Crossref journal-article
Springer Science and Business Media LLC
Nature Genetics (297)
Bibliography

Paloneva, J., Kestilä, M., Wu, J., Salminen, A., Böhling, T., Ruotsalainen, V., Hakola, P., Bakker, A. B. H., Phillips, J. H., Pekkarinen, P., Lanier, L. L., Timonen, T., & Peltonen, L. (2000). Loss-of-function mutations in TYROBP (DAP12) result in a presenile dementia with bone cysts. Nature Genetics, 25(3), 357–361.

Authors 13
  1. Juha Paloneva (first)
  2. Marjo Kestilä (additional)
  3. Jun Wu (additional)
  4. Antti Salminen (additional)
  5. Tom Böhling (additional)
  6. Vesa Ruotsalainen (additional)
  7. Panu Hakola (additional)
  8. Alexander B.H. Bakker (additional)
  9. Joseph H. Phillips (additional)
  10. Petra Pekkarinen (additional)
  11. Lewis L. Lanier (additional)
  12. Tuomo Timonen (additional)
  13. Leena Peltonen (additional)
References 30 Referenced 388
  1. Hakola, H.P.A. Neuropsychiatric and genetic aspects of a new hereditary disease characterized by progressive dementia and lipomembranous polycystic osteodysplasia. Acta Psychiatr. Scand. Suppl. 232, 1–173 (1972). / Acta Psychiatr. Scand. Suppl. by HPA Hakola (1972)
  2. Hakola, H.P.A. Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (membranous lipodystrophy). A neuropsychiatric follow-up study. (monograph 17) in Monographs of Psychiatria Fennica (eds Henriksson, M., Huttunen, M., Kuoppasalmi, K., Lindfors, O. & Lönnqvist, J.) 1–114 (Foundation for Psychiatric Research in Finland, Helsinki, 1990). / Monographs of Psychiatria Fennica by HPA Hakola (1990)
  3. Verloes, A. et al. Nasu-Hakola syndrome: polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy and presenile dementia. J. Med. Genet. 34, 753–757 (1997). (10.1136/jmg.34.9.753) / J. Med. Genet. by A Verloes (1997)
  4. Peltonen, L., Jalanko, A. & Varilo, T. Molecular genetics of the Finnish disease heritage. Hum. Mol. Genet. 8, 1913–1923 (1999). (10.1093/hmg/8.10.1913) / Hum. Mol. Genet. by L Peltonen (1999)
  5. Pekkarinen, P. et al. Assignment of the locus for PLOSL, a frontal-lobe dementia with bone cysts, to 19q13. Am. J. Hum. Genet. 62, 362–372 (1998). (10.1086/301722) / Am. J. Hum. Genet. by P Pekkarinen (1998)
  6. Pekkarinen, P. et al. Fine-scale mapping of a novel dementia gene, PLOSL, by linkage disequilibrium. Genomics 54, 307–315 (1998). (10.1006/geno.1998.5591) / Genomics by P Pekkarinen (1998)
  7. Lanier, L.L., Corliss, B.C., Wu, J., Leong, C. & Phillips, J.H. Immunoreceptor DAP12 bearing a tyrosine-based activation motif is involved in activating NK cells. Nature 391, 703–707 (1998). (10.1038/35642) / Nature by LL Lanier (1998)
  8. Colonna, M. Unmasking the killer's accompliance. Nature 391, 642–643 (1998). (10.1038/35515) / Nature by M Colonna (1998)
  9. Campbell, K.S. & Colonna, M. DAP12: a key accessory protein for relaying signals by natural killer cell receptors. Int. J. Biochem. Cell Biol. 31, 631–636 (1999). (10.1016/S1357-2725(99)00022-9) / Int. J. Biochem. Cell Biol. by KS Campbell (1999)
  10. Lenkkeri, U. et al. Structure of the human amyloid-precursor-like protein gene APLP1 at 19q13.1. Hum. Genet. 102, 192–196 (1998). (10.1007/s004390050676) / Hum. Genet. by U Lenkkeri (1998)
  11. Wu, J. et al. An activating immunoreceptor complex formed by NKG2D and DAP10. Science 258, 730–732 (1999). (10.1126/science.285.5428.730) / Science by J Wu (1999)
  12. Chang, C.W. et al. KAP10, a novel transmembrane adapter protein genetically linked to DAP12 but with unique signaling properties. J. Immunol. 163, 4651–4654 (1999). (10.4049/jimmunol.163.9.4651) / J. Immunol. by CW Chang (1999)
  13. Kestila, M. et al. Positionally cloned gene for a novel glomerular protein—nephrin—is mutated in congenital nephrotic syndrome. Mol. Cell 1, 575–582 (1998). (10.1016/S1097-2765(00)80057-X) / Mol. Cell by M Kestila (1998)
  14. Nylander, P.-O., Drugge, U., Holmgren, G. & Adolfsson, R. Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLO-SL): a geneological study of Swedish families of probable Finnish background. Clin. Genet. 50, 353–357 (1996). (10.1111/j.1399-0004.1996.tb02387.x) / Clin. Genet. by P-O Nylander (1996)
  15. McVicar, D.W. et al. DAP12-mediated signal transduction in natural killer cells. A dominant role for the Syk protein-tyrosine kinase. J. Biol. Chem. 273, 32934–32942 (1998). (10.1074/jbc.273.49.32934) / J. Biol. Chem. by DW McVicar (1998)
