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 *

200 related articles for article (PubMed ID: 11241842)

  • 1. Molecular analysis of acid ceramidase deficiency in patients with Farber disease.
    Bär J; Linke T; Ferlinz K; Neumann U; Schuchman EH; Sandhoff K
    Hum Mutat; 2001 Mar; 17(3):199-209. PubMed ID: 11241842
    [TBL] [Abstract][Full Text] [Related]  

  • 2. The human acid ceramidase gene (ASAH): structure, chromosomal location, mutation analysis, and expression.
    Li CM; Park JH; He X; Levy B; Chen F; Arai K; Adler DA; Disteche CM; Koch J; Sandhoff K; Schuchman EH
    Genomics; 1999 Dec; 62(2):223-31. PubMed ID: 10610716
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Human acid ceramidase gene: novel mutations in Farber disease.
    Zhang Z; Mandal AK; Mital A; Popescu N; Zimonjic D; Moser A; Moser H; Mukherjee AB
    Mol Genet Metab; 2000 Aug; 70(4):301-9. PubMed ID: 10993717
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Insertional mutagenesis of the mouse acid ceramidase gene leads to early embryonic lethality in homozygotes and progressive lipid storage disease in heterozygotes.
    Li CM; Park JH; Simonaro CM; He X; Gordon RE; Friedman AH; Ehleiter D; Paris F; Manova K; Hepbildikler S; Fuks Z; Sandhoff K; Kolesnick R; Schuchman EH
    Genomics; 2002 Feb; 79(2):218-24. PubMed ID: 11829492
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A fluorescence-based high-performance liquid chromatographic assay to determine acid ceramidase activity.
    He X; Li CM; Park JH; Dagan A; Gatt S; Schuchman EH
    Anal Biochem; 1999 Oct; 274(2):264-9. PubMed ID: 10527524
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Farber lipogranulomatosis: clinical and molecular genetic analysis reveals a novel mutation in an Indian family.
    Devi ARR; Gopikrishna M; Ratheesh R; Savithri G; Swarnalata G; Bashyam M
    J Hum Genet; 2006; 51(9):811-814. PubMed ID: 16951918
    [TBL] [Abstract][Full Text] [Related]  

  • 7. [Farber disease [Farber lipogranulomatosis], acid ceramidase deficiency].
    Koga M
    Ryoikibetsu Shokogun Shirizu; 1998; (19 Pt 2):389-93. PubMed ID: 9645089
    [No Abstract]   [Full Text] [Related]  

  • 8. Mutation analysis of the acid ceramidase gene in Japanese patients with Farber disease.
    Muramatsu T; Sakai N; Yanagihara I; Yamada M; Nishigaki T; Kokubu C; Tsukamoto H; Ito M; Inui K
    J Inherit Metab Dis; 2002 Nov; 25(7):585-92. PubMed ID: 12638942
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Molecular basis of acid ceramidase deficiency in a neonatal form of Farber disease: identification of the first large deletion in ASAH1 gene.
    Alves MQ; Le Trionnaire E; Ribeiro I; Carpentier S; Harzer K; Levade T; Ribeiro MG
    Mol Genet Metab; 2013 Jul; 109(3):276-81. PubMed ID: 23707712
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency.
    Iacobazzi V; Invernizzi F; Baratta S; Pons R; Chung W; Garavaglia B; Dionisi-Vici C; Ribes A; Parini R; Huertas MD; Roldan S; Lauria G; Palmieri F; Taroni F
    Hum Mutat; 2004 Oct; 24(4):312-20. PubMed ID: 15365988
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Sulfatide and sphingomyelin loading of living cells as tools for the study of ceramide turnover by lysosomal ceramidase--implications for the diagnosis of Farber disease.
    Levade T; Tempesta MC; Moser HW; Fensom AH; Harzer K; Moser AB; Salvayre R
    Biochem Mol Med; 1995 Apr; 54(2):117-25. PubMed ID: 8581356
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Molecular cloning and characterization of a full-length complementary DNA encoding human acid ceramidase. Identification Of the first molecular lesion causing Farber disease.
    Koch J; Gärtner S; Li CM; Quintern LE; Bernardo K; Levran O; Schnabel D; Desnick RJ; Schuchman EH; Sandhoff K
    J Biol Chem; 1996 Dec; 271(51):33110-5. PubMed ID: 8955159
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Model SV40-transformed fibroblast lines for metabolic studies of human prosaposin and acid ceramidase deficiencies.
    Chatelut M; Harzer K; Christomanou H; Feunteun J; Pieraggi MT; Paton BC; Kishimoto Y; O'Brien JS; Basile JP; Thiers JC; Salvayre R; Levade T
    Clin Chim Acta; 1997 Jun; 262(1-2):61-76. PubMed ID: 9204210
    [TBL] [Abstract][Full Text] [Related]  

  • 14. [Farber's lipogranulomatosis].
    Koga M
    Nihon Rinsho; 1995 Dec; 53(12):3009-13. PubMed ID: 8577050
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Overexpression and mass spectrometry analysis of mature human acid ceramidase.
    Schulze H; Schepers U; Sandhoff K
    Biol Chem; 2007 Dec; 388(12):1333-43. PubMed ID: 18020949
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Neurodegenerative course in ceramidase deficiency (Farber disease) correlates with the residual lysosomal ceramide turnover in cultured living patient cells.
    Levade T; Moser HW; Fensom AH; Harzer K; Moser AB; Salvayre R
    J Neurol Sci; 1995 Dec; 134(1-2):108-14. PubMed ID: 8747852
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Glycogenosis type II: identification and expression of three novel mutations in the acid alpha-glucosidase gene causing the infantile form of the disease.
    Montalvo AL; Cariati R; Deganuto M; Guerci V; Garcia R; Ciana G; Bembi B; Pittis MG
    Mol Genet Metab; 2004 Mar; 81(3):203-8. PubMed ID: 14972326
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Molecular analyses of novel ASAH1 mutations causing Farber lipogranulomatosis: analyses of exonic splicing enhancer inactivating mutation.
    Bashyam MD; Chaudhary AK; Kiran M; Reddy V; Nagarajaram HA; Dalal A; Bashyam L; Suri D; Gupta A; Gupta N; Kabra M; Puri RD; RamaDevi R; Kapoor S; Danda S
    Clin Genet; 2014 Dec; 86(6):530-8. PubMed ID: 24355074
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Retrovirus-mediated correction of the metabolic defect in cultured Farber disease cells.
    Medin JA; Takenaka T; Carpentier S; Garcia V; Basile JP; Segui B; Andrieu-Abadie N; Auge N; Salvayre R; Levade T
    Hum Gene Ther; 1999 May; 10(8):1321-9. PubMed ID: 10365663
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Molecular characterization of two novel mutations causing factor XI deficiency: A splicing defect and a missense mutation responsible for a CRM+ defect.
    Guella I; Soldà G; Spena S; Asselta R; Ghiotto R; Tenchini ML; Castaman G; Duga S
    Thromb Haemost; 2008 Mar; 99(3):523-30. PubMed ID: 18327400
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.