Works matching Hypolipoproteinemia

Results: 80

Cholesterol Paradox in Patients with Paroxysmal Atrial Fibrillation.

Published in:

Cardiology, 1999, v. 92, n. 1, p. 21, doi. 10.1159/000006942

By:

Annoura, Miyuki;
Ogawa, Masahiro;
Kumagai, Koichiro;
Bo Zhang;
Arakawa, Kikuo;
Saku, Keijiro

Publication type:

Article

Characteristics of Lipids Imbalance in Patients with Tick-Borne Encephalitis.

Published in:

Nucleosides, Nucleotides & Nucleic Acids, 2004, v. 23, n. 6/7, p. 1003, doi. 10.1081/NCN-200026055

By:

Garmashova, N.V.;
Tuzikov, F.V.;
Tuzikova, N.A.;
Tyshkevich, O.B.;
Doronin, B.M.;
Buneva, V.N.;
Nevinsky, G.A.

Publication type:

Article

Four novel mutations in APOB causing heterozygous and homozygous familial hypobetalipoproteinemia (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #634 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/634.pdf)

Published in:

Human Mutation, 2003, v. 22, n. 2, p. 178, doi. 10.1002/humu.9163

By:

A.J. Whitfield;
A.D. Marais;
K. Robertson

Publication type:

Article

Four novel mutations in APOB causing heterozygous and homozygous familial hypobetalipoproteinemiaCommunicated by Mark H. PaalmanOnline Citation: Human Mutation, Mutation in Brief #634 (2003) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/634.pdf

Published in:

Human Mutation, 2003, v. 22, n. 2, p. 178, doi. 10.1002/humu.9163

By:

A.J. Whitfield;
A.D. Marais;
K. Robertson;
P.H.R. Barrett;
F.M. van Bockxmeer;
J.R. Burnett

Publication type:

Article

Transport of lipids from Golgi to plasma membrane is defective in Tangier disease patients and Abc1-deficient mice.

Published in:

Nature Genetics, 2000, v. 24, n. 2, p. 192, doi. 10.1038/72869

By:

Orsó, Evelyn;
Broccardo, Cyril;
Kaminski, Wolfgang E.;
Böttcher, Alfred;
Liebisch, Gerhard;
Drobnik, Wolfgang;
Götz, Alexandra;
Chambenoit, Olivier;
Diederich, Wendy;
Langmann, Thomas;
Spruss, Thilo;
Luciani, Marie-Francoise;
Rothe, Gregor;
Lackner, Karl J.;
Chimini, Giovanna;
Schmitz, Gerd

Publication type:

Article

The ABCs of cholesterol efflux.

Published in:

Nature Genetics, 1999, v. 22, n. 4, p. 316, doi. 10.1038/11878

By:

Young, Stephen G;
Fielding, Christopher J

Publication type:

Article

Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency.

Published in:

Nature Genetics, 1999, v. 22, n. 4, p. 336, doi. 10.1038/11905

By:

Brooks-Wilson, Angela;
Marcil, Michel;
Clee, Susanne M.;
Zhang, Lin-Hua;
Roomp, Kirsten;
van Dam, Marjel;
Yu, Lu;
Brewer, Carl;
Collins, Jennifer A.;
Molhuizen, Henri O.F.;
Loubser, Odell;
Ouelette, B.F. Francis;
Fichter, Keith;
Ashbourne-Excoffon, Katherine J.D.;
Sensen, Christoph W.;
Scherer, Stephen;
Mott, Stephanie;
Denis, Maxime;
Martindale, Duane

Publication type:

Article

The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease.

Published in:

Nature Genetics, 1999, v. 22, n. 4, p. 347, doi. 10.1038/11914

By:

Bodzioch, Marek;
Orsó, Evelyn;
Klucken, Jochen;
Langmann, Thomas;
Böttcher, Alfred;
Diederich, Wendy;
Drobnik, Wolfgang;
Barlage, Stefan;
Büchler, Christa;
Porsch-Özcürümez, Mustafa;
Kaminski, Wolfgang E.;
Hahmann, Harry W.;
Oette, Kurt;
Rothe, Gregor;
Aslanidis, Charalampos;
Lackner, Karl J.;
Schmitz, Gerd

Publication type:

Article

Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1.

