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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
MeSH Review

Down Syndrome

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Disease relevance of Down Syndrome


Psychiatry related information on Down Syndrome


High impact information on Down Syndrome


Chemical compound and disease context of Down Syndrome


Biological context of Down Syndrome


Anatomical context of Down Syndrome


Gene context of Down Syndrome

  • Immunocytochemical studies of brain tissue from 26 patients with Down's syndrome showed that the deposition of A4 protein amyloid began in these patients approximately 50 years earlier than it began in 127 normal aging subjects studied previously, although the rate of deposition was the same [15].
  • Our results indicate that Ets2 has a role in skeletal development and implicate the overexpression of Ets2 in the genesis of some skeletal abnormalities that occur in Down's syndrome [27].
  • The frequencies of the MTHFR 677C-->T and MTRR 66A-->G mutations were evaluated in DNA samples from 157 mothers of children with Down syndrome and 144 control mothers [28].
  • Intrigued by a possible association between a Down's syndrome gene and solid tumors, we monitored SIM2 expression in solid tumors [29].
  • Moreover, humans with life-long elevation of brain and peripheral Abeta (e.g., patients with presenilin mutations or Down syndrome) could have reduced immune responses to Abeta vaccination [30].

Analytical, diagnostic and therapeutic context of Down Syndrome


  1. Frequency of Down's syndrome and neural-tube defects in the same family. Barkai, G., Arbuzova, S., Berkenstadt, M., Heifetz, S., Cuckle, H. Lancet (2003) [Pubmed]
  2. Developmental genetics of the heart. Burn, J., Goodship, J. Curr. Opin. Genet. Dev. (1996) [Pubmed]
  3. Is absence of atheroma in Down syndrome due to decreased homocysteine levels? Chadefaux, B., Ceballos, I., Hamet, M., Coude, M., Poissonnier, M., Kamoun, P., Allard, D. Lancet (1988) [Pubmed]
  4. UCLA conference. Interferon: immunobiology and clinical significance. Stiehm, E.R., Kronenberg, L.H., Rosenblatt, H.M., Bryson, Y., Merigan, T.C. Ann. Intern. Med. (1982) [Pubmed]
  5. Amyloid plaque core protein in Alzheimer disease and Down syndrome. Masters, C.L., Simms, G., Weinman, N.A., Multhaup, G., McDonald, B.L., Beyreuther, K. Proc. Natl. Acad. Sci. U.S.A. (1985) [Pubmed]
  6. Introduction and expression of the 400 kilobase amyloid precursor protein gene in transgenic mice [corrected]. Lamb, B.T., Sisodia, S.S., Lawler, A.M., Slunt, H.H., Kitt, C.A., Kearns, W.G., Pearson, P.L., Price, D.L., Gearhart, J.D. Nat. Genet. (1993) [Pubmed]
  7. Defective gallium-transferrin binding in Alzheimer disease and Down syndrome: possible mechanism for accumulation of aluminium in brain. Farrar, G., Altmann, P., Welch, S., Wychrij, O., Ghose, B., Lejeune, J., Corbett, J., Prasher, V., Blair, J.A. Lancet (1990) [Pubmed]
  8. Mild impairment of learning and memory in mice overexpressing the mSim2 gene located on chromosome 16: an animal model of Down's syndrome. Ema, M., Ikegami, S., Hosoya, T., Mimura, J., Ohtani, H., Nakao, K., Inokuchi, K., Katsuki, M., Fujii-Kuriyama, Y. Hum. Mol. Genet. (1999) [Pubmed]
  9. Tau antisera recognize neurofibrillary tangles in a range of neurodegenerative disorders. Joachim, C.L., Morris, J.H., Kosik, K.S., Selkoe, D.J. Ann. Neurol. (1987) [Pubmed]
  10. Psychiatric disorder and the broad autism phenotype: evidence from a family study of multiple-incidence autism families. Piven, J., Palmer, P. The American journal of psychiatry. (1999) [Pubmed]
  11. Acquired mutations in GATA1 in the megakaryoblastic leukemia of Down syndrome. Wechsler, J., Greene, M., McDevitt, M.A., Anastasi, J., Karp, J.E., Le Beau, M.M., Crispino, J.D. Nat. Genet. (2002) [Pubmed]
  12. Functional screening of 2 Mb of human chromosome 21q22.2 in transgenic mice implicates minibrain in learning defects associated with Down syndrome. Smith, D.J., Stevens, M.E., Sudanagunta, S.P., Bronson, R.T., Makhinson, M., Watabe, A.M., O'Dell, T.J., Fung, J., Weier, H.U., Cheng, J.F., Rubin, E.M. Nat. Genet. (1997) [Pubmed]
  13. Dimeric inhibin A as a marker for Down's syndrome in early pregnancy. Aitken, D.A., Wallace, E.M., Crossley, J.A., Swanston, I.A., van Pareren, Y., van Maarle, M., Groome, N.P., Macri, J.N., Connor, J.M. N. Engl. J. Med. (1996) [Pubmed]
  14. Single-minded and Down syndrome? Chen, H., Chrast, R., Rossier, C., Gos, A., Antonarakis, S.E., Kudoh, J., Yamaki, A., Shindoh, N., Maeda, H., Minoshima, S. Nat. Genet. (1995) [Pubmed]
  15. Amyloid A4 protein and its precursor in Down's syndrome and Alzheimer's disease. Rumble, B., Retallack, R., Hilbich, C., Simms, G., Multhaup, G., Martins, R., Hockey, A., Montgomery, P., Beyreuther, K., Masters, C.L. N. Engl. J. Med. (1989) [Pubmed]
  16. Prenatal screening for Down's syndrome with use of maternal serum markers. Haddow, J.E., Palomaki, G.E., Knight, G.J., Williams, J., Pulkkinen, A., Canick, J.A., Saller, D.N., Bowers, G.B. N. Engl. J. Med. (1992) [Pubmed]
  17. Down's syndrome in adults: brain metabolism. Schwartz, M., Duara, R., Haxby, J., Grady, C., White, B.J., Kessler, R.M., Kay, A.D., Cutler, N.R., Rapoport, S.I. Science (1983) [Pubmed]
  18. Polyol profiles in Down syndrome. myo-Inositol, specifically, is elevated in the cerebrospinal fluid. Shetty, H.U., Schapiro, M.B., Holloway, H.W., Rapoport, S.I. J. Clin. Invest. (1995) [Pubmed]
  19. Response of hematopoietic cell lines derived from patients with Down's syndrome and from normal individuals to mitomycin C and caffeine. Banerjee, A., Jung, O., Huang, C.C. J. Natl. Cancer Inst. (1977) [Pubmed]
  20. Down's syndrome: abnormal neuromuscular junction in tongue of transgenic mice with elevated levels of human Cu/Zn-superoxide dismutase. Avraham, K.B., Schickler, M., Sapoznikov, D., Yarom, R., Groner, Y. Cell (1988) [Pubmed]
  21. beta-Amyloid precursor protein metabolites and loss of neuronal Ca2+ homeostasis in Alzheimer's disease. Mattson, M.P., Barger, S.W., Cheng, B., Lieberburg, I., Smith-Swintosky, V.L., Rydel, R.E. Trends Neurosci. (1993) [Pubmed]
  22. p493F12 kinase: a novel MAP kinase expressed in a subset of neurons in the human nervous system. Mohit, A.A., Martin, J.H., Miller, C.A. Neuron (1995) [Pubmed]
