BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

147 related articles for article (PubMed ID: 29496980)

  • 1. Dominant
    Kutkowska-Kaźmierczak A; Rydzanicz M; Chlebowski A; Kłosowska-Kosicka K; Mika A; Gruchota J; Jurkiewicz E; Kowalewski C; Pollak A; Stradomska TJ; Kmieć T; Jakubowski R; Gasperowicz P; Walczak A; Śladowski D; Jankowska-Steifer E; Korniszewski L; Kosińska J; Obersztyn E; Nowak W; Śledziński T; Dziembowski A; Płoski R
    J Med Genet; 2018 Jun; 55(6):408-414. PubMed ID: 29496980
    [TBL] [Abstract][Full Text] [Related]  

  • 2. De novo mutation in
    Mueller N; Sassa T; Morales-Gonzalez S; Schneider J; Salchow DJ; Seelow D; Knierim E; Stenzel W; Kihara A; Schuelke M
    J Med Genet; 2019 Mar; 56(3):164-175. PubMed ID: 30487246
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Hypomyelinating spastic dyskinesia and ichthyosis caused by a homozygous splice site mutation leading to exon skipping in ELOVL1.
    Takahashi T; Mercan S; Sassa T; Akçapınar GB; Yararbaş K; Süsgün S; İşeri SAU; Kihara A; Akçakaya NH
    Brain Dev; 2022 Jun; 44(6):391-400. PubMed ID: 35379526
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Therapeutic Role of ELOVL in Neurological Diseases.
    Siddiqui AJ; Jahan S; Chaturvedi S; Siddiqui MA; Alshahrani MM; Abdelgadir A; Hamadou WS; Saxena J; Sundararaj BK; Snoussi M; Badraoui R; Adnan M
    ACS Omega; 2023 Mar; 8(11):9764-9774. PubMed ID: 36969404
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Impaired epidermal permeability barrier in mice lacking elovl1, the gene responsible for very-long-chain fatty acid production.
    Sassa T; Ohno Y; Suzuki S; Nomura T; Nishioka C; Kashiwagi T; Hirayama T; Akiyama M; Taguchi R; Shimizu H; Itohara S; Kihara A
    Mol Cell Biol; 2013 Jul; 33(14):2787-96. PubMed ID: 23689133
    [TBL] [Abstract][Full Text] [Related]  

  • 6. The role of ELOVL1 in very long-chain fatty acid homeostasis and X-linked adrenoleukodystrophy.
    Ofman R; Dijkstra IM; van Roermund CW; Burger N; Turkenburg M; van Cruchten A; van Engen CE; Wanders RJ; Kemp S
    EMBO Mol Med; 2010 Mar; 2(3):90-7. PubMed ID: 20166112
    [TBL] [Abstract][Full Text] [Related]  

  • 7. ELOVL1 production of C24 acyl-CoAs is linked to C24 sphingolipid synthesis.
    Ohno Y; Suto S; Yamanaka M; Mizutani Y; Mitsutake S; Igarashi Y; Sassa T; Kihara A
    Proc Natl Acad Sci U S A; 2010 Oct; 107(43):18439-44. PubMed ID: 20937905
    [TBL] [Abstract][Full Text] [Related]  

