Primary and secondary transcriptional effects in the developing human down syndrome brain and heart
Open accessAbstract
Background: Down syndrome, caused by trisomic chromosome 21, is the leading genetic cause of mental retardation. Recent studies demonstrated that dosage-dependent increases in chromosome 21 gene expression occur in trisomy 21. However, it is unclear whether the entire transcriptome is disrupted, or whether there is a more restricted increase in the expression of those genes assigned to chromosome 21. Also, the statistical significance of differentially expressed genes in human Down syndrome tissues has not been reported. Results: We measured levels of transcripts in human fetal cerebellum and heart tissues using DNA microarrays and demonstrated a dosage-dependent increase in transcription across different tissue/cell types as a result of trisomy 21. Moreover, by having a larger sample size, combining the data from four different tissue and cell types, and using an ANOVA approach, we identified individual genes with significantly altered expression in trisomy 21, some of which showed this dysregulation in a tissue-specific manner. We validated our microarray data by over 5,600 quantitative real-time PCRs on 28 genes assigned to chromosome 21 and other chromosomes. Gene expression values from chromosome 21, but not from other chromosomes, accurately classified trisomy 21 from euploid samples. Our data also indicated functional groups that might be perturbed in trisomy 21. Conclusions: In Down syndrome, there is a primary transcriptional effect of disruption of chromosome 21 gene expression, without a pervasive secondary effect on the remaining transcriptome. The identification of dysregulated genes and pathways suggests molecular changes that may underlie the Down syndrome phenotypes.
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Quantification of both mRNA and protein levels in brains of individuals with DS from fetal to adult stages have shown that not all trisomic genes are dysregulated or expressed at 1.5-fold.
“Quantification of both mRNA and protein levels in brains of individuals with DS from fetal to adult stages have shown that not all trisomic genes are dysregulated or expressed at 1.5-fold (Lockstone et al., 2007; Mao et al., 2005; Mao et al., 2003).”
From Sex-specific developmental alterations in DYRK1A expression in the brain of a Down syndrome mouse model (2024) · cites this paper as Mao et al., 2005
The Discussion (page unavailable) says that only a subset of expressed chromosome 21 transcripts was elevated in the tissues studied, supporting the claim that not all trisomic genes are dysregulated. But this study measured RNA in fetal tissues, not protein levels or brains across fetal-to-adult stages; its Conclusion says the relationship between RNA and protein levels was unknown. (LLM, conf=0.90)
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Cites
Controlling the False Discovery Rate: A Practical and Powerful Approach to Multiple Testing
Benjamini, Y., & Hochberg, Y. (1995) · Journal of the Royal Statistical Society Series B: Statistical Methodology · doi:10.1111/j.2517-6161.1995.tb02031.x · Cited by 109,482 · see citing works
Gene Ontology: tool for the unification of biology
Ashburner, M., Ball, C. A., Blake, J. A., Botstein, D., Butler, H., Cherry, J. M., Davis, A. P., Dolinski, K., Dwight, S. S., Eppig, J. T., et al. (2000) · Nature Genetics · doi:10.1038/75556 · Cited by 43,206 · see citing works
The Metabolic and Molecular Bases of Inherited Disease
Scriver, R. C. (1995) · Medical Entomology and Zoology · Cited by 12,101 · see citing works
The metabolic and molecular bases of inherited disease
Chen, Y.-T. (2001) · Medical Entomology and Zoology · Cited by 6,928 · see citing works
The Gene Ontology (GO) database and informatics resource
Gene Ontology Consortium (2003) · Nucleic Acids Research · doi:10.1093/nar/gkh036 · Cited by 4,533 · see citing works
A User's Guide to Principal Components
Leigh, S. D., & Jackson, J. E. (1993) · Technometrics · doi:10.2307/1269292 · Cited by 3,346 · see citing works
Diagnosis of multiple cancer types by shrunken centroids of gene expression
Tibshirani, R. J., Hastie, T. J., Narasimhan, B., & Chu, G. (2002) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.082099299 · Cited by 2,938 · see citing works
A Use's Guide to Principal Components
Jackson, J. E. (1991) · Wiley series in probability and statistics · doi:10.1002/0471725331 · Cited by 2,523 · see citing works
Boyle, E. I., Weng, S., Gollub, J., Jin, H., Botstein, D., Cherry, J. M., & Sherlock, G. (2004) · Bioinformatics · doi:10.1093/bioinformatics/bth456 · Cited by 2,067 · see citing works
Nearest neighbor (NN) norms: NN pattern classification techniques
Dasarathy, B. V. (1991) · Medical Entomology and Zoology · Cited by 1,649 · see citing works
GoMiner: a resource for biological interpretation of genomic and proteomic data
Zeebèrg, B. R., Feng, W., Wang, G., Wang, M. D., Fojo, A. T., Sunshine, M., Narasimhan, S., Kane, D. W., Reinhold, W. C., Lababidi, S., et al. (2003) · Genome biology · doi:10.1186/gb-2003-4-4-r28 · Cited by 1,198 · see citing works
FatiGO: a web tool for finding significant associations of Gene Ontology terms with groups of genes
Al‐Shahrour, F., Díaz‐Uriarte, R., & Dopazo, J. (2004) · Bioinformatics · doi:10.1093/bioinformatics/btg455 · Cited by 1,118 · see citing works
A mouse model for Down syndrome exhibits learning and behaviour deficits
Reeves, R. H., Irving, N. G., Moran, T. H., Wohn, A., Kitt, C., Sisodia, S. S., Schmidt, C., Bronson, R. T., & Davisson, M. T. (1995) · Nature Genetics · doi:10.1038/ng1095-177 · Cited by 913 · see citing works
Doniger, S. W., Salomonis, N., Dahlquist, K. D., VRANIZAN, K. M., Lawlor, S. C., & Conklin, B. R. (2003) · Genome biology · doi:10.1186/gb-2003-4-1-r7 · Cited by 865 · see citing works
(1959) · PubMed · Cited by 820 · see citing works
Zhang, B., Schmoyer, D. D., Kirov, S. A., & Snoddy, J. R. (2004) · BMC Bioinformatics · doi:10.1186/1471-2105-5-16 · Cited by 450 · see citing works
THE SOMATIC CHROMOSOMES IN MONGOLISM
Jacobs, P. A. (1959) · The Lancet · doi:10.1016/s0140-6736(59)91892-6 · Cited by 387 · see citing works
Busciglio, J., Pelsman, A., Wong, C., Pigino, G., Yuan, M., Mori, H., & Yankner, B. A. (2002) · Neuron · doi:10.1016/s0896-6273(02)00604-9 · Cited by 387 · see citing works
Sago, H., Carlson, E. J., Smith, D. J., Kilbridge, J., Rubin, E. M., Mobley, W. C., Epstein, C. J., & Huang, T.-T. (1998) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.95.11.6256 · Cited by 382 · see citing works
Dosage balance in gene regulation: biological implications
Birchler, J. A., Riddle, N. C., Auger, D. L., & Veitia, R. A. (2005) · Trends in Genetics · doi:10.1016/j.tig.2005.02.010 · Cited by 371 · see citing works
Birchler, J. A., Bhadra, U., Bhadra, M. P., & Auger, D. L. (2001) · Developmental Biology · doi:10.1006/dbio.2001.0262 · Cited by 355 · see citing works
The Consequences of Chromosome Imbalance
Epstein, C. J. (1986) · Cambridge University Press eBooks · doi:10.1017/cbo9780511529702 · Cited by 309 · see citing works
Dosage Effects on Gene Expression in a Maize Ploidy Series
Guo, M., Davis, D., & Birchler, J. A. (1996) · Genetics · doi:10.1093/genetics/142.4.1349 · Cited by 301 · see citing works
Discovery and genetic localization of down syndrome cerebellar phenotypes using the Ts65Dn mouse
Baxter, L. L. (2000) · Human Molecular Genetics · doi:10.1093/hmg/9.2.195 · Cited by 275 · see citing works
Kettunen, P. J., & Thesleff, I. (1998) · Developmental Dynamics · doi:10.1002/(sici)1097-0177(199803)211:3 · Cited by 273 · see citing works
Kahlem, P., Sultan, M., Herwig, R., Steinfath, M., Balzereit, D., Eppens, B., Saran, N. G., Pletcher, M. T., South, S. T., Stetten, G., et al. (2004) · Genome Research · doi:10.1101/gr.1951304 · Cited by 249 · see citing works
Trisomy in humans: incidence, origin and etiology
Hassold, T. J., Hunt, P. A., & Sherman, S. L. (1993) · Current Opinion in Genetics & Development · doi:10.1016/0959-437x(93)90111-2 · Cited by 221 · see citing works
Bahn, S., Mimmack, M., Ryan, M., Caldwell, M. A., Jauniaux, E., Starkey, M., Svendsen, C. N., & Emson, P. (2002) · The Lancet · doi:10.1016/s0140-6736(02)07497-4 · Cited by 211 · see citing works
Global up-regulation of chromosome 21 gene expression in the developing down syndrome brain
Mao, R., Zielke, C. L., Ronald Zielke, H., & Pevsner, J. (2003) · Genomics · doi:10.1016/s0888-7543(03)00035-1 · Cited by 207 · see citing works
Self-citationGene Expression From the Aneuploid Chromosome in a Trisomy Mouse Model of Down SyndromePreprint
Lyle, R., Gehrig, C., Neergaard-Henrichsen, C., Deutsch, S., & Antonarakis, S. E. (2004) · Genome Research · doi:10.1101/gr.2090904 · Cited by 202 · see citing works
Transcriptome analysis of human autosomal trisomy
FitzPatrick, D. R. (2002) · Human Molecular Genetics · doi:10.1093/hmg/11.26.3249 · Cited by 198 · see citing works
Down syndrome congenital heart disease: A narrowed region and a candidate gene
Barlow, G. M., Chen, X., Shi, Z. Y., Lyons, G. E., Kurnit, D. M., Celle, L., Spinner, N. B., Zackai, E. H., Pettenati, M. J., Riper, A. J. V., et al. (2001) · Genetics in Medicine · doi:10.1097/00125817-200103000-00002 · Cited by 196 · see citing works
Kalter, H., & Warkany, J. (1983) · New England Journal of Medicine · doi:10.1056/nejm198303033080904 · Cited by 159 · see citing works
Protocols to establish genotype-phenotype correlations in Down syndrome.
Epstein, C. J., Korenberg, J. R., Annerén, G., Antonarakis, S. E., Aymé, S., Courchesne, E., Epstein, L. B., Fowler, A. E., Groner, Y., & Huret, J. L. (1991) · PubMed · Cited by 144 · see citing works
Global disruption of the cerebellar transcriptome in a Down syndrome mouse model
Saran, N. G. (2003) · Human Molecular Genetics · doi:10.1093/hmg/ddg217 · Cited by 143 · see citing works
Amano, K., Sago, H., Uchikawa, C., Suzuki, T., Kotliarova, S. E., Nukina, N., Epstein, C. J., & Yamakawa, K. (2004) · Human Molecular Genetics · doi:10.1093/hmg/ddh154 · Cited by 143 · see citing works
Congenital heart disease in Down's syndrome: two year prospective early screening study.
