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

Deficiency Diseases

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Disease relevance of Deficiency Diseases


High impact information on Deficiency Diseases


Chemical compound and disease context of Deficiency Diseases


Biological context of Deficiency Diseases

  • Subsequently Xpa and Xpc knockouts have proved to be good models for the human NER deficiency disease, xeroderma pigmentosum, leading to speculation that the recombination, rather than the NER deficit is the key to the Ercc1 knockout phenotype [16].
  • Results showed that chicks were protected from the vitamin E-selenium deficiency disease exudative diathesis (ED) by a high dietary level of vitamin A (1.0 X 10(6) IU/kg) which moderately depressed growth [17].
  • The immunodeficiency, centromeric region instability, facial anomalies (ICF) syndrome, a rare recessive DNA methyltransferase deficiency disease, results in a small decrease in the extent of global genomic methylation [18].
  • However, ageist and sexist assumptions have distorted society's perceptions so that the menopause has come to be viewed as a "deficiency disease," best treated through the routine prescription of estrogen replacement therapy [19].

Anatomical context of Deficiency Diseases


Gene context of Deficiency Diseases


Analytical, diagnostic and therapeutic context of Deficiency Diseases


  1. Pharmacologic rescue of lethal seizures in mice deficient in succinate semialdehyde dehydrogenase. Hogema, B.M., Gupta, M., Senephansiri, H., Burlingame, T.G., Taylor, M., Jakobs, C., Schutgens, R.B., Froestl, W., Snead, O.C., Diaz-Arrastia, R., Bottiglieri, T., Grompe, M., Gibson, K.M. Nat. Genet. (2001) [Pubmed]
  2. Progesterone as a bone-trophic hormone. Prior, J.C. Endocr. Rev. (1990) [Pubmed]
  3. The xeroderma pigmentosum group E gene product DDB2 is a specific target of cullin 4A in mammalian cells. Nag, A., Bondar, T., Shiv, S., Raychaudhuri, P. Mol. Cell. Biol. (2001) [Pubmed]
  4. A highly conserved endonuclease activity present in Escherichia coli, bovine, and human cells recognizes oxidative DNA damage at sites of pyrimidines. Doetsch, P.W., Henner, W.D., Cunningham, R.P., Toney, J.H., Helland, D.E. Mol. Cell. Biol. (1987) [Pubmed]
  5. Is peptic ulcer a prostaglandin deficiency disease? Dajani, E.Z. Hum. Pathol. (1986) [Pubmed]
  6. Abnormal spontaneous rosette formation and rosette inhibition in lung carcinoma. Gross, R.L., Latty, A., Williams, E.A., Newberne, P.M. N. Engl. J. Med. (1975) [Pubmed]
  7. Early pre-B cells from normal and X-linked agammaglobulinaemia produce C mu without an attached VH region. Schwaber, J., Molgaard, H., Orkin, S.H., Gould, H.J., Rosen, F.S. Nature (1983) [Pubmed]
  8. Dominant-negative mutants of a platelet-derived growth factor gene. Mercola, M., Deininger, P.L., Shamah, S.M., Porter, J., Wang, C.Y., Stiles, C.D. Genes Dev. (1990) [Pubmed]
  9. Mitochondrial basis for immune deficiency. Evidence from purine nucleoside phosphorylase-deficient mice. Arpaia, E., Benveniste, P., Di Cristofano, A., Gu, Y., Dalal, I., Kelly, S., Hershfield, M., Pandolfi, P.P., Roifman, C.M., Cohen, A. J. Exp. Med. (2000) [Pubmed]
  10. T cell lines characterize events in the pathogenesis of the Wiskott-Aldrich syndrome. Molina, I.J., Kenney, D.M., Rosen, F.S., Remold-O'Donnell, E. J. Exp. Med. (1992) [Pubmed]
  11. Monoamine oxidase deficiency in males with an X chromosome deletion. Sims, K.B., de la Chapelle, A., Norio, R., Sankila, E.M., Hsu, Y.P., Rinehart, W.B., Corey, T.J., Ozelius, L., Powell, J.F., Bruns, G. Neuron (1989) [Pubmed]
  12. Schizophrenia as a prostaglandin deficiency disease. Turner, P. Lancet (1977) [Pubmed]
