The world's first wiki where authorship really matters (Nature Genetics, 2008). Due credit and reputation for authors. Imagine a global collaborative knowledge base for original thoughts. Search thousands of articles and collaborate with scientists around the globe.

wikigene or wiki gene protein drug chemical gene disease author authorship tracking collaborative publishing evolutionary knowledge reputation system wiki2.0 global collaboration genes proteins drugs chemicals diseases compound
Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
MeSH Review

Genetic Diseases, Inborn

Welcome! If you are familiar with the subject of this article, you can contribute to this open access knowledge base by deleting incorrect information, restructuring or completely rewriting any text. Read more.

Disease relevance of Genetic Diseases, Inborn


Psychiatry related information on Genetic Diseases, Inborn


High impact information on Genetic Diseases, Inborn


Chemical compound and disease context of Genetic Diseases, Inborn


Biological context of Genetic Diseases, Inborn


Anatomical context of Genetic Diseases, Inborn


Gene context of Genetic Diseases, Inborn


Analytical, diagnostic and therapeutic context of Genetic Diseases, Inborn


  1. The ubiquitin ligase activity in the DDB2 and CSA complexes is differentially regulated by the COP9 signalosome in response to DNA damage. Groisman, R., Polanowska, J., Kuraoka, I., Sawada, J., Saijo, M., Drapkin, R., Kisselev, A.F., Tanaka, K., Nakatani, Y. Cell (2003) [Pubmed]
  2. Activating Smoothened mutations in sporadic basal-cell carcinoma. Xie, J., Murone, M., Luoh, S.M., Ryan, A., Gu, Q., Zhang, C., Bonifas, J.M., Lam, C.W., Hynes, M., Goddard, A., Rosenthal, A., Epstein, E.H., de Sauvage, F.J. Nature (1998) [Pubmed]
  3. Repair of the secretion defect in the Z form of alpha 1-antitrypsin by addition of a second mutation. Brantly, M., Courtney, M., Crystal, R.G. Science (1988) [Pubmed]
  4. Simple non-invasive method to obtain DNA for gene analysis. Lench, N., Stanier, P., Williamson, R. Lancet (1988) [Pubmed]
  5. Recurrence risks in offspring of adults with major heart defects: results from first cohort of British collaborative study. Burn, J., Brennan, P., Little, J., Holloway, S., Coffey, R., Somerville, J., Dennis, N.R., Allan, L., Arnold, R., Deanfield, J.E., Godman, M., Houston, A., Keeton, B., Oakley, C., Scott, O., Silove, E., Wilkinson, J., Pembrey, M., Hunter, A.S. Lancet (1998) [Pubmed]
  6. Trinucleotide (CAG) repeat expansion in chromosomes of Spanish patients with Huntington's disease. Benitez, J., Fernandez, E., Garcia Ruiz, P., Robledo, M., Ramos, C., Yébenes, J. Hum. Genet. (1994) [Pubmed]
  7. Two Japanese CADASIL families with a R141C mutation in the Notch3 gene. Murakami, T., Iwatsuki, K., Hayashi, T., Sato, K., Matsubara, E., Nagano, I., Manabe, Y., Shoji, M., Abe, K. Intern. Med. (2001) [Pubmed]
  8. Tuberous sclerosis and pregnancy; report of a case with renal and pulmonary involvement. Borro, J.M., Morales, P., Baamonde, A. Eur. J. Obstet. Gynecol. Reprod. Biol. (1987) [Pubmed]
  9. Macular corneal dystrophy type I and type II are caused by distinct mutations in a new sulphotransferase gene. Akama, T.O., Nishida, K., Nakayama, J., Watanabe, H., Ozaki, K., Nakamura, T., Dota, A., Kawasaki, S., Inoue, Y., Maeda, N., Yamamoto, S., Fujiwara, T., Thonar, E.J., Shimomura, Y., Kinoshita, S., Tanigami, A., Fukuda, M.N. Nat. Genet. (2000) [Pubmed]
