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


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Disease relevance of Family


Psychiatry related information on Family


High impact information on Family

  • The discovery of new functions for the original B7 family members, together with the identification of additional B7 and CD28 family members, have revealed new ways in which the B7:CD28 family regulates T cell activation and tolerance [11].
  • TNF/TNFR family members in costimulation of T cell responses [12].
  • The effects of these costimulatory TNFR family members can often be functionally, temporally, or spatially segregated from those of CD28 and from each other [12].
  • Therefore, these CIS family members seem to function in a classical negative feedback loop of cytokine signaling [13].
  • In the presence of oxygen, HIFalpha family members are hydroxylated on one of two conserved prolyl residues by members of the egg-laying-defective nine (EGLN) family [14].

Chemical compound and disease context of Family


Biological context of Family


Anatomical context of Family


Associations of Family with chemical compounds

  • To address the biological functions of the Eph family member Nuk, two mutations in the mouse germline have been generated: a protein null allele (Nuk1) and an allele that encodes a Nuk-beta gal fusion receptor lacking the tyrosine kinase and C-terminal domains (Nuk(lacZ)) [30].
  • The "BH3-only" proapoptotic BCL-2 family members are sentinels of intracellular damage [31].
  • CcpA is a LacI-GalR family member that employs, as an allosteric corepressor, the phosphoprotein HPr-Ser46-P, which is formed in glucose-replete conditions [32].
  • We screened affected family members for mutations within CHRNA4 and found a missense mutation that replaces serine with phenylalanine at codon 248, a strongly conserved amino acid residue in the second transmembrane domain [33].
  • Compared to other CPEB family members, the neuronal protein has an N-terminal extension that shares characteristics of yeast prion-determinants: a high glutamine content and predicted conformational flexibility [34].

Gene context of Family


Analytical, diagnostic and therapeutic context of Family


  1. Decreased myocardial taurine levels and hypertaurinuria in a kindred with mitral-valve prolapse and congestive cardiomyopathy. Darsee, J.R., Heymsfield, S.B. N. Engl. J. Med. (1981) [Pubmed]
  2. A second Ewing's sarcoma translocation, t(21;22), fuses the EWS gene to another ETS-family transcription factor, ERG. Sorensen, P.H., Lessnick, S.L., Lopez-Terrada, D., Liu, X.F., Triche, T.J., Denny, C.T. Nat. Genet. (1994) [Pubmed]
  3. Cbfbeta interacts with Runx2 and has a critical role in bone development. Kundu, M., Javed, A., Jeon, J.P., Horner, A., Shum, L., Eckhaus, M., Muenke, M., Lian, J.B., Yang, Y., Nuckolls, G.H., Stein, G.S., Liu, P.P. Nat. Genet. (2002) [Pubmed]
  4. Costimulatory molecule-targeted antibody therapy of a spontaneous autoimmune disease. Sun, Y., Chen, H.M., Subudhi, S.K., Chen, J., Koka, R., Chen, L., Fu, Y.X. Nat. Med. (2002) [Pubmed]
  5. AID is required to initiate Nbs1/gamma-H2AX focus formation and mutations at sites of class switching. Petersen, S., Casellas, R., Reina-San-Martin, B., Chen, H.T., Difilippantonio, M.J., Wilson, P.C., Hanitsch, L., Celeste, A., Muramatsu, M., Pilch, D.R., Redon, C., Ried, T., Bonner, W.M., Honjo, T., Nussenzweig, M.C., Nussenzweig, A. Nature (2001) [Pubmed]
  6. IRAK-4: a novel member of the IRAK family with the properties of an IRAK-kinase. Li, S., Strelow, A., Fontana, E.J., Wesche, H. Proc. Natl. Acad. Sci. U.S.A. (2002) [Pubmed]
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  12. TNF/TNFR family members in costimulation of T cell responses. Watts, T.H. Annu. Rev. Immunol. (2005) [Pubmed]
  13. Negative regulation of cytokine signaling pathways. Yasukawa, H., Sasaki, A., Yoshimura, A. Annu. Rev. Immunol. (2000) [Pubmed]
  14. Proline hydroxylation and gene expression. Kaelin, W.G. Annu. Rev. Biochem. (2005) [Pubmed]
  15. Cyclosporin A-sensitive induction of the Epstein-Barr virus lytic switch is mediated via a novel pathway involving a MEF2 family member. Liu, S., Liu, P., Borras, A., Chatila, T., Speck, S.H. EMBO J. (1997) [Pubmed]
  16. Association of protein S deficiency with thrombosis in a kindred with increased levels of plasminogen activator inhibitor-1. Bolan, C.D., Krishnamurti, C., Tang, D.B., Carrington, L.R., Alving, B.M. Ann. Intern. Med. (1993) [Pubmed]
  17. Conjoint high triglycerides and low HDL cholesterol across generations. Analysis of proband hypertriglyceridemia and lipid/lipoprotein disorders in first-degree family members. Sprecher, D.L., Hein, M.J., Laskarzewski, P.M. Circulation (1994) [Pubmed]
  18. RGS4 inhibits G-protein signaling in cardiomyocytes. Tamirisa, P., Blumer, K.J., Muslin, A.J. Circulation (1999) [Pubmed]
  19. Marrow transplantation for severe aplastic anemia: methotrexate alone compared with a combination of methotrexate and cyclosporine for prevention of acute graft-versus-host disease. Storb, R., Deeg, H.J., Farewell, V., Doney, K., Appelbaum, F., Beatty, P., Bensinger, W., Buckner, C.D., Clift, R., Hansen, J. Blood (1986) [Pubmed]
  20. A new class of transcription factors mediates brassinosteroid-regulated gene expression in Arabidopsis. Yin, Y., Vafeados, D., Tao, Y., Yoshida, S., Asami, T., Chory, J. Cell (2005) [Pubmed]
  21. Differential requirements for Runx proteins in CD4 repression and epigenetic silencing during T lymphocyte development. Taniuchi, I., Osato, M., Egawa, T., Sunshine, M.J., Bae, S.C., Komori, T., Ito, Y., Littman, D.R. Cell (2002) [Pubmed]
  22. Dominant modifier DFNM1 suppresses recessive deafness DFNB26. Riazuddin, S., Castelein, C.M., Ahmed, Z.M., Lalwani, A.K., Mastroianni, M.A., Naz, S., Smith, T.N., Liburd, N.A., Friedman, T.B., Griffith, A.J., Riazuddin, S., Wilcox, E.R. Nat. Genet. (2000) [Pubmed]
  23. Serum ferritin as a possible marker of the hemochromatosis allele. Beaumont, C., Simon, M., Fauchet, R., Hespel, J.P., Brissot, P., Genetet, B., Bourel, M. N. Engl. J. Med. (1979) [Pubmed]
  24. A human MSX1 homeodomain missense mutation causes selective tooth agenesis. Vastardis, H., Karimbux, N., Guthua, S.W., Seidman, J.G., Seidman, C.E. Nat. Genet. (1996) [Pubmed]
  25. Vascular growth factors and lymphangiogenesis. Jussila, L., Alitalo, K. Physiol. Rev. (2002) [Pubmed]
  26. Mutation of the matrix metalloproteinase 2 gene (MMP2) causes a multicentric osteolysis and arthritis syndrome. Martignetti, J.A., Aqeel, A.A., Sewairi, W.A., Boumah, C.E., Kambouris, M., Mayouf, S.A., Sheth, K.V., Eid, W.A., Dowling, O., Harris, J., Glucksman, M.J., Bahabri, S., Meyer, B.F., Desnick, R.J. Nat. Genet. (2001) [Pubmed]
  27. Regulation of anterior/posterior patterning of the axial skeleton by growth/differentiation factor 11. McPherron, A.C., Lawler, A.M., Lee, S.J. Nat. Genet. (1999) [Pubmed]
  28. DOCK4, a GTPase activator, is disrupted during tumorigenesis. Yajnik, V., Paulding, C., Sordella, R., McClatchey, A.I., Saito, M., Wahrer, D.C., Reynolds, P., Bell, D.W., Lake, R., van den Heuvel, S., Settleman, J., Haber, D.A. Cell (2003) [Pubmed]
  29. Autoinhibition and activation mechanisms of the Wiskott-Aldrich syndrome protein. Kim, A.S., Kakalis, L.T., Abdul-Manan, N., Liu, G.A., Rosen, M.K. Nature (2000) [Pubmed]
  30. Nuk controls pathfinding of commissural axons in the mammalian central nervous system. Henkemeyer, M., Orioli, D., Henderson, J.T., Saxton, T.M., Roder, J., Pawson, T., Klein, R. Cell (1996) [Pubmed]
  31. Proapoptotic BID is an ATM effector in the DNA-damage response. Kamer, I., Sarig, R., Zaltsman, Y., Niv, H., Oberkovitz, G., Regev, L., Haimovich, G., Lerenthal, Y., Marcellus, R.C., Gross, A. Cell (2005) [Pubmed]
  32. Structural basis for allosteric control of the transcription regulator CcpA by the phosphoprotein HPr-Ser46-P. Schumacher, M.A., Allen, G.S., Diel, M., Seidel, G., Hillen, W., Brennan, R.G. Cell (2004) [Pubmed]
  33. A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy. Steinlein, O.K., Mulley, J.C., Propping, P., Wallace, R.H., Phillips, H.A., Sutherland, G.R., Scheffer, I.E., Berkovic, S.F. Nat. Genet. (1995) [Pubmed]
  34. A neuronal isoform of the aplysia CPEB has prion-like properties. Si, K., Lindquist, S., Kandel, E.R. Cell (2003) [Pubmed]
  35. Crystal structure of a truncated epidermal growth factor receptor extracellular domain bound to transforming growth factor alpha. Garrett, T.P., McKern, N.M., Lou, M., Elleman, T.C., Adams, T.E., Lovrecz, G.O., Zhu, H.J., Walker, F., Frenkel, M.J., Hoyne, P.A., Jorissen, R.N., Nice, E.C., Burgess, A.W., Ward, C.W. Cell (2002) [Pubmed]
  36. CDKN2A mutations in multiple primary melanomas. Monzon, J., Liu, L., Brill, H., Goldstein, A.M., Tucker, M.A., From, L., McLaughlin, J., Hogg, D., Lassam, N.J. N. Engl. J. Med. (1998) [Pubmed]
  37. Familial combined hyperlipidemia is associated with upstream transcription factor 1 (USF1). Pajukanta, P., Lilja, H.E., Sinsheimer, J.S., Cantor, R.M., Lusis, A.J., Gentile, M., Duan, X.J., Soro-Paavonen, A., Naukkarinen, J., Saarela, J., Laakso, M., Ehnholm, C., Taskinen, M.R., Peltonen, L. Nat. Genet. (2004) [Pubmed]
  38. An activating splice donor mutation in the thrombopoietin gene causes hereditary thrombocythaemia. Wiestner, A., Schlemper, R.J., van der Maas, A.P., Skoda, R.C. Nat. Genet. (1998) [Pubmed]
  39. Peg3/Pw1 is an imprinted gene involved in the TNF-NFkappaB signal transduction pathway. Relaix, F., Wei, X.J., Wu, X., Sassoon, D.A. Nat. Genet. (1998) [Pubmed]
  40. Echocardiographic findings in autosomal dominant polycystic kidney disease. Hossack, K.F., Leddy, C.L., Johnson, A.M., Schrier, R.W., Gabow, P.A. N. Engl. J. Med. (1988) [Pubmed]
  41. The B7 family member B7-H3 preferentially down-regulates T helper type 1-mediated immune responses. Suh, W.K., Gajewska, B.U., Okada, H., Gronski, M.A., Bertram, E.M., Dawicki, W., Duncan, G.S., Bukczynski, J., Plyte, S., Elia, A., Wakeham, A., Itie, A., Chung, S., Da Costa, J., Arya, S., Horan, T., Campbell, P., Gaida, K., Ohashi, P.S., Watts, T.H., Yoshinaga, S.K., Bray, M.R., Jordana, M., Mak, T.W. Nat. Immunol. (2003) [Pubmed]
  42. A point mutation in transthyretin increases affinity for thyroxine and produces euthyroid hyperthyroxinemia. Moses, A.C., Rosen, H.N., Moller, D.E., Tsuzaki, S., Haddow, J.E., Lawlor, J., Liepnieks, J.J., Nichols, W.C., Benson, M.D. J. Clin. Invest. (1990) [Pubmed]
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