  • 8. HDAC inhibitor SAHA normalizes the levels of VLCFAs in human skin fibroblasts from X-ALD patients and downregulates the expression of proinflammatory cytokines in Abcd1/2-silenced mouse astrocytes.
    Singh J; Khan M; Singh I
    J Lipid Res; 2011 Nov; 52(11):2056-69. PubMed ID: 21891797
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Computational insight into structural basis of human ELOVL1 inhibition.
    Siddiqui AJ; Kumar V; Jahan S; Alshahrani MM; Al Awadh AA; Siddiqui MA; Hamadou WS; Abdelgadir A; Saxena J; Badraoui R; Snoussi M; Adnan M
    Comput Biol Med; 2023 May; 157():106786. PubMed ID: 36924735
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Reduced chain length in myelin sphingolipids and poorer motor coordination in mice deficient in the fatty acid elongase
    Isokawa M; Sassa T; Hattori S; Miyakawa T; Kihara A
    FASEB Bioadv; 2019 Dec; 1(12):747-759. PubMed ID: 32123819
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Enzymatic characterization of ELOVL1, a key enzyme in very long-chain fatty acid synthesis.
    Schackmann MJ; Ofman R; Dijkstra IM; Wanders RJ; Kemp S
    Biochim Biophys Acta; 2015 Feb; 1851(2):231-7. PubMed ID: 25499606
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Caffeic acid phenethyl ester induces adrenoleukodystrophy (Abcd2) gene in human X-ALD fibroblasts and inhibits the proinflammatory response in Abcd1/2 silenced mouse primary astrocytes.
    Singh J; Khan M; Singh I
    Biochim Biophys Acta; 2013 Apr; 1831(4):747-58. PubMed ID: 23318275
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Lorenzo's oil inhibits ELOVL1 and lowers the level of sphingomyelin with a saturated very long-chain fatty acid.
    Sassa T; Wakashima T; Ohno Y; Kihara A
    J Lipid Res; 2014 Mar; 55(3):524-30. PubMed ID: 24489110
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation.
    Hamilton EM; Polder E; Vanderver A; Naidu S; Schiffmann R; Fisher K; Raguž AB; Blumkin L; ; van Berkel CG; Waisfisz Q; Simons C; Taft RJ; Abbink TE; Wolf NI; van der Knaap MS
    Brain; 2014 Jul; 137(Pt 7):1921-30. PubMed ID: 24785942
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Discovery and Optimization of Pyrazole Amides as Inhibitors of ELOVL1.
    Come JH; Senter TJ; Clark MP; Court JJ; Gale-Day Z; Gu W; Krueger E; Liang J; Morris M; Nanthakumar S; O'Dowd H; Maltais F; Iyer G; Andreassi J; Boucher C; Considine T; Moody CS; Taylor W; Mohanty AK; Huang Y; Zuccola H; Coll J; Bonanno KC; Gagnon KJ; Gan L; Lu F; Gao H; Chakilam A; Engtrakul J; Song B; Crawford D; Doyle E; Kramer T; Vought B; Phillips J; Kemper R; Sanders M; Swett R; Furey B; Winquist R; Bunnage ME; Jackson KL; Charifson PS; Magavi SS
    J Med Chem; 2021 Dec; 64(24):17753-17776. PubMed ID: 34748351
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Exome sequencing revealed a novel homozygous METTL23 gene mutation leading to familial mild intellectual disability with dysmorphic features.
    Smaili W; Elalaoui SC; Zrhidri A; Raymond L; Egéa G; Taoudi M; Mouatassim SEL; Sefiani A; Lyahyai J
    Eur J Med Genet; 2020 Jul; 63(7):103951. PubMed ID: 32439618
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Production of branched-chain very-long-chain fatty acids by fatty acid elongases and their tissue distribution in mammals.
    Tanno H; Sassa T; Sawai M; Kihara A
    Biochim Biophys Acta Mol Cell Biol Lipids; 2021 Jan; 1866(1):158842. PubMed ID: 33069870
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Recessive mutations in ELOVL4 cause ichthyosis, intellectual disability, and spastic quadriplegia.
    Aldahmesh MA; Mohamed JY; Alkuraya HS; Verma IC; Puri RD; Alaiya AA; Rizzo WB; Alkuraya FS
    Am J Hum Genet; 2011 Dec; 89(6):745-50. PubMed ID: 22100072
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Discovery of Novel, Orally Bioavailable Pyrimidine Ether-Based Inhibitors of ELOVL1.
    Boyd MJ; Collier PN; Clark MP; Deng H; Kesavan S; Ronkin SM; Waal N; Wang J; Cao J; Li P; Come J; Davies I; Duffy JP; Cochran JE; Court JJ; Chandupatla K; Jackson KL; Maltais F; O'Dowd H; Boucher C; Considine T; Taylor WP; Gao H; Chakilam A; Engtrakul J; Crawford D; Doyle E; Phillips J; Kemper R; Swett R; Empfield J; Bunnage ME; Charifson PS; Magavi SS
    J Med Chem; 2021 Dec; 64(24):17777-17794. PubMed ID: 34871500
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic features.
    Steinfeld H; Cho MT; Retterer K; Person R; Schaefer GB; Danylchuk N; Malik S; Wechsler SB; Wheeler PG; van Gassen KL; Terhal PA; Verhoeven VJ; van Slegtenhorst MA; Monaghan KG; Henderson LB; Chung WK
    Neurogenetics; 2016 Jul; 17(3):159-64. PubMed ID: 27003583
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.