-
1
-
-
56049122457
-
Clinical and molecular progress in hereditary paraganglioma
-
Baysal, B.E. (2008) Clinical and molecular progress in hereditary paraganglioma. J. Med. Genet., 45, 689-694.
-
(2008)
J. Med. Genet.
, vol.45
, pp. 689-694
-
-
Baysal, B.E.1
-
2
-
-
69549088424
-
SDH5, a gene required for flavination of succinate dehydrogenase, is mutated in paraganglioma
-
Hao, H.X., Khalimonchuk, O., Schraders, M., Dephoure, N., Bayley, J.P., Kunst, H., Devilee, P., Cremers, C.W., Schiffman, J.D., Bentz, B.G. et al. (2009) SDH5, a gene required for flavination of succinate dehydrogenase, is mutated in paraganglioma. Science, 325, 1139-1142.
-
(2009)
Science
, vol.325
, pp. 1139-1142
-
-
Hao, H.X.1
Khalimonchuk, O.2
Schraders, M.3
Dephoure, N.4
Bayley, J.P.5
Kunst, H.6
Devilee, P.7
Cremers, C.W.8
Schiffman, J.D.9
Bentz, B.G.10
-
3
-
-
2942561954
-
Somatic loss of maternal chromosome 11 causes parent-of-origin-dependent inheritance in SDHD-linked paraganglioma and phaeochromocytoma families
-
Hensen, E.F., Jordanova, E.S., van Minderhout, I.J., Hogendoorn, P.C., Taschner, P.E., van der Mey, A.G., Devilee, P. and Cornelisse, C.J. (2004) Somatic loss of maternal chromosome 11 causes parent-of-origin-dependent inheritance in SDHD-linked paraganglioma and phaeochromocytoma families. Oncogene, 23, 4076-4083.
-
(2004)
Oncogene
, vol.23
, pp. 4076-4083
-
-
Hensen, E.F.1
Jordanova, E.S.2
van Minderhout, I.J.3
Hogendoorn, P.C.4
Taschner, P.E.5
van der Mey, A.G.6
Devilee, P.7
Cornelisse, C.J.8
-
4
-
-
0024404822
-
Genomic imprinting in hereditary glomus tumours: evidence for new genetic theory
-
van der Mey, A.G., Maaswinkel-Mooy, P.D., Cornelisse, C.J., Schmidt, P.H. and van de Kamp, J.J. (1989) Genomic imprinting in hereditary glomus tumours: evidence for new genetic theory. Lancet, 2, 1291-1294.
-
(1989)
Lancet
, vol.2
, pp. 1291-1294
-
-
van der Mey, A.G.1
Maaswinkel-Mooy, P.D.2
Cornelisse, C.J.3
Schmidt, P.H.4
van de Kamp, J.J.5
-
5
-
-
0028809123
-
Fine mapping of a putatively imprinted gene for familial non-chromaffin paragangliomas to chromosome 11q13.1: evidence for genetic heterogeneity
-
Mariman, E.C., van Beersum, S.E., Cremers, C.W., Struycken, P.M. and Ropers, H.H. (1995) Fine mapping of a putatively imprinted gene for familial non-chromaffin paragangliomas to chromosome 11q13.1: evidence for genetic heterogeneity. Hum. Genet., 95, 56-62.
-
(1995)
Hum. Genet.
, vol.95
, pp. 56-62
-
-
Mariman, E.C.1
van Beersum, S.E.2
Cremers, C.W.3
Struycken, P.M.4
Ropers, H.H.5
-
6
-
-
0034602950
-
Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma
-
Baysal, B.E., Ferrell, R.E., Willett-Brozick, J.E., Lawrence, E.C., Myssiorek, D., Bosch, A., van der Mey, A., Taschner, P.E., Rubinstein, W.S., Myers, E.N. et al. (2000) Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma. Science, 287, 848-851.
