Results 11 to 20 of about 9,324,018 (299)

The iPSC Awakens ANGPTL3 in Tangier Disease [PDF]

EBioMedicine, 2017
Man K.S. Lee, Andrew J. Murphy
doaj   +3 more sources

Platelet activating factor levels and metabolism in tangier disease: a case study [PDF]

Lipids in Health and Disease, 2012
Background Tangier disease (TD) is a phenotypic expression of rare familial syndrome with mutations in the ABCA1 transporter. The risk of coronary artery disease in patients with TD is variable.
Kolovou Vana, Papakonstantinou Vasiliki D, Stamatakis George, Verouti Sophia N, Xanthopoulou Marianna N, Kolovou Genovefa, Demopoulos Constantinos A   +6 more
doaj   +2 more sources

Tangier disease may cause early onset of atherosclerotic cerebral infarction: A case report. [PDF]

Medicine (Baltimore), 2018
Rationale: The present study explored the relationship between the adenosine triphosphate (ATP)-binding cassette A1 (ABCA1) gene, atherosclerosis, and cerebral infarction.
Liang Z, Li W, Yang S, Liu Z, Sun X, Gao X, Yu G.   +6 more
europepmc   +2 more sources

Tangier′s disease: An uncommon cause of facial weakness and non-length dependent demyelinating neuropathy

Annals of Indian Academy of Neurology, 2016
Tangier disease is an autosomal recessive disorder characterized by an abnormal accumulation of cholesterol esters in various organs secondary to adenotriphosphate binding cassette transporter A-1 (ABCA-1) transporter deficiency and disrupted reverse ...
Madhu Nagappa, Arun B Taly, Anita Mahadevan, M Pooja, P S Bindu, Y T Chickabasaviah, N Gayathri, Sanjib Sinha   +7 more
doaj   +2 more sources

Abnormal splicing of ABCA1 pre-mRNA in Tangier disease due to a IVS2 +5G>C mutation in ABCA1 gene [PDF]

Journal of Lipid Research, 2003
Two point mutations of ABCA1 gene were found in a patient with Tangier disease (TD): i) G>C in intron 2 (IVS2 +5G>C) and ii) c.844 C>T in exon 9 (R282X).
Serena Altilia, Livia Pisciotta, Rita Garuti, Patrizia Tarugi, Alfredo Cantafora, Laura Calabresi, Jacopo Tagliabue, Sergio Maccari, Franco Bernini, Ilaria Zanotti, Carlo Vergani, Stefano Bertolini, Sebastiano Calandra   +12 more
doaj   +2 more sources

Tangier disease in family with the phenotype of familial hypercholesterolemia. [PDF]

Vnitrni lekarstvi, 2020
Within the project MedPed (Make Early Diagnosis to Prevent Deaths) we have examined patient with familial hypercholesterolemia in our lipid ambulance.
R. Urbánek, L. Tichý, T. Freiberger
semanticscholar   +2 more sources

Cellular cholesterol efflux in heterozygotes for Tangier disease is markedly reduced and correlates with high density lipoprotein cholesterol concentration and particle size [PDF]

Journal of Lipid Research, 2000
Tangier disease (TD), caused by mutations in the ATP-binding cassette 1 (ABC-1) gene, is a rare genetic disorder characterized by severe deficiency of high density lipoproteins (HDL) in the plasma, hypercatabolism of HDL, and defective apolipoprotein ...
Margaret E. Brousseau, Gretchen P. Eberhart, Josée Dupuis, Bela F. Asztalos, Allison L. Goldkamp, Ernst J. Schaefer, Mason W. Freeman   +6 more
doaj   +2 more sources

A rare case of nephrotic syndrome and Tangier disease. [PDF]

CEN Case Rep, 2023
Gama R, Murphy E, Salisbury J, Kassam S, Simmonds N, Roufosse C, Elias R.   +6 more
europepmc   +2 more sources

Novel mutations in the gene encoding ATP-binding cassette 1 in four Tangier disease kindreds

Journal of Lipid Research, 2000
: Tangier disease (TD) is an autosomal co-dominant disorder in which homozygotes have a marked deficiency of high density lipoprotein (HDL) cholesterol and, in some cases, peripheral neuropathy and premature coronary heart disease (CHD).
Margaret E. Brousseau, Ernst J. Schaefer, Josee Dupuis, Brenda Eustace, Paul Van Eerdewegh, Allison L. Goldkamp, Lisa M. Thurston, Michael G. FitzGerald, Diane Yasek-McKenna, Gilmore O'Neill, Gretchen P. Eberhart, Barbara Weiffenbach, Jose M. Ordovas, Mason W. Freeman, Robert H. Brown, Jr., Jessie Z. Gu   +15 more
doaj   +2 more sources

Miglustat as a Treatment for Adults with Tangier Disease Neuropathy: The MUSTANG N-of-1 Trial with 21 months Clinical Observation [PDF]

Neurology and Therapy
Importance Tangier disease (TD) is an ultra-rare disease, characterised by progressive peripheral neuropathy with no established treatment. Objectives To determine whether miglustat improved the clinical status of a single patient with TD, and to ...
Andrew Cook, Beth Stuart, Antonio Ochoa-Ferraro, Nicola Condon, Megan Lawrence, Fran Webley, Kerri-Lee Wallom, Claire Forbes, Vishy Veeranna, Subadra Wanninayake, Tom Oliver, Nicholas Davies, Charlotte Dawson, Frances Platt, Tarekegn Hiwot   +14 more
doaj   +2 more sources