Tubman, T. R. J., Shields, M. D., Craig, B., Mulholland, H., & Nevin, N. C. (1991) · BMJ · doi:10.1136/bmj.302.6790.1425 · Cited by 124 · see citing works
The association between congenital heart disease and Down syndrome in prenatal life
Paladini, D., Tartaglione, A., Agangi, A., Teodoro, A., Forleo, F., Borghese, A., & Martinelli, P. (2000) · Ultrasound in Obstetrics and Gynecology · doi:10.1046/j.1469-0705.2000.00027.x · Cited by 113 · see citing works
A STATISTICAL NOTE ON CEREBELLAR AND BRAIN‐STEM WEIGHT IN MONGOLISM
Crome, L. C., Cowie, V. A., & Slater, E. T. O. (1966) · Journal of Intellectual Disability Research · doi:10.1111/j.1365-2788.1966.tb00173.x · Cited by 112 · see citing works
Chrast, R., Scott, H. S., Papasavvas, M. P., Rossier, C., Antonarakis, E. S., Barras, C., Davisson, M. T., Schmidt, C., Estivill, X., Dierssen, M., et al. (2000) · Genome Research · doi:10.1101/gr.10.12.2006 · Cited by 100 · see citing works
Clinical diagnosis of Down's syndrome
Jackson, J. F., North, E., & Thomas, J. G. (1976) · Clinical Genetics · doi:10.1111/j.1399-0004.1976.tb01601.x · Cited by 87 · see citing works
Dauphinot, L., Lyle, R., Rivals, I., Dang, M., Moldrich, R. X., Golfier, G., Ettwiller, L. M., Toyama, K., Rossier, J., Personnaz, L., et al. (2004) · Human Molecular Genetics · doi:10.1093/hmg/ddi033 · Cited by 86 · see citing works
Tang, Y., Schapiro, M. B., Franz, D. N., Patterson, B. J., Hickey, F. J., Schorry, E. K., Hopkin, R. J., Wylie, M., Narayan, T., Glauser, T. A., et al. (2004) · Annals of Neurology · doi:10.1002/ana.20291 · Cited by 82 · see citing works
FitzPatrick, D. R. (2005) · Trends in Genetics · doi:10.1016/j.tig.2005.02.012 · Cited by 80 · see citing works
The influence of whole-arm trisomy on gene expression in Drosophila.
Devlin, R. H., Holm, D. G., & Grigliatti, T. A. (1988) · Genetics · doi:10.1093/genetics/118.1.87 · Cited by 75 · see citing works
Davidoff, L. M. (1928) · Archives of Neurology And Psychiatry · doi:10.1001/archneurpsyc.1928.02210180080004 · Cited by 65 · see citing works
Blom, N. A., Ottenkamp, J. J., Wenink, A. C. G., & Groot, A. C. G. (2003) · The American Journal of Cardiology · doi:10.1016/s0002-9149(02)03106-5 · Cited by 65 · see citing works
Recycling to remodel: evolution of dosage-compensation complexes
Pannuti, A., & Lucchesi, J. C. (2000) · Current Opinion in Genetics & Development · doi:10.1016/s0959-437x(00)00136-2 · Cited by 47 · see citing works
Gene Expression Profile Analysis in Human T Lymphocytes from Patients with Down Syndrome
Giannone, S., Strippoli, P., Vitale, L., Casadei, R., Canaider, S., Lenzi, L., D’Addabbo, P., Frabetti, F., Facchin, F., Farina, A., et al. (2004) · Annals of Human Genetics · doi:10.1046/j.1529-8817.2003.00123.x · Cited by 45 · see citing works
Gross, S. J., Ferreira, J. C., Morrow, B. E., Dar, P., Funke, B., Khabele, D., & Merkatz, I. R. (2002) · American Journal of Obstetrics and Gynecology · doi:10.1067/mob.2002.123542 · Cited by 41 · see citing works
MECHANISMS OF THE EFFECTS OF ANEUPLOIDY IN MAMMALS
Epstein, C. J. (1988) · Annual Review of Genetics · doi:10.1146/annurev.ge.22.120188.000411 · Cited by 39 · see citing works
Gene Expression Analysis of Cultured Amniotic Fluid Cell with Down Syndrome by DNA Microarray
Chung, I.-H., Lee, S., Lee, K.-W., Park, S., Cha, K.-Y., Kim, N.-S., Yoo, H.-S., Kim, Y. S., & 이수만 (2005) · Journal of Korean Medical Science · doi:10.3346/jkms.2005.20.1.82 · Cited by 37 · see citing works
Prader-Willi-like syndrome in a patient with an Xq23q25 duplication
Monaghan, K. G., Dyke, D. L. V., & Feldman, G. L. (1998) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19981116)80:3 · Cited by 29 · see citing works
Venugopalan, P., & Agarwal, A. K. (2003) · PubMed · Cited by 29 · see citing works
Type VI collagen in the cardiac valves and connective tissue septa during heart development.