-
(2000)
Science
, vol.287
, pp. 848-851
-
-
Baysal, B.E.1
Ferrell, R.E.2
Willett-Brozick, J.E.3
Lawrence, E.C.4
Myssiorek, D.5
Bosch, A.6
van der Mey, A.7
Taschner, P.E.8
Rubinstein, W.S.9
Myers, E.N.10
-
7
-
-
43249085940
-
Maternal transmission of symptomatic disease with SDHD mutation: fact or fiction? J
-
Neumann, H.P. and Erlic, Z. (2008) Maternal transmission of symptomatic disease with SDHD mutation: fact or fiction? J. Clin. Endocrinol. Metab., 93, 1573-1575.
-
(2008)
Clin. Endocrinol. Metab.
, vol.93
, pp. 1573-1575
-
-
Neumann, H.P.1
Erlic, Z.2
-
8
-
-
77955299096
-
High-resolution analysis of parent-of-origin allelic expression in the mouse brain
-
Gregg, C., Zhang, J., Weissbourd, B., Luo, S., Schroth, G.P., Haig, D. and Dulac, C. (2010) High-resolution analysis of parent-of-origin allelic expression in the mouse brain. Science, 329, 643-648.
-
(2010)
Science
, vol.329
, pp. 643-648
-
-
Gregg, C.1
Zhang, J.2
Weissbourd, B.3
Luo, S.4
Schroth, G.P.5
Haig, D.6
Dulac, C.7
-
9
-
-
10044296222
-
The mitochondrial SDHD gene is required for early embryogenesis, and its partial deficiency results in persistent carotid body glomus cell activation with full responsiveness to hypoxia
-
Piruat, J.I., Pintado, C.O., Ortega-Saenz, P., Roche, M. and Lopez-Barneo, J. (2004) The mitochondrial SDHD gene is required for early embryogenesis, and its partial deficiency results in persistent carotid body glomus cell activation with full responsiveness to hypoxia. Mol. Cell Biol., 24, 10933-10940.
-
(2004)
Mol. Cell Biol.
, vol.24
, pp. 10933-10940
-
-
Piruat, J.I.1
Pintado, C.O.2
Ortega-Saenz, P.3
Roche, M.4
Lopez-Barneo, J.5
-
10
-
-
71049167689
-
Sdhd and SDHD/H19 knockout mice do not develop paraganglioma or pheochromocytoma
-
Bayley, J.P., van Minderhout, I., Hogendoorn, P.C., Cornelisse, C.J., van der Wal, A., Prins, F.A., Teppema, L., Dahan, A., Devilee, P. and Taschner, P.E. (2009) Sdhd and SDHD/H19 knockout mice do not develop paraganglioma or pheochromocytoma. PLoS ONE, 4, e7987.
-
(2009)
PLoS ONE
, vol.4
-
-
Bayley, J.P.1
van Minderhout, I.2
Hogendoorn, P.C.3
Cornelisse, C.J.4
van der Wal, A.5
Prins, F.A.6
Teppema, L.7
Dahan, A.8
Devilee, P.9
Taschner, P.E.10
-
11
-
-
77951765345
-
Subtle variations in pten dose determine cancer susceptibility
-
Alimonti, A., Carracedo, A., Clohessy, J.G., Trotman, L.C., Nardella, C., Egia, A., Salmena, L., Sampieri, K., Haveman, W.J., Brogi, E. et al. (2010) Subtle variations in pten dose determine cancer susceptibility. Nat. Genet., 42, 454-458.
-
(2010)
Nat. Genet.
, vol.42
, pp. 454-458
-
-
Alimonti, A.1
Carracedo, A.2
Clohessy, J.G.3
Trotman, L.C.4
Nardella, C.5
Egia, A.6
Salmena, L.7
Sampieri, K.8
Haveman, W.J.9
Brogi, E.10
-
12
-
-
39049093762
-
Regulation of imprinting in clusters: noncoding RNAs versus insulators
-
Wan, L.B. and Bartolomei, M.S. (2008) Regulation of imprinting in clusters: noncoding RNAs versus insulators. Adv. Genet., 61, 207-223.
-
(2008)
Adv. Genet.