  23. Protease nexin-II, a potent antichymotrypsin, shows identity to amyloid beta-protein precursor. Van Nostrand, W.E., Wagner, S.L., Suzuki, M., Choi, B.H., Farrow, J.S., Geddes, J.W., Cotman, C.W., Cunningham, D.D. Nature (1989) [Pubmed]
  24. Drosophila Dscam is required for divergent segregation of sister branches and suppresses ectopic bifurcation of axons. Wang, J., Zugates, C.T., Liang, I.H., Lee, C.H., Lee, T. Neuron (2002) [Pubmed]
  25. Amniotic fluid AFP levels and Down syndrome. Cuckle, H.S., Wald, N.J., Lindenbaum, R.H., Jonasson, J. Lancet (1985) [Pubmed]
  26. Molecular misreading of the ubiquitin B gene and hepatic mallory body formation. McPhaul, L.W., Wang, J., Hol, E.M., Sonnemans, M.A., Riley, N., Nguyen, V., Yuan, Q.X., Lue, Y.H., Van Leeuwen, F.W., French, S.W. Gastroenterology (2002) [Pubmed]
  27. Down's syndrome-like skeletal abnormalities in Ets2 transgenic mice. Sumarsono, S.H., Wilson, T.J., Tymms, M.J., Venter, D.J., Corrick, C.M., Kola, R., Lahoud, M.H., Papas, T.S., Seth, A., Kola, I. Nature (1996) [Pubmed]
  28. Polymorphisms in genes involved in folate metabolism as maternal risk factors for Down syndrome. Hobbs, C.A., Sherman, S.L., Yi, P., Hopkins, S.E., Torfs, C.P., Hine, R.J., Pogribna, M., Rozen, R., James, S.J. Am. J. Hum. Genet. (2000) [Pubmed]
  29. Identification of Down's syndrome critical locus gene SIM2-s as a drug therapy target for solid tumors. DeYoung, M.P., Tress, M., Narayanan, R. Proc. Natl. Acad. Sci. U.S.A. (2003) [Pubmed]
  30. Immune hyporesponsiveness to amyloid beta-peptide in amyloid precursor protein transgenic mice: implications for the pathogenesis and treatment of Alzheimer's disease. Monsonego, A., Maron, R., Zota, V., Selkoe, D.J., Weiner, H.L. Proc. Natl. Acad. Sci. U.S.A. (2001) [Pubmed]
  31. Screening for fetal Down's syndrome in pregnancy by measuring maternal serum alpha-fetoprotein levels. DiMaio, M.S., Baumgarten, A., Greenstein, R.M., Saal, H.M., Mahoney, M.J. N. Engl. J. Med. (1987) [Pubmed]
  32. Mouse model of neurodegeneration: atrophy of basal forebrain cholinergic neurons in trisomy 16 transplants. Holtzman, D.M., Li, Y.W., DeArmond, S.J., McKinley, M.P., Gage, F.H., Epstein, C.J., Mobley, W.C. Proc. Natl. Acad. Sci. U.S.A. (1992) [Pubmed]
  33. Cerebral cortical astroglia from the trisomy 16 mouse, a model for down syndrome, produce neuronal cholinergic deficits in cell culture. Nelson, P.G., Fitzgerald, S., Rapoport, S.I., Neale, E.A., Galdzicki, Z., Dunlap, V., Bowers, L., v Agoston, D. Proc. Natl. Acad. Sci. U.S.A. (1997) [Pubmed]
  34. Elevated levels of an exocrine pancreatic secretory protein in Alzheimer disease brain. Ozturk, M., de la Monte, S.M., Gross, J., Wands, J.R. Proc. Natl. Acad. Sci. U.S.A. (1989) [Pubmed]
  35. Quantitative analysis of senile plaques in Alzheimer disease: observation of log-normal size distribution and molecular epidemiology of differences associated with apolipoprotein E genotype and trisomy 21 (Down syndrome). Hyman, B.T., West, H.L., Rebeck, G.W., Buldyrev, S.V., Mantegna, R.N., Ukleja, M., Havlin, S., Stanley, H.E. Proc. Natl. Acad. Sci. U.S.A. (1995) [Pubmed]
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