Kitten, G. T., Kolker, S. J., Krob, S. L., & Klewer, S. E. (1996) · PubMed · Cited by 17 · see citing works
SeqExpress: desktop analysis and visualization tool for gene expression experiments
Boyle, J. (2004) · Bioinformatics · doi:10.1093/bioinformatics/bth123 · Cited by 14 · see citing works
Cleft of the mitral valve in patients with Down's syndrome
Fraisse, A., Massih, T. A., Bonnet, D., Sidi, D., & Kachaner, J. (2002) · Cardiology in the Young · doi:10.1017/s1047951102000057 · Cited by 12 · see citing works
Flagged first, then by citations
Research works printed but not linked: 1
- Lejeune J Gautier M Turpin R Etudes des chromosomes somatique de neuf enfants mongoliens. Comptes Rendus Academie des Sciences Paris 1959 248 1721 1722 13639368
Cited by
Sorted by citations
Evolution of the neocortex: a perspective from developmental biology
Rakic, P. (2009) · Nature reviews. Neuroscience · doi:10.1038/nrn2719 · Cited by 1,565 · see citing works
Aït Yahya-Graison, E., Aubert, J., Dauphinot, L., Rivals, I., Prieur, M., Golfier, G., Rossier, J., Personnaz, L., Créau, N., Bléhaut, H., et al. (2007) · The American Journal of Human Genetics · doi:10.1086/520000 · Cited by 338 · see citing works
Transcriptional consequences of aneuploidy
Sheltzer, J. M., Torres, E. M., Dunham, M. J., & Amon, A. (2012) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1209227109 · Cited by 290 · see citing works
Ohnologs in the human genome are dosage balanced and frequently associated with disease
Makino, T. T., & McLysaght, A. (2010) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0914697107 · Cited by 274 · see citing works
Gene expression profiling in the adult Down syndrome brain
Lockstone, H. E., Harris, L. W., Swatton, J. E., Wayland, M. T., Holland, A. J., & Bahn, S. (2007) · Genomics · doi:10.1016/j.ygeno.2007.08.005 · Cited by 240 · see citing works
Olmos-Serrano, J. L., Kang, H. J., Tyler, W. A., Silbereis, J. C., Cheng, F., Zhu, Y., Pletikos, M., Jankovic-Rapan, L., Cramer, N. P., Galdzicki, Z., et al. (2016) · Neuron · doi:10.1016/j.neuron.2016.01.042 · Cited by 239 · see citing works
“…have investigated gene expression in postmortem human DS brains or derived pluripotent stem cells (Letourneau et al., 2014; Lock- stone et al., 2007; Mao et al., 2003, 2005), these studies are limited by sparse genome coverage, numbers of samples or developmental time points, and potential…”
The diverse consequences of aneuploidy
Chunduri, N. K., & Štorchová, Z. (2018) · Nature Cell Biology · doi:10.1038/s41556-018-0243-8 · Cited by 207 · see citing works
Belichenko, P. V., Kleschevnikov, A. M., Salehi, A., Epstein, C. J., & Mobley, W. C. (2007) · The Journal of Comparative Neurology · doi:10.1002/cne.21433 · Cited by 202 · see citing works
Natural Gene-Expression Variation in Down Syndrome Modulates the Outcome of Gene-Dosage Imbalance
Prandini, P., Deutsch, S., Lyle, R., Gagnebin, M., Delucinge-Vivier, C., Delorenzi, M., Gehrig, C., Descombes, P., Sherman, S. L., Bricarelli, F. D., et al. (2007) · The American Journal of Human Genetics · doi:10.1086/519248 · Cited by 196 · see citing works
Briggs, J. A., Sun, J., Shepherd, J., Ovchinnikov, D. A., Chung, T.-L., Nayler, S. P., Kao, L.-P., Morrow, C. A., Thakar, N. Y., Soo, S.-Y., et al. (2013) · Stem Cells · doi:10.1002/stem.1297 · Cited by 151 · see citing works
Conti, A. M. F., Fabbrini, F., D'Agostino, P., Negri, R., Greco, D., Genesio, R., D'Armiento, M. R., Olla, C., Paladini, D., Zannini, M., et al. (2007) · BMC Genomics · doi:10.1186/1471-2164-8-268 · Cited by 143 · see citing works
Mitochondrial dysfunction in down syndrome: molecular mechanisms and therapeutic targets
Izzo, A., Mollo, N., Nitti, M. P., Paladino, S., Calı̀, G., Genesio, R., Bonfiglio, F., Cicatiello, R., Barbato, M., Sarnataro, V., et al. (2018) · Molecular Medicine · doi:10.1186/s10020-018-0004-y · Cited by 143 · see citing works
Aneuploidy: From a Physiological Mechanism of Variance to Down Syndrome
Dierssen, M., Hérault, Y., & Estivill, X. (2009) · Physiological Reviews · doi:10.1152/physrev.00032.2007 · Cited by 132 · see citing works
Pereira, P. L., Magnol, L., Sahún, I., Brault, V., Duchon, A., Prandini, P., Gruart, A., Bizot, J., Chadefaux, B., Deutsch, S., et al. (2009) · Human Molecular Genetics · doi:10.1093/hmg/ddp438 · Cited by 125 · see citing works
Aziz, N. M., Guedj, F., Pennings, J. L. A., Olmos-Serrano, J. L., Siegel, A., Haydar, T. F., & Bianchi, D. W. (2018) · Disease Models & Mechanisms · doi:10.1242/dmm.031013 · Cited by 118 · see citing works
Slonim, D. K., Koide, K., Johnson, K. L., Tantravahi, U., Cowan, J. M., Jarrah, Z., & Bianchi, D. W. (2009) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0903909106 · Cited by 117 · see citing works
Esposito, G., Imitola, J., Lu, J., De Filippis, D., Scuderi, C., Ganesh, V. S., Folkerth, R., Hecht, J., Shin, S., Iuvone, T., et al. (2008) · Human Molecular Genetics · doi:10.1093/hmg/ddm322 · Cited by 115 · see citing works
