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 *

96 related articles for article (PubMed ID: 8841415)

  • 1. Chromosomal localization, genomic structure and characterization of the human gene and a retropseudogene for 6-pyruvoyltetrahydropterin synthase.
    Kluge C; Brecevic L; Heizmann CW; Blau N; Thöny B
    Eur J Biochem; 1996 Sep; 240(2):477-84. PubMed ID: 8841415
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Identification of mutations causing 6-pyruvoyl-tetrahydropterin synthase deficiency in four Italian families.
    Oppliger T; Thöny B; Kluge C; Matasovic A; Heizmann CW; Ponzone A; Spada M; Blau N
    Hum Mutat; 1997; 10(1):25-35. PubMed ID: 9222757
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Hyperphenylalaninemia due to defects in tetrahydrobiopterin metabolism: molecular characterization of mutations in 6-pyruvoyl-tetrahydropterin synthase.
    Thöny B; Leimbacher W; Blau N; Harvie A; Heizmann CW
    Am J Hum Genet; 1994 May; 54(5):782-92. PubMed ID: 8178819
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Isolated central form of tetrahydrobiopterin deficiency associated with hemizygosity on chromosome 11q and a mutant allele of PTPS.
    Blau N; Scherer-Oppliger T; Baumer A; Riegel M; Matasovic A; Schinzel A; Jaeken J; Thöny B
    Hum Mutat; 2000; 16(1):54-60. PubMed ID: 10874306
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A missense mutation (A to G) of 6-pyruvoyltetrahydropterin synthase in tetrahydrobiopterin-deficient form of hyperphenylalaninemia.
    Ashida A; Owada M; Hatakeyama K
    Genomics; 1994 Nov; 24(2):408-10. PubMed ID: 7698774
    [No Abstract]   [Full Text] [Related]  

  • 6. Single-step mutation scanning of the 6-pyruvoyltetrahydropterin synthase gene in patients with hyperphenylalaninemia.
    Romstad A; Guldberg P; Blau N; Güttler F
    Clin Chem; 1999 Dec; 45(12):2102-8. PubMed ID: 10585341
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Chromosomal location of two human genes encoding tetrahydrobiopterin-metabolizing enzymes: 6-pyruvoyl-tetrahydropterin synthase maps to 11q22.3-q23.3, and pterin-4 alpha-carbinolamine dehydratase maps to 10q22.
    Thöny B; Heizmann CW; Mattei MG
    Genomics; 1994 Jan; 19(2):365-8. PubMed ID: 8188266
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Structure, genomic localization and recombinant expression of the mouse 6-pyruvoyl-tetrahydropterin synthase gene.
    Turri MO; Ilg EC; Thöny B; Blau N
    Biol Chem; 1998 Dec; 379(12):1441-7. PubMed ID: 9894812
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Human 6-pyruvoyltetrahydropterin synthase: cDNA cloning and heterologous expression of the recombinant enzyme.
    Thöny B; Leimbacher W; Bürgisser D; Heizmann CW
    Biochem Biophys Res Commun; 1992 Dec; 189(3):1437-43. PubMed ID: 1282802
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Human estrogen receptor-like 1 (ESRL1) gene: genomic organization, chromosomal localization, and promoter characterization.
    Shi H; Shigeta H; Yang N; Fu K; O'Brian G; Teng CT
    Genomics; 1997 Aug; 44(1):52-60. PubMed ID: 9286700
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Structural and functional consequences of mutations in 6-pyruvoyltetrahydropterin synthase causing hyperphenylalaninemia in humans. Phosphorylation is a requirement for in vivo activity.
    Oppliger T; Thöny B; Nar H; Bürgisser D; Huber R; Heizmann CW; Blau N
    J Biol Chem; 1995 Dec; 270(49):29498-506. PubMed ID: 7493990
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Genomic organization and mutational analysis of the human UCP2 gene, a prime candidate gene for human obesity.
    Lentes KU; Tu N; Chen H; Winnikes U; Reinert I; Marmann G; Pirke KM
    J Recept Signal Transduct Res; 1999; 19(1-4):229-44. PubMed ID: 10071761
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Cloning and characterization of ZNF189, a novel human Krüppel-like zinc finger gene localized to chromosome 9q22-q31.
    Odeberg J; Røsok O; Gudmundsson GH; Ahmadian A; Roshani L; Williams C; Larsson C; Pontén F; Uhlén M; Asheim HC; Lundeberg J
    Genomics; 1998 Jun; 50(2):213-21. PubMed ID: 9653648
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Mapping and characterization of the mouse and human SS18 genes, two human SS18-like genes and a mouse Ss18 pseudogene.
    de Bruijn DR; Kater-Baats E; Eleveld M; Merkx G; Geurts Van Kessel A
    Cytogenet Cell Genet; 2001; 92(3-4):310-9. PubMed ID: 11435705
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Genomic structure and chromosomal mapping of the nuclear orphan receptor ROR gamma (RORC) gene.
    Medvedev A; Chistokhina A; Hirose T; Jetten AM
    Genomics; 1997 Nov; 46(1):93-102. PubMed ID: 9403063
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Genomic structure, chromosomal localization, and expression of human cathepsin W.
    Wex T; Levy B; Smeekens SP; Ansorge S; Desnick RJ; Bromme D
    Biochem Biophys Res Commun; 1998 Jul; 248(2):255-61. PubMed ID: 9675123
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Genomic organization, 5'-flanking region, and chromosomal localization of the human RGS3 gene.
    Chatterjee TK; Eapen A; Kanis AB; Fisher RA
    Genomics; 1997 Oct; 45(2):429-33. PubMed ID: 9344672
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Genomic organization and mapping of the gene (SLC25A19) encoding the human mitochondrial deoxynucleotide carrier (DNC).
    Iacobazzi V; Ventura M; Fiermonte G; Prezioso G; Rocchi M; Palmieri F
    Cytogenet Cell Genet; 2001; 93(1-2):40-2. PubMed ID: 11474176
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Genomic organization of the human ubiquitin-conjugating enzyme gene, UBE2L6 on chromosome 11q12.
    Ardley HC; Rose SA; Tan N; Leek JP; Markham AF; Robinson PA
    Cytogenet Cell Genet; 2000; 89(1-2):137-40. PubMed ID: 10894956
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Hyperphenylalaninemia due to deficiency of 6-pyruvoyl tetrahydropterin synthase. Unusual gene dosage effect in heterozygotes.
    Scriver CR; Clow CL; Kaplan P; Niederwieser A
    Hum Genet; 1987 Oct; 77(2):168-71. PubMed ID: 3308682
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 5.