, vol.61
, pp. 207-223
-
-
Wan, L.B.1
Bartolomei, M.S.2
-
13
-
-
0142084743
-
Scanning human gene deserts for long-range enhancers
-
Nobrega, M.A., Ovcharenko, I., Afzal, V. and Rubin, E.M. (2003) Scanning human gene deserts for long-range enhancers. Science, 302, 413.
-
(2003)
Science
, vol.302
, pp. 413
-
-
Nobrega, M.A.1
Ovcharenko, I.2
Afzal, V.3
Rubin, E.M.4
-
14
-
-
77954954652
-
Genome-wide analysis of ETS-family DNA-binding in vitro and in vivo
-
Wei, G.H., Badis, G., Berger, M.F., Kivioja, T., Palin, K., Enge, M., Bonke, M., Jolma, A., Varjosalo, M., Gehrke, A.R. et al. (2010) Genome-wide analysis of ETS-family DNA-binding in vitro and in vivo. EMBO J., 29, 2147-2160.
-
(2010)
EMBO J
, vol.29
, pp. 2147-2160
-
-
Wei, G.H.1
Badis, G.2
Berger, M.F.3
Kivioja, T.4
Palin, K.5
Enge, M.6
Bonke, M.7
Jolma, A.8
Varjosalo, M.9
Gehrke, A.R.10
-
15
-
-
0037036115
-
Nuclear activators and coactivators in mammalian mitochondrial biogenesis
-
Scarpulla, R.C. (2002) Nuclear activators and coactivators in mammalian mitochondrial biogenesis. Biochim. Biophys. Acta, 1576, 1-14.
-
(2002)
Biochim. Biophys. Acta
, vol.1576
, pp. 1-14
-
-
Scarpulla, R.C.1
-
16
-
-
70349096826
-
Nutrition controls mitochondrial biogenesis in the drosophila adipose tissue through delg and cyclin D/Cdk4
-
Baltzer, C., Tiefenbock, S.K., Marti, M. and Frei, C. (2009) Nutrition controls mitochondrial biogenesis in the drosophila adipose tissue through delg and cyclin D/Cdk4. PLoS ONE, 4, e6935.
-
(2009)
PLoS ONE
, vol.4
-
-
Baltzer, C.1
Tiefenbock, S.K.2
Marti, M.3
Frei, C.4
-
17
-
-
50849090969
-
Genome-wide analysis of transcription factor binding sites based on ChIP-seq data
-
Valouev, A., Johnson, D.S., Sundquist, A., Medina, C., Anton, E., Batzoglou, S., Myers, R.M. and Sidow, A. (2008) Genome-wide analysis of transcription factor binding sites based on ChIP-seq data. Nat. Methods, 5, 829-834.
-
(2008)
Nat. Methods
, vol.5
, pp. 829-834
-
-
Valouev, A.1
Johnson, D.S.2
Sundquist, A.3
Medina, C.4
Anton, E.5
Batzoglou, S.6
Myers, R.M.7
Sidow, A.8
-
18
-
-
0042692850
-
High concentrations of long interspersed nuclear element sequence distinguish monoallelically expressed genes
-
Allen, E., Horvath, S., Tong, F., Kraft, P., Spiteri, E., Riggs, A.D. and Marahrens, Y. (2003) High concentrations of long interspersed nuclear element sequence distinguish monoallelically expressed genes. Proc. Natl Acad. Sci. USA, 100, 9940-9945.
-
(2003)
Proc. Natl Acad. Sci. USA
, vol.100
, pp. 9940-9945
-
-
Allen, E.1
Horvath, S.2
Tong, F.3
Kraft, P.4
Spiteri, E.5
Riggs, A.D.6
Marahrens, Y.7
-
19
-
-
55549123549
-
Overlapping euchromatin/heterochromatin-associated marks are enriched in imprinted gene regions and predict allele-specific modification
-
Wen, B., Wu, H., Bjornsson, H., Green, R.D., Irizarry, R. and Feinberg, A.P. (2008) Overlapping euchromatin/heterochromatin-associated marks are enriched in imprinted gene regions and predict allele-specific modification. Genome Res., 18, 1806-1813.