Published in:

Nature Genetics, 1999, v. 22, n. 4, p. 352, doi. 10.1038/11921

By:

Rust, Stephan;
Rosier, Marie;
Funke, Harald;
Real, José;
Amoura, Zahir;
Piette, Jean-Charles;
Deleuze, Jean-Francois;
Brewer, H. Bryan;
Duverger, Nicolas;
Denèfle, Patrice;
Assmann, Gerd

Publication type:

Article

Assignment of Tangier disease to chromosome 9q31 by a graphical linkage exclusion strategy.

Published in:

1998

By:

Rust, Stephan

Publication type:

Erratum

Assignment of Tangier disease to chromosome 9q31 by a graphical linkage exclusion strategy.

Published in:

Nature Genetics, 1998, v. 20, n. 1, p. 96, doi. 10.1038/1770

By:

Rust, Stephan;
Walter, Michael;
Funke, Harald;
von Eckardstein, Arnold;
Cullen, Paul;
Kroes, Hester Y.;
Hordijk, Roel;
Geisel, Jürgen;
Kastelein, John;
Molhuizen, Henri O.F.;
Schreiner, Michaela;
Mischke, Anja;
Hahmann, Harry W.;
Assmann, Gerd

Publication type:

Article

Monogenic Hypocholesterolaemic Lipid Disorders and Apolipoprotein B Metabolism.

Published in:

Critical Reviews in Clinical Laboratory Sciences, 2005, v. 42, n. 5/6, p. 515, doi. 10.1080/10408360500295113

By:

Hooper, Amanda J.;
van Bockxmeer, Frank M.;
Burnett, John R.

Publication type:

Article

Tangier Disease.

Published in:: Annals of Internal Medicine, 1961, v. 55, n. 6, p. 1016
Publication type:: Article

Inhibitory effects of in vivo oxidized high-density lipoproteins on platelet aggregation: evidence from patients with abetalipoproteinemia.

Published in:

FASEB Journal, 2013, v. 27, n. 7, p. 2855, doi. 10.1096/fj.12-225169

By:

Calzada, Catherine;
Véricel, Evelyne;
Colas, Romain;
Guillot, Nicolas;
El Khoury, Graziella;
Drai, Jocelyne;
Sassolas, Agnès;
Peretti, Noël;
Ponsin, Gabriel;
Lagarde, Michel;
Moulin, Philippe

Publication type:

Article

Prevalence of hypobetalipoproteinemia and related psychiatric characteristics in a psychiatric population: results from the retrospective HYPOPSY Study.

Published in:

Lipids in Health & Disease, 2018, v. 17, n. 1, p. N.PAG, doi. 10.1186/s12944-018-0892-4

By:

Cariou, Bertrand;
Challet-Bouju, Gaëlle;
Bernard, Céline;
Marrec, Marie;
Hardouin, Jean-Benoit;
Authier, Charlotte;
Bach-Ngohou, Kalyane;
Leux, Christophe;
Pichelin, Matthieu;
Grall-Bronnec, Marie

Publication type:

Article

Low LPA gene kringle IV-2 repeat copy number association with elevated lipoprotein (a) concentration as an independent risk factor of coronary atherosclerotic heart disease in the Chinese Han population.

Published in:

Lipids in Health & Disease, 2018, v. 17, n. 1, p. N.PAG, doi. 10.1186/s12944-018-0753-1

By:

Sun, Lishan;
Zong, Ming;
Chen, Cuncun;
Xie, Lihong;
Wu, Fei;
Yu, Ming;
Fan, Lieying

Publication type:

Article

Fatty liver and insulin resistance in children with hypobetalipoproteinemia: the importance of aetiology.

Published in:

Clinical Endocrinology, 2013, v. 79, n. 1, p. 49, doi. 10.1111/j.1365-2265.2012.04498.x

By:

Della Corte, Claudia;
Fintini, Danilo;
Giordano, Ugo;
Cappa, Marco;
Brufani, Claudia;
Majo, Fabio;
Mennini, Chiara;
Nobili, Valerio

Publication type:

Article

Double deletions and missense mutations in the first nucleotide-binding fold of the ATP-binding cassette transporter A1 (ABCA1) gene in Japanese patients with Tangier disease.

Published in:

Journal of Human Genetics, 2002, v. 47, n. 6, p. 325, doi. 10.1007/s100380200044

By:

Guo, Z.;
Inazu, A.;
Yu, W.;
Suzumura, T.;
Okamoto, M.;
Nohara, A.;
Higashikata, T.;
Sano, R.;
Wakasugi, K.;
Hayakawa, T.;
Yoshida, K.;
Suehiro, T.;
Schmitz, G.;
Mabuchi, H.

