BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

143 related articles for article (PubMed ID: 2515391)

  • 1. Cloning of a defective gene encoding the pyruvate dehydrogenase E1 alpha subunit from a patient with its deficiency.
    Endo H; Miyabayashi S; Hasegawa K; Narisawa K; Tada K; Kagawa Y; Ohta S
    J Inherit Metab Dis; 1989; 12(3):363-7. PubMed ID: 2515391
    [No Abstract]   [Full Text] [Related]  

  • 2. [Genetic defect of pyruvate dehydrogenase].
    Koike K; Urata Y
    Tanpakushitsu Kakusan Koso; 1988 Apr; 33(5):663-5. PubMed ID: 3270880
    [No Abstract]   [Full Text] [Related]  

  • 3. Pyruvate dehydrogenase deficiency caused by deletion of a 7-bp repeat sequence in the E1 alpha gene.
    Dahl HH; Maragos C; Brown RM; Hansen LL; Brown GK
    Am J Hum Genet; 1990 Aug; 47(2):286-93. PubMed ID: 2378353
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Mutation of the E1 alpha subunit of the pyruvate dehydrogenase complex, in relation to heterogeneity.
    Kitano A; Endo F; Matsuda I; Miyabayashi S; Dahl HH
    J Inherit Metab Dis; 1989; 12(2):97-107. PubMed ID: 2502681
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Mutation of E1 alpha gene in a female patient with pyruvate dehydrogenase deficiency due to rapid degradation of E1 protein.
    Ito M; Huq AH; Naito E; Saijo T; Takeda E; Kuroda Y
    J Inherit Metab Dis; 1992; 15(6):848-56. PubMed ID: 1338114
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Detection of a homozygous four base pair deletion in the protein X gene in a case of pyruvate dehydrogenase complex deficiency.
    Ling M; McEachern G; Seyda A; MacKay N; Scherer SW; Bratinova S; Beatty B; Giovannucci-Uzielli ML; Robinson BH
    Hum Mol Genet; 1998 Mar; 7(3):501-5. PubMed ID: 9467010
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Mutations in the X-linked E1 alpha subunit of pyruvate dehydrogenase leading to deficiency of the pyruvate dehydrogenase complex.
    Chun K; MacKay N; Petrova-Benedict R; Robinson BH
    Hum Mol Genet; 1993 Apr; 2(4):449-54. PubMed ID: 8504306
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Pyruvate dehydrogenase deficiency in a male caused by a point mutation (F205L) in the E1 alpha subunit.
    Dahl HH; Brown GK
    Hum Mutat; 1994; 3(2):152-5. PubMed ID: 8199595
    [No Abstract]   [Full Text] [Related]  

  • 9. Pyruvate dehydrogenase deficiency caused by a four-nucleotide insertion in the E1 alpha subunit gene.
    Naito E; Ito M; Yokota I; Matsuda J; Yara A; Kuroda Y
    Hum Mol Genet; 1994 Jul; 3(7):1193-4. PubMed ID: 7981697
    [No Abstract]   [Full Text] [Related]  

  • 10. Pyruvate dehydrogenase deficiency caused by a 33 base pair duplication in the PDH E1 alpha subunit.
    Hansen LL; Horn N; Dahl HH; Kruse TA
    Hum Mol Genet; 1994 Jun; 3(6):1021-2. PubMed ID: 7545958
    [No Abstract]   [Full Text] [Related]  

  • 11. A mutation in the E1 alpha subunit of pyruvate dehydrogenase associated with variable expression of pyruvate dehydrogenase complex deficiency.
    Wexler ID; Hemalatha SG; Liu TC; Berry SA; Kerr DS; Patel MS
    Pediatr Res; 1992 Aug; 32(2):169-74. PubMed ID: 1508605
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Mutations in the X-linked E1 alpha subunit of pyruvate dehydrogenase: exon skipping, insertion of duplicate sequence, and missense mutations leading to the deficiency of the pyruvate dehydrogenase complex.
    Chun K; MacKay N; Petrova-Benedict R; Federico A; Fois A; Cole DE; Robertson E; Robinson BH
    Am J Hum Genet; 1995 Mar; 56(3):558-69. PubMed ID: 7887409
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Pyruvate dehydrogenase deficiency in a female due to a 4 base pair deletion in exon 10 of the E1 alpha gene.
    Lissens W; Desguerre I; Benelli C; Marsac C; Fouque F; Haenggeli C; Ponsot G; Seneca S; Liebaers I; De Meirleir L
    Hum Mol Genet; 1995 Feb; 4(2):307-8. PubMed ID: 7757085
    [No Abstract]   [Full Text] [Related]  

  • 14. Mutations and polymorphisms in the pyruvate dehydrogenase E1 alpha gene.
    Dahl HH; Brown GK; Brown RM; Hansen LL; Kerr DS; Wexler ID; Patel MS; De Meirleir L; Lissens W; Chun K
    Hum Mutat; 1992; 1(2):97-102. PubMed ID: 1301207
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Defective gene in lactic acidosis: abnormal pyruvate dehydrogenase E1 alpha-subunit caused by a frame shift.
    Endo H; Hasegawa K; Narisawa K; Tada K; Kagawa Y; Ohta S
    Am J Hum Genet; 1989 Mar; 44(3):358-64. PubMed ID: 2537010
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Characterization of the mutations in three patients with pyruvate dehydrogenase E1 alpha deficiency.
    Hansen LL; Brown GK; Kirby DM; Dahl HH
    J Inherit Metab Dis; 1991; 14(2):140-51. PubMed ID: 1909401
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency.
    Lissens W; De Meirleir L; Seneca S; Liebaers I; Brown GK; Brown RM; Ito M; Naito E; Kuroda Y; Kerr DS; Wexler ID; Patel MS; Robinson BH; Seyda A
    Hum Mutat; 2000; 15(3):209-19. PubMed ID: 10679936
    [TBL] [Abstract][Full Text] [Related]  

  • 18. An amino acid substitution in the pyruvate dehydrogenase E1 alpha gene, affecting mitochondrial import of the precursor protein.
    Takakubo F; Cartwright P; Hoogenraad N; Thorburn DR; Collins F; Lithgow T; Dahl HH
    Am J Hum Genet; 1995 Oct; 57(4):772-80. PubMed ID: 7573035
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Pyruvate dehydrogenase deficiency due to a 20-bp deletion in exon II of the pyruvate dehydrogenase (PDH) E1 alpha gene.
    Chun K; MacKay N; Petrova-Benedict R; Robinson BH
    Am J Hum Genet; 1991 Aug; 49(2):414-20. PubMed ID: 1907799
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Mutation analysis of the pyruvate dehydrogenase E1 alpha gene in eight patients with a pyruvate dehydrogenase complex deficiency.
    Lissens W; De Meirleir L; Seneca S; Benelli C; Marsac C; Poll-The BT; Briones P; Ruitenbeek W; van Diggelen O; Chaigne D; Ramaekers V; Liebaers I
    Hum Mutat; 1996; 7(1):46-51. PubMed ID: 8664900
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.