-
1
-
-
18744427037
-
Isolation and initial characterization of a novel zinc finger gene. DNMT3L, on 21q22.3, related to the cytosine-5-methyltransferase 3 gene family
-
Aapola U, Kawasaki K, Scott HS, et al. 2000. Isolation and initial characterization of a novel zinc finger gene. DNMT3L, on 21q22.3, related to the cytosine-5-methyltransferase 3 gene family. Genomics 65:293-298.
-
(2000)
Genomics
, vol.65
, pp. 293-298
-
-
Aapola, U.1
Kawasaki, K.2
Scott, H.S.3
-
3
-
-
5044234361
-
Chromosome 21 and Down syndrome: From genomics to pathophysiology
-
Antonarakis SE, Lyle R, Dermitzakis ET, et al. 2004. Chromosome 21 and Down syndrome: from genomics to pathophysiology. Nat Rev Genet 5:725-738.
-
(2004)
Nat Rev Genet
, vol.5
, pp. 725-738
-
-
Antonarakis, S.E.1
Lyle, R.2
Dermitzakis, E.T.3
-
4
-
-
33646171446
-
NFAT dysregulation by increased dosage of DSCR1 and DYRK1A on chromosome 21
-
Arron JR, Winslow MM, Polleri A, et al. 2006. NFAT dysregulation by increased dosage of DSCR1 and DYRK1A on chromosome 21. Nature 441:595-600.
-
(2006)
Nature
, vol.441
, pp. 595-600
-
-
Arron, J.R.1
Winslow, M.M.2
Polleri, A.3
-
6
-
-
0034118352
-
Analysis of folate form distribution by affinity followed by reversed-phase chromatography with electrochemical detection
-
Bagley PJ, Selhub J. 2000. Analysis of folate form distribution by affinity followed by reversed-phase chromatography with electrochemical detection. Clin Chem 46:404-411.
-
(2000)
Clin Chem
, vol.46
, pp. 404-411
-
-
Bagley, P.J.1
Selhub, J.2
-
8
-
-
1942435249
-
Micromanagers of gene expression: The potentially widespread influence of metazoan microRNAs
-
Bartel DP, Chen C-Z. 2004. Micromanagers of gene expression: the potentially widespread influence of metazoan microRNAs. Nat Rev Genet 5:396-400.
-
(2004)
Nat Rev Genet
, vol.5
, pp. 396-400
-
-
Bartel, D.P.1
Chen, C.-Z.2
-
9
-
-
0030668788
-
The human GARS-AIRS-GART gene encodes two proteins which are differentially expressed during human brain development and temporally overexpressed in cerebellum of individuals with Down syndrome
-
Brodsky G, Barnes T, Bleskan J, et al. 1997. The human GARS-AIRS-GART gene encodes two proteins which are differentially expressed during human brain development and temporally overexpressed in cerebellum of individuals with Down syndrome. Hum Mol Genet 6:2043-2050.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 2043-2050
-
-
Brodsky, G.1
Barnes, T.2
Bleskan, J.3
-
10
-
-
33745020228
-
The production of transgenic mice expressing human cystathionine β-synthase to study Down syndrome
-
Butler C, Bowersox J, Forbes S, et al. 2006. The production of transgenic mice expressing human cystathionine β-synthase to study Down syndrome. Behav Genet 36:429-438.
-
(2006)
Behav Genet
, vol.36
, pp. 429-438
-
-
Butler, C.1
Bowersox, J.2
Forbes, S.3
-
11
-
-
33749066060
-
Phenotype associated with APP duplication in five families
-
Cabrejo L, Guyant-Marechal L, Laquerriere A, et al. 2006. Phenotype associated with APP duplication in five families. Brain 129:2966-2976.
-
(2006)
Brain
, vol.129
, pp. 2966-2976
-
-
Cabrejo, L.1
Guyant-Marechal, L.2
Laquerriere, A.3
-
12
-
-
32544458799
-
Improved national prevalence estimates for 18 selected major birth defects - United States, 1999-2001
-
Centers for Disease Control and Prevention
-
Centers for Disease Control and Prevention. 2006. Improved national prevalence estimates for 18 selected major birth defects - United States, 1999-2001. Morb Mortal Wkly 54:1301-1305.
-
(2006)
Morb Mortal Wkly
, vol.54
, pp. 1301-1305
-
-
-
13
-
-
0034114133
-
From genome to cellular phenotype - a role for metabolic flux analysis?
