BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

301 related articles for article (PubMed ID: 35054318)

  • 1. Recognized and Emerging Features of Erythropoietic and X-Linked Protoporphyria.
    Di Pierro E; Granata F; De Canio M; Rossi M; Ricci A; Marcacci M; De Luca G; Sarno L; Barbieri L; Ventura P; Graziadei G
    Diagnostics (Basel); 2022 Jan; 12(1):. PubMed ID: 35054318
    [TBL] [Abstract][Full Text] [Related]  

  • 2. In ferrochelatase-deficient protoporphyria patients, ALAS2 expression is enhanced and erythrocytic protoporphyrin concentration correlates with iron availability.
    Barman-Aksözen J; Minder EI; Schubiger C; Biolcati G; Schneider-Yin X
    Blood Cells Mol Dis; 2015 Jan; 54(1):71-7. PubMed ID: 25179834
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Loss-of-function ferrochelatase and gain-of-function erythroid-specific 5-aminolevulinate synthase mutations causing erythropoietic protoporphyria and x-linked protoporphyria in North American patients reveal novel mutations and a high prevalence of X-linked protoporphyria.
    Balwani M; Doheny D; Bishop DF; Nazarenko I; Yasuda M; Dailey HA; Anderson KE; Bissell DM; Bloomer J; Bonkovsky HL; Phillips JD; Liu L; Desnick RJ;
    Mol Med; 2013 Apr; 19(1):26-35. PubMed ID: 23364466
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Clinical, Biochemical, and Genetic Characterization of North American Patients With Erythropoietic Protoporphyria and X-linked Protoporphyria.
    Balwani M; Naik H; Anderson KE; Bissell DM; Bloomer J; Bonkovsky HL; Phillips JD; Overbey JR; Wang B; Singal AK; Liu LU; Desnick RJ
    JAMA Dermatol; 2017 Aug; 153(8):789-796. PubMed ID: 28614581
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Erythropoietic protoporphyria.
    Lecha M; Puy H; Deybach JC
    Orphanet J Rare Dis; 2009 Sep; 4():19. PubMed ID: 19744342
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Delta-aminolevulinic acid synthase 2 expression in combination with iron as modifiers of disease severity in erythropoietic protoporphyria.
    Barman-Aksözen J; Halloy F; Iyer PS; Schümperli D; Minder AE; Hall J; Minder EI; Schneider-Yin X
    Mol Genet Metab; 2019 Nov; 128(3):304-308. PubMed ID: 31076252
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Erythropoietic Protoporphyria and X-Linked Protoporphyria: pathophysiology, genetics, clinical manifestations, and management.
    Balwani M
    Mol Genet Metab; 2019 Nov; 128(3):298-303. PubMed ID: 30704898
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Congenital erythropoietic porphyria and erythropoietic protoporphyria: Identification of 7 uroporphyrinogen III synthase and 20 ferrochelatase novel mutations.
    Weiss Y; Balwani M; Chen B; Yasuda M; Nazarenko I; Desnick RJ
    Mol Genet Metab; 2019 Nov; 128(3):358-362. PubMed ID: 30454868
    [TBL] [Abstract][Full Text] [Related]  

  • 9. How I treat erythropoietic protoporphyria and X-linked protoporphyria.
    Leaf RK; Dickey AK
    Blood; 2023 Jun; 141(24):2921-2931. PubMed ID: 36898083
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. Illuminating Dersimelagon: A Novel Agent in the Treatment of Erythropoietic Protoporphyria and X-Linked Protoporphyria.
    Madigan KE; Rudnick SR; Agnew MA; Urooj N; Bonkovsky HL
    Pharmaceuticals (Basel); 2023 Dec; 17(1):. PubMed ID: 38256864
    [TBL] [Abstract][Full Text] [Related]  

  • 12. [Inheritance in erythropoietic protoporphyria].
    Schmitt C; Ducamp S; Gouya L; Deybach JC; Puy H
    Pathol Biol (Paris); 2010 Oct; 58(5):372-80. PubMed ID: 20850938
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Heme Biosynthetic Gene Expression Analysis With dPCR in Erythropoietic Protoporphyria Patients.
    Granata F; Brancaleoni V; Barman-Aksözen J; Scopetti M; De Luca G; Fustinoni S; Motta I; Di Pierro E; Graziadei G
    Front Physiol; 2022; 13():886194. PubMed ID: 35923227
    [No Abstract]   [Full Text] [Related]  

  • 14. Microcytosis in Erythropoietic Protoporphyria.
    Graziadei G; Duca L; Granata F; De Luca G; De Giovanni A; Brancaleoni V; Nava I; Di Pierro E
    Front Physiol; 2022; 13():841050. PubMed ID: 35309058
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Disturbed iron metabolism in erythropoietic protoporphyria and association of GDF15 and gender with disease severity.
    Barman-Aksoezen J; Girelli D; