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Disease relevance of Xanthomatosis


Psychiatry related information on Xanthomatosis


High impact information on Xanthomatosis


Chemical compound and disease context of Xanthomatosis


Biological context of Xanthomatosis


Anatomical context of Xanthomatosis

  • Tendon xanthomas, multiple generation transmission, and the appearance of bimodality in the distributions of total and low-density lipoprotein cholesterol were found [22].
  • Comparisons were made with a number of measures of disease severity, including cholesterol-year score, calcium score on electron-beam CT (EBCT), and size of Achilles tendon xanthomas [23].
  • Even though only a proportion of an RE population is catalase-positive, the results accord with the majority of current opinion that most of the cells in atherosclerotic lesions are derived locally, whereas the phagocytes in lipid implants and xanthomas are of RE origin [24].
  • Analysis of monocytes from familial hypercholesterolemic (FH) subjects, who frequently develop xanthomatosis, revealed a significant number of subjects with elevated STAT1alpha and IP-10 expression [25].
  • The persistence of the xanthoma may be due to a lack of acceptors, such as high-density lipoproteins, that remove the cholesterol from the foam cells [26].

Gene context of Xanthomatosis


Analytical, diagnostic and therapeutic context of Xanthomatosis


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  2. NIH conference. Type III hyperlipoproteinemia: diagnosis, molecular defects, pathology, and treatment. Brewer, H.B., Zech, L.A., Gregg, R.E., Schwartz, D., Schaefer, E.J. Ann. Intern. Med. (1983) [Pubmed]
  3. Colestipol and probucol: treatment of primary and familial hypercholesterolemia and amelioration of atherosclerosis. Glueck, C.J. Ann. Intern. Med. (1982) [Pubmed]
  4. Intramuscular injection of a plasmid vector expressing human apolipoprotein E limits progression of xanthoma and aortic atheroma in apoE-deficient mice. Athanasopoulos, T., Owen, J.S., Hassall, D., Dunckley, M.G., Drew, J., Goodman, J., Tagalakis, A.D., Riddell, D.R., Dickson, G. Hum. Mol. Genet. (2000) [Pubmed]
  5. Partial external biliary diversion for intractable pruritus and xanthomas in Alagille syndrome. Emerick, K.M., Whitington, P.F. Hepatology (2002) [Pubmed]
  6. Psychiatric disorders in patients with cerebrotendinous xanthomatosis. Berginer, V.M., Foster, N.L., Sadowsky, M., Townsend, J.A., Siegel, G.J., Salen, G. The American journal of psychiatry. (1988) [Pubmed]
  7. Failure of complete bile diversion and oral bile acid therapy in the treatment of homozygous familial hypercholesterolemia. Deckelbaum, R.J., Lees, R.S., Small, D.M., Hedberg, S.E., Grundy, S.M. N. Engl. J. Med. (1977) [Pubmed]
  8. Massive xanthomatosis and altered composition of atherosclerotic lesions in hyperlipidemic mice lacking acyl CoA:cholesterol acyltransferase 1. Accad, M., Smith, S.J., Newland, D.L., Sanan, D.A., King, L.E., Linton, M.F., Fazio, S., Farese, R.V. J. Clin. Invest. (2000) [Pubmed]
  9. Mapping a gene involved in regulating dietary cholesterol absorption. The sitosterolemia locus is found at chromosome 2p21. Patel, S.B., Salen, G., Hidaka, H., Kwiterovich, P.O., Stalenhoef, A.F., Miettinen, T.A., Grundy, S.M., Lee, M.H., Rubenstein, J.S., Polymeropoulos, M.H., Brownstein, M.J. J. Clin. Invest. (1998) [Pubmed]
  10. Type III hyperlipoproteinemia and spontaneous atherosclerosis in mice resulting from gene replacement of mouse Apoe with human Apoe*2. Sullivan, P.M., Mezdour, H., Quarfordt, S.H., Maeda, N. J. Clin. Invest. (1998) [Pubmed]
  11. High density lipoprotein deficiency with xanthomas. A defect in reverse cholesterol transport caused by a point mutation in the apolipoprotein A-I gene. Lackner, K.J., Dieplinger, H., Nowicka, G., Schmitz, G. J. Clin. Invest. (1993) [Pubmed]
  12. Competitive inhibition of bile acid synthesis by endogenous cholestanol and sitosterol in sitosterolemia with xanthomatosis. Effect on cholesterol 7 alpha-hydroxylase. Shefer, S., Salen, G., Nguyen, L., Batta, A.K., Packin, V., Tint, G.S., Hauser, S. J. Clin. Invest. (1988) [Pubmed]