-
(2008)
Genome Res
, vol.18
, pp. 1806-1813
-
-
Wen, B.1
Wu, H.2
Bjornsson, H.3
Green, R.D.4
Irizarry, R.5
Feinberg, A.P.6
-
20
-
-
0034713275
-
CTCF mediates methylation-sensitive enhancer-blocking activity at the H19/Igf2 locus
-
Hark, A.T., Schoenherr, C.J., Katz, D.J., Ingram, R.S., Levorse, J.M. and Tilghman, S.M. (2000) CTCF mediates methylation-sensitive enhancer-blocking activity at the H19/Igf2 locus. Nature, 405, 486-489.
-
(2000)
Nature
, vol.405
, pp. 486-489
-
-
Hark, A.T.1
Schoenherr, C.J.2
Katz, D.J.3
Ingram, R.S.4
Levorse, J.M.5
Tilghman, S.M.6
-
21
-
-
0034713375
-
Methylation of a CTCF-dependent boundary controls imprinted expression of the Igf2 gene
-
Bell, A.C. and Felsenfeld, G. (2000) Methylation of a CTCF-dependent boundary controls imprinted expression of the Igf2 gene. Nature, 405, 482-485.
-
(2000)
Nature
, vol.405
, pp. 482-485
-
-
Bell, A.C.1
Felsenfeld, G.2
-
22
-
-
33947201809
-
Analysis of the vertebrate insulator protein CTCF-binding sites in the human genome
-
Kim, T.H., Abdullaev, Z.K., Smith, A.D., Ching, K.A., Loukinov, D.I., Green, R.D., Zhang, M.Q., Lobanenkov, V.V. and Ren, B. (2007) Analysis of the vertebrate insulator protein CTCF-binding sites in the human genome. Cell, 128, 1231-1245.
-
(2007)
Cell
, vol.128
, pp. 1231-1245
-
-
Kim, T.H.1
Abdullaev, Z.K.2
Smith, A.D.3
Ching, K.A.4
Loukinov, D.I.5
Green, R.D.6
Zhang, M.Q.7
Lobanenkov, V.V.8
Ren, B.9
-
23
-
-
39149121436
-
Cohesin mediates transcriptional insulation by CCCTC-binding factor
-
Wendt, K.S., Yoshida, K., Itoh, T., Bando, M., Koch, B., Schirghuber, E., Tsutsumi, S., Nagae, G., Ishihara, K., Mishiro, T. et al. (2008) Cohesin mediates transcriptional insulation by CCCTC-binding factor. Nature, 451, 796-801.
-
(2008)
Nature
, vol.451
, pp. 796-801
-
-
Wendt, K.S.1
Yoshida, K.2
Itoh, T.3
Bando, M.4
Koch, B.5
Schirghuber, E.6
Tsutsumi, S.7
Nagae, G.8
Ishihara, K.9
Mishiro, T.10
-
24
-
-
70350231629
-
Evolution of genomic imprinting: insights from marsupials and monotremes
-
Renfree, M.B., Hore, T.A., Shaw, G., Graves, J.A. and Pask, A.J. (2009) Evolution of genomic imprinting: insights from marsupials and monotremes. Annu. Rev. Genomics Hum. Genet., 10, 241-262.
-
(2009)
Annu. Rev. Genomics Hum. Genet.
, vol.10
, pp. 241-262
-
-
Renfree, M.B.1
Hore, T.A.2
Shaw, G.3
Graves, J.A.4
Pask, A.J.5
-
25
-
-
62249133709
-
Chromatin signature reveals over a thousand highly conserved large non-coding RNAs in mammals
-
Guttman, M., Amit, I., Garber, M., French, C., Lin, M.F., Feldser, D., Huarte, M., Zuk, O., Carey, B.W., Cassady, J.P. et al. (2009) Chromatin signature reveals over a thousand highly conserved large non-coding RNAs in mammals. Nature, 458, 223-227.
