K, Hong K, Wakayama T, Zhang Y (2010) A role for the elongator complex in zygotic paternal genome demethylation. Nature 463: 554-8.
-
(2010)
Nature
, vol.463
, pp. 554-558
-
-
Okada, Y.1
Yamagata, K.2
Hong, K.3
Wakayama, T.4
Zhang, Y.5
-
18
-
-
70349453559
-
Identification of an RNA-dependent RNA polymerase in Drosophila involved in RNAi and transposon suppression
-
Lipardi C, Paterson BM (2009) Identification of an RNA-dependent RNA polymerase in Drosophila involved in RNAi and transposon suppression. Proc Natl Acad Sci U S A 106: 15645-50.
-
(2009)
Proc Natl Acad Sci U S A
, vol.106
, pp. 15645-15650
-
-
Lipardi, C.1
Paterson, B.M.2
-
19
-
-
59249093238
-
Loss of mouse Ikbkap, a subunit of elongator, leads to transcriptional deficits and embryonic lethality that can be rescued by human IKBKAP
-
Chen YT, Hims MM, Shetty RS, Mull J, Liu L, et al. (2009) Loss of mouse Ikbkap, a subunit of elongator, leads to transcriptional deficits and embryonic lethality that can be rescued by human IKBKAP. Mol Cell Biol 29: 736-44.
-
(2009)
Mol Cell Biol
, vol.29
, pp. 736-744
-
-
Chen, Y.T.1
Hims, M.M.2
Shetty, R.S.3
Mull, J.4
Liu, L.5
-
20
-
-
34547454243
-
A humanized IKBKAP transgenic mouse models a tissue-specific human splicing defect
-
Hims MM, Shetty RS, Pickel J, Mull J, Leyne M, et al. (2007) A humanized IKBKAP transgenic mouse models a tissue-specific human splicing defect. Genomics 90: 389-96.
-
(2007)
Genomics
, vol.90
, pp. 389-396
-
-
Hims, M.M.1
Shetty, R.S.2
Pickel, J.3
Mull, J.4
Leyne, M.5
-
21
-
-
77949517646
-
Enriched population of PNS neurons derived from human embryonic stem cells as a platform for studying peripheral neuropathies
-
Valensi-Kurtz M, Lefler S, Cohen MA, Aharonowiz M, Cohen-Kupiec R, et al. (2010) Enriched population of PNS neurons derived from human embryonic stem cells as a platform for studying peripheral neuropathies. PLoS One 5: e9290.
-
(2010)
PLoS One
, vol.5
-
-
Valensi-Kurtz, M.1
Lefler, S.2
Cohen, M.A.3
Aharonowiz, M.4
Cohen-Kupiec, R.5
-
22
-
-
70349301819
-
Modelling pathogenesis and treatment of familial dysautonomia using patient-specific iPSCs
-
Lee G, Papapetrou EP, Kim H, Chambers SM, Tomishima MJ, et al. (2009) Modelling pathogenesis and treatment of familial dysautonomia using patient-specific iPSCs. Nature 461: 402-6.
-
(2009)
Nature
, vol.461
, pp. 402-406
-
-
Lee, G.1
Papapetrou, E.P.2
Kim, H.3
Chambers, S.M.4
Tomishima, M.J.5
-
23
-
-
70450285340
-
Technical challenges in using human induced pluripotent stem cells to model disease
-
Saha K, Jaenisch R (2009) Technical challenges in using human induced pluripotent stem cells to model disease. Cell Stem Cell 5: 584-95.
-
(2009)
Cell Stem Cell
, vol.5
, pp. 584-595
-
-
Saha, K.1
Jaenisch, R.2
-
24
-
-
77649162059
-
Direct conversion of fibroblasts to functional neurons by defined factors
-
Vierbuchen T, Ostermeier A, Pang ZP, Kokubu Y, Sudhof TC, et al. (2010) Direct conversion of fibroblasts to functional neurons by defined factors. Nature 463: 1035-41.
