BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

305 related articles for article (PubMed ID: 25179834)

  • 41. Studies in porphyria: functional evidence for a partial deficiency of ferrochelatase activity in mitogen-stimulated lymphocytes from patients with erythropoietic protoporphyria.
    Sassa S; Zalar GL; Poh-Fitzpatrick MB; Anderson KE; Kappas A
    J Clin Invest; 1982 Apr; 69(4):809-15. PubMed ID: 6804493
    [TBL] [Abstract][Full Text] [Related]  

  • 42. Antisense oligonucleotide-based therapy in human erythropoietic protoporphyria.
    Oustric V; Manceau H; Ducamp S; Soaid R; Karim Z; Schmitt C; Mirmiran A; Peoc'h K; Grandchamp B; Beaumont C; Lyoumi S; Moreau-Gaudry F; Guyonnet-Dupérat V; de Verneuil H; Marie J; Puy H; Deybach JC; Gouya L
    Am J Hum Genet; 2014 Apr; 94(4):611-7. PubMed ID: 24680888
    [TBL] [Abstract][Full Text] [Related]  

  • 43. Studies in porphyria IX: Detection of the gene defect of erythropoietic protoporphyria in mitogen-stimulated human lymphocytes.
    Sassa S; Zalar GL; Poh-Fitzpatrick MB; Kappas A
    Trans Assoc Am Physicians; 1979; 92():268-76. PubMed ID: 549253
    [TBL] [Abstract][Full Text] [Related]  

  • 44. Liver metabolomics in a mouse model of erythropoietic protoporphyria.
    Wang P; Sachar M; Guo GL; Shehu AI; Lu J; Zhong XB; Ma X
    Biochem Pharmacol; 2018 Aug; 154():474-481. PubMed ID: 29906468
    [TBL] [Abstract][Full Text] [Related]  

  • 45. Late presentation of erythropoietic protoporphyria: case report and genetic analysis of family members.
    Berroeta L; Man I; Goudie DR; Whatley SD; Elder GH; Ibbotson SH
    Br J Dermatol; 2007 Nov; 157(5):1030-1. PubMed ID: 17711525
    [TBL] [Abstract][Full Text] [Related]  

  • 46. Accumulation of protoporphyrin IX from delta-aminolevulinic acid in bovine skin fibroblasts with hereditary erythropoietic protoporphyria. A gene-dosage effect.
    Sassa S; Schwartz S; Ruth G
    J Exp Med; 1981 May; 153(5):1094-101. PubMed ID: 6788885
    [TBL] [Abstract][Full Text] [Related]  

  • 47. Clinical and molecular epidemiology of erythropoietic protoporphyria in Italy.
    Ventura P; Brancaleoni V; Di Pierro E; Graziadei G; Macrì A; Carmine Guida C; Nicolli A; Rossi MT; Granata F; Fiorentino V; Fustinoni S; Sala R; Pinton PC; Trevisan A; Marchini S; Cuoghi C; Marcacci M; Corradini E; Sorge F; Aurizi C; Savino MG; Cappellini MD; Pietrangelo A
    Eur J Dermatol; 2020 Oct; 30(5):532-540. PubMed ID: 33021473
    [TBL] [Abstract][Full Text] [Related]  

  • 48. Biochemical and molecular diagnosis of erythropoietic protoporphyria in an Ashkenazi Jewish family.
    Schneider-Yin X; Mamet R; Minder EI; Schoenfeld N
    J Inherit Metab Dis; 2008 Dec; 31 Suppl 2():S363-7. PubMed ID: 18758989
    [TBL] [Abstract][Full Text] [Related]  

  • 49. Incomplete erythropoietic protoporphyria caused by a splice site modulator homozygous IVS3-48C polymorphism in the ferrochelatase gene.
    Mizawa M; Makino T; Nakano H; Sawamura D; Shimizu T
    Br J Dermatol; 2016 Jan; 174(1):172-5. PubMed ID: 26280465
    [TBL] [Abstract][Full Text] [Related]  

  • 50. Ferrochelatase binds the iron-responsive element present in the erythroid 5-aminolevulinate synthase mRNA.
    Ferreira GC
    Biochem Biophys Res Commun; 1995 Sep; 214(3):875-8. PubMed ID: 7575558
    [TBL] [Abstract][Full Text] [Related]  

