BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

133 related articles for article (PubMed ID: 7727545)

  • 1. A novel polymorphism in the human acid sphingomyelinase gene due to size variation of the signal peptide region.
    Wan Q; Schuchman EH
    Biochim Biophys Acta; 1995 Apr; 1270(2-3):207-10. PubMed ID: 7727545
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Niemann-Pick disease: a frequent missense mutation in the acid sphingomyelinase gene of Ashkenazi Jewish type A and B patients.
    Levran O; Desnick RJ; Schuchman EH
    Proc Natl Acad Sci U S A; 1991 May; 88(9):3748-52. PubMed ID: 2023926
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Identification and expression of a common missense mutation (L302P) in the acid sphingomyelinase gene of Ashkenazi Jewish type A Niemann-Pick disease patients.
    Levran O; Desnick RJ; Schuchman EH
    Blood; 1992 Oct; 80(8):2081-7. PubMed ID: 1391960
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Identification and expression of five mutations in the human acid sphingomyelinase gene causing types A and B Niemann-Pick disease. Molecular evidence for genetic heterogeneity in the neuronopathic and non-neuronopathic forms.
    Takahashi T; Suchi M; Desnick RJ; Takada G; Schuchman EH
    J Biol Chem; 1992 Jun; 267(18):12552-8. PubMed ID: 1618760
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Identification and expression of a missense mutation (Y446C) in the acid sphingomyelinase gene from a Japanese patient with type A Niemann-Pick disease.
    Takahashi T; Suchi M; Sato W; Ten SB; Sakuragawa N; Desnick RJ; Schuchman EH; Takada G
    Tohoku J Exp Med; 1995 Oct; 177(2):117-23. PubMed ID: 8693491
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Acid sphingomyelinase deficient mice: a model of types A and B Niemann-Pick disease.
    Horinouchi K; Erlich S; Perl DP; Ferlinz K; Bisgaier CL; Sandhoff K; Desnick RJ; Stewart CL; Schuchman EH
    Nat Genet; 1995 Jul; 10(3):288-93. PubMed ID: 7670466
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Niemann-Pick type B disease. Identification of a single codon deletion in the acid sphingomyelinase gene and genotype/phenotype correlations in type A and B patients.
    Levran O; Desnick RJ; Schuchman EH
    J Clin Invest; 1991 Sep; 88(3):806-10. PubMed ID: 1885770
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Imprinting at the SMPD1 locus: implications for acid sphingomyelinase-deficient Niemann-Pick disease.
    Simonaro CM; Park JH; Eliyahu E; Shtraizent N; McGovern MM; Schuchman EH
    Am J Hum Genet; 2006 May; 78(5):865-870. PubMed ID: 16642440
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Retroviral-mediated transfer of the human acid sphingomyelinase cDNA: correction of the metabolic defect in cultured Niemann-Pick disease cells.
    Suchi M; Dinur T; Desnick RJ; Gatt S; Pereira L; Gilboa E; Schuchman EH
    Proc Natl Acad Sci U S A; 1992 Apr; 89(8):3227-31. PubMed ID: 1565614
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Structural organization and complete nucleotide sequence of the gene encoding human acid sphingomyelinase (SMPD1).
    Schuchman EH; Levran O; Pereira LV; Desnick RJ
    Genomics; 1992 Feb; 12(2):197-205. PubMed ID: 1740330
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Type A Niemann-Pick disease: a frameshift mutation in the acid sphingomyelinase gene (fsP330) occurs in Ashkenazi Jewish patients.
    Levran O; Desnick RJ; Schuchman EH
    Hum Mutat; 1993; 2(4):317-9. PubMed ID: 8401540
    [No Abstract]   [Full Text] [Related]  

  • 12. Fluorescence-based selection of retrovirally transduced cells in the absence of a marker gene: direct selection of transduced type B Niemann-Pick disease cells and evidence for bystander correction.
    Yeyati PL; Agmon V; Fillat C; Dinur T; Dagan A; Desnick RJ; Gatt S; Schuchman EH
    Hum Gene Ther; 1995 Aug; 6(8):975-83. PubMed ID: 7578419
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Niemann-Pick disease: mutation update, genotype/phenotype correlations, and prospects for genetic testing.
    Schuchman EH; Miranda SR
    Genet Test; 1997; 1(1):13-9. PubMed ID: 10464620
    [TBL] [Abstract][Full Text] [Related]  

  • 14. The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease.
    Schuchman EH
    Int J Clin Pharmacol Ther; 2009; 47 Suppl 1():S48-57. PubMed ID: 20040312
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Secretion of acid Sphingomyelinase is affected by its polymorphic signal peptide.
    Rhein C; Reichel M; Mühle C; Rotter A; Schwab SG; Kornhuber J
    Cell Physiol Biochem; 2014; 34(4):1385-401. PubMed ID: 25301364
    [TBL] [Abstract][Full Text] [Related]  

  • 16. The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease.
    Schuchman EH
    J Inherit Metab Dis; 2007 Oct; 30(5):654-63. PubMed ID: 17632693
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Spectrum of SMPD1 mutations in Asian-Indian patients with acid sphingomyelinase (ASM)-deficient Niemann-Pick disease.
    Ranganath P; Matta D; Bhavani GS; Wangnekar S; Jain JM; Verma IC; Kabra M; Puri RD; Danda S; Gupta N; Girisha KM; Sankar VH; Patil SJ; Ramadevi AR; Bhat M; Gowrishankar K; Mandal K; Aggarwal S; Tamhankar PM; Tilak P; Phadke SR; Dalal A
    Am J Med Genet A; 2016 Oct; 170(10):2719-30. PubMed ID: 27338287
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Toward gene therapy for Niemann-Pick disease (NPD): separation of retrovirally corrected and noncorrected NPD fibroblasts using a novel fluorescent sphingomyelin.
    Dinur T; Schuchman EH; Fibach E; Dagan A; Suchi M; Desnick RJ; Gatt S
    Hum Gene Ther; 1992 Dec; 3(6):633-9. PubMed ID: 1482703
    [TBL] [Abstract][Full Text] [Related]  

  • 19. The demographics and distribution of type B Niemann-Pick disease: novel mutations lead to new genotype/phenotype correlations.
    Simonaro CM; Desnick RJ; McGovern MM; Wasserstein MP; Schuchman EH
    Am J Hum Genet; 2002 Dec; 71(6):1413-9. PubMed ID: 12369017
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Analysis of the sphingomyelin phosphodiesterase 1 gene (SMPD1) in Turkish Niemann-Pick disease patients: mutation profile and description of a novel mutation.
    Aykut A; Karaca E; Onay H; Ucar SK; Coker M; Cogulu O; Ozkinay F
    Gene; 2013 Sep; 526(2):484-6. PubMed ID: 23618813
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.