Publication type:

Article

An Infant with Chronic Diarrhoea and Failure to Thrive: Familial Hypobetalipoproteinemia.

Published in:

Journal of Clinical & Diagnostic Research, 2015, v. 9, n. 12, p. 1, doi. 10.7860/JCDR/2015/14166.6919

By:

SINGH, ANKUR;
PRASAD, RAJNITI;
MISHRA, OM PRAKASH

Publication type:

Article

Hypobetalipoproteinaemia secondary to chronic hepatitis C virus infection in a patient with familial hypercholesterolaemia.

Published in:

Annals of Clinical Biochemistry, 2009, v. 46, n. 5, p. 420, doi. 10.1258/acb.2009.009004

By:

Bima, Abdulhadi I.;
Hooper, Amanda J.;
van Bockxmeer, Frank M.;
Burnett, John R.

Publication type:

Article

Defect in an Intrahepatic Degradation of Apolipoprotein B in Suncus: An Animal Model of Hypobetalipoproteinemia1.

Published in:

Journal of Biochemistry, 1998, v. 123, n. 1, p. 28, doi. 10.1093/oxfordjournals.jbchem.a021912

By:

Liang, Yi-qiang;
Kinoshita, Makoto;
Muto, Tomomi;
Fujimaki, Yuko;
Matsuki, Norio;
Saito, Hiroshi;
Yamanaka, Masami;
Teramoto, Tamio

Publication type:

Article

A novel nonsense mutation in the ABC1 gene causes a severe syringomyelia-like phenotype of Tangier disease.

Published in:

Brain: A Journal of Neurology, 2003, v. 126, n. 4, p. 920, doi. 10.1093/brain/awg074

By:

S. Züchner;
A.D. Sperfeld;
J. Senderek;
B. Sellhaus;
C.O. Hanemann;
J.M. Schröder

Publication type:

Article

LDL is out again - through the crosstalk of two atheroprotective mechanisms: ABCA1 of macrophages and NO˙ from endothelial cells.

Published in:

2014

By:

Zakrzewicz, A.

Publication type:

Editorial

ASYMPTOMATIC ELEVATION OF AMINOTRANSFERASE LEVELS AND FATTY LIVER SECONDARY TO HETEROZYGOUS HYPOBETALIPOPROTEINEMIA.

Published in:

American Journal of Gastroenterology (Springer Nature), 1998, v. 93, n. 12, p. 2598, doi. 10.1111/j.1572-0241.1998.00732.x

By:

Ahmed, Aijaz;
Keeffe, Emmet B.

Publication type:

Article

Response to Drs. Tarugi and Lonardo.

Published in:

1997

By:

Ogata, Hisanobu;
Akagi, Kimihiro

Publication type:

Letter

Heterozygous Familial Hypobetalipoproteinemia Associated with Fatty Liver.

Published in:

1997

By:

Tarugi, Patrizia;
Lonardo, Amedeo

Publication type:

Letter

Fatty Liver in a Case with Heterozygous Familial Hypobetalipoproteinemia.

Published in:

American Journal of Gastroenterology (Springer Nature), 1997, v. 92, n. 2, p. 339

By:

Ogata, Hisanobu;
Akagi, Kimihiro;
Baba, Mitsuo;
Nagamatsu, Akio;
Suzuki, Norihisa;
Nomiyama, Kensuke;
Fujishima, Masatoshi

Publication type:

Article

Fatty Liver Due to Heterozygous Hypobetalipoproteinemia.

Published in:

American Journal of Gastroenterology (Springer Nature), 1994, v. 89, n. 7, p. 1106

By:

Wishingrad, Marc;
Paaso, Brian;
Garcia, Gabriel

Publication type:

Article

Targeted inactivation of hepatic Abca1 causes profound hypoalphalipoproteinemia and kidney hypercatabolism of apoA-I.

Published in:

Journal of Clinical Investigation, 2005, v. 115, n. 5, p. 1333, doi. 10.1172/JCI200523915

By:

Flmmins, Jenelle M.;
Lee, Ji-Young;
Boudyguina, Elena;
Kluckman, Kimberly D.;
Brunham, Liam R.;
Mulya, Anny;
Gebre, Abraham K.;
Coutinho, Jonathan M.;
Colvin, Perry L.;
Smith, Thomas L.;
Hayden, Michael R.;
Maeda, Nobuyo;
Parks, John S.