-
(2009)
Nature
, vol.458
, pp. 223-227
-
-
Guttman, M.1
Amit, I.2
Garber, M.3
French, C.4
Lin, M.F.5
Feldser, D.6
Huarte, M.7
Zuk, O.8
Carey, B.W.9
Cassady, J.P.10
-
26
-
-
0035777024
-
Genome organization, function, and imprinting in Prader-Willi and Angelman syndromes
-
Nicholls, R.D. and Knepper, J.L. (2001) Genome organization, function, and imprinting in Prader-Willi and Angelman syndromes. Annu. Rev. Genomics Hum. Genet., 2, 153-175.
-
(2001)
Annu. Rev. Genomics Hum. Genet.
, vol.2
, pp. 153-175
-
-
Nicholls, R.D.1
Knepper, J.L.2
-
27
-
-
77957338939
-
Genomic imprinting syndromes and cancer
-
Lim, D.H. and Maher, E.R. (2010) Genomic imprinting syndromes and cancer. Adv. Genet., 70, 145-175.
-
(2010)
Adv. Genet.
, vol.70
, pp. 145-175
-
-
Lim, D.H.1
Maher, E.R.2
-
28
-
-
79956324593
-
Conserved, developmentally regulated mechanism couples chromosomal looping and heterochromatin barrier activity at the homeobox gene A locus
-
Kim, Y.J., Cecchini, K.R. and Kim, T.H. (2011) Conserved, developmentally regulated mechanism couples chromosomal looping and heterochromatin barrier activity at the homeobox gene A locus. Proc. Natl Acad. Sci. USA, 108, 7391-7396.
-
(2011)
Proc. Natl Acad. Sci. USA
, vol.108
, pp. 7391-7396
-
-
Kim, Y.J.1
Cecchini, K.R.2
Kim, T.H.3
-
29
-
-
28544446058
-
Mitochondrial tumour suppressors: a genetic and biochemical update
-
Gottlieb, E. and Tomlinson, I.P. (2005) Mitochondrial tumour suppressors: a genetic and biochemical update. Nat. Rev. Cancer, 5, 857-866.
-
(2005)
Nat. Rev. Cancer
, vol.5
, pp. 857-866
-
-
Gottlieb, E.1
Tomlinson, I.P.2
-
30
-
-
80054959409
-
Revisiting the TCA cycle: signaling to tumor formation
-
[Epub ahead of print]. doi:10.1016/j.molmed.2011.06.001
-
Raimundo, N., Baysal, B.E. and Shadel, G.S. (2011) Revisiting the TCA cycle: signaling to tumor formation. Trends Mol. Med. [Epub ahead of print]. doi:10.1016/j.molmed.2011.06.001.
-
(2011)
Trends Mol. Med.
-
-
Raimundo, N.1
Baysal, B.E.2
Shadel, G.S.3
-
31
-
-
0025310140
-
Fetal adrenal medulla catecholamine response to hypoxia-direct and neural components
-
Cheung, C.Y. (1990) Fetal adrenal medulla catecholamine response to hypoxia-direct and neural components. Am. J. Physiol., 258, R1340-R1346.
-
(1990)
Am. J. Physiol.
, vol.258
-
-
Cheung, C.Y.1
-
32
-
-
72949145147
-
The release of adrenaline and noradrenaline from the adrenal glands of the foetal sheep
-
Comline, R.S. and Silver, M. (1961) The release of adrenaline and noradrenaline from the adrenal glands of the foetal sheep. J. Physiol., 156, 424-444.
-
(1961)
J. Physiol.
, vol.156
, pp. 424-444
-
-
Comline, R.S.1
Silver, M.2
-
33
-
-
0023850755
-
Adrenomedullary catecholamine release in the fetus and newborn: secretory mechanisms and their role in stress and survival
-
Slotkin, T.A. and Seidler, F.J. (1988) Adrenomedullary catecholamine release in the fetus and newborn: secretory mechanisms and their role in stress and survival. J. Dev. Physiol., 10, 1-16.
-
(1988)
J. Dev. Physiol.
, vol.10
, pp. 1-16
-
-
Slotkin, T.A.1
Seidler, F.J.2
|