-
Cornish-Bowden A, Cardenas ML. 2000. From genome to cellular phenotype - a role for metabolic flux analysis? Nat Biotechnol 16:267-268.
-
(2000)
Nat Biotechnol
, vol.16
, pp. 267-268
-
-
Cornish-Bowden, A.1
Cardenas, M.L.2
-
15
-
-
33845315897
-
MicroRNAs preferentially target the genes with high transcriptional regulation complexity
-
Cui Q, Yu Z, Pan Y, et al. 2007. MicroRNAs preferentially target the genes with high transcriptional regulation complexity. Biochem Biophys Res Commun 352:733-738.
-
(2007)
Biochem Biophys Res Commun
, vol.352
, pp. 733-738
-
-
Cui, Q.1
Yu, Z.2
Pan, Y.3
-
16
-
-
2442695243
-
Comparison of human chromosome 21 conserved nongenic sequences (CNGs) with the mouse and dog genomes shows that their selective constraint is independent of their genic environment
-
Dermitzakis ET, Kirkness E, Schwarz S, et al. 2004. Comparison of human chromosome 21 conserved nongenic sequences (CNGs) with the mouse and dog genomes shows that their selective constraint is independent of their genic environment. Genome Res 14:852-859.
-
(2004)
Genome Res
, vol.14
, pp. 852-859
-
-
Dermitzakis, E.T.1
Kirkness, E.2
Schwarz, S.3
-
17
-
-
13144295005
-
Conserved non-genic sequences - an unexpected feature of mammalian genomes
-
Dermitzakis ET, Reymond A, Antonarakis SE. 2005. Conserved non-genic sequences - an unexpected feature of mammalian genomes. Nat Rev Genet 6:151-157.
-
(2005)
Nat Rev Genet
, vol.6
, pp. 151-157
-
-
Dermitzakis, E.T.1
Reymond, A.2
Antonarakis, S.E.3
-
18
-
-
28744454762
-
Gene expression variation and expression quantitative trait mapping of human chromosome 21 genes
-
Deutsch S, Lyle R, Dermitzakis ET, et al. 2005. Gene expression variation and expression quantitative trait mapping of human chromosome 21 genes. Hum Mol Genet 14:3741-3749.
-
(2005)
Hum Mol Genet
, vol.14
, pp. 3741-3749
-
-
Deutsch, S.1
Lyle, R.2
Dermitzakis, E.T.3
-
19
-
-
7444260846
-
The ENCODE (ENCyclopedia of DNA Elements) Project
-
ENCODE Project Consortium
-
ENCODE Project Consortium. 2004. The ENCODE (ENCyclopedia of DNA Elements) Project. Science 306:636-640.
-
(2004)
Science
, vol.306
, pp. 636-640
-
-
-
20
-
-
29144505309
-
The widespread impact of mammalian microRNAs on mRNA repression and evolution
-
Fahr KK-L, Grimson A, Jan C, et al. 2005. The widespread impact of mammalian microRNAs on mRNA repression and evolution. Science 310:1817-1821.
-
(2005)
Science
, vol.310
, pp. 1817-1821
-
-
Fahr, K.K.-L.1
Grimson, A.2
Jan, C.3
-
21
-
-
34347398567
-
Inference of miRNA targets using evolutionary conservation and pathway analysis
-
Gaidatzis D, van Nimwegen E, Hausser J, et al. 2007. Inference of miRNA targets using evolutionary conservation and pathway analysis. BMC Bioinform 8:69.
-
(2007)
BMC Bioinform
, vol.8
, pp. 69
-
-
Gaidatzis, D.1
van Nimwegen, E.2
Hausser, J.3
-
22
-
-
33745021935
-
Transcriptional dysregulation in Down syndrome: Predictions for altered protein complex stoichiometrics and post-translational modification, and consequences for learning/behavior genes ELK, CREB, and the estrogen and glucocorticoid receptors
-
Gardiner K. 2006. Transcriptional dysregulation in Down syndrome: predictions for altered protein complex stoichiometrics and post-translational modification, and consequences for learning/behavior genes ELK, CREB, and the estrogen and glucocorticoid receptors. Behav Genet 36:439-453.
-
(2006)
Behav Genet
, vol.36
, pp. 439-453
-
-
Gardiner, K.1
-
24
-
-
34248336122
-
PhenCode: Connecting ENCODE data with mutations and phenotype
-
Giardine B, Riemer C, Hefferon T, et al. 2007. PhenCode: connecting ENCODE data with mutations and phenotype. Hum Mutat 28:554-562.
