These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

145 related articles for article (PubMed ID: 31645127)

  • 21. Expression and functional characterization of human lysosomal acid lipase gene (LIPA) mutation responsible for cholesteryl ester storage disease (CESD) phenotype.
    Rajamohan F; Reyes AR; Ruangsiriluk W; Hoth LR; Han S; Caspers N; Tu M; Ward J; Kurumbail RG
    Protein Expr Purif; 2015 Jun; 110():22-9. PubMed ID: 25620107
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Hypercholesterolaemia and hepatosplenomegaly: two manifestations of cholesteryl ester storage disease.
    Sjouke B; van der Stappen JW; Groener JE; Pepping A; Wevers RA; Gouw A; Dikkeschei LD; Mijnhout S; Hovingh GK; Alleman MA
    Neth J Med; 2015 Mar; 73(3):129-32. PubMed ID: 25852113
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Mutations identified in a cohort of Mexican patients with lysosomal acid lipase deficiency.
    Consuelo-Sánchez A; Vázquez-Frias R; Reyes-De La Rosa A; Acosta-Rodríguez-Bueno CP; Ortal-Vite MP; Cebolla JJ
    Ann Hepatol; 2019; 18(4):646-650. PubMed ID: 31182375
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Functional Analysis of a Novel Genome-Wide Association Study Signal in SMAD3 That Confers Protection From Coronary Artery Disease.
    Turner AW; Martinuk A; Silva A; Lau P; Nikpay M; Eriksson P; Folkersen L; Perisic L; Hedin U; Soubeyrand S; McPherson R
    Arterioscler Thromb Vasc Biol; 2016 May; 36(5):972-83. PubMed ID: 26966274
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Cholesteryl Ester Storage Disease (CESD) due to novel mutations in the LIPA gene.
    Pisciotta L; Fresa R; Bellocchio A; Pino E; Guido V; Cantafora A; Di Rocco M; Calandra S; Bertolini S
    Mol Genet Metab; 2009 Jun; 97(2):143-8. PubMed ID: 19307143
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Estimation of the prevalence of cholesteryl ester storage disorder in a cohort of patients with clinical features of familial hypercholesterolaemia.
    Ashfield-Watt P; Haralambos K; Edwards R; Townsend D; Gingell R; Wa Li K; Humphries SE; McDowell I
    Ann Clin Biochem; 2019 Jan; 56(1):112-117. PubMed ID: 30056760
    [TBL] [Abstract][Full Text] [Related]  

  • 27. In situ localization of the genetic locus encoding the lysosomal acid lipase/cholesteryl esterase (LIPA) deficient in Wolman disease to chromosome 10q23.2-q23.3.
    Anderson RA; Rao N; Byrum RS; Rothschild CB; Bowden DW; Hayworth R; Pettenati M
    Genomics; 1993 Jan; 15(1):245-7. PubMed ID: 8432549
    [No Abstract]   [Full Text] [Related]  

  • 28. Association of non-synonymous variants in
    Maeda Y; Sato N; Naka-Mieno M; Mori S; Arai T; Tanaka M; Muramatsu M; Sawabe M
    J Geriatr Cardiol; 2016 Dec; 13(12):960-967. PubMed ID: 28321238
    [TBL] [Abstract][Full Text] [Related]  

  • 29. A novel missense LIPA gene mutation, N98S, in a patient with cholesteryl ester storage disease.
    Hooper AJ; Tran HA; Formby MR; Burnett JR
    Clin Chim Acta; 2008 Dec; 398(1-2):152-4. PubMed ID: 18775687
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Development of a selective activity-based probe for glycosylated LIPA.
    Schwaid AG; Ruangsiriluk W; Reyes AR; Cabral S; Rajamohan F; Tu M; Ward J; Carpino PA
    Bioorg Med Chem Lett; 2016 Apr; 26(8):1993-6. PubMed ID: 26965858
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Childhood/adult-onset lysosomal acid lipase deficiency: A serious metabolic and vascular phenotype beyond liver disease-four new pediatric cases.
    Poinsot P; Collardeau Frachon S; Restier L; Sérusclat A; Di Filippo M; Charrière S; Moulin P; Lachaux A; Peretti N
    J Clin Lipidol; 2017; 11(1):167-177.e3. PubMed ID: 28391883
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Lysosomal acid lipase A and the hypercholesterolaemic phenotype.
    Fouchier SW; Defesche JC
    Curr Opin Lipidol; 2013 Aug; 24(4):332-8. PubMed ID: 23652569
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Novel LIPA mutations in Mexican siblings with lysosomal acid lipase deficiency.
    Santillán-Hernández Y; Almanza-Miranda E; Xin WW; Goss K; Vera-Loaiza A; Gorráez-de la Mora MT; Piña-Aguilar RE
    World J Gastroenterol; 2015 Jan; 21(3):1001-8. PubMed ID: 25624737
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Characterization of the mechanisms by which missense mutations in the lysosomal acid lipase gene disrupt enzymatic activity.
    Vinje T; Laerdahl JK; Bjune K; Leren TP; Strøm TB
    Hum Mol Genet; 2019 Sep; 28(18):3043-3052. PubMed ID: 31131398
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Functional Characterization of the
    Kessler T; Wobst J; Wolf B; Eckhold J; Vilne B; Hollstein R; von Ameln S; Dang TA; Sager HB; Moritz Rumpf P; Aherrahrou R; Kastrati A; Björkegren JLM; Erdmann J; Lusis AJ; Civelek M; Kaiser FJ; Schunkert H
    Circulation; 2017 Aug; 136(5):476-489. PubMed ID: 28487391
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Whole-exome sequencing in individuals with multiple cardiovascular risk factors and normal coronary arteries.
    Abramowitz Y; Roth A; Keren G; Isakov O; Shomron N; Laitman Y; Weissglas-Volkov D; Arbel Y; Banai S; Finkelstein A; Friedman E
    Coron Artery Dis; 2016 Jun; 27(4):257-66. PubMed ID: 26905423
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Single-nucleus chromatin accessibility profiling highlights regulatory mechanisms of coronary artery disease risk.
    Turner AW; Hu SS; Mosquera JV; Ma WF; Hodonsky CJ; Wong D; Auguste G; Song Y; Sol-Church K; Farber E; Kundu S; Kundaje A; Lopez NG; Ma L; Ghosh SKB; Onengut-Gumuscu S; Ashley EA; Quertermous T; Finn AV; Leeper NJ; Kovacic JC; Björkegren JLM; Zang C; Miller CL
    Nat Genet; 2022 Jun; 54(6):804-816. PubMed ID: 35590109
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Mutations at the lysosomal acid cholesteryl ester hydrolase gene locus in Wolman disease.
    Anderson RA; Byrum RS; Coates PM; Sando GN
    Proc Natl Acad Sci U S A; 1994 Mar; 91(7):2718-22. PubMed ID: 8146180
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Common Polymorphism That Protects From Cardiovascular Disease Increases Fibronectin Processing and Secretion.
    Soubeyrand S; Lau P; Nikpay M; Dang AT; McPherson R
    Circ Genom Precis Med; 2022 Apr; 15(2):e003428. PubMed ID: 35130031
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Cholesteryl ester storage disease: protean presentations of lysosomal acid lipase deficiency.
    Zhang B; Porto AF
    J Pediatr Gastroenterol Nutr; 2013 Jun; 56(6):682-5. PubMed ID: 23403440
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 8.