  16. Bakker, A.B.H., Baker, E., Sutherland, G.R., Phillips, J.H. & Lanier, L.L. Myeloid DAP12-associating lectin (MDL)-1 is a cell surface receptor involved in the activation of myeloid cells. Proc. Natl Acad. Sci. USA 96, 9792–9796 (1999). (10.1073/pnas.96.17.9792) / Proc. Natl Acad. Sci. USA by ABH Bakker (1999)
  17. Lanier, L.L., Corliss, B., Wu, J. & Phillips, J.H. Association of DAP12 with activating CD94/NKG2C NK cell receptors. Immunity 8, 693–701 (1998). (10.1016/S1074-7613(00)80574-9) / Immunity by LL Lanier (1998)
  18. Smith, K.M., Wu, J., Bakker, A.B., Phillips, J.H. & Lanier, L.L. Ly-49D and Ly-49H associates with mouse DAP12 and form activating receptors. J. Immunol. 161, 7–10 (1998). (10.4049/jimmunol.161.1.7) / J. Immunol. by KM Smith (1998)
  19. Edvardsen, P., Halvorsen, T.B. & Nesse, O. Lipomembranous osteodysplasia: a case report. Int. Orthop. 7, 99–103 (1983). (10.1007/BF00266458) / Int. Orthop. by P Edvardsen (1983)
  20. Dietrich, J., Cella, M., Seiffert, M., Bühring, H.-J. & Colonna, M. Signal-regulatory protein β1 is a DAP12-associated activating receptor expressed in myeloid cells. J. Immunol. 164, 9–12 (2000). (10.4049/jimmunol.164.1.9) / J. Immunol. by J Dietrich (2000)
  21. Abramsky, O. et al. A Dissection and Tissue Culture Manual of the Nervous System (eds Shahar, A., de Vellis, J., Vernadakis, A. & Haber, B.) 1–371 (Alan R. Liss, New York, 1989). / A Dissection and Tissue Culture Manual of the Nervous System by O Abramsky (1989)
  22. Rolstad, B. & Seaman, W.E. Natural killer cells and recognition of MHC class I molecules: new perspectives and challenges in immunology. Scand. J. Immunol. 47, 412–425 (1998). (10.1046/j.1365-3083.1998.00358.x) / Scand. J. Immunol. by B Rolstad (1998)
  23. Cuadros, M.A. & Navascues, J. The origin and differentiation of microglial cells during development. Prog. Neurobiol. 56, 173–189 (1998). (10.1016/S0301-0082(98)00035-5) / Prog. Neurobiol. by MA Cuadros (1998)
  24. Heymann, D., Guicheux, J., Gouin, F., Passuti, N. & Daculsi, G. Cytokines, growth factors and osteoclasts. Cytokine 10, 155–168 (1998). (10.1006/cyto.1997.0277) / Cytokine by D Heymann (1998)
  25. Harris, N.L. Genotator: a workbench for sequence annotation. Genome Res. 7, 754–762 (1997). (10.1101/gr.7.7.754) / Genome Res. by NL Harris (1997)
  26. Burge, C. & Karlin, S. Prediction of complete gene structures in human genomic DNA. J. Mol. Biol. 268, 78–94 (1997). (10.1006/jmbi.1997.0951) / J. Mol. Biol. by C Burge (1997)
  27. Sambrook, J., Fritsch, E.F. & Maniatis, T. Molecular Cloning, A Laboratory Manual (ed. Nolan, C) (Cold Spring Harbor Laboratory Press, New York, 1989). / Molecular Cloning, A Laboratory Manual by J Sambrook (1989)
  28. Nasu, T., Tsukahara, Y. & Terayama, K. A lipid metabolic disease—“membranous lipodystrophy”—an autopsy case demonstrating numerous peculiar membrane-structures composed of compound lipid in bone and bone marrow and various adipose tissues. Acta Pathol. Jpn. 23, 539–558 (1973). / Acta Pathol. Jpn. by T Nasu (1973)
  29. Mäkelä, P., Järvi, O., Hakola, P. & Virtama, P. Radiologic bone changes of polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy. Skeletal Radiol. 8, 51–54 (1982). (10.1007/BF00361370) / Skeletal Radiol. by P Mäkelä (1982)
  30. Kalimo, H., Sourander, P., Järvi, O. & Hakola, P. Vascular changes and blood-brain barrier damage in the pathogenesis of polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (membranous lipodystrophy). Acta Neurol. Scand. 89, 353–361 (1994). (10.1111/j.1600-0404.1994.tb02646.x) / Acta Neurol. Scand. by H Kalimo (1994)
Dates
Type When
Created 23 years, 1 month ago (July 26, 2002, 4:50 a.m.)
Deposited 2 years, 3 months ago (May 18, 2023, 4:43 p.m.)
Indexed 1 month ago (July 24, 2025, 7:01 a.m.)
Issued 25 years, 1 month ago (July 1, 2000)
Published 25 years, 1 month ago (July 1, 2000)
Published Print 25 years, 1 month ago (July 1, 2000)
Funders 0

None

@article{Paloneva_2000, title={Loss-of-function mutations in TYROBP (DAP12) result in a presenile dementia with bone cysts}, volume={25}, ISSN={1546-1718}, url={http://dx.doi.org/10.1038/77153}, DOI={10.1038/77153}, number={3}, journal={Nature Genetics}, publisher={Springer Science and Business Media LLC}, author={Paloneva, Juha and Kestilä, Marjo and Wu, Jun and Salminen, Antti and Böhling, Tom and Ruotsalainen, Vesa and Hakola, Panu and Bakker, Alexander B.H. and Phillips, Joseph H. and Pekkarinen, Petra and Lanier, Lewis L. and Timonen, Tuomo and Peltonen, Leena}, year={2000}, month=jul, pages={357–361} }