-
(2010)
Nature
, vol.463
, pp. 1035-1041
-
-
Vierbuchen, T.1
Ostermeier, A.2
Pang, Z.P.3
Kokubu, Y.4
Sudhof, T.C.5
-
25
-
-
77955449906
-
Epigenetic memory in induced pluripotent stem cells
-
Kim K, Doi A, Wen B, Ng K, Zhao R, et al. (2010) Epigenetic memory in induced pluripotent stem cells. Nature 467: 285-90.
-
(2010)
Nature
, vol.467
, pp. 285-290
-
-
Kim, K.1
Doi, A.2
Wen, B.3
Ng, K.4
Zhao, R.5
-
26
-
-
78650752402
-
Cell type of origin influences the molecular and functional properties of mouse induced pluripotent stem cells
-
Polo JM, Liu S, Figueroa ME, Kulalert W, Eminli S, et al. (2010) Cell type of origin influences the molecular and functional properties of mouse induced pluripotent stem cells. Nat Biotechnol 28: 848-55.
-
(2010)
Nat Biotechnol
, vol.28
, pp. 848-855
-
-
Polo, J.M.1
Liu, S.2
Figueroa, M.E.3
Kulalert, W.4
Eminli, S.5
-
27
-
-
77957325592
-
Persistent donor cell gene expression among human induced pluripotent stem cells contributes to differences with human embryonic stem cells
-
Ghosh Z, Wilson KD, Wu Y, Hu S, Quertermous T, et al. (2010) Persistent donor cell gene expression among human induced pluripotent stem cells contributes to differences with human embryonic stem cells. PLoS One 5: e8975.
-
(2010)
PLoS One
, vol.5
-
-
Ghosh, Z.1
Wilson, K.D.2
Wu, Y.3
Hu, S.4
Quertermous, T.5
-
28
-
-
0018404034
-
Neurogenesis and neuron regeneration in the olfactory system of mammals. I. Morphological aspects of differentiation and structural organization of the olfactory sensory neurons
-
Graziadei PP, Graziadei GA (1979) Neurogenesis and neuron regeneration in the olfactory system of mammals. I. Morphological aspects of differentiation and structural organization of the olfactory sensory neurons. J Neurocytol 8: 1-18.
-
(1979)
J Neurocytol
, vol.8
, pp. 1-18
-
-
Graziadei, P.P.1
Graziadei, G.A.2
-
29
-
-
21144432093
-
Multipotent stem cells from adult olfactory mucosa
-
Murrell W, Feron F, Wetzig A, Cameron N, Splatt K, et al. (2005) Multipotent stem cells from adult olfactory mucosa. Dev Dyn 233: 496-515.
-
(2005)
Dev Dyn
, vol.233
, pp. 496-515
-
-
Murrell, W.1
Feron, F.2
Wetzig, A.3
Cameron, N.4
Splatt, K.5
-
30
-
-
77954206033
-
The human nose harbors a niche of olfactory ectomesenchymal stem cells displaying neurogenic and osteogenic properties
-
Delorme B, Nivet E, Gaillard J, Haupl T, Ringe J, et al. (2010) The human nose harbors a niche of olfactory ectomesenchymal stem cells displaying neurogenic and osteogenic properties. Stem Cells Dev 19: 853-66.
-
(2010)
Stem Cells Dev
, vol.19
, pp. 853-866
-
-
Delorme, B.1
Nivet, E.2
Gaillard, J.3
Haupl, T.4
Ringe, J.5
-
31
-
-
0345072484
-
Altered adhesion, proliferation and death in neural cultures from adults with schizophrenia
-
Feron F, Perry C, Hirning MH, McGrath J, Mackay-Sim A (1999) Altered adhesion, proliferation and death in neural cultures from adults with schizophrenia. Schizophr Res 40: 211-8.
