BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

275 related articles for article (PubMed ID: 11102541)

  • 1. Analysis of exonic mutations leading to exon skipping in patients with pyruvate dehydrogenase E1 alpha deficiency.
    Cardozo AK; De Meirleir L; Liebaers I; Lissens W
    Pediatr Res; 2000 Dec; 48(6):748-53. PubMed ID: 11102541
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A putative exonic splicing enhancer in exon 7 of the PDHA1 gene affects splicing of adjacent exons.
    Ridout CK; Keighley P; Krywawych S; Brown RM; Brown GK
    Hum Mutat; 2008 Mar; 29(3):451. PubMed ID: 18273899
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Aberrant splicing of exon 6 in the pyruvate dehydrogenase-E1 alpha mRNA linked to a silent mutation in a large family with Leigh's encephalomyelopathy.
    De Meirleir L; Lissens W; Benelli C; Ponsot G; Desguerre I; Marsac C; Rodriguez D; Saudubray JM; Poggi F; Liebaers I
    Pediatr Res; 1994 Dec; 36(6):707-12. PubMed ID: 7898978
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. Disruption of exonic splicing enhancer elements is the principal cause of exon skipping associated with seven nonsense or missense alleles of NF1.
    Zatkova A; Messiaen L; Vandenbroucke I; Wieser R; Fonatsch C; Krainer AR; Wimmer K
    Hum Mutat; 2004 Dec; 24(6):491-501. PubMed ID: 15523642
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Two silent substitutions in the PDHA1 gene cause exon 5 skipping by disruption of a putative exonic splicing enhancer.
    Boichard A; Venet L; Naas T; Boutron A; Chevret L; de Baulny HO; De Lonlay P; Legrand A; Nordman P; Brivet M
    Mol Genet Metab; 2008 Mar; 93(3):323-30. PubMed ID: 18023225
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Arginine 302 mutations in the pyruvate dehydrogenase E1alpha subunit gene: identification of further patients and in vitro demonstration of pathogenicity.
    Otero LJ; Brown RM; Brown GK
    Hum Mutat; 1998; 12(2):114-21. PubMed ID: 9671272
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Somatic mosaicism in a male with an exon skipping mutation in PDHA1 of the pyruvate dehydrogenase complex results in a milder phenotype.
    Okajima K; Warman ML; Byrne LC; Kerr DS
    Mol Genet Metab; 2006 Feb; 87(2):162-8. PubMed ID: 16412675
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 protein.
    Imbard A; Boutron A; Vequaud C; Zater M; de Lonlay P; de Baulny HO; Barnerias C; Miné M; Marsac C; Saudubray JM; Brivet M
    Mol Genet Metab; 2011 Dec; 104(4):507-16. PubMed ID: 21914562
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. Familial adenomatous polyposis: aberrant splicing due to missense or silent mutations in the APC gene.
    Aretz S; Uhlhaas S; Sun Y; Pagenstecher C; Mangold E; Caspari R; Möslein G; Schulmann K; Propping P; Friedl W
    Hum Mutat; 2004 Nov; 24(5):370-80. PubMed ID: 15459959
    [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. Defective pre-mRNA splicing in PKD1 due to presumed missense and synonymous mutations causing autosomal dominant polycystic disease.
    Gonzalez-Paredes FJ; Ramos-Trujillo E; Claverie-Martin F
    Gene; 2014 Aug; 546(2):243-9. PubMed ID: 24907393
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Characterization of point mutations in patients with pyruvate dehydrogenase deficiency: role of methionine-181, proline-188, and arginine-349 in the alpha subunit.
    Tripatara A; Korotchkina LG; Patel MS
    Arch Biochem Biophys; 1999 Jul; 367(1):39-50. PubMed ID: 10375397
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of alpha-ketoglutarate dehydrogenase deficiency.
    Odièvre MH; Chretien D; Munnich A; Robinson BH; Dumoulin R; Masmoudi S; Kadhom N; Rötig A; Rustin P; Bonnefont JP
    Hum Mutat; 2005 Mar; 25(3):323-4. PubMed ID: 15712224
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. The SR protein SC35 is responsible for aberrant splicing of the E1alpha pyruvate dehydrogenase mRNA in a case of mental retardation with lactic acidosis.
    Gabut M; Miné M; Marsac C; Brivet M; Tazi J; Soret J
    Mol Cell Biol; 2005 Apr; 25(8):3286-94. PubMed ID: 15798212
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [Pyruvate dehydrogenase deficit associated to the C515T mutation in exon 6 of the E1alpha gene].
    Blanco-Barca O; Gomez-Lado C; Rodrigo-Saez E; Curros-Novos C; Briones-Godino P; Eiris-Punal J; Castro-Gago M
    Rev Neurol; 2006 Sep 16-30; 43(6):341-5. PubMed ID: 16981164
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Characterization of hprt splicing mutations induced by the ultimate carcinogenic metabolite of benzo[a]pyrene in Chinese hamster V-79 cells.
    Hennig EE; Conney AH; Wei SJ
    Cancer Res; 1995 Apr; 55(7):1550-8. PubMed ID: 7882364
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 14.