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 *

205 related articles for article (PubMed ID: 20049467)

  • 1. Ichthyosis in Sjögren-Larsson syndrome reflects defective barrier function due to abnormal lamellar body structure and secretion.
    Rizzo WB; S'Aulis D; Jennings MA; Crumrine DA; Williams ML; Elias PM
    Arch Dermatol Res; 2010 Aug; 302(6):443-51. PubMed ID: 20049467
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Fatty aldehyde and fatty alcohol metabolism: review and importance for epidermal structure and function.
    Rizzo WB
    Biochim Biophys Acta; 2014 Mar; 1841(3):377-89. PubMed ID: 24036493
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Sjogren-Larsson syndrome.
    Dutra LA; Braga-Neto P; Pedroso JL; Povoas Barsottini OG
    Adv Exp Med Biol; 2012; 724():344-50. PubMed ID: 22411255
    [TBL] [Abstract][Full Text] [Related]  

  • 4. [Sjögren-Larsson syndrome: Pediatric case report].
    García-Ortiz L; Gómez-López R; Rivera-Pedroza CI; Santillán-Hernández Y; Chima-Galán MDC; Gutiérrez-Salinas J
    Arch Argent Pediatr; 2018 Dec; 116(6):e773-e777. PubMed ID: 30457735
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Novel mutation in Sjogren-Larsson syndrome is associated with divergent neurologic phenotypes.
    Davis K; Holden KR; S'Aulis D; Amador C; Matheus MG; Rizzo WB
    J Child Neurol; 2013 Oct; 28(10):1259-65. PubMed ID: 23034980
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Compound heterozygous mutations in the
    Liu YD; Lin HJ; Li CY; Sun GF; Hu XB; Ma MY; Sun Y; Feng BZ; Li QB; Kong QX
    Int J Neurosci; 2020 Nov; 130(11):1156-1160. PubMed ID: 31944864
    [No Abstract]   [Full Text] [Related]  

  • 7. Sjögren-Larsson syndrome: molecular genetics and biochemical pathogenesis of fatty aldehyde dehydrogenase deficiency.
    Rizzo WB
    Mol Genet Metab; 2007 Jan; 90(1):1-9. PubMed ID: 16996289
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Ceramide profiling of stratum corneum in Sjögren-Larsson syndrome.
    Arai A; Takeichi T; Wakamoto H; Sassa T; Ito Y; Murase Y; Ogi T; Akiyama M; Kihara A
    J Dermatol Sci; 2022 Sep; 107(3):114-122. PubMed ID: 35973883
    [TBL] [Abstract][Full Text] [Related]  

  • 9. The role of fatty aldehyde dehydrogenase in epidermal structure and function.
    Rizzo WB
    Dermatoendocrinol; 2011 Apr; 3(2):91-9. PubMed ID: 21695018
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Clinical and molecular characterization and response to acitretin in three families with Sjögren-Larsson syndrome.
    Vural S; Vural A; Akçimen F; Bağci IS; Tunca C; Gündoğdu Eken A; Ruzicka T; Başak AN
    Int J Dermatol; 2018 Jul; 57(7):843-848. PubMed ID: 29704247
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Sjögren-Larsson syndrome: diversity of mutations and polymorphisms in the fatty aldehyde dehydrogenase gene (ALDH3A2).
    Rizzo WB; Carney G
    Hum Mutat; 2005 Jul; 26(1):1-10. PubMed ID: 15931689
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Disruption of the Sjögren-Larsson Syndrome Gene Aldh3a2 in Mice Increases Keratinocyte Growth and Retards Skin Barrier Recovery.
    Naganuma T; Takagi S; Kanetake T; Kitamura T; Hattori S; Miyakawa T; Sassa T; Kihara A
    J Biol Chem; 2016 May; 291(22):11676-88. PubMed ID: 27053112
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 1-O-Alkylglycerol accumulation reveals abnormal ether glycerolipid metabolism in Sjögren-Larsson syndrome.
    S'aulis D; Khoury EA; Zabel M; Rizzo WB
    Mol Genet Metab; 2020; 131(1-2):253-258. PubMed ID: 32800643
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Genetic assessment of ten Egyptian patients with Sjögren-Larsson syndrome: expanding the clinical spectrum and reporting a novel ALDH3A2 mutation.
    Amr K; El-Bassyouni HT; Ismail S; Youness E; El-Daly SM; Ebrahim AY; El-Kamah G
    Arch Dermatol Res; 2019 Nov; 311(9):721-730. PubMed ID: 31388754
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Abnormal fatty alcohol metabolism in cultured keratinocytes from patients with Sjögren-Larsson syndrome.
    Rizzo WB; Craft DA; Somer T; Carney G; Trafrova J; Simon M
    J Lipid Res; 2008 Feb; 49(2):410-9. PubMed ID: 17971613
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Novel ALDH3A2 mutations in structural and functional domains of FALDH causing diverse clinical phenotypes in Sjögren-Larsson syndrome patients.
    Rajeshwari M; Karthi S; Singh R; Efthymiou S; Gowda VK; Varalakshmi P; Srinivasan VM; Houlden H; Keller MA; Rizzo WB; Ashokkumar B
    Hum Mutat; 2021 Aug; 42(8):1015-1029. PubMed ID: 34082469
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Incomplete Sjögren-Larsson syndrome in two Japanese siblings.
    Kawakami T; Saito R; Fujikawa Y; Kazama H; Shinomiya N; Yamaguchi K; Yamaguchi Y; Aoki T; Kobayashi T
    Dermatology; 1999; 198(1):93-6. PubMed ID: 10026413
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Sjögren-Larsson syndrome: report of monozygote twins and a case with a novel mutation.
    Yiş U; Terrinoni A
    Turk J Pediatr; 2012; 54(1):64-6. PubMed ID: 22397046
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Novel ALDH3A2 heterozygous mutations are associated with defective lamellar granule formation in a Japanese family of Sjögren-Larsson syndrome.
    Shibaki A; Akiyama M; Shimizu H
    J Invest Dermatol; 2004 Dec; 123(6):1197-9. PubMed ID: 15610535
    [No Abstract]   [Full Text] [Related]  

  • 20. A very rare neurocutaneous disorder in 2 siblings: Sjögren-Larsson syndrome.
    Caglayan AO; Gumus H
    J Child Neurol; 2010 Aug; 25(8):1003-5. PubMed ID: 20142464
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.