-
(1999)
Schizophr Res
, vol.40
, pp. 211-218
-
-
Feron, F.1
Perry, C.2
Hirning, M.H.3
McGrath, J.4
Mackay-Sim, A.5
-
32
-
-
33344472348
-
Cell cycle alterations in biopsied olfactory neuroepithelium in schizophrenia and bipolar I disorder using cell culture and gene expression analyses
-
McCurdy RD, Feron F, Perry C, Chant DC, McLean D, et al. (2006) Cell cycle alterations in biopsied olfactory neuroepithelium in schizophrenia and bipolar I disorder using cell culture and gene expression analyses. Schizophr Res 82: 163-73.
-
(2006)
Schizophr Res
, vol.82
, pp. 163-173
-
-
McCurdy, R.D.1
Feron, F.2
Perry, C.3
Chant, D.C.4
McLean, D.5
-
33
-
-
55049099234
-
Olfactory mucosa is a potential source for autologous stem cell therapy for Parkinson's disease
-
Murrell W, Wetzig A, Donnellan M, Feron F, Burne T, et al. (2008) Olfactory mucosa is a potential source for autologous stem cell therapy for Parkinson's disease. Stem Cells 26: 2183-92.
-
(2008)
Stem Cells
, vol.26
, pp. 2183-2192
-
-
Murrell, W.1
Wetzig, A.2
Donnellan, M.3
Feron, F.4
Burne, T.5
-
34
-
-
42549137421
-
IKAP localizes to membrane ruffles with filamin A and regulates actin cytoskeleton organization and cell migration
-
Johansen LD, Naumanen T, Knudsen A, Westerlund N, Gromova I, et al. (2008) IKAP localizes to membrane ruffles with filamin A and regulates actin cytoskeleton organization and cell migration. J Cell Sci 121: 854-64.
-
(2008)
J Cell Sci
, vol.121
, pp. 854-864
-
-
Johansen, L.D.1
Naumanen, T.2
Knudsen, A.3
Westerlund, N.4
Gromova, I.5
-
35
-
-
1242353105
-
Rescue of a human mRNA splicing defect by the plant cytokinin kinetin
-
Slaugenhaupt SA, Mull J, Leyne M, Cuajungco MP, Gill SP, et al. (2004) Rescue of a human mRNA splicing defect by the plant cytokinin kinetin. Hum Mol Genet 13: 429-36.
-
(2004)
Hum Mol Genet
, vol.13
, pp. 429-436
-
-
Slaugenhaupt, S.A.1
Mull, J.2
Leyne, M.3
Cuajungco, M.P.4
Gill, S.P.5
-
36
-
-
33846574156
-
Therapeutic potential and mechanism of kinetin as a treatment for the human splicing disease familial dysautonomia
-
Hims MM, Ibrahim EC, Leyne M, Mull J, Liu L, et al. (2007) Therapeutic potential and mechanism of kinetin as a treatment for the human splicing disease familial dysautonomia. J Mol Med 85: 149-61.
-
(2007)
J Mol Med
, vol.85
, pp. 149-161
-
-
Hims, M.M.1
Ibrahim, E.C.2
Leyne, M.3
Mull, J.4
Liu, L.5
-
37
-
-
61949408123
-
Kinetin in familial dysautonomia carriers: Implications for a new therapeutic strategy targeting mRNA splicing
-
Gold-von Simson G, Goldberg JD, Rolnitzky LM, Mull J, Leyne M, et al. (2009) Kinetin in familial dysautonomia carriers: implications for a new therapeutic strategy targeting mRNA splicing. Pediatr Res 65: 341-6.
-
(2009)
Pediatr Res
, vol.65
, pp. 341-346
-
-
von simson, G.G.1
Goldberg, J.D.2
Rolnitzky, L.M.3
Mull, J.4
Leyne, M.5
-
38
-
-
55949105874
-
Gene expression profiling of human mesenchymal stem cells for identification of novel markers in early- and late-stage cell culture
-
Tanabe S, Sato Y, Suzuki T, Suzuki K, Nagao T, et al. (2008) Gene expression profiling of human mesenchymal stem cells for identification of novel markers in early- and late-stage cell culture. J Biochem 144: 399-408.