Publication type:

Article

Genetic variation in ABC transporter A1 contributes to HDL cholesterol in the general population.

Published in:

2004

By:

Frikke-Schmidt, Ruth;
Nordestgaard, Borge G.;
Jensen, Gorm B.;
Tybaerg-Hansen, Anne;
Nordestgaard, Børge G;
Tybjaerg-Hansen, Anne

Publication type:

journal article

Do DNA sequence variants in ABCA1 contribute to HDL cholesterol levels in the general population?

Published in:

2004

By:

Pajukanta, Päivi;
Pajukanta, Päivi

Publication type:

journal article

Treating Dyslipidemic Patients with Lipid-Modifying and Combination Therapies.

Published in:

Pharmacotherapy, 2003, v. 23, n. 5, p. 625, doi. 10.1592/phco.23.5.625.32204

By:

Worz, Chad R.;
Bottorff, Michael

Publication type:

Article

A transposable element insertion in APOB causes cholesterol deficiency in Holstein cattle.

Published in:

Animal Genetics, 2016, v. 47, n. 2, p. 253, doi. 10.1111/age.12410

By:

Menzi, F.;
Besuchet‐Schmutz, N.;
Fragnière, M.;
Hofstetter, S.;
Jagannathan, V.;
Mock, T.;
Raemy, A.;
Studer, E.;
Mehinagic, K.;
Regenscheit, N.;
Meylan, M.;
Schmitz‐Hsu, F.;
Drögemüller, C.

Publication type:

Article

Tonsil with Tangier disease.

Published in:

ENT: Ear, Nose & Throat Journal, 2003, v. 82, n. 3, p. 178, doi. 10.1177/014556130308200308

By:

Nelson, Brenda L.;
Thompson, Lester D.R.

Publication type:

Article

Frequent occurrence of hypoalphalipoproteinemia due to mutant apolipoprotein A-I gene in the population:a population-based survey.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 2, p. 331, doi. 10.1093/hmg/8.2.331

By:

Yamakawa-Kobayashi, Kimiko;
Yanagi, Hisako;
Fukayama, Hiromi;
Hirano, Chiaki;
Shimakura, Yae;
Yamamoto, Nao;
Arinami, Tadao;
Tsuchiya, Shigeru;
Hamaguchi, Hideo

Publication type:

Article

Effects of miglustat treatment in a patient affected by an atypical form of Tangier Disease.

Published in:

Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 2, doi. 10.1186/s13023-014-0143-3

By:

Sechi, Annalisa;
Dardis, Andrea;
Zampieri, Stefania;
Rabacchi, Claudio;
Zanoni, Paolo;
Calandra, Sebastiano;
Maglio, Giovanna De;
Pizzolitto, Stefano;
Maruotti, Valerio;
Muzio, Antonio Di;
Platt, Frances;
Bembi, Bruno

Publication type:

Article

Current Concepts in Diabetes Mellitus and Chronic Liver Disease: Clinical Outcomes, Hepatitis C Virus Association, and Therapy.

Published in:

2016

By:

García-Compeán, Diego;
González-González, José;
Lavalle-González, Fernando;
González-Moreno, Emmanuel;
Villarreal-Pérez, Jesús;
Maldonado-Garza, Héctor;
García-Compeán, Diego;
González-González, José Alberto;
Lavalle-González, Fernando Javier;
González-Moreno, Emmanuel Irineo;
Villarreal-Pérez, Jesús Zacarías;
Maldonado-Garza, Héctor J

Publication type:

journal article

Nuclear Receptor DHR96 Acts as a Sentinel for Low Cholesterol Concentrations in Drosophila melanogaster.

Published in:

Molecular & Cellular Biology, 2010, v. 30, n. 3, p. 19, doi. 10.1128/MCB.01327-09

By:

Bujold, Mattéa;
Gopalakrishnan, Akila;
Nally, Emma;
King-Jones, Kirst

Publication type:

Article

Fibrinogen storage disease and cirrhosis associated with hypobetalipoproteinemia owing to fibrinogen Aguadilla in a Turkish child.