-
(2007)
Hum Mutat
, vol.28
, pp. 554-562
-
-
Giardine, B.1
Riemer, C.2
Hefferon, T.3
-
25
-
-
18744369030
-
A gene expression map of human chromosome 21 orthologues in the mouse
-
Gitton Y, Dahmane N, Baik S, et al. 2002. A gene expression map of human chromosome 21 orthologues in the mouse. Nature 420:586-590.
-
(2002)
Nature
, vol.420
, pp. 586-590
-
-
Gitton, Y.1
Dahmane, N.2
Baik, S.3
-
26
-
-
28744442731
-
Meiotic and epigenetic aberrations in the Dnmt3l-deficient male germ cells
-
Hata K, Kusumi M, Yokomine T, et al. 2006. Meiotic and epigenetic aberrations in the Dnmt3l-deficient male germ cells. Mol Reprod Dev 73:116-122.
-
(2006)
Mol Reprod Dev
, vol.73
, pp. 116-122
-
-
Hata, K.1
Kusumi, M.2
Yokomine, T.3
-
27
-
-
0034682403
-
The DNA sequence of human chromosome 21
-
Hattori M, Fujiyama A, Taylor TD, et al. 2000. The DNA sequence of human chromosome 21. Nature 405:311-319.
-
(2000)
Nature
, vol.405
, pp. 311-319
-
-
Hattori, M.1
Fujiyama, A.2
Taylor, T.D.3
-
28
-
-
33847747419
-
Possible compensatory events in adult Down syndrome brain prior to the development of Alzheimer disease neuropathology. Targets for nonpharmacological intervention
-
Head E, Lott IT, Patterson D, et al. 2007. Possible compensatory events in adult Down syndrome brain prior to the development of Alzheimer disease neuropathology. Targets for nonpharmacological intervention. J Alzhheimer's Dis 11:61-76.
-
(2007)
J Alzhheimer's Dis
, vol.11
, pp. 61-76
-
-
Head, E.1
Lott, I.T.2
Patterson, D.3
-
29
-
-
33847697015
-
Copy-number variations add a new layer of complexity in the human genome
-
Hegele RA. 2007. Copy-number variations add a new layer of complexity in the human genome. CMAJ 176:441-442.
-
(2007)
CMAJ
, vol.176
, pp. 441-442
-
-
Hegele, R.A.1
-
30
-
-
33747104514
-
Cell array-based intracellular localization screening reveals novel functional features of human chromosome 21 proteins
-
Hu Y-H, Warnatz H-J, Vanhecke D, et al. 2006. Cell array-based intracellular localization screening reveals novel functional features of human chromosome 21 proteins. BMC Genomics 7:155.
-
(2006)
BMC Genomics
, vol.7
, pp. 155
-
-
Hu, Y.-H.1
Warnatz, H.-J.2
Vanhecke, D.3
-
31
-
-
4444291843
-
Detection of large-scale variation in the human genome
-
Iafrate AJ, Feuk L, Rivera MN, et al. 2004. Detection of large-scale variation in the human genome. Nat Genet 36:949-951.
-
(2004)
Nat Genet
, vol.36
, pp. 949-951
-
-
Iafrate, A.J.1
Feuk, L.2
Rivera, M.N.3
-
32
-
-
4644281364
-
Bioanalytical advances for metabolomics and metabolic profiling
-
Kaddurah-Daouk R, Beecher C, Kristal BS, et al. 2004. Bioanalytical advances for metabolomics and metabolic profiling. PharmaGenomics 4:46-52.
-
(2004)
PharmaGenomics
, vol.4
, pp. 46-52
-
-
Kaddurah-Daouk, R.1
Beecher, C.2
Kristal, B.S.3
-
33
-
-
33745029583
-
Gene-dosage effect on chromosome 21 transcriptome in Trisomy 21: Implication in Down syndrome cognitive disorders
-
Kahlem P. 2006. Gene-dosage effect on chromosome 21 transcriptome in Trisomy 21: implication in Down syndrome cognitive disorders. Behav Genet 36:416-428.