-
(2008)
J Biochem
, vol.144
, pp. 399-408
-
-
Tanabe, S.1
Sato, Y.2
Suzuki, T.3
Suzuki, K.4
Nagao, T.5
-
39
-
-
47249166372
-
Replicative senescence of mesenchymal stem cells: A continuous and organized process
-
Wagner W, Horn P, Castoldi M, Diehlmann A, Bork S, et al. (2008) Replicative senescence of mesenchymal stem cells: a continuous and organized process. PLoS One 3: e2213.
-
(2008)
PLoS One
, vol.3
-
-
Wagner, W.1
Horn, P.2
Castoldi, M.3
Diehlmann, A.4
Bork, S.5
-
40
-
-
34548457240
-
IKAP/hELP1 deficiency in the cerebrum of familial dysautonomia patients results in down regulation of genes involved in oligodendrocyte differentiation and in myelination
-
Cheishvili D, Maayan C, Smith Y, Ast G, Razin A (2007) IKAP/hELP1 deficiency in the cerebrum of familial dysautonomia patients results in down regulation of genes involved in oligodendrocyte differentiation and in myelination. Hum Mol Genet 16: 2097-104.
-
(2007)
Hum Mol Genet
, vol.16
, pp. 2097-2104
-
-
Cheishvili, D.1
Maayan, C.2
Smith, Y.3
Ast, G.4
Razin, A.5
-
41
-
-
33645016905
-
Induction of neuronal differentiation of adult human olfactory neuroepithelial-derived progenitors
-
Zhang X, Klueber KM, Guo Z, Cai J, Lu C, et al. (2006) Induction of neuronal differentiation of adult human olfactory neuroepithelial-derived progenitors. Brain Res 1073-1074: 109-19.
-
(2006)
Brain Res
, pp. 1073-1074
-
-
Zhang, X.1
Klueber, K.M.2
Guo, Z.3
Cai, J.4
Lu, C.5
-
42
-
-
0026436004
-
Continuous culture of neuronal cells from adult human olfactory epithelium
-
Wolozin B, Sunderland T, Zheng BB, Resau J, Dufy B, et al. (1992) Continuous culture of neuronal cells from adult human olfactory epithelium. J Mol Neurosci 3: 137-46.
-
(1992)
J Mol Neurosci
, vol.3
, pp. 137-146
-
-
Wolozin, B.1
Sunderland, T.2
Zheng, B.B.3
Resau, J.4
Dufy, B.5
-
43
-
-
0035951603
-
Adult human olfactory stem cells
-
Roisen FJ, Klueber KM, Lu CL, Hatcher LM, Dozier A, et al. (2001) Adult human olfactory stem cells. Brain Res 890: 11-22.
-
(2001)
Brain Res
, vol.890
, pp. 11-22
-
-
Roisen, F.J.1
Klueber, K.M.2
Lu, C.L.3
Hatcher, L.M.4
Dozier, A.5
-
44
-
-
1542617770
-
Adult human olfactory neural progenitors cultured in defined medium
-
Zhang X, Klueber KM, Guo Z, Lu C, Roisen FJ (2004) Adult human olfactory neural progenitors cultured in defined medium. Exp Neurol 186: 112-23.
-
(2004)
Exp Neurol
, vol.186
, pp. 112-123
-
-
Zhang, X.1
Klueber, K.M.2
Guo, Z.3
Lu, C.4
Roisen, F.J.5
-
45
-
-
15544372896
-
Endoscopic biopsy of human olfactory epithelium as a source of progenitor cells
-
Winstead W, Marshall CT, Lu CL, Klueber KM, Roisen FJ (2005) Endoscopic biopsy of human olfactory epithelium as a source of progenitor cells. Am J Rhinol 19: 83-90.