Altered DNA Methylation in Leukocytes with Trisomy 21
Kerkel, K., Schupf, N., Hatta, K., Pang, D. I., Salas, M. C., Kratz, A. F., Minden, M. D., Murty, V. V. V. S., Zigman, W. B., Mayeux, R. P., et al. (2010) · PLoS Genetics · doi:10.1371/journal.pgen.1001212 · Cited by 114 · see citing works
Mental retardation in Down syndrome: From gene dosage imbalance to molecular and cellular mechanisms
Rachidi, M., & Lopes, C. (2007) · Neuroscience Research · doi:10.1016/j.neures.2007.08.007 · Cited by 111 · see citing works
Hüettel, B., Kreil, D. P., Matzke, M. A., & Matzke, A. J. M. (2008) · PLoS Genetics · doi:10.1371/journal.pgen.1000226 · Cited by 109 · see citing works
Izzo, A., Nitti, M. P., Mollo, N., Paladino, S., Procaccini, C., Faicchia, D., Calı̀, G., Genesio, R., Bonfiglio, F., Cicatiello, R., et al. (2017) · Human Molecular Genetics · doi:10.1093/hmg/ddx016 · Cited by 100 · see citing works
Rachidi, M., & Lopes, C. (2008) · European Journal of Paediatric Neurology · doi:10.1016/j.ejpn.2007.08.010 · Cited by 101 · see citing works
Piccoli, C., Izzo, A., Scrima, R., Bonfiglio, F., Manco, R., Negri, R., Quarato, G., Cela, O., Ripoli, M. C., Prisco, M., et al. (2012) · Human Molecular Genetics · doi:10.1093/hmg/dds529 · Cited by 96 · see citing works
Genome-wide expression studies in Autism spectrum disorder, Rett syndrome, and Down syndrome
Lintas, C., Sacco, R., & Persico, A. M. (2012) · Neurobiology of Disease · doi:10.1016/j.nbd.2010.11.010 · Cited by 96 · see citing works
Li, C.-M., Guo, M., Salas, M. C., Schupf, N., Silverman, W. P., Zigman, W. B., Husain, S., Warburton, D., Thaker, H. M., & Tycko, B. (2006) · BMC Medical Genetics · doi:10.1186/1471-2350-7-24 · Cited by 85 · see citing works
Choi, J. H. K., Berger, J. D., Mazzella, M. J., Morales‐Corraliza, J., Cataldo, A. M., Nixon, R. A., Ginsberg, S. D., Levy, E., & Mathews, P. M. (2009) · Journal of Neurochemistry · doi:10.1111/j.1471-4159.2009.06277.x · Cited by 83 · see citing works
Bhattacharyya, A., McMillan, E., Chen, S. I., Wallace, K., & Svendsen, C. N. (2009) · Developmental Neuroscience · doi:10.1159/000236899 · Cited by 79 · see citing works
Gene expression variation in Down's syndrome mice allows prioritization of candidate genes
Sultan, M., Piccini, I., Balzereit, D., Herwig, R., Saran, N. G., Lehrach, H., Reeves, R. H., & Yaspo, M.-L. (2007) · Genome Biology · doi:10.1186/gb-2007-8-5-r91 · Cited by 78 · see citing works
Down syndrome and the enteric nervous system
Moore, S. W. (2008) · Pediatric Surgery International · doi:10.1007/s00383-008-2188-7 · Cited by 77 · see citing works
Specific transcriptional changes in human fetuses with autosomal trisomies
Altug-Teber, Ö., Bonin, M., Walter, M., Mau-Holzmann, U. A., Dufke, A., Stappert, H., TEKESIN, I., Heilbronner, H., Nieselt, K., & Rieß, O. (2007) · Cytogenetic and Genome Research · doi:10.1159/000112058 · Cited by 76 · see citing works
Yim, A., Koti, P. S., Bonnard, A., Marchianò, F., Dürrbaum, M., Garcı́a-Pérez, C., Villaveces, J. M., Gamal, S., Cardone, G., Perocchi, F., et al. (2019) · Nucleic Acids Research · doi:10.1093/nar/gkz1128 · Cited by 75 · see citing works
Chang, K. T., & Min, K. (2009) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0904397106 · Cited by 74 · see citing works
Integrated analysis of DNA copy number and gene expression microarray data using gene sets
de Menezes, R. X., Boetzer, M., Sieswerda, M. S., van Ommen, G. B., & Boer, J. M. (2009) · BMC Bioinformatics · doi:10.1186/1471-2105-10-203 · Cited by 64 · see citing works
NRIP1/RIP140 siRNA-mediated attenuation counteracts mitochondrial dysfunction in Down syndrome
Izzo, A., Manco, R., Bonfiglio, F., Calı̀, G., de Cristofaro, T., Patergnani, S., Cicatiello, R., Scrima, R., Zannini, M., Pinton, P., et al. (2014) · Human Molecular Genetics · doi:10.1093/hmg/ddu157 · Cited by 64 · see citing works
Trisomy 21 and Down syndrome: a short review
Sommer, C., & Henrique‐Silva, F. (2008) · Brazilian Journal of Biology · doi:10.1590/s1519-69842008000200031 · Cited by 61 · see citing works
Guedj, F., Pennings, J. L. A., Massingham, L. J., Wick, H. C., Siegel, A. E., Tantravahi, U., & Bianchi, D. W. (2016) · Scientific Reports · doi:10.1038/srep32353 · Cited by 59 · see citing works
Sobol, M., Klar, J., Laan, L., Shahsavani, M., Schuster, J., Annerén, G., Konzer, A., Mi, J., Bergquist, J., Nordlund, J., et al. (2019) · Molecular Neurobiology · doi:10.1007/s12035-019-1585-3 · Cited by 58 · see citing works
Laffaire, J., Rivals, I., Dauphinot, L., Pasteau, F., Wehrlé, R., Larrat, B., Vitalis, T., Moldrich, R. X., Rossier, J., Sinkus, R., et al. (2009) · BMC Genomics · doi:10.1186/1471-2164-10-138 · Cited by 56 · see citing works
Inborn Errors of Adaptive Immunity in Down Syndrome
Verstegen, R. H. J., & Kusters, M. (2020) · Journal of Clinical Immunology · doi:10.1007/s10875-020-00805-7 · Cited by 55 · see citing works
Gene expression analysis of induced pluripotent stem cells from aneuploid chromosomal syndromes
