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familial tangier disease相关文献:
Tangier Disease.
Burnett JR, Hooper AJ, McCormick SPA, Hegele RA.
2019 Nov 21. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024.
PMID:31751110
ABC Family Transporters.
Liu X.
Adv Exp Med Biol. 2019;1141:13-100. doi: 10.1007/978-981-13-7647-4_2.
PMID:31571164
[Tangier disease in family with the phenotype of familial hypercholesterolemia].
Urbánek R, Tichý L, Freiberger T.
Vnitr Lek. 2020 Fall;66(7):443-446.
PMID:33380124
Cholesterol efflux regulatory protein, Tangier disease and familial high-density lipoprotein deficiency.
Hayden MR, Clee SM, Brooks-Wilson A, Genest J Jr, Attie A, Kastelein JJ.
Curr Opin Lipidol. 2000 Apr;11(2):117-22. doi: 10.1097/00041433-200004000-00003.
PMID:10787172
Tangier disease and ABCA1.
Oram JF.
Biochim Biophys Acta. 2000 Dec 15;1529(1-3):321-30. doi: 10.1016/s1388-1981(00)00157-8.
PMID:11111099
Cholesterol Efflux Pathways Suppress Inflammasome Activation, NETosis, and Atherogenesis.
Westerterp M, Fotakis P, Ouimet M, Bochem AE, Zhang H, Molusky MM, Wang W, Abramowicz S, la Bastide-van Gemert S, Wang N, Welch CL, Reilly MP, Stroes ES, Moore KJ, Tall AR.
Circulation. 2018 Aug 28;138(9):898-912. doi: 10.1161/CIRCULATIONAHA.117.032636.
PMID:29588315
A novel splicing mutation in the ABCA1 gene, causing Tangier disease and familial HDL deficiency in a large family.
Maranghi M, Truglio G, Gallo A, Grieco E, Verrienti A, Montali A, Gallo P, Alesini F, Arca M, Lucarelli M.
Biochem Biophys Res Commun. 2019 Jan 8;508(2):487-493. doi: 10.1016/j.bbrc.2018.11.064. Epub 2018 Nov 30.
PMID:30503498
Orphan Peripheral Neuropathies.
Finsterer J, Löscher WN, Wanschitz J, Iglseder S.
J Neuromuscul Dis. 2021;8(1):1-23. doi: 10.3233/JND-200518.
PMID:32986679
HDL genetic defects.
Nair DR, Nair A, Jain A.
Curr Pharm Des. 2014;20(40):6230-7. doi: 10.2174/1381612820666140620122412.
PMID:24953397
The ABCs of Sterol Transport.
Plummer AM, Culbertson AT, Liao M.
Annu Rev Physiol. 2021 Feb 10;83:153-181. doi: 10.1146/annurev-physiol-031620-094944. Epub 2020 Nov 3.
PMID:33141631
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