-
(2005)
Am J Rhinol
, vol.19
, pp. 83-90
-
-
Winstead, W.1
Marshall, C.T.2
Lu, C.L.3
Klueber, K.M.4
Roisen, F.J.5
-
47
-
-
33645226429
-
Clonal analysis of adult human olfactory neurosphere forming cells
-
Othman M, Lu C, Klueber K, Winstead W, Roisen F (2005) Clonal analysis of adult human olfactory neurosphere forming cells. Biotech Histochem 80: 189-200.
-
(2005)
Biotech Histochem
, vol.80
, pp. 189-200
-
-
Othman, M.1
Lu, C.2
Klueber, K.3
Winstead, W.4
Roisen, F.5
-
48
-
-
34547838641
-
The abundance of RNPS1, a protein component of the exon junction complex, can determine the variability in efficiency of the Nonsense Mediated Decay pathway
-
Viegas MH, Gehring NH, Breit S, Hentze MW, Kulozik AE (2007) The abundance of RNPS1, a protein component of the exon junction complex, can determine the variability in efficiency of the Nonsense Mediated Decay pathway. Nucleic Acids Res 35: 4542-4551.
-
(2007)
Nucleic Acids Res
, vol.35
, pp. 4542-4551
-
-
Viegas, M.H.1
Gehring, N.H.2
Breit, S.3
Hentze, M.W.4
Kulozik, A.E.5
-
49
-
-
0037320770
-
Tissue-specific RNA surveillance? Nonsense-mediated mRNA decay causes collagen X haploinsuffi-ciency in Schmid metaphyseal chondrodysplasia cartilage
-
Bateman JF, Freddi S, Nattrass G, Savarirayan R (2003) Tissue-specific RNA surveillance? Nonsense-mediated mRNA decay causes collagen X haploinsuffi-ciency in Schmid metaphyseal chondrodysplasia cartilage. Hum Mol Genet 12: 217-25.
-
(2003)
Hum Mol Genet
, vol.12
, pp. 217-225
-
-
Bateman, J.F.1
Freddi, S.2
Nattrass, G.3
Savarirayan, R.4
-
50
-
-
33748276752
-
A homozygous frameshift mutation in the ESCO2 gene: Evidence of intertissue and interindividual variation in Nmd efficiency
-
Resta N, Susca FC, Di Giacomo MC, Stella A, Bukvic N, et al. (2006) A homozygous frameshift mutation in the ESCO2 gene: evidence of intertissue and interindividual variation in Nmd efficiency. J Cell Physiol 209: 67-73.
-
(2006)
J Cell Physiol
, vol.209
, pp. 67-73
-
-
Resta, N.1
Susca, F.C.2
Di Giacomo, M.C.3
Stella, A.4
Bukvic, N.5
-
51
-
-
0037200023
-
A novel specific role for I kappa B kinase complex-associated protein in cytosolic stress signaling
-
Holmberg C, Katz S, Lerdrup M, Herdegen T, Jaattela M, et al. (2002) A novel specific role for I kappa B kinase complex-associated protein in cytosolic stress signaling. J Biol Chem 277: 31918-28.
-
(2002)
J Biol Chem
, vol.277
, pp. 31918-31928
-
-
Holmberg, C.1
Katz, S.2
Lerdrup, M.3
Herdegen, T.4
Jaattela, M.5
-
52
-
-
0037022226
-
Human Elongator facilitates RNA polymerase II transcription through chromatin
-
Kim JH, Lane WS, Reinberg D (2002) Human Elongator facilitates RNA polymerase II transcription through chromatin. Proc Natl Acad Sci USA 99: 1241-6.
-
(2002)
Proc Natl Acad Sci USA
, vol.99
, pp. 1241-1246
-
-
Kim, J.H.1
Lane, W.S.2
Reinberg, D.3
-
53
-
-
43049125074
-
Deregulated expression of pro-survival and pro-apoptotic p53-dependent genes upon Elongator deficiency in colon cancer cells
-
Cornez I, Creppe C, Gillard M, Hennuy B, Chapelle JP, et al. (2008) Deregulated expression of pro-survival and pro-apoptotic p53-dependent genes upon Elongator deficiency in colon cancer cells. Biochem Pharmacol 75: 2122-34.