Zhang, R., Hao, L., Wang, L., Chen, M., Li, W., Li, R., Yu, J. M., Xiao, J., & Wu, J. (2013) · BMC Genomics · doi:10.1186/1471-2164-14-s5-s8 · Cited by 53 · see citing works
Horiuchi, Y., Kano, S., Ishizuka, K., Cascella, N. G., Ishii, S., Talbot, C. C., Jaffe, A. E., Okano, H., Pevsner, J., Colantuoni, C., et al. (2013) · Neuroscience Research · doi:10.1016/j.neures.2013.09.010 · Cited by 53 · see citing works
Self-citationProfiling expression changes caused by a segmental aneuploid in maize
Makarevitch, I., Phillips, R. L., & Springer, N. M. (2008) · BMC Genomics · doi:10.1186/1471-2164-9-7 · Cited by 53 · see citing works
Blood Beta-Amyloid and Tau in Down Syndrome: A Comparison with Alzheimer’s Disease
Lee, N., Yang, S., Chieh, J.-J., Huang, P.-T., Chang, L.-M., Chiu, Y., Huang, A.-C., Chien, Y., Hwu, W., & Chiu, M. (2017) · Frontiers in Aging Neuroscience · doi:10.3389/fnagi.2016.00316 · Cited by 50 · see citing works
Ponroy Bally, B., Farmer, W. T., Jones, E. V., Jessa, S., Kacerovsky, J. B., Mayran, A., Peng, H., Lefebvre, J. L., Drouin, J., Hayer, A., et al. (2020) · Human Molecular Genetics · doi:10.1093/hmg/ddaa003 · Cited by 49 · see citing works
Down syndrome gene dosage imbalance on cerebellum development
Moldrich, R. X., Dauphinot, L., Laffaire, J., Rossier, J., & Potier, M. (2007) · Progress in Neurobiology · doi:10.1016/j.pneurobio.2007.02.006 · Cited by 49 · see citing works
Developmental Defects in Trisomy 21 and Mouse Models
Delabar, J. M., Aflalo-Rattenbac, R., & Créau, N. (2006) · The Scientific World JOURNAL · doi:10.1100/tsw.2006.322 · Cited by 47 · see citing works
The power of comparative and developmental studies for mouse models of Down syndrome
Moore, C. S., & Roper, R. J. (2007) · Mammalian Genome · doi:10.1007/s00335-007-9030-8 · Cited by 48 · see citing works
A de novo 1.4‐Mb deletion at 21q22.11 in a boy with developmental delay
Fukai, R., Hiraki, Y., Nishimura, G., Nakashima, M., Tsurusaki, Y., Saitsu, H., Matsumoto, N., & Miyake, N. (2014) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.36377 · Cited by 47 · see citing works
Rogers, H. A., Kilday, J., Mayne, C. M., Ward, J. H., Adamowicz‐Brice, M., Schwalbe, E. C., Clifford, S. C., Coyle, B., & Grundy, R. G. (2011) · Acta Neuropathologica · doi:10.1007/s00401-011-0904-1 · Cited by 45 · see citing works
Noninvasive prenatal testing creates an opportunity for antenatal treatment of Down syndrome
Guedj, F., & Bianchi, D. W. (2013) · Prenatal Diagnosis · doi:10.1002/pd.4134 · Cited by 45 · see citing works
Aneuploidy Causes Tissue-Specific Qualitative Changes in Global Gene Expression Patterns in Maize
Makarevitch, I., & Harris, C. (2009) · PLANT PHYSIOLOGY · doi:10.1104/pp.109.150466 · Cited by 44 · see citing works
Stem and progenitor cell dysfunction in human trisomies
Liu, B., Filippi, S. L., Roy, A., & Roberts, I. A. G. (2014) · EMBO Reports · doi:10.15252/embr.201439583 · Cited by 42 · see citing works
Moldrich, R. X., Dauphinot, L., Laffaire, J., Vitalis, T., Hérault, Y., Beart, P., Rossier, J., Vivien, D., Gehrig, C., Antonarakis, S., et al. (2009) · Journal of Neuroscience Research · doi:10.1002/jnr.22131 · Cited by 48 · see citing works
Pecze, L., Randi, E. B., & Szabó, C. (2020) · Molecular Medicine · doi:10.1186/s10020-020-00225-8 · Cited by 41 · see citing works
Duchon, A., Moreno, M. D. M. M., Lorenzo, S. M., de Souza, M. P. S., Chevalier, C., Nalesso, V., Méziane, H., de Sousa, P. L., Noblet, V., Armspach, J., et al. (2021) · Human Molecular Genetics · doi:10.1093/hmg/ddab012 · Cited by 38 · see citing works
Molecular Diagnostics in Sepsis: From Bedside to Bench
Chung, T. P., Laramie, J. M., Meyer, D. J., Downey, T. J., Tam, L. H. Y., Ding, H., Buchman, T. G., Karl, I. E., Stormo, G. D., Hotchkiss, R. S., et al. (2006) · Journal of the American College of Surgeons · doi:10.1016/j.jamcollsurg.2006.06.028 · Cited by 41 · see citing works
Self-citationIdentification of dysregulated genes in lymphocytes from children with Down syndrome
Sommer, C., Pavarino, É. C., Goloni‐Bertollo, E. M., & Henrique‐Silva, F. (2008) · Genome · doi:10.1139/g07-100 · Cited by 42 · see citing works
Rachidi, M., & Lopes, C. (2010) · American Journal on Intellectual and Developmental Disabilities · doi:10.1352/1944-7558-115.2.83 · Cited by 36 · see citing works
Barman, P., Reddy, D., & Bhaumik, S. R. (2019) · Non-Coding RNA · doi:10.3390/ncrna5010011 · Cited by 39 · see citing works
Besson, V., Brault, V., Duchon, A., Togbe, D., Bizot, J., Quesniaux, V. F. J., Ryffel, B., & Hérault, Y. (2007) · Human Molecular Genetics · doi:10.1093/hmg/ddm152 · Cited by 38 · see citing works
Fei, X., Shi, Q., Qi, Y., Wang, S., Yu, L., Hu, H., Liu, Y., Yang, T., & Wei, A. (2021) · Horticulture Research · doi:10.1038/s41438-020-00459-x · Cited by 36 · see citing works
Astrocytes in Down Syndrome Across the Lifespan
Ponroy Bally, B., & Murai, K. K. (2021) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2021.702685 · Cited by 35 · see citing works
Validation of Computational Methods in Genomics