  10. Deficiency in cells expressing terminal transferase in autoimmune (motheaten) mice. Landreth, K.S., McCoy, K., Clagett, J., Bollum, F.J., Rosse, C. Nature (1981) [Pubmed]
  11. Mapping of a gene for severe pediatric gastroesophageal reflux to chromosome 13q14. Hu, F.Z., Preston, R.A., Post, J.C., White, G.J., Kikuchi, L.W., Wang, X., Leal, S.M., Levenstien, M.A., Ott, J., Self, T.W., Allen, G., Stiffler, R.S., McGraw, C., Pulsifer-Anderson, E.A., Ehrlich, G.D. JAMA (2000) [Pubmed]
  12. Ontogeny of GnRH and olfactory neuronal systems in man: novel insights from the investigation of inherited forms of Kallmann's syndrome. González-Martínez, D., Hu, Y., Bouloux, P.M. Frontiers in neuroendocrinology. (2004) [Pubmed]
  13. Dido gene expression alterations are implicated in the induction of hematological myeloid neoplasms. Fütterer, A., Campanero, M.R., Leonardo, E., Criado, L.M., Flores, J.M., Hernández, J.M., San Miguel, J.F., Martínez-A, C. J. Clin. Invest. (2005) [Pubmed]
  14. A panoramic view of gene expression in the human kidney. Chabardès-Garonne, D., Mejéan, A., Aude, J.C., Cheval, L., Di Stefano, A., Gaillard, M.C., Imbert-Teboul, M., Wittner, M., Balian, C., Anthouard, V., Robert, C., Ségurens, B., Wincker, P., Weissenbach, J., Doucet, A., Elalouf, J.M. Proc. Natl. Acad. Sci. U.S.A. (2003) [Pubmed]
  15. A Mendelian locus on chromosome 16 determines susceptibility to doxorubicin nephropathy in the mouse. Zheng, Z., Schmidt-Ott, K.M., Chua, S., Foster, K.A., Frankel, R.Z., Pavlidis, P., Barasch, J., D'Agati, V.D., Gharavi, A.G. Proc. Natl. Acad. Sci. U.S.A. (2005) [Pubmed]
  16. Recombination in Saccharomyces cerevisiae: a DNA repair mutation associated with elevated mitotic gene conversion. Boram, W.R., Roman, H. Proc. Natl. Acad. Sci. U.S.A. (1976) [Pubmed]
  17. Polymorphism, shared functions and convergent evolution of genes with sequences coding for polyalanine domains. Lavoie, H., Debeane, F., Trinh, Q.D., Turcotte, J.F., Corbeil-Girard, L.P., Dicaire, M.J., Saint-Denis, A., Pagé, M., Rouleau, G.A., Brais, B. Hum. Mol. Genet. (2003) [Pubmed]
  18. Microarrays and polyglutamine disorders: reports from the Hereditary Disease Array Group. Orr, H.T. Hum. Mol. Genet. (2002) [Pubmed]
  19. Chicken oocyte growth is mediated by an eight ligand binding repeat member of the LDL receptor family. Bujo, H., Hermann, M., Kaderli, M.O., Jacobsen, L., Sugawara, S., Nimpf, J., Yamamoto, T., Schneider, W.J. EMBO J. (1994) [Pubmed]
  20. Mismatch repair in Escherichia coli enhances instability of (CTG)n triplet repeats from human hereditary diseases. Jaworski, A., Rosche, W.A., Gellibolian, R., Kang, S., Shimizu, M., Bowater, R.P., Sinden, R.R., Wells, R.D. Proc. Natl. Acad. Sci. U.S.A. (1995) [Pubmed]
  21. Rad26, the yeast homolog of the cockayne syndrome B gene product, counteracts inhibition of DNA repair due to RNA polymerase II transcription. Tijsterman, M., Brouwer, J. J. Biol. Chem. (1999) [Pubmed]
  22. A novel germline mutation of PTEN associated with brain tumours of multiple lineages. Staal, F.J., van der Luijt, R.B., Baert, M.R., van Drunen, J., van Bakel, H., Peters, E., de Valk, I., van Amstel, H.K., Taphoorn, M.J., Jansen, G.H., van Veelen, C.W., Burgering, B., Staal, G.E. Br. J. Cancer (2002) [Pubmed]
  23. Cys611Ser mutation in RET proto-oncogene in a kindred with medullary thyroid carcinoma and Hirschsprung's disease. Nishikawa, M., Murakumo, Y., Imai, T., Kawai, K., Nagaya, M., Funahashi, H., Nakao, A., Takahashi, M. Eur. J. Hum. Genet. (2003) [Pubmed]
