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 *

178 related articles for article (PubMed ID: 7668255)

  • 1. A novel point mutation in a 3' splice site of the NADH-cytochrome b5 reductase gene results in immunologically undetectable enzyme and impaired NADH-dependent ascorbate regeneration in cultured fibroblasts of a patient with type II hereditary methemoglobinemia.
    Shirabe K; Landi MT; Takeshita M; Uziel G; Fedrizzi E; Borgese N
    Am J Hum Genet; 1995 Aug; 57(2):302-10. PubMed ID: 7668255
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Molecular basis of recessive congenital methemoglobinemia, types I and II: Exon skipping and three novel missense mutations in the NADH-cytochrome b5 reductase (diaphorase 1) gene.
    Kugler W; Pekrun A; Laspe P; Erdlenbruch B; Lakomek M
    Hum Mutat; 2001 Apr; 17(4):348. PubMed ID: 11295830
    [TBL] [Abstract][Full Text] [Related]  

  • 3. [Leu 72 Pro mutation in the NADH-cytochrome b5 reductase gene found in a Chinese hereditary methemoglobinemia patient].
    Wu Y; Huang C; Zhu Z
    Zhonghua Xue Ye Xue Za Zhi; 1998 Apr; 19(4):195-7. PubMed ID: 11243135
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Two novel mutations in the reduced nicotinamide adenine dinucleotide (NADH)-cytochrome b5 reductase gene of a patient with generalized type, hereditary methemoglobinemia.
    Manabe J; Arya R; Sumimoto H; Yubisui T; Bellingham AJ; Layton DM; Fukumaki Y
    Blood; 1996 Oct; 88(8):3208-15. PubMed ID: 8874222
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Serine-proline replacement at residue 127 of NADH-cytochrome b5 reductase causes hereditary methemoglobinemia, generalized type.
    Kobayashi Y; Fukumaki Y; Yubisui T; Inoue J; Sakaki Y
    Blood; 1990 Apr; 75(7):1408-13. PubMed ID: 2107882
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Analysis of mutant NADH-cytochrome b5 reductase: apparent "type III" methemoglobinemia can be explained as type I with an unstable reductase.
    Nagai T; Shirabe K; Yubisui T; Takeshita M
    Blood; 1993 Feb; 81(3):808-14. PubMed ID: 8427971
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Four new mutations in the NADH-cytochrome b5 reductase gene from patients with recessive congenital methemoglobinemia type II.
    Vieira LM; Kaplan JC; Kahn A; Leroux A
    Blood; 1995 Apr; 85(8):2254-62. PubMed ID: 7718898
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Identification of a novel point mutation (Leu72Pro) in the NADH-cytochrome b5 reductase gene of a patient with hereditary methaemoglobinaemia type I.
    Wu YS; Huang CH; Wan Y; Huang QJ; Zhu ZY
    Br J Haematol; 1998 Jul; 102(2):575-7. PubMed ID: 9695975
    [TBL] [Abstract][Full Text] [Related]  

  • 9. [Molecular analysis of the structure of the mutant NADH-cytochrome b5 reductase gene causing methemoglobinemia].
    Kobayashi Y
    Fukuoka Igaku Zasshi; 1990 Jan; 81(1):41-7. PubMed ID: 2323714
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A novel mutation in the NADH-cytochrome b5 reductase gene of a Chinese patient with recessive congenital methemoglobinemia.
    Wang Y; Wu YS; Zheng PZ; Yang WX; Fang GA; Tang YC; Xie F; Lan FH; Zhu ZY
    Blood; 2000 May; 95(10):3250-5. PubMed ID: 10807796
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A novel mutation found in the 3' domain of NADH-cytochrome B5 reductase in an African-American family with type I congenital methemoglobinemia.
    Jenkins MM; Prchal JT
    Blood; 1996 Apr; 87(7):2993-9. PubMed ID: 8639921
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Enzymatic instability of NADH-cytochrome b5 reductase as a cause of hereditary methemoglobinemia type I (red cell type).
    Shirabe K; Yubisui T; Borgese N; Tang CY; Hultquist DE; Takeshita M
    J Biol Chem; 1992 Oct; 267(28):20416-21. PubMed ID: 1400360
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Seven new mutations in the nicotinamide adenine dinucleotide reduced-cytochrome b(5) reductase gene leading to methemoglobinemia type I.
    Dekker J; Eppink MH; van Zwieten R; de Rijk T; Remacha AF; Law LK; Li AM; Cheung KL; van Berkel WJ; Roos D
    Blood; 2001 Feb; 97(4):1106-14. PubMed ID: 11159544
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A compound heterozygote in the NADH-cytochrome b5 reductase gene from a Chinese patient with hereditary methemoglobinemia type I.
    Wu YS; Wang Y; Huang CH; Lan FH; Zhu ZY
    Int J Hematol; 2000 Jul; 72(1):34-6. PubMed ID: 10979206
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Exonic point mutations in NADH-cytochrome B5 reductase genes of homozygotes for hereditary methemoglobinemia, types I and III: putative mechanisms of tissue-dependent enzyme deficiency.
    Katsube T; Sakamoto N; Kobayashi Y; Seki R; Hirano M; Tanishima K; Tomoda A; Takazakura E; Yubisui T; Takeshita M
    Am J Hum Genet; 1991 Apr; 48(4):799-808. PubMed ID: 1707593
    [TBL] [Abstract][Full Text] [Related]  

  • 16. An in-frame deletion of codon 298 of the NADH-cytochrome b5 reductase gene results in hereditary methemoglobinemia type II (generalized type). A functional implication for the role of the COOH-terminal region of the enzyme.
    Shirabe K; Fujimoto Y; Yubisui T; Takeshita M
    J Biol Chem; 1994 Feb; 269(8):5952-7. PubMed ID: 8119939
    [TBL] [Abstract][Full Text] [Related]  

  • 17. New variant of cytochrome b5 reductase deficiency (b5RKurashiki) in red cells, platelets, lymphocytes, and cultured fibroblasts with congenital methemoglobinemia, mental and neurological retardation, and skeletal anomalies.
    Yawata Y; Ding L; Tanishima K; Tomoda A
    Am J Hematol; 1992 Aug; 40(4):299-305. PubMed ID: 1503085
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [A novel point mutation in NADH-cytochrome b5 reductase gene].
    Wang Y; Wu Y; Yang W
    Zhonghua Xue Ye Xue Za Zhi; 1999 Oct; 20(10):521-3. PubMed ID: 11721397
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A case of methemoglobinemia type II due to NADH-cytochrome b5 reductase deficiency: determination of the molecular basis.
    Aalfs CM; Salieb-Beugelaar GB; Wanders RJ; Mannens MM; Wijburg FA
    Hum Mutat; 2000; 16(1):18-22. PubMed ID: 10874300
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Molecular basis of hereditary methaemoglobinaemia, types I and II: two novel mutations in the NADH-cytochrome b5 reductase gene.
    Higasa K; Manabe JI; Yubisui T; Sumimoto H; Pung-Amritt P; Tanphaichitr VS; Fukumaki Y
    Br J Haematol; 1998 Dec; 103(4):922-30. PubMed ID: 9886302
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.