Published in:

Liver International, 2015, v. 35, n. 12, p. 2501, doi. 10.1111/liv.12914

By:

Sari, Sinan;
Yilmaz, Guldal;
Gonul, Ipek I.;
Dalgic, Buket;
Akyol, Gulen;
Giovannoni, Isabella;
Francalanci, Paola;
Callea, Francesco

Publication type:

Article

Association between familial hypobetalipoproteinemia and the risk of diabetes. Is this the other side of the cholesterol-diabetes connection? A systematic review of literature.

Published in:

Acta Diabetologica, 2017, v. 54, n. 2, p. 111, doi. 10.1007/s00592-016-0931-4

By:

Noto, Davide;
Averna, Maurizio;
Arca, Marcello;
Tarugi, Patrizia;
Cefalù, Angelo;
Barbagallo, Carlo

Publication type:

Article

Exome sequencing identifies novel ApoB loss-of-function mutations causing hypobetalipoproteinemia in type 1 diabetes.

Published in:

Acta Diabetologica, 2015, v. 52, n. 3, p. 531, doi. 10.1007/s00592-014-0687-7

By:

Gao, Feng;
Luo, Hao;
Fu, Zhiyao;
Zhang, Chun-Ting;
Zhang, Ren

Publication type:

Article

Hipobetalipoproteinemia rodzinna jako schorzenie często występujące w populacji polskich dzieci ze stłuszczeniem wątroby.

Published in:

Contemporary Pediatrics, Gastroenterology, Hepatology & Child Feeding / Pediatria Wspolczesna, Gastroenterologia, Heptologia i Zywienie Dziecka, 2012, v. 14, n. 3, p. 109

By:

Seniuta, Julia;
Kuchar, Ernest;
Zaleska, Izabela;
Gruszka, Jarosław;
Szenborn, Leszek

Publication type:

Article

A Novel Mutation in ABCA1 Gene Causing Tangier Disease in an Italian Family with Uncommon Neurological Presentation.

Published in:

Frontiers in Neurology, 2016, v. 7, p. 1, doi. 10.3389/fneur.2016.00185

By:

Ceccanti, Marco;
Cambieri, Chiara;
Frasca, Vittorio;
Onesti, Emanuela;
Biasiotta, Antonella;
Giordano, Carla;
Bruno, Sabina M.;
Testino, Giancarlo;
Lucarelli, Marco;
Arca, Marcello;
Inghilleri, Maurizio

Publication type:

Article

Familial Hypobetalipoproteinemia.

Published in:: JAMA: Journal of the American Medical Association, 1989, v. 261, n. 3, p. 448
Publication type:: Article

FAMİLYAL HİPOBETALİPOPROTEİNEMİLİ BİR OLGU.

Published in:

Nobel Medicus Journal, 2007, v. 3, n. 1, p. 30

By:

Gürhan Şişman;
Uçucu, Mehmet

Publication type:

Article

Tangier disease: still more questions than answers.

Published in:

Cellular & Molecular Life Sciences, 2005, v. 62, n. 19/20, p. 2150, doi. 10.1007/s00018-005-5125-0

By:

Nofer, J.-R.;
Remaley, A. T.

Publication type:

Article

Familial hypobetalipoproteinemia: genetics and metabolism.

Published in:

Cellular & Molecular Life Sciences, 2005, v. 62, n. 12, p. 1372, doi. 10.1007/s00018-005-4473-0

By:

Schonfeld, G.;
Lin, X.;
Yue, P.

Publication type:

Article

Retinoic Acid Receptor-Mediated Induction of ABCA1 in Macrophages.

Published in:

Molecular & Cellular Biology, 2003, v. 23, n. 21, p. 7756, doi. 10.1128/MCB.23.21.7756-7766.2003

By:

Costet, Philippe;
Lalanne, Florent;
Gerbod-Giannone, Marie C.;
Molina, Jennifer R.;
Xuan Fu, Jennifer R.;
Lund, Erik G.;
Gudas, Lorraine J.;
Tall, Alan R.

Publication type:

Article

An infant with chronic diarrhoea and failure to thrive.

Published in:

European Journal of Pediatrics, 2000, v. 159, n. 1/2, p. 123, doi. 10.1007/s004310050027

By:

Narchi, H.;
El Jamil, M. R.;
Amr, S. S.

Publication type:

Article

ABC1: The gene for Tangier disease and beyond.

Published in:

Nutrition Reviews, 2000, v. 58, n. 3, p. 76

By:

Ordovas, Jose M.;
Mayer, Jean

Publication type:

Article