-
(2008)
Biochem Pharmacol
, vol.75
, pp. 2122-2134
-
-
Cornez, I.1
Creppe, C.2
Gillard, M.3
Hennuy, B.4
Chapelle, J.P.5
-
54
-
-
73649085521
-
TMEPAI, a transmembrane TGF-beta-inducible protein, sequesters Smad proteins from active participation in TGF-beta signaling
-
Watanabe Y, Itoh S, Goto T, Ohnishi E, Inamitsu M, et al. (2010) TMEPAI, a transmembrane TGF-beta-inducible protein, sequesters Smad proteins from active participation in TGF-beta signaling. Mol Cell 37: 123-34.
-
(2010)
Mol Cell
, vol.37
, pp. 123-134
-
-
Watanabe, Y.1
Itoh, S.2
Goto, T.3
Ohnishi, E.4
Inamitsu, M.5
-
55
-
-
33644878582
-
ASD: A bioinformatics resource on alternative splicing
-
Stamm S, Riethoven JJ, Le Texier V, Gopalakrishnan C, Kumanduri V, et al. (2006) ASD: a bioinformatics resource on alternative splicing. Nucleic Acids Res 34: D46-55.
-
(2006)
Nucleic Acids Res
, vol.34
-
-
Stamm, S.1
Riethoven, J.J.2
Le Texier, V.3
Gopalakrishnan, C.4
Kumanduri, V.5
-
56
-
-
0032541670
-
IKAP is a scaffold protein of the IkappaB kinase complex
-
Cohen L, Henzel WJ, Baeuerle PA (1998) IKAP is a scaffold protein of the IkappaB kinase complex. Nature 395: 292-6.
-
(1998)
Nature
, vol.395
, pp. 292-296
-
-
Cohen, L.1
Henzel, W.J.2
Baeuerle, P.A.3
-
57
-
-
77951623402
-
Modulation of aberrant NF1 pre-mRNA splicing by kinetin treatment
-
Pros E, Fernandez-Rodriguez J, Benito L, Ravella A, Capella G, et al. (2009) Modulation of aberrant NF1 pre-mRNA splicing by kinetin treatment. Eur J Hum Genet 18: 614-7.
-
(2009)
Eur J Hum Genet
, vol.18
, pp. 614-617
-
-
Pros, E.1
Fernandez-Rodriguez, J.2
Benito, L.3
Ravella, A.4
Capella, G.5
-
58
-
-
39549123412
-
Spontaneous neural differentiation of stem cells in culture of human olfactory epithelium
-
Viktorov IV, Savchenko EA, Chekhonin VP (2007) Spontaneous neural differentiation of stem cells in culture of human olfactory epithelium. Bull Exp Biol Med 144: 596-601.
-
(2007)
Bull Exp Biol Med
, vol.144
, pp. 596-601
-
-
Viktorov, I.V.1
Savchenko, E.A.2
Chekhonin, V.P.3
-
59
-
-
1942469356
-
Comparative analysis detects dependencies among the 59 splice-site positions
-
Carmel I, Tal S, Vig I, Ast G (2004) Comparative analysis detects dependencies among the 59 splice-site positions. RNA 10: 828-40.
-
(2004)
RNA
, vol.10
, pp. 828-840
-
-
Carmel, I.1
Tal, S.2
Vig, I.3
Ast, G.4
-
60
-
-
33846027506
-
Weak definition of IKBKAP exon 20 leads to aberrant splicing in familial dysautonomia
-
Ibrahim EC, Hims MM, Shomron N, Burge CB, Slaugenhaupt SA, et al. (2007) Weak definition of IKBKAP exon 20 leads to aberrant splicing in familial dysautonomia. Hum Mutat 28: 41-53.