Dougherty, E. R., Hua, J., & Bittner, M. L. (2007) · Current Genomics · doi:10.2174/138920207780076956 · Cited by 34 · see citing works
Gene expression variation increase in trisomy 21 tissues
Chou, C., Liu, L.-Y. D., Chen, C., Tsai, C. H., Hwa, H., Chang, L. Y., Lin, Y. S., & Hsieh, F. J. (2008) · Mammalian Genome · doi:10.1007/s00335-008-9121-1 · Cited by 34 · see citing works
Ripoll, C., Rivals, I., Ait‐Yahya, E., Dauphinot, L., Paly, E., Mircher, C., Ravel, A., Grattau, Y., Bléhaut, H., Mégarbané, A., et al. (2012) · PLoS ONE · doi:10.1371/journal.pone.0041616 · Cited by 34 · see citing works
Laan, L., Klar, J., Sobol, M., Hoeber, J., Shahsavani, M., Kele, M., Fatima, A., Zakaria, M., Annerén, G., Falk, A., et al. (2020) · Clinical Epigenetics · doi:10.1186/s13148-019-0803-1 · Cited by 33 · see citing works
Guedj, F., Pennings, J. L. A., Ferres, M., Graham, L. C., Wick, H. C., Miczek, K. A., Slonim, D. K., & Bianchi, D. W. (2015) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.37156 · Cited by 32 · see citing works
Role of CyPA in cardiac hypertrophy and remodeling
Cao, M., Yuan, W., Peng, M., Mao, Z., Zhao, Q., Sun, X., & Yan, J. (2019) · Bioscience Reports · doi:10.1042/bsr20193190 · Cited by 32 · see citing works
Granese, B., Scala, I., Spatuzza, C., Valentino, A., Coletta, M., Vacca, R. A., Luca, P. D., & Andria, G. (2013) · BMC Medical Genomics · doi:10.1186/1755-8794-6-24 · Cited by 32 · see citing works
Tan, W., Sun, L., Zhang, D., Sun, J., Qian, J., Hu, X., Wang, W., Sun, Y., Ma, L., & Zhu, C. (2006) · Experimental Parasitology · doi:10.1016/j.exppara.2006.09.020 · Cited by 31 · see citing works
Using systems biology to simplify complex disease: Immune cartography
Polpitiya, A. D., McDunn, J. E., Burykin, A., Ghosh, B. K., & Cobb, J. P. (2008) · Critical Care Medicine · doi:10.1097/ccm.0b013e3181920cb0 · Cited by 30 · see citing works
Constitutional trisomy 8 mosaicism as a model for epigenetic studies of aneuploidy
Davidsson, J., Veerla, S., & Johansson, B. (2013) · Epigenetics & Chromatin · doi:10.1186/1756-8935-6-18 · Cited by 30 · see citing works
Raveau, M., Lignon, J. M., Nalesso, V., Duchon, A., Groner, Y., Sharp, A. J., Dembélé, D., Brault, V., & Hérault, Y. (2012) · PLoS Genetics · doi:10.1371/journal.pgen.1002724 · Cited by 30 · see citing works
Créau, N. (2012) · Neural Plasticity · doi:10.1155/2012/171639 · Cited by 30 · see citing works
Cho, C.-K. J., Drabovich, A. P., Karagiannis, G. S., Martínez‐Morillo, E., Dason, S., Dimitromanolakis, A., & Diamandis, E. P. (2013) · Clinical Proteomics · doi:10.1186/1559-0275-10-2 · Cited by 30 · see citing works
Aberrant epigenetic landscape in intellectual disability
Sanchez-Mut, J. V., Huertas, D., & Esteller, M. (2012) · Progress in brain research · doi:10.1016/b978-0-444-54299-1.00004-2 · Cited by 30 · see citing works
Mollo, N., Esposito, M., Aurilia, M., Scognamiglio, R., Accarino, R., Bonfiglio, F., Cicatiello, R., Charalambous, M., Procaccini, C., Micillo, T., et al. (2021) · Biology · doi:10.3390/biology10070609 · Cited by 29 · see citing works
Brain Phenotype of Transgenic Mice Overexpressing Cystathionine β-Synthase
Régnier, V., Billard, J., Gupta, S., Potier, B., Woerner, S., Paly, E., Ledru, A., David, S., Luilier, S., Bizot, J., et al. (2012) · PLoS ONE · doi:10.1371/journal.pone.0029056 · Cited by 27 · see citing works
Genome-Wide Expression Analysis in Down Syndrome: Insight into Immunodeficiency
Li, C. V., Jin, L., Bai, Y., Chen, Q., Fu, L., Yang, M., Xiao, H., Zhao, G., & Wang, S. (2012) · PLoS ONE · doi:10.1371/journal.pone.0049130 · Cited by 27 · see citing works
Genomic determinants in the phenotypic variability of Down syndrome
Letourneau, A., & Antonarakis, S. E. (2012) · Progress in brain research · doi:10.1016/b978-0-444-54299-1.00002-9 · Cited by 28 · see citing works
Koterski, J. F., Twenhafel, N., Porter, A. I., Reed, D., Martino-Catt, S., Sobral, B., Crasta, O., Downey, T. J., & DaSilva, L. (2007) · FEMS Immunology & Medical Microbiology · doi:10.1111/j.1574-695x.2007.00319.x · Cited by 27 · see citing works
Self-citationAlterations of brain circuits in Down syndrome murine models
Gotti, S., Caricati, E., & Panzica, G. (2011) · Journal of Chemical Neuroanatomy · doi:10.1016/j.jchemneu.2011.09.002 · Cited by 25 · see citing works
Bhushan, A., Singh, A., Kapur, S., Borthakur, B. B., Sharma, J. D., Rai, A. K., Kataki, A. C., & Saxena, S. (2017) · OMICS A Journal of Integrative Biology · doi:10.1089/omi.2017.0116 · Cited by 24 · see citing works
Rachidi, M., Delezoide, A., Delabar, J. M., & Lopes, C. (2009) · International Journal of Developmental Neuroscience · doi:10.1016/j.ijdevneu.2009.02.001 · Cited by 24 · see citing works
Guedj, F., Pennings, J. L. A., Wick, H. C., & Bianchi, D. W. (2014) · Brain Pathology · doi:10.1111/bpa.12151 · Cited by 23 · see citing works
Liu, J., Wang, T., Xiong, L., Xue, L., Al‐Hawwas, M., Huang, J., Niu, R., Tan, Y., Xu, Y., & Su, Y.-Y. (2019) · Neural Regeneration Research · doi:10.4103/1673-5374.264469 · Cited by 21 · see citing works