  24. A single chicken oocyte plasma membrane protein mediates uptake of very low density lipoprotein and vitellogenin. Stifani, S., Barber, D.L., Nimpf, J., Schneider, W.J. Proc. Natl. Acad. Sci. U.S.A. (1990) [Pubmed]
  25. Genetic correction of p67phox deficient chronic granulomatous disease using peripheral blood progenitor cells as a target for retrovirus mediated gene transfer. Weil, W.M., Linton, G.F., Whiting-Theobald, N., Vowells, S.J., Rafferty, S.P., Li, F., Malech, H.L. Blood (1997) [Pubmed]
  26. Regulation of ALK-1 signaling by the nuclear receptor LXRbeta. Mo, J., Fang, S.J., Chen, W., Blobe, G.C. J. Biol. Chem. (2002) [Pubmed]
  27. Quantitative determination of 8-hydroxy-2'-deoxyguanosine in human urine by isotope dilution mass spectrometry: normal levels in hemochromatosis. Holmberg, I., Stål, P., Hamberg, M. Free Radic. Biol. Med. (1999) [Pubmed]
  28. In vivo evaluation of the safety of adenovirus-mediated transfer of the human cystic fibrosis transmembrane conductance regulator cDNA to the lung. Yei, S., Mittereder, N., Wert, S., Whitsett, J.A., Wilmott, R.W., Trapnell, B.C. Hum. Gene Ther. (1994) [Pubmed]
  29. Hypertension in the syndrome of apparent mineralocorticoid excess due to mutation of the 11 beta-hydroxysteroid dehydrogenase type 2 gene. Stewart, P.M., Krozowski, Z.S., Gupta, A., Milford, D.V., Howie, A.J., Sheppard, M.C., Whorwood, C.B. Lancet (1996) [Pubmed]
  30. A single viral protein HCMV US2 affects antigen presentation and intracellular iron homeostasis by degradation of classical HLA class I and HFE molecules. Vahdati-Ben Arieh, S., Laham, N., Schechter, C., Yewdell, J.W., Coligan, J.E., Ehrlich, R. Blood (2003) [Pubmed]
  31. Prestin, a cochlear motor protein, is defective in non-syndromic hearing loss. Liu, X.Z., Ouyang, X.M., Xia, X.J., Zheng, J., Pandya, A., Li, F., Du, L.L., Welch, K.O., Petit, C., Smith, R.J., Webb, B.T., Yan, D., Arnos, K.S., Corey, D., Dallos, P., Nance, W.E., Chen, Z.Y. Hum. Mol. Genet. (2003) [Pubmed]
  32. Functional brain activation during arithmetic processing in females with fragile X Syndrome is related to FMR1 protein expression. Rivera, S.M., Menon, V., White, C.D., Glaser, B., Reiss, A.L. Human brain mapping. (2002) [Pubmed]
  33. A nonsense mutation (TGG [Trp116]-->TAG [Stop]) in CYP11B1 causes steroid 11 beta-hydroxylase deficiency. Naiki, Y., Kawamoto, T., Mitsuuchi, Y., Miyahara, K., Toda, K., Orii, T., Imura, H., Shizuta, Y. J. Clin. Endocrinol. Metab. (1993) [Pubmed]
  34. The Walker 256 carcinoma: a cell type inherently sensitive only to those difunctional agents that can form DNA interstrand crosslinks. Knox, R.J., Lydall, D.A., Friedlos, F., Basham, C., Rawlings, C.J., Roberts, J.J. Mutat. Res. (1991) [Pubmed]
  35. Hereditary disorders of purine and pyrimidine metabolism: identification of their biochemical phenotypes in the clinical laboratory. Valik, D., Jones, J.D. Mayo Clin. Proc. (1997) [Pubmed]
  36. Detection of fetal DNA in trans-cervical swabs from first trimester pregnancies by gene amplification: a new route to prenatal diagnosis? Griffith-Jones, M.D., Miller, D., Lilford, R.J., Scott, J., Bulmer, J. British journal of obstetrics and gynaecology. (1992) [Pubmed]
  37. Gene therapy for optic nerve disease. Martin, K.R., Quigley, H.A. Eye (London, England) (2004) [Pubmed]
  38. The multidrug-resistance gene in gene therapy of cancer and hematopoietic disorders. Licht, T., Pastan, I., Gottesman, M.M., Herrmann, F. Ann. Hematol. (1996) [Pubmed]
WikiGenes - Universities