-
(2007)
Hum Mutat
, vol.28
, pp. 41-53
-
-
Ibrahim, E.C.1
Hims, M.M.2
Shomron, N.3
Burge, C.B.4
Slaugenhaupt, S.A.5
-
61
-
-
23044431574
-
Nova regulates brain-specific splicing to shape the synapse
-
Ule J, Ule A, Spencer J, Williams A, Hu JS, et al. (2005) Nova regulates brain-specific splicing to shape the synapse. Nat Genet 37: 844-52.
-
(2005)
Nat Genet
, vol.37
, pp. 844-852
-
-
Ule, J.1
Ule, A.2
Spencer, J.3
Williams, A.4
Hu, J.S.5
-
62
-
-
9144271651
-
Evaluation of candidate control genes for diagnosis and residual disease detection in leukemic patients using 'real-time' quantitative reverse-transcriptase polymerase chain reaction (RQ-PCR) - a Europe against cancer program
-
Beillard E, Pallisgaard N, van der Velden VH, Bi W, Dee R, et al. (2003) Evaluation of candidate control genes for diagnosis and residual disease detection in leukemic patients using 'real-time' quantitative reverse-transcriptase polymerase chain reaction (RQ-PCR) - a Europe against cancer program. Leukemia 17: 2474-86.
-
(2003)
Leukemia
, vol.17
, pp. 2474-2486
-
-
Beillard, E.1
Pallisgaard, N.2
van der Velden, V.H.3
Bi, W.4
Dee, R.5
-
63
-
-
0035710746
-
Analysis of relative gene expression data using real-time quantitative PCR and the 2(2Delta Delta C(T)) Method
-
Livak KJ, Schmittgen TD (2001) Analysis of relative gene expression data using real-time quantitative PCR and the 2(2Delta Delta C(T)) Method. Methods 25: 402-8.
-
(2001)
Methods
, vol.25
, pp. 402-408
-
-
Livak, K.J.1
Schmittgen, T.D.2
-
64
-
-
33644834348
-
Gene expression profiling identifies molecular subgroups among nodal peripheral T-cell lymphomas
-
Ballester B, Ramuz O, Gisselbrecht C, Doucet G, Loi L, et al. (2006) Gene expression profiling identifies molecular subgroups among nodal peripheral T-cell lymphomas. Oncogene 25: 1560-70.
-
(2006)
Oncogene
, vol.25
, pp. 1560-1570
-
-
Ballester, B.1
Ramuz, O.2
Gisselbrecht, C.3
Doucet, G.4
Loi, L.5
-
65
-
-
33645295228
-
The chemosensitivity to therapy of childhood early B acute lymphoblastic leukemia could be determined by the combined expression of CD34, SPI-B and BCR genes
-
Talby L, Chambost H, Roubaud MC, N'Guyen C, Milili M, et al. (2006) The chemosensitivity to therapy of childhood early B acute lymphoblastic leukemia could be determined by the combined expression of CD34, SPI-B and BCR genes. Leuk Res 30: 665-76.
-
(2006)
Leuk Res
, vol.30
, pp. 665-676
-
-
Talby, L.1
Chambost, H.2
Roubaud, M.C.3
N'guyen, C.4
Milili, M.5
-
66
-
-
8444234664
-
Feature extraction and signal processing for nylon DNA microarrays
-
Lopez F, Rougemont J, Loriod B, Bourgeois A, Loi L, et al. (2004) Feature extraction and signal processing for nylon DNA microarrays. BMC Genomics 5: 38.
-
(2004)
BMC Genomics
, vol.5
, pp. 38
-
-
Lopez, F.1
Rougemont, J.2
Loriod, B.3
Bourgeois, A.4
Loi, L.5
-
67
-
-
28744458859
-
Bioconductor: Open software development for computational biology and bioinformatics
-
Gentleman RC, Carey VJ, Bates DM, Bolstad B, Dettling M, et al. (2004) Bioconductor: open software development for computational biology and bioinformatics. Genome Biol 5: R80.
-
(2004)
Genome Biol
, vol.5
-
-
Gentleman, R.C.1
Carey, V.J.2
Bates, D.M.3
Bolstad, B.4
Dettling, M.5
|