Transcription dosage compensation does not occur in Down syndrome
Hunter, S., Dowell, R. D., Hendrix, J., Freeman, J., & Allen, M. A. (2023) · BMC Biology · doi:10.1186/s12915-023-01700-4 · Cited by 21 · see citing works
Increased levels of carbonic anhydrase II in the developing Down syndrome brain
Palminiello, S., Kida, E., Kaur, K., Walus, M., Wisniewski, K. E., Wierzba‐Bobrowicz, T., Rabe, A., Albertini, G., & Golabek, A. A. (2007) · Brain Research · doi:10.1016/j.brainres.2007.11.023 · Cited by 21 · see citing works
Modeling Down syndrome in cells: From stem cells to organoids
Gough, G., O’Brien, N. L., Alić, I., Goh, P. A., Yeap, Y. J., Groet, J., Nižetić, D., & Murray, A. (2019) · Progress in brain research · doi:10.1016/bs.pbr.2019.10.003 · Cited by 20 · see citing works
Duchon, A., Besson, V., Pereira, P. L., Magnol, L., & Hérault, Y. (2008) · Genetics · doi:10.1534/genetics.108.092312 · Cited by 20 · see citing works
Expression Signature as a Biomarker for Prenatal Diagnosis of Trisomy 21
Volk, M., Maver, A., Lovrečić, L., Juvan, P., & Peterlin, B. (2013) · PLoS ONE · doi:10.1371/journal.pone.0074184 · Cited by 19 · see citing works
Pennings, J. L. A., Rodenburg, W., Imholz, S., Koster, M. P. H., van Oostrom, C. T. M., Breit, T. M., Schielen, P. C. J. I., & de Vries, A. (2011) · PLoS ONE · doi:10.1371/journal.pone.0018866 · Cited by 19 · see citing works
Shao, J., Chen, H., Yang, D., Jiang, M., Zhang, H., Wu, B., Li, J., Yuan, L., & Liu, C. (2017) · Scientific Reports · doi:10.1038/s41598-017-04303-6 · Cited by 19 · see citing works
Briggs, J., Mason, E. A., Ovchinnikov, D. A., Wells, C. A., & Wolvetang, E. J. (2013) · Stem Cells Translational Medicine · doi:10.5966/sctm.2012-0117 · Cited by 19 · see citing works
Sheng, J., Deng, H., Calhoun, V. D., & Wang, Y. (2011) · IEEE Transactions on Computational Biology and Bioinformatics · doi:10.1109/tcbb.2011.71 · Cited by 18 · see citing works
Cell models for Down syndrome-Alzheimer’s disease research
Wu, Y., West, N. R., Bhattacharyya, A., & Wiseman, F. K. (2022) · Neuronal Signaling · doi:10.1042/ns20210054 · Cited by 17 · see citing works
Recuperação pôndero-estatural em crianças com síndrome de Down e cardiopatia congênita
Bravo‐Valenzuela, N. J., Passarelli, M. L. B., Coates, V., & Nascimento, L. F. C. (2011) · Brazilian Journal of Cardiovascular Surgery · doi:10.1590/s0102-76382011000100013 · Cited by 17 · see citing works
Classifying carpets based on laser scanner data
Waegeman, W., Cottyn, J., Wyns, B., Boullart, L., Bernard De Baets, C., Langenhove, L. V., & Detand, J. (2007) · Engineering Applications of Artificial Intelligence · doi:10.1016/j.engappai.2007.07.010 · Cited by 16 · see citing works
Pecze, L., & Szabó, C. (2021) · Mitochondrion · doi:10.1016/j.mito.2020.12.017 · Cited by 15 · see citing works
Transcriptome Profiling Uncovers Potential Common Mechanisms in Fetal Trisomies 18 and 21
Volk, M., Maver, A., Hodžić, A., Lovrečić, L., & Peterlin, B. (2017) · OMICS A Journal of Integrative Biology · doi:10.1089/omi.2017.0123 · Cited by 15 · see citing works
- Authors
- Mao, R., Wang, X., Spitznagel, E. L., Frelin, L. P., Ting, J. C., Ding, H., Kim, J.-W., Ruczinski, I., Downey, T. J., & Pevsner, J.
- Affiliations
- Johns Hopkins University (US)
- Partek (United States) (US)
- Washington University in St. Louis (US)
- Kennedy Krieger Institute (US)
- Corresponding author
- Pevsner, Jonathan
- ORCID
- Venue
- Genome Biology
- Published
- 2005-12-16
- Volume
- 6
- Issue
- 13
- Pages
- R107-R107
- ISSN
- 1465-6906 (ISSN-L)
- 1474-760X
- PMC
- PMC1414106
- OpenAlex
- W2159929448
- Cited by
- 166
- References
- 58
- Citations by year
- 2025: 5 · 2024: 2 · 2023: 4 · 2022: 7 · 2021: 10 · 2020: 5 · 2019: 8 · 2018: 7 · 2017: 9 · 2016: 4 · 2015: 2 · 2014: 8 · 2013: 11 · 2012: 15
- FWCI
- 12.23
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Locations
- Genome biology (publishedVersion, cc-by)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Johns Hopkins University
- National Institutes of Health
- Johns Hopkins Bloomberg School of Public Health
- National Cancer Institute (CA074841, R29CA074841, R01CA074841)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (R01HD046598)
- Topics
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Down syndrome and intellectual disability research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Keywords
- Down syndrome, gene expression dysregulation, transcriptome, fetal cerebellum, fetal heart, tissue-specific gene expression, intellectual disability, differentially expressed genes
- MeSH terms
- Astrocytes, Cell Line, Chromosomes, Human, Pair 21, Down Syndrome, Fetus, Heart, Humans, Myocardium, RNA, Messenger, Telencephalon, Transcription, Genetic, Reproducibility of Results, Cluster Analysis, Gene Expression Regulation, Developmental, Principal Component Analysis, Microarray Analysis
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