-
(2006)
Behav Genet
, vol.36
, pp. 416-428
-
-
Kahlem, P.1
-
34
-
-
33847317017
-
Redirection of silencing targets by adenosine-to-inosine editing of mRNAs
-
Kawahara Y, Zinshteyn B, Sethupathy P, et al. 2007. Redirection of silencing targets by adenosine-to-inosine editing of mRNAs. Science 315:1137-1140.
-
(2007)
Science
, vol.315
, pp. 1137-1140
-
-
Kawahara, Y.1
Zinshteyn, B.2
Sethupathy, P.3
-
35
-
-
31544467532
-
Nutritional epigenetics: Impact of folate deficiency on DNA methylation and colon cancer susceptibility
-
Kim Y. 2005. Nutritional epigenetics: impact of folate deficiency on DNA methylation and colon cancer susceptibility. J Nutr 135:2703-2709.
-
(2005)
J Nutr
, vol.135
, pp. 2703-2709
-
-
Kim, Y.1
-
36
-
-
0025170497
-
Molecular definition of a region of chromosome 21 that causes features of the Down syndrome phenotype
-
Korenberg JR, Kawashima H, Pulst SM, et al. 1990. Molecular definition of a region of chromosome 21 that causes features of the Down syndrome phenotype. Am J Hum Genet 47:236-246.
-
(1990)
Am J Hum Genet
, vol.47
, pp. 236-246
-
-
Korenberg, J.R.1
Kawashima, H.2
Pulst, S.M.3
-
37
-
-
24644437266
-
The elegance of the microRNAs: A neuronal perspective
-
Kosik KS, Krichevsky AM. 2005. The elegance of the microRNAs: a neuronal perspective. Neuron 47:779-782.
-
(2005)
Neuron
, vol.47
, pp. 779-782
-
-
Kosik, K.S.1
Krichevsky, A.M.2
-
38
-
-
33947095027
-
A human phenome-interactome network of protein complexes implicated in genetic disorders
-
Lage K, Karlberg EO, Sterling ZM, et al. 2007. A human phenome-interactome network of protein complexes implicated in genetic disorders. Nat Biotechnol 25:309-316.
-
(2007)
Nat Biotechnol
, vol.25
, pp. 309-316
-
-
Lage, K.1
Karlberg, E.O.2
Sterling, Z.M.3
-
39
-
-
33645778041
-
Cell type-specific over-expression of chromosome 21 genes in fibroblasts and fetal hearts with trisomy 21
-
Li CM, Guo M, Salas M, et al. 2006. Cell type-specific over-expression of chromosome 21 genes in fibroblasts and fetal hearts with trisomy 21. BMC Med Genet 7:24.
-
(2006)
BMC Med Genet
, vol.7
, pp. 24
-
-
Li, C.M.1
Guo, M.2
Salas, M.3
-
40
-
-
34447331007
-
Duplication of the entire 22.9-Mb human chromosome 21 syntenic region on mouse chromosome 16 causes cardiovascular and gastrointestinal abnormalities
-
Li Z, Yu T, Monshima M, et al. 2007. Duplication of the entire 22.9-Mb human chromosome 21 syntenic region on mouse chromosome 16 causes cardiovascular and gastrointestinal abnormalities. Hum Mol Genet 16:1359-1366.
-
(2007)
Hum Mol Genet
, vol.16
, pp. 1359-1366
-
-
Li, Z.1
Yu, T.2
Monshima, M.3
-
41
-
-
14044262904
-
Structure and regulation of the murine reduced folate carrier gene
-
Liu M, Ge Y, Cabelof DC, et al. 2005. Structure and regulation of the murine reduced folate carrier gene. J Biol Chem 280:5588-5597.
-
(2005)
J Biol Chem
, vol.280
, pp. 5588-5597
-
-
Liu, M.1
Ge, Y.2
Cabelof, D.C.3
-
42
-
-
31544477473
-
Transcriptional regulation of the human reduced folate carrier in childhood aculte lymphoblastic leukemia cells
-
Liu M, Ge Y, Payton SG, et al. 2006. Transcriptional regulation of the human reduced folate carrier in childhood aculte lymphoblastic leukemia cells. Clin Cancer Res 12:608-616.
-
(2006)
Clin Cancer Res
, vol.12
, pp. 608-616
-
-
Liu, M.1
Ge, Y.2
Payton, S.G.3
-
43
-
-
33847763576
-
Genetic unmasking of an epigenetically silenced microRNA in human cancer cells
-
Lujambio A, Ropero S, Ballestar E, et al. 2007. Genetic unmasking of an epigenetically silenced microRNA in human cancer cells. Cancer Res 67:1424-1429.