  • 51. Gene dosage analysis identifies large deletions of the FECH gene in 10% of families with erythropoietic protoporphyria.
    Whatley SD; Mason NG; Holme SA; Anstey AV; Elder GH; Badminton MN
    J Invest Dermatol; 2007 Dec; 127(12):2790-4. PubMed ID: 17597821
    [TBL] [Abstract][Full Text] [Related]  

  • 52. Iron availability modulates aberrant splicing of ferrochelatase through the iron- and 2-oxoglutarate dependent dioxygenase Jmjd6 and U2AF(65.).
    Barman-Aksözen J; Béguin C; Dogar AM; Schneider-Yin X; Minder EI
    Blood Cells Mol Dis; 2013 Oct; 51(3):151-61. PubMed ID: 23787363
    [TBL] [Abstract][Full Text] [Related]  

  • 53. Clinical, biochemical, and genetic study of 11 patients with erythropoietic protoporphyria including one with homozygous disease.
    Herrero C; To-Figueras J; Badenas C; Méndez M; Serrano P; Enríquez-Salamanca R; Lecha M
    Arch Dermatol; 2007 Sep; 143(9):1125-9. PubMed ID: 17875872
    [TBL] [Abstract][Full Text] [Related]  

  • 54. Alteration of mRNA levels of delta-aminolevulinic acid synthase, ferrochelatase and heme oxygenase-1 in griseofulvin induced protoporphyria mice.
    Inafuku K; Takamiyagi A; Oshiro M; Kinjo T; Nakashima Y; Nonaka S
    J Dermatol Sci; 1999 Apr; 19(3):189-98. PubMed ID: 10215191
    [TBL] [Abstract][Full Text] [Related]  

  • 55. Erythropoietic protoporphyria: a family study and report of a novel mutation in the FECH gene.
    Morais P; Mota A; Baudrier T; Trigo F; Oliveira JP; Cerqueira R; Palmeiro A; Tavares P; Azevedo F
    Eur J Dermatol; 2011; 21(4):479-83. PubMed ID: 21659066
    [TBL] [Abstract][Full Text] [Related]  

  • 56. The penetrance of dominant erythropoietic protoporphyria is modulated by expression of wildtype FECH.
    Gouya L; Puy H; Robreau AM; Bourgeois M; Lamoril J; Da Silva V; Grandchamp B; Deybach JC
    Nat Genet; 2002 Jan; 30(1):27-8. PubMed ID: 11753383
    [TBL] [Abstract][Full Text] [Related]  

  • 57. Over expression of 5-aminolevulinic acid synthase 2 increased protoporphyrin IX in nonerythroid cells.
    Huang H; Wang W; Zou J; Nakajima O; Zhang L; He Q; Diao Y; Liang H; Zhou L; Peng Y
    Photodiagnosis Photodyn Ther; 2017 Mar; 17():22-28. PubMed ID: 27777144
    [TBL] [Abstract][Full Text] [Related]  

  • 58. Inactivation of protoporphyrin IX in erythrocytes in patients with erythropoietic protoporphyria: A new treatment modality.
    Wulf HC; Nissen CV; Philipsen PA
    Photodiagnosis Photodyn Ther; 2020 Mar; 29():101582. PubMed ID: 31809913
    [TBL] [Abstract][Full Text] [Related]  

  • 59. A pilot study of oral iron therapy in erythropoietic protoporphyria and X-linked protoporphyria.
    Balwani M; Naik H; Overbey JR; Bonkovsky HL; Bissell DM; Wang B; Phillips JD; Desnick RJ; Anderson KE
    Mol Genet Metab Rep; 2022 Dec; 33():100939. PubMed ID: 36406817
    [TBL] [Abstract][Full Text] [Related]  

  • 60. Iron chelation rescues hemolytic anemia and skin photosensitivity in congenital erythropoietic porphyria.
    Blouin JM; Ged C; Lalanne M; Lamrissi-Garcia I; Morice-Picard F; Costet P; Daher R; Moreau-Gaudry F; Bedel A; Puy H; Gouya L; Karim Z; Richard E
    Blood; 2020 Nov; 136(21):2457-2468. PubMed ID: 32678895
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 16.