  13. Ascorbic acid and in situ kinetics: a new approach to vitamin requirements. Levine, M., Dhariwal, K.R., Washko, P.W., Butler, J.D., Welch, R.W., Wang, Y.H., Bergsten, P. Am. J. Clin. Nutr. (1991) [Pubmed]
  14. Selenium intake and metabolic balance of 10 men from a low selenium area of China. Luo, X.M., Wei, H.J., Yang, C.L., Xing, J., Qiao, C.H., Feng, Y.M., Liu, J., Liu, Z., Wu, Q., Liu, Y.X. Am. J. Clin. Nutr. (1985) [Pubmed]
  15. The role of peroxisomes in cholesterol metabolism. Krisans, S.K. Am. J. Respir. Cell Mol. Biol. (1992) [Pubmed]
  16. DNA repair gene Ercc1 is essential for normal spermatogenesis and oogenesis and for functional integrity of germ cell DNA in the mouse. Hsia, K.T., Millar, M.R., King, S., Selfridge, J., Redhead, N.J., Melton, D.W., Saunders, P.T. Development (2003) [Pubmed]
  17. Differential effects of high dietary levels of vitamin A on the vitamin E-selenium nutrition of young and adult chickens. Combs, G.F. J. Nutr. (1976) [Pubmed]
  18. DNA hypomethylation, cancer, the immunodeficiency, centromeric region instability, facial anomalies syndrome and chromosomal rearrangements. Ehrlich, M. J. Nutr. (2002) [Pubmed]
  19. The adaptive function of the menopause: a devil's advocate position. Alington-MacKinnon, D., Troll, L.E. Journal of the American Geriatrics Society. (1981) [Pubmed]
  20. Defective actin reorganization and polymerization of Wiskott-Aldrich T cells in response to CD3-mediated stimulation. Gallego, M.D., Santamaría, M., Peña, J., Molina, I.J. Blood (1997) [Pubmed]
  21. Central role of peroxisomes in isoprenoid biosynthesis. Kovacs, W.J., Olivier, L.M., Krisans, S.K. Prog. Lipid Res. (2002) [Pubmed]
  22. Bone marrow transplantation for severe combined immune deficiency in an infant with chimerism due to intrauterine-derived maternal lymphocytes: donor engraftment documented by chromosomal marker studies. Borzy, M.S., Magenis, E., Tomar, D. Am. J. Med. Genet. (1984) [Pubmed]
  23. Natural cytotoxicity in immunodeficiency diseases: preservation of natural killer activity and the in vivo appearance of radioresistant killing. Pierce, G.F., Polmar, S.H., Schacter, B.Z., Brovall, C., Hornick, D.L., Sorensen, R.U. Hum. Immunol. (1986) [Pubmed]
  24. Deficiency of protein C inhibitor in combined factor V/VIII deficiency disease. Marlar, R.A., Griffin, J.H. J. Clin. Invest. (1980) [Pubmed]
  25. The naturally occurring mutants of DDB are impaired in stimulating nuclear import of the p125 subunit and E2F1-activated transcription. Shiyanov, P., Hayes, S.A., Donepudi, M., Nichols, A.F., Linn, S., Slagle, B.L., Raychaudhuri, P. Mol. Cell. Biol. (1999) [Pubmed]
  26. Adiponectin stimulates angiogenesis in response to tissue ischemia through stimulation of amp-activated protein kinase signaling. Shibata, R., Ouchi, N., Kihara, S., Sato, K., Funahashi, T., Walsh, K. J. Biol. Chem. (2004) [Pubmed]
  27. Primary defect in CD8+ lymphocytes in the antibody deficiency disease (common variable immunodeficiency): abnormalities in intracellular production of interferon-gamma (IFN-gamma) in CD28+ ('cytotoxic') and CD28- ('suppressor') CD8+ subsets. North, M.E., Webster, A.D., Farrant, J. Clin. Exp. Immunol. (1998) [Pubmed]
  28. The 1.9 A structure of alpha-N-acetylgalactosaminidase: molecular basis of glycosidase deficiency diseases. Garman, S.C., Hannick, L., Zhu, A., Garboczi, D.N. Structure (Camb.) (2002) [Pubmed]
  29. Isoflavones extracted from Sophorae fructus upregulate IGF-I and TGF-beta and inhibit osteoclastogenesis in rat bone marrow cells. Joo, S.S., Won, T.J., Kang, H.C., Lee, D.I. Arch. Pharm. Res. (2004) [Pubmed]
  30. Mammalian alpha 1-antitrypsins: comparative biochemistry and genetics of the major plasma serpin. Patterson, S.D. Comp. Biochem. Physiol., B (1991) [Pubmed]
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