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 *

236 related articles for article (PubMed ID: 11245989)

  • 1. cDNA cloning, mapping and expression of the mouse propionyl CoA carboxylase beta (pccb), the gene for human type II propionic acidaemia.
    Schrick JJ; Lingrel JB
    Gene; 2001 Feb; 264(1):147-52. PubMed ID: 11245989
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Isolation of cDNA clones coding for the alpha and beta chains of human propionyl-CoA carboxylase: chromosomal assignments and DNA polymorphisms associated with PCCA and PCCB genes.
    Lamhonwah AM; Barankiewicz TJ; Willard HF; Mahuran DJ; Quan F; Gravel RA
    Proc Natl Acad Sci U S A; 1986 Jul; 83(13):4864-8. PubMed ID: 3460076
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Functional analysis of PCCB mutations causing propionic acidemia based on expression studies in deficient human skin fibroblasts.
    Pérez-Cerdá C; Clavero S; Pérez B; Rodríguez-Pombo P; Desviat LR; Ugarte M
    Biochim Biophys Acta; 2003 May; 1638(1):43-9. PubMed ID: 12757933
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Correction of the metabolic defect in propionic acidemia fibroblasts by microinjection of a full-length cDNA or RNA transcript encoding the propionyl-CoA carboxylase beta subunit.
    Lamhonwah AM; Leclerc D; Loyer M; Clarizio R; Gravel RA
    Genomics; 1994 Feb; 19(3):500-5. PubMed ID: 8188292
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Propionic acidemia: analysis of mutant propionyl-CoA carboxylase enzymes expressed in Escherichia coli.
    Chloupkova M; Maclean KN; Alkhateeb A; Kraus JP
    Hum Mutat; 2002 Jun; 19(6):629-40. PubMed ID: 12007220
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Interallelic complementation of beta-subunit defects in fibroblasts of patients with propionyl-CoA carboxylase deficiency microinjected with mutant cDNA constructs.
    Loyer M; Leclerc D; Gravel RA
    Hum Mol Genet; 1995 Jun; 4(6):1035-9. PubMed ID: 7655456
    [TBL] [Abstract][Full Text] [Related]  

  • 7. The molecular defect in propionic acidemia: exon skipping caused by an 8-bp deletion from an intron in the PCCB allele.
    Ohura T; Ogasawara M; Ikeda H; Narisawa K; Tada K
    Hum Genet; 1993 Oct; 92(4):397-402. PubMed ID: 8225321
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Three novel splice mutations in the PCCA gene causing identical exon skipping in propionic acidemia patients.
    Richard E; Desviat LR; Pérez B; Pérez-Cerdá C; Ugarte M
    Hum Genet; 1997 Nov; 101(1):93-6. PubMed ID: 9385377
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Overview of mutations in the PCCA and PCCB genes causing propionic acidemia.
    Ugarte M; Pérez-Cerdá C; Rodríguez-Pombo P; Desviat LR; Pérez B; Richard E; Muro S; Campeau E; Ohura T; Gravel RA
    Hum Mutat; 1999; 14(4):275-82. PubMed ID: 10502773
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Identification of novel mutations in the PCCB gene in European propionic acidemia patients. Mutation in brief no. 253. Online.
    Muro S; Rodríguez-Pombo P; Pérez B; Pérez-Cerdá C; Desviat LR; Sperl W; Skladal D; Sass JO; Ugarte M
    Hum Mutat; 1999; 14(1):89-90. PubMed ID: 10447268
    [TBL] [Abstract][Full Text] [Related]  

  • 11. High incidence of propionic acidemia in greenland is due to a prevalent mutation, 1540insCCC, in the gene for the beta-subunit of propionyl CoA carboxylase.
    Ravn K; Chloupkova M; Christensen E; Brandt NJ; Simonsen H; Kraus JP; Nielsen IM; Skovby F; Schwartz M
    Am J Hum Genet; 2000 Jul; 67(1):203-6. PubMed ID: 10820128
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Two distinct mutations at the same site in the PCCB gene in propionic acidemia.
    Lamhonwah AM; Troxel CE; Schuster S; Gravel RA
    Genomics; 1990 Oct; 8(2):249-54. PubMed ID: 2249848
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Mutations participating in interallelic complementation in propionic acidemia.
    Gravel RA; Akerman BR; Lamhonwah AM; Loyer M; Léon-del-Rio A; Italiano I
    Am J Hum Genet; 1994 Jul; 55(1):51-8. PubMed ID: 8023851
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Molecular analysis of PCCB gene in Korean patients with propionic acidemia.
    Kim SN; Ryu KH; Lee EH; Kim JS; Hahn SH
    Mol Genet Metab; 2002 Nov; 77(3):209-16. PubMed ID: 12409268
    [TBL] [Abstract][Full Text] [Related]  

  • 15. The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism.
    Gallardo ME; Desviat LR; Rodríguez JM; Esparza-Gordillo J; Pérez-Cerdá C; Pérez B; Rodríguez-Pombo P; Criado O; Sanz R; Morton DH; Gibson KM; Le TP; Ribes A; de Córdoba SR; Ugarte M; Peñalva MA
    Am J Hum Genet; 2001 Feb; 68(2):334-46. PubMed ID: 11170888
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Structure of the PCCA gene and distribution of mutations causing propionic acidemia.
    Campeau E; Desviat LR; Leclerc D; Wu X; Pérez B; Ugarte M; Gravel RA
    Mol Genet Metab; 2001; 74(1-2):238-47. PubMed ID: 11592820
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Mutation spectrum of the PCCA and PCCB genes in Japanese patients with propionic acidemia.
    Yang X; Sakamoto O; Matsubara Y; Kure S; Suzuki Y; Aoki Y; Yamaguchi S; Takahashi Y; Nishikubo T; Kawaguchi C; Yoshioka A; Kimura T; Hayasaka K; Kohno Y; Iinuma K; Ohura T
    Mol Genet Metab; 2004 Apr; 81(4):335-42. PubMed ID: 15059621
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Towards a model to explain the intragenic complementation in the heteromultimeric protein propionyl-CoA carboxylase.
    Rodríguez-Pombo P; Pérez-Cerdá C; Pérez B; Desviat LR; Sánchez-Pulido L; Ugarte M
    Biochim Biophys Acta; 2005 Jun; 1740(3):489-98. PubMed ID: 15949719
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Coding sequence mutations in the alpha subunit of propionyl-CoA carboxylase in patients with propionic acidemia.
    Campeau E; Dupuis L; León-Del-Rio A; Gravel R
    Mol Genet Metab; 1999 May; 67(1):11-22. PubMed ID: 10329019
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Propionic acidemia: mutation update and functional and structural effects of the variant alleles.
    Desviat LR; Pérez B; Pérez-Cerdá C; Rodríguez-Pombo P; Clavero S; Ugarte M
    Mol Genet Metab; 2004; 83(1-2):28-37. PubMed ID: 15464417
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.