-
(2007)
Cancer Res
, vol.67
, pp. 1424-1429
-
-
Lujambio, A.1
Ropero, S.2
Ballestar, E.3
-
44
-
-
33646759917
-
A-to-I RNA editing and human disease
-
Maas S, Kawahara Y, Tamburro K, et al. 2006. A-to-I RNA editing and human disease. RNA Biol 3:1-9.
-
(2006)
RNA Biol
, vol.3
, pp. 1-9
-
-
Maas, S.1
Kawahara, Y.2
Tamburro, K.3
-
45
-
-
0037403505
-
Global up-regulation of chromosome 21 gene expression in the developing Down syndrome brain
-
Mao R, Zielke CL, Zielke HR, et al. 2003. Global up-regulation of chromosome 21 gene expression in the developing Down syndrome brain. Genomics 81:457-467.
-
(2003)
Genomics
, vol.81
, pp. 457-467
-
-
Mao, R.1
Zielke, C.L.2
Zielke, H.R.3
-
46
-
-
33847614418
-
Covalent modification of DNA regulates memory formation
-
Miller CA, Sweatt JD. 2007. Covalent modification of DNA regulates memory formation. Neuron 53:857-869.
-
(2007)
Neuron
, vol.53
, pp. 857-869
-
-
Miller, C.A.1
Sweatt, J.D.2
-
47
-
-
0029147794
-
Isolation of a gene encoding a human reduced folate carrier (RFC1) and analysis of its expression in transport-deficient, methotrexate-resistant human breast cancer cells
-
Moscow JA, Gong M, He R, et al. 1995. Isolation of a gene encoding a human reduced folate carrier (RFC1) and analysis of its expression in transport-deficient, methotrexate-resistant human breast cancer cells. Cancer Res 55:3790-3794.
-
(1995)
Cancer Res
, vol.55
, pp. 3790-3794
-
-
Moscow, J.A.1
Gong, M.2
He, R.3
-
48
-
-
33746307840
-
Transcription factor GATA-1 and Down syndrome leukemogenesis
-
Muntean AG, Ge Y, Tauw JW, et al. 2006. Transcription factor GATA-1 and Down syndrome leukemogenesis. Leuk Lymphoma 47:986-997.
-
(2006)
Leuk Lymphoma
, vol.47
, pp. 986-997
-
-
Muntean, A.G.1
Ge, Y.2
Tauw, J.W.3
-
49
-
-
21844477027
-
Human microRNA prediction through a probabilistic co-learning model of sequence and structure
-
Nam J-W, Shin K-R, Han J, et al. 2005. Human microRNA prediction through a probabilistic co-learning model of sequence and structure. Nucleic Acids Res 33:3570-3581.
-
(2005)
Nucleic Acids Res
, vol.33
, pp. 3570-3581
-
-
Nam, J.-W.1
Shin, K.-R.2
Han, J.3
-
50
-
-
34147147595
-
The evolution of animal microRNA function
-
Niwa R, Slack FJ. 2007. The evolution of animal microRNA function. Curr Opin Genet Dev 17:1-6.
-
(2007)
Curr Opin Genet Dev
, vol.17
, pp. 1-6
-
-
Niwa, R.1
Slack, F.J.2
-
51
-
-
33644878125
-
The international gene trap consortium website: A portal to all publicly available gene trap cel lines in mouse
-
Nord AS, Chang PJ, Conklin BR, et al. 2006. The international gene trap consortium website: a portal to all publicly available gene trap cel lines in mouse. Nucleic Acids Res 34:D642-D648.
-
(2006)
Nucleic Acids Res
, vol.34
-
-
Nord, A.S.1
Chang, P.J.2
Conklin, B.R.3
-
52
-
-
25444442381
-
An aneuploid mouse strain carrying human chromosome 21 with Down syndrome phenotypes
-
O'Doherty A, Ruf S, Mulligan C, et al. 2005. An aneuploid mouse strain carrying human chromosome 21 with Down syndrome phenotypes. Science 309:2033-2037.
-
(2005)
Science
, vol.309
, pp. 2033-2037
-
-
O'Doherty, A.1
Ruf, S.2
Mulligan, C.3
-
53
-
-
10644222721
-
Tissue-specific overexpression of the HSA21 gene GABPA: Implications for DS
-
O'Leary DA, Pritchard MA, Xu D, et al. 2004. Tissue-specific overexpression of the HSA21 gene GABPA: implications for DS. Biochim Biophys Acta 1739:81-87.
