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 *

159 related articles for article (PubMed ID: 2394825)

  • 1. Molecular basis of medium chain acyl-coenzyme A dehydrogenase deficiency. An A to G transition at position 985 that causes a lysine-304 to glutamate substitution in the mature protein is the single prevalent mutation.
    Yokota I; Indo Y; Coates PM; Tanaka K
    J Clin Invest; 1990 Sep; 86(3):1000-3. PubMed ID: 2394825
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Molecular characterization of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: identification of a lys329 to glu mutation in the MCAD gene, and expression of inactive mutant enzyme protein in E. coli.
    Gregersen N; Andresen BS; Bross P; Winter V; Rüdiger N; Engst S; Christensen E; Kelly D; Strauss AW; Kølvraa S
    Hum Genet; 1991 Apr; 86(6):545-51. PubMed ID: 1902818
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A rare disease-associated mutation in the medium-chain acyl-CoA dehydrogenase (MCAD) gene changes a conserved arginine, previously shown to be functionally essential in short-chain acyl-CoA dehydrogenase (SCAD).
    Andresen BS; Bross P; Jensen TG; Winter V; Knudsen I; Kølvraa S; Jensen UB; Bolund L; Duran M; Kim JJ
    Am J Hum Genet; 1993 Sep; 53(3):730-9. PubMed ID: 8102510
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Identification of a common mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency.
    Matsubara Y; Narisawa K; Miyabayashi S; Tada K; Coates PM; Bachmann C; Elsas LJ; Pollitt RJ; Rhead WJ; Roe CR
    Biochem Biophys Res Commun; 1990 Aug; 171(1):498-505. PubMed ID: 2393404
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Mutations in the medium chain acyl-CoA dehydrogenase (MCAD) gene.
    Tanaka K; Yokota I; Coates PM; Strauss AW; Kelly DP; Zhang Z; Gregersen N; Andresen BS; Matsubara Y; Curtis D
    Hum Mutat; 1992; 1(4):271-9. PubMed ID: 1363805
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Three RFLPs defining a haplotype associated with the common mutation in human medium-chain acyl-CoA dehydrogenase (MCAD) deficiency occur in Alu repeats.
    Zhang Z; Kolvraa S; Zhou Y; Kelly DP; Gregersen N; Strauss AW
    Am J Hum Genet; 1993 Jun; 52(6):1111-21. PubMed ID: 8099254
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Molecular characterization of inherited medium-chain acyl-CoA dehydrogenase deficiency.
    Kelly DP; Whelan AJ; Ogden ML; Alpers R; Zhang ZF; Bellus G; Gregersen N; Dorland L; Strauss AW
    Proc Natl Acad Sci U S A; 1990 Dec; 87(23):9236-40. PubMed ID: 2251268
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Molecular survey of a prevalent mutation, 985A-to-G transition, and identification of five infrequent mutations in the medium-chain Acyl-CoA dehydrogenase (MCAD) gene in 55 patients with MCAD deficiency.
    Yokota I; Coates PM; Hale DE; Rinaldo P; Tanaka K
    Am J Hum Genet; 1991 Dec; 49(6):1280-91. PubMed ID: 1684086
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Disease-causing mutations in exon 11 of the medium-chain acyl-CoA dehydrogenase gene.
    Andresen BS; Jensen TG; Bross P; Knudsen I; Winter V; Kølvraa S; Bolund L; Ding JH; Chen YT; Van Hove JL
    Am J Hum Genet; 1994 Jun; 54(6):975-88. PubMed ID: 8198141
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Identification of two variant short chain acyl-coenzyme A dehydrogenase alleles, each containing a different point mutation in a patient with short chain acyl-coenzyme A dehydrogenase deficiency.
    Naito E; Indo Y; Tanaka K
    J Clin Invest; 1990 May; 85(5):1575-82. PubMed ID: 1692038
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A novel mutation in medium chain acyl-CoA dehydrogenase causes sudden neonatal death.
    Brackett JC; Sims HF; Steiner RD; Nunge M; Zimmerman EM; deMartinville B; Rinaldo P; Slaugh R; Strauss AW
    J Clin Invest; 1994 Oct; 94(4):1477-83. PubMed ID: 7929823
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Molecular diagnosis and characterization of medium-chain acyl-CoA dehydrogenase deficiency.
    Andresen BS; Bross P; Jensen TG; Knudsen I; Winter V; Kølvraa S; Bolund L; Gregersen N
    Scand J Clin Lab Invest Suppl; 1995; 220():9-25. PubMed ID: 7652482
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Expression and characterization of human mutant (glutamic acid304) medium-chain acyl-coenzyme A dehydrogenase in mammalian cells.
    Whelan AJ; Strauss AW; Hale DE; Mendelsohn NJ; Kelly DP
    Pediatr Res; 1993 Nov; 34(5):694-7. PubMed ID: 8284112
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Identification of a new mutation in medium-chain acyl-CoA dehydrogenase (MCAD) deficiency.
    Ding JH; Yang BZ; Bao Y; Roe CR; Chen YT
    Am J Hum Genet; 1992 Jan; 50(1):229-33. PubMed ID: 1729890
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Biosynthesis of variant medium chain acyl-CoA dehydrogenase in cultured fibroblasts from patients with medium chain acyl-CoA dehydrogenase deficiency.
    Ikeda Y; Hale DE; Keese SM; Coates PM; Tanaka K
    Pediatr Res; 1986 Sep; 20(9):843-7. PubMed ID: 3748657
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Improved PCR/NcoI method for the molecular diagnosis of medium chain acyl-CoA dehydrogenase deficiency using dried blood samples: two-stage amplification using two different sets of primers improves accuracy and sensitivity.
    Nagao M; Raymond D; Kim J; Tanaka K
    Clin Chim Acta; 1993 Nov; 220(2):165-74. PubMed ID: 8111961
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Impaired tetramer assembly of variant medium-chain acyl-coenzyme A dehydrogenase with a glutamate or aspartate substitution for lysine 304 causing instability of the protein.
    Yokota I; Saijo T; Vockley J; Tanaka K
    J Biol Chem; 1992 Dec; 267(36):26004-10. PubMed ID: 1361190
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Specific diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in dried blood spots by a polymerase chain reaction (PCR) assay detecting a point-mutation (G985) in the MCAD gene.
    Gregersen N; Blakemore AI; Winter V; Andresen B; Kølvraa S; Bolund L; Curtis D; Engel PC
    Clin Chim Acta; 1991 Nov; 203(1):23-34. PubMed ID: 1769118
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Laboratory diagnosis of medium-chain acyl-coenzyme A dehydrogenase deficiency by the amplification refractory mutation system.
    Tsai MY; Schwichtenberg K; Tuchman M
    Clin Chem; 1993 Feb; 39(2):280-3. PubMed ID: 8432018
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Frequency of medium-chain acyl-CoA dehydrogenase deficiency G-985 mutation in sudden infant death syndrome.
    Miller ME; Brooks JG; Forbes N; Insel R
    Pediatr Res; 1992 Apr; 31(4 Pt 1):305-7. PubMed ID: 1570195
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.