Two apolipoprotein B gene defects in a kindred with hypobetalipoproteinemia, one of which results in a truncated variant, apoB-61, in VLDL and LDL.

Autor: CR Pullinger, E Hillas, DA Hardman, GC Chen, JM Naya-Vigne, JA Iwasa, RL Hamilton, JM Lalouel, RR Williams, JP Kane

Publikováno v: Journal of Lipid Research, Vol 33, Iss 5, Pp 699-710 (1992)

We report the presence of two distinct defects of the gene for apolipoprotein B, one resulting in a new truncated variant, apoB-61, in a kindred with familial hypobetalipoproteinemia (FHB). The proband (age 33) and a sister (age 36) are both compound

Externí odkaz: https://doaj.org/article/cce39f1ae4084d8a89d6b53eab706477

Conformation of apolipoprotein B-100 in the low density lipoproteins of tangier disease. Identification of localized conformational response to triglyceride content

Autor: St, Kunitake, Stephen Young, Gc, Chen, Cr, Pullinger, Zhu S, Rj, Pease, Scott J, Hass P, Schilling J, Jp, Kane

Publikováno v: Europe PubMed Central

The low density lipoproteins (LDL) from patients with Tangier disease are enriched in triglycerides, 27% of LDL mass versus 7% for normal LDL. To study whether this unique LDL core lipid composition affects the surface disposition of apolipoprotein (

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::249bcf909dfe3096c2e5c941dd09703f
http://europepmc.org/abstract/med/1701170

Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity.

Autor: Tsoi LC; Department of Biostatistics, Center for Statistical Genetics, University of Michigan Ann Arbor, MI, USA., Spain SL, Knight J, Ellinghaus E, Stuart PE, Capon F, Ding J, Li Y, Tejasvi T, Gudjonsson JE, Kang HM, Allen MH, McManus R, Novelli G, Samuelsson L, Schalkwijk J, Ståhle M, Burden AD, Smith CH, Cork MJ, Estivill X, Bowcock AM, Krueger GG, Weger W, Worthington J, Tazi-Ahnini R, Nestle FO, Hayday A, Hoffmann P, Winkelmann J, Wijmenga C, Langford C, Edkins S, Andrews R, Blackburn H, Strange A, Band G, Pearson RD, Vukcevic D, Spencer CC, Deloukas P, Mrowietz U, Schreiber S, Weidinger S, Koks S, Kingo K, Esko T, Metspalu A, Lim HW, Voorhees JJ, Weichenthal M, Wichmann HE, Chandran V, Rosen CF, Rahman P, Gladman DD, Griffiths CE, Reis A, Kere J, Nair RP, Franke A, Barker JN, Abecasis GR, Elder JT, Trembath RC

Publikováno v: Nature genetics [Nat Genet] 2012 Dec; Vol. 44 (12), pp. 1341-8. Date of Electronic Publication: 2012 Nov 11.

DIETARY EFFECTS ON DIURNAL VARIATION IN LIPOGENESIS.

Publikováno v: Nutrition Reviews; 1987, Vol. 45 Issue 7, p157-158, 2p