-
(2004)
Biochim Biophys Acta
, vol.1739
, pp. 81-87
-
-
O'Leary, D.A.1
Pritchard, M.A.2
Xu, D.3
-
54
-
-
7444231620
-
A chromosome 21 "critical region" does not cause specific Down syndrome phenotypes
-
Olson LE, Richtsmeier JT, Leszl J, et al. 2004a. A chromosome 21 "critical region" does not cause specific Down syndrome phenotypes. Science 306:687-690.
-
(2004)
Science
, vol.306
, pp. 687-690
-
-
Olson, L.E.1
Richtsmeier, J.T.2
Leszl, J.3
-
55
-
-
3042612213
-
Down syndrome mouse models Ts65Dn, Ts1Cje, and Ms1Cje/Ts65Dn exhibit variable severity of cerebellar phenotypes
-
Olson LE, Roper RJ, Baxter LL, et al. 2004b. Down syndrome mouse models Ts65Dn, Ts1Cje, and Ms1Cje/Ts65Dn exhibit variable severity of cerebellar phenotypes. Dev Dyn 230:581-589.
-
(2004)
Dev Dyn
, vol.230
, pp. 581-589
-
-
Olson, L.E.1
Roper, R.J.2
Baxter, L.L.3
-
56
-
-
34447338354
-
Trisomy for the Down syndrome critical region is necessary but not sufficient for brain phenotypes of trisomic mice
-
Olson LE, Roper RJ, Sengstaken CL, et al. 2007. Trisomy for the Down syndrome critical region is necessary but not sufficient for brain phenotypes of trisomic mice. Hum Mol Genet 16:774-782.
-
(2007)
Hum Mol Genet
, vol.16
, pp. 774-782
-
-
Olson, L.E.1
Roper, R.J.2
Sengstaken, C.L.3
-
58
-
-
33644872564
-
Cancer incidence of persons with Down syndrome in Finland: A population-based study
-
Patja K, Pukkala E, Sund R, et al. 2006. Cancer incidence of persons with Down syndrome in Finland: a population-based study. Int J Cancer 118:1769-1772.
-
(2006)
Int J Cancer
, vol.118
, pp. 1769-1772
-
-
Patja, K.1
Pukkala, E.2
Sund, R.3
-
59
-
-
13144260659
-
Down syndrome and genetics - a case of linked histories
-
Patterson D, Costa ACS. 2005. Down syndrome and genetics - a case of linked histories. Nat Rev Genet 6:137-147.
-
(2005)
Nat Rev Genet
, vol.6
, pp. 137-147
-
-
Patterson, D.1
Costa, A.C.S.2
-
60
-
-
33847396844
-
Effects of 5′ untranslated region diversity on the posttranscriptional regulation of the human reduced folate carrier
-
Payton SG, Haska CL, Flatley RM, et al. 2007. Effects of 5′ untranslated region diversity on the posttranscriptional regulation of the human reduced folate carrier. Biochim Biophys Acta 1769:131-138.
-
(2007)
Biochim Biophys Acta
, vol.1769
, pp. 131-138
-
-
Payton, S.G.1
Haska, C.L.2
Flatley, R.M.3
-
61
-
-
11844257571
-
Transcriptional regulation of the human reduced folate carrier promoter C: Synergistic transactivation by Sp1 and C/EBP β and identification of a downstream repressor
-
Payton SG, Whetstine JR, Ge Y, et al. 2005. Transcriptional regulation of the human reduced folate carrier promoter C: synergistic transactivation by Sp1 and C/EBP β and identification of a downstream repressor. Biochim Biophys Acta 1727:45-57.
-
(2005)
Biochim Biophys Acta
, vol.1727
, pp. 45-57
-
-
Payton, S.G.1
Whetstine, J.R.2
Ge, Y.3
-
62
-
-
33947510692
-
High-throughput screening for functional adenosine to inosine RNA editing systems. ACS
-
Pokharel S, Beal PA. 2006. High-throughput screening for functional adenosine to inosine RNA editing systems. ACS Chem Biol 1:761-765.
