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 *

258 related articles for article (PubMed ID: 22100072)

  • 1. 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]  

  • 2. A novel recessive mutation in the gene ELOVL4 causes a neuro-ichthyotic disorder with variable expressivity.
    Mir H; Raza SI; Touseef M; Memon MM; Khan MN; Jaffar S; Ahmad W
    BMC Med Genet; 2014 Feb; 15():25. PubMed ID: 24571530
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Two Italian Patients with
    Diociaiuti A; Martinelli D; Nicita F; Cesario C; Pisaneschi E; Macchiaiolo M; Rossi S; Condorelli AG; Zambruno G; El Hachem M
    Genes (Basel); 2021 Feb; 12(3):. PubMed ID: 33652762
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Expanding the allelic spectrum of ELOVL4-related autosomal recessive neuro-ichthyosis.
    Alabdulrazzaq F; Alanzi T; Al-Balool HH; Gardham A; Wakeling E; Leitch HG; AlSayed M; Abdulrahim M; Aladwani A; Romito A; Kampe K; Ferdinandusse S; Aboelanine AH; Abdullah A; Alwadani A; Bastaki L; Vaz FM; Bertoli-Avella AM; Marafi D
    Mol Genet Genomic Med; 2023 Dec; 11(12):e2256. PubMed ID: 37592902
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Depletion of ceramides with very long chain fatty acids causes defective skin permeability barrier function, and neonatal lethality in ELOVL4 deficient mice.
    Li W; Sandhoff R; Kono M; Zerfas P; Hoffmann V; Ding BC; Proia RL; Deng CX
    Int J Biol Sci; 2007 Feb; 3(2):120-8. PubMed ID: 17311087
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Genetics and molecular pathology of Stargardt-like macular degeneration.
    Vasireddy V; Wong P; Ayyagari R
    Prog Retin Eye Res; 2010 May; 29(3):191-207. PubMed ID: 20096366
    [TBL] [Abstract][Full Text] [Related]  

  • 7. The Elovl4 Spinocerebellar Ataxia-34 Mutation 736T>G (p.W246G) Impairs Retinal Function in the Absence of Photoreceptor Degeneration.
    Agbaga MP; Stiles MA; Brush RS; Sullivan MT; Machalinski A; Jones KL; Anderson RE; Sherry DM
    Mol Neurobiol; 2020 Nov; 57(11):4735-4753. PubMed ID: 32780351
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A novel ELOVL4 variant, L168S, causes early childhood-onset Spinocerebellar ataxia-34 and retinal dysfunction: a case report.
    Gyening YK; Boris K; Cyril M; Brush RS; Nassogne MC; Agbaga MP
    Acta Neuropathol Commun; 2023 Aug; 11(1):131. PubMed ID: 37568198
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Epidermal expression of an Elovl4 transgene rescues neonatal lethality of homozygous Stargardt disease-3 mice.
    McMahon A; Butovich IA; Kedzierski W
    J Lipid Res; 2011 Jun; 52(6):1128-1138. PubMed ID: 21429867
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Loss of functional ELOVL4 depletes very long-chain fatty acids (> or =C28) and the unique omega-O-acylceramides in skin leading to neonatal death.
    Vasireddy V; Uchida Y; Salem N; Kim SY; Mandal MN; Reddy GB; Bodepudi R; Alderson NL; Brown JC; Hama H; Dlugosz A; Elias PM; Holleran WM; Ayyagari R
    Hum Mol Genet; 2007 Mar; 16(5):471-82. PubMed ID: 17208947
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Homozygous Expression of Mutant ELOVL4 Leads to Seizures and Death in a Novel Animal Model of Very Long-Chain Fatty Acid Deficiency.
    Hopiavuori BR; Deák F; Wilkerson JL; Brush RS; Rocha-Hopiavuori NA; Hopiavuori AR; Ozan KG; Sullivan MT; Wren JD; Georgescu C; Szweda L; Awasthi V; Towner R; Sherry DM; Anderson RE; Agbaga MP
    Mol Neurobiol; 2018 Feb; 55(2):1795-1813. PubMed ID: 29168048
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Retinal pathology and skin barrier defect in mice carrying a Stargardt disease-3 mutation in elongase of very long chain fatty acids-4.
    McMahon A; Butovich IA; Mata NL; Klein M; Ritter R; Richardson J; Birch DG; Edwards AO; Kedzierski W
    Mol Vis; 2007 Feb; 13():258-72. PubMed ID: 17356513
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Expanding the clinical phenotype associated with ELOVL4 mutation: study of a large French-Canadian family with autosomal dominant spinocerebellar ataxia and erythrokeratodermia.
    Cadieux-Dion M; Turcotte-Gauthier M; Noreau A; Martin C; Meloche C; Gravel M; Drouin CA; Rouleau GA; Nguyen DK; Cossette P
    JAMA Neurol; 2014 Apr; 71(4):470-5. PubMed ID: 24566826
    [TBL] [Abstract][Full Text] [Related]  

  • 14. TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia.
    Alanay Y; Ergüner B; Utine E; Haçariz O; Kiper PO; Taşkıran EZ; Perçin F; Uz E; Sağiroğlu MŞ; Yuksel B; Boduroglu K; Akarsu NA
    Am J Med Genet A; 2014 Feb; 164A(2):291-304. PubMed ID: 24194475
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Ichthyosis in the Sjögren-Larsson syndrome.
    Jagell S; Lidén S
    Clin Genet; 1982 Apr; 21(4):243-52. PubMed ID: 6179662
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Sjögren-Larsson syndrome: physical and neurological features. A survey of 35 patients.
    Jagell S; Heijbel J
    Helv Paediatr Acta; 1982; 37(6):519-30. PubMed ID: 7166487
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Essential role of Elovl4 in very long chain fatty acid synthesis, skin permeability barrier function, and neonatal survival.
    Cameron DJ; Tong Z; Yang Z; Kaminoh J; Kamiyah S; Chen H; Zeng J; Chen Y; Luo L; Zhang K
    Int J Biol Sci; 2007 Feb; 3(2):111-9. PubMed ID: 17304340
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Novel Cellular Functions of Very Long Chain-Fatty Acids: Insight From ELOVL4 Mutations.
    Deák F; Anderson RE; Fessler JL; Sherry DM
    Front Cell Neurosci; 2019; 13():428. PubMed ID: 31616255
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Dermatoglyphic patterns in the Sjögren-Larsson syndrome.
    Gustavson KH; Jagell S
    Clin Genet; 1980 Feb; 17(2):120-4. PubMed ID: 7363498
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 13.