  13. Abnormal metabolism of shellfish sterols in a patient with sitosterolemia and xanthomatosis. Gregg, R.E., Connor, W.E., Lin, D.S., Brewer, H.B. J. Clin. Invest. (1986) [Pubmed]
  14. L-arginine prevents xanthoma development and inhibits atherosclerosis in LDL receptor knockout mice. Aji, W., Ravalli, S., Szabolcs, M., Jiang, X.C., Sciacca, R.R., Michler, R.E., Cannon, P.J. Circulation (1997) [Pubmed]
  15. A unique patient with coexisting cerebrotendinous xanthomatosis and beta-sitosterolemia. Wang, C., Lin, H.J., Chan, T.K., Salen, G., Chan, W.C., Tse, T.F. Am. J. Med. (1981) [Pubmed]
  16. Autoimmune hyperlipidemia in a patient. Atherosclerotic course and chaning immunoglobulin pattern during 21 years of study. Lewis, L.A., deWolfe, V.D., Butkus, A., Page, I.H. Am. J. Med. (1975) [Pubmed]
  17. Increased plasma plant sterol levels in heterozygotes with sitosterolemia and xanthomatosis. Hidaka, H., Nakamura, T., Aoki, T., Kojima, H., Nakajima, Y., Kosugi, K., Hatanaka, I., Harada, M., Kobayashi, M., Tamura, A. J. Lipid Res. (1990) [Pubmed]
  18. Lp(a) levels in different types of dyslipidemia in the French population. Boyer, H., de Gennes, J.L., Truffert, J., Chatellier, G., Dairou, F., Bruckert, E. Atherosclerosis (1990) [Pubmed]
  19. Atypical xanthomatosis in apolipoprotein E-deficient mice after cholesterol feeding. van Ree, J.H., Gijbels, M.J., van den Broek, W.J., Hofker, M.H., Havekes, L.M. Atherosclerosis (1995) [Pubmed]
  20. Cutaneous signs of diabetes mellitus. Stawiski, M.A., Voorhees, J.J. Cutis; cutaneous medicine for the practitioner. (1976) [Pubmed]
  21. Rare and common mutations in hyperlipidemia and atherosclerosis. With special reference to familial defective apolipoprotein B-100. Tybjaerg-Hansen, A. Scand. J. Clin. Lab. Invest. Suppl. (1995) [Pubmed]
  22. Plasma high-density lipoproteins and ischemic heart disease: studies in a large kindred with familial hypercholesterolemia. Streja, D., Steiner, G., Kwiterovich, P.O. Ann. Intern. Med. (1978) [Pubmed]
  23. Evaluation of the aortic root by MRI: insights from patients with homozygous familial hypercholesterolemia. Summers, R.M., Andrasko-Bourgeois, J., Feuerstein, I.M., Hill, S.C., Jones, E.C., Busse, M.K., Wise, B., Bove, K.E., Rishforth, B.A., Tucker, E., Spray, T.L., Hoeg, J.M. Circulation (1998) [Pubmed]
  24. Phagocytes, lipid-removal and regression of atheroma. Adams, C.W., Bayliss, O.B., Turner, D.R. J. Pathol. (1975) [Pubmed]
  25. Expression of gamma-IFN responsive genes in scavenger receptor over-expressing monocytes is associated with xanthomatosis. Grewal, T., Boudreau, M., Roy, M., Chamberland, A., Lefebvre, C., Lavigne, J., Davignon, J., Minnich, A. Atherosclerosis (1998) [Pubmed]
  26. Persistence of foam cells in rabbit xanthoma after normalization of serum cholesterol level. Kodama, H., Akiyama, H., Nagao, Y., Akagi, O., Nohara, N. Arch. Dermatol. Res. (1988) [Pubmed]
  27. ApoE enhances lipid uptake by macrophages in lipoprotein lipase deficiency during pregnancy. Steinberg, F.M., Tsai, E.C., Brunzell, J.D., Chait, A. J. Lipid Res. (1996) [Pubmed]
  28. A novel somatic mutation of the 3beta-hydroxysteroid dehydrogenase gene in sporadic cutaneous verruciform xanthoma. Mehra, S., Li, L., Fan, C.Y., Smoller, B., Morgan, M., Somach, S. Archives of dermatology. (2005) [Pubmed]
  29. Massive xanthomatosis and atherosclerosis in cholesterol-fed low density lipoprotein receptor-negative mice. Ishibashi, S., Goldstein, J.L., Brown, M.S., Herz, J., Burns, D.K. J. Clin. Invest. (1994) [Pubmed]
  30. Management of lipoprotein-X accumulation in severe cholestasis by semi-selective LDL-apheresis. Franceschini, G., Busnach, G., Chiesa, G., Sirtori, C.R. Am. J. Med. (1991) [Pubmed]
  31. Cutaneous verruciform xanthoma: a report of five cases investigating the etiology and nature of xanthomatous cells. Mohsin, S.K., Lee, M.W., Amin, M.B., Stoler, M.H., Eyzaguirre, E., Ma, C.K., Zarbo, R.J. Am. J. Surg. Pathol. (1998) [Pubmed]
  32. Xanthogranulomatosis in an adult: lipid analysis of xanthomas and plasma. Garvey, W.T., Grundy, S.M., Eckel, R. J. Am. Acad. Dermatol. (1987) [Pubmed]
  33. CD10 is expressed in cutaneous clear cell lesions of different histogenesis. Perna, A.G., Smith, M.J., Krishnan, B., Reed, J.A. J. Cutan. Pathol. (2005) [Pubmed]
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