-
(2006)
Chem Biol
, vol.1
, pp. 761-765
-
-
Pokharel, S.1
Beal, P.A.2
-
63
-
-
22144498800
-
Spatial and temporal localization during embryonic and fetal human development of the transcription factor SIM2 in brain regions altered in Down syndrome
-
Rachidi M, Lopes C, Charron G, et al. 2005. Spatial and temporal localization during embryonic and fetal human development of the transcription factor SIM2 in brain regions altered in Down syndrome. Int J Dev Neurosci 23:475-484.
-
(2005)
Int J Dev Neurosci
, vol.23
, pp. 475-484
-
-
Rachidi, M.1
Lopes, C.2
Charron, G.3
-
64
-
-
18744387970
-
Human chromosome 21 gene expression atlas in the mouse
-
Reymond A, Marigo V, Yaylaoglu MB, et al. 2002. Human chromosome 21 gene expression atlas in the mouse. Nature 420:582-586.
-
(2002)
Nature
, vol.420
, pp. 582-586
-
-
Reymond, A.1
Marigo, V.2
Yaylaoglu, M.B.3
-
65
-
-
34447343104
-
Familial 4.3 Mb duplication of 21q22 sheds new light on the Down syndrome critical region
-
Ronan A, Fagan K, Christie L, et al. 2007. Familial 4.3 Mb duplication of 21q22 sheds new light on the Down syndrome critical region. J Med Genet 44:448-451.
-
(2007)
J Med Genet
, vol.44
, pp. 448-451
-
-
Ronan, A.1
Fagan, K.2
Christie, L.3
-
66
-
-
33645789057
-
Understanding the basis for Down syndrome phenotypes
-
Roper RJ, Reeves RH. 2006. Understanding the basis for Down syndrome phenotypes. PloS Genet 2:0231-0236.
-
(2006)
PloS Genet
, vol.2
, pp. 0231-0236
-
-
Roper, R.J.1
Reeves, R.H.2
-
67
-
-
29444442794
-
-
Rovelet-Lecrux A, Hannequin D, Raux G, et al. 2006. APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy. Nat Genet 38:24-26.
-
Rovelet-Lecrux A, Hannequin D, Raux G, et al. 2006. APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy. Nat Genet 38:24-26.
-
-
-
-
68
-
-
20344385568
-
Metabolomic analysis and signatures in motor neuron disease
-
Rozen S, Cudkowicz ME, Bogdanov M, et al. 2005. Metabolomic analysis and signatures in motor neuron disease. Metabolomics 1:101-108.
-
(2005)
Metabolomics
, vol.1
, pp. 101-108
-
-
Rozen, S.1
Cudkowicz, M.E.2
Bogdanov, M.3
-
69
-
-
35349022435
-
Increased App expression in a mouse model of Down's syndrome disrupts NGF transport and causes cholinergic degeneration
-
Salehi A, Delcroix J-D, Belichenko PV, et al. 2006. Increased App expression in a mouse model of Down's syndrome disrupts NGF transport and causes cholinergic degeneration. Neuron 51:1-14.
-
(2006)
Neuron
, vol.51
, pp. 1-14
-
-
Salehi, A.1
Delcroix, J.-D.2
Belichenko, P.V.3
-
70
-
-
32644448942
-
Microarray based DNA methylation profiling: Technology and applications
-
Schumacher A, Kapranov P, Kaminsky Z, et al. 2006. Microarray based DNA methylation profiling: technology and applications. Nucleic Acids Res 34:528-542.
-
(2006)
Nucleic Acids Res
, vol.34
, pp. 528-542
-
-
Schumacher, A.1
Kapranov, P.2
Kaminsky, Z.3
-
71
-
-
3242808027
-
Large-scale copy number polymorphism in the human genome
-
Sebat J, Lakshmi B, Troge J, et al. 2004. Large-scale copy number polymorphism in the human genome. Science 305:525-528.
-
(2004)
Science
, vol.305
, pp. 525-528
-
-
Sebat, J.1
Lakshmi, B.2
Troge, J.3
-
72
-
-
33847317873
-
DNA methylation in health, disease, and cancer
-
Shames DS, Minna JD, Gazdar AF. 2007. DNA methylation in health, disease, and cancer. Curr Mol Med 7:85-102.
-
(2007)
Curr Mol Med
, vol.7
, pp. 85-102
-
-
Shames, D.S.1
Minna, J.D.2
Gazdar, A.F.3
-
73
-
-
0020661091
-
Down syndrome - a disruption of homeostasis
-
Shapiro BL. 1983. Down syndrome - a disruption of homeostasis. Am J Med Genet 14:241-269.
-
(1983)
Am J Med Genet
, vol.14
, pp. 241-269
-
-
Shapiro, B.L.1
-
74
-
-
14744267496
-
Association of tissue-specific differentially methylated regions (TDMs) with differential gene expression
-
Song F, Smith JF, Kimura MT, et al. 2005. Association of tissue-specific differentially methylated regions (TDMs) with differential gene expression. Proc Natl Acad Sci USA 102:3336-3341.
-
(2005)
Proc Natl Acad Sci USA
, vol.102
, pp. 3336-3341
-
-
Song, F.1
Smith, J.F.2
Kimura, M.T.3
-
76
-
-
55449112185
-
Genome-wide associations of gene expression variation in humans
-
Stranger BE, Forrest MS, Clark AG, et al. 2005. Genome-wide associations of gene expression variation in humans. PLoS Genet 1:695-704.
-
(2005)
PLoS Genet
, vol.1
, pp. 695-704
-
-
Stranger, B.E.1
Forrest, M.S.2
Clark, A.G.3
-
77
-
-
33846978695
-
Relative impact of nucleotide and copy number variation on gene expression phenotypes
-
Stranger BE, Forrest MS, Dunning M, et al. 2007. Relative impact of nucleotide and copy number variation on gene expression phenotypes. Science 315:848-853.
-
(2007)
Science
, vol.315
, pp. 848-853
-
-
Stranger, B.E.1
Forrest, M.S.2
Dunning, M.3
-
79
-
-
31544456085
-
The role of mammalian DNA methyltransferases in the regulation of gene expression
-
Turek-Plewa J, Jagodzinski PP. 2005. The role of mammalian DNA methyltransferases in the regulation of gene expression. Cell Mol Biol Lett 10:631-647.
-
(2005)
Cell Mol Biol Lett
, vol.10
, pp. 631-647
-
-
Turek-Plewa, J.1
Jagodzinski, P.P.2
-
80
-
-
33846268788
-
Molecular insights into Down syndrome-associated leukemia
-
Vyas P, Crispino JD. 2007. Molecular insights into Down syndrome-associated leukemia. Curr Opin Pediatr 19:9-14.
-
(2007)
Curr Opin Pediatr
, vol.19
, pp. 9-14
-
-
Vyas, P.1
Crispino, J.D.2
-
81
-
-
2642575083
-
DNA sequence and comparative analysis of chimpanzee chromosome 22
-
Watanabe H, Fujiyama A, Hattori M, et al. 2004. DNA sequence and comparative analysis of chimpanzee chromosome 22. Nature 249:382-388.
-
(2004)
Nature
, vol.249
, pp. 382-388
-
-
Watanabe, H.1
Fujiyama, A.2
Hattori, M.3
-
82
-
-
0036846897
-
The human reduced folate carrier gene is ubiquitously and differentially expressed in normal human tissues: Identification of seven non-coding exons and characterization of a novel promoter
-
Whetstine JR, Flatley RM, Matherly LH. 2002. The human reduced folate carrier gene is ubiquitously and differentially expressed in normal human tissues: identification of seven non-coding exons and characterization of a novel promoter. Biochem J 367:629-640.
-
(2002)
Biochem J
, vol.367
, pp. 629-640
-
-
Whetstine, J.R.1
Flatley, R.M.2
Matherly, L.H.3
-
83
-
-
0035794180
-
The basal promoters of the human reduced folate carrier gene are regulated by a GC-box and a cAMP-response element/AP-1-like element
-
Whetstine JR, Matherly LH. 2001. The basal promoters of the human reduced folate carrier gene are regulated by a GC-box and a cAMP-response element/AP-1-like element. J Biol Chem 276:6350-6358.
-
(2001)
J Biol Chem
, vol.276
, pp. 6350-6358
-
-
Whetstine, J.R.1
Matherly, L.H.2
-
84
-
-
1242296842
-
A comprehensive analysis of allelic methylation status of CpG islands on human chromosome 21q
-
Yamada Y, Watanabe H, Miura F, et al. 2004. A comprehensive analysis of allelic methylation status of CpG islands on human chromosome 21q. Genome Res 14:247-266.
-
(2004)
Genome Res
, vol.14
, pp. 247-266
-
-
Yamada, Y.1
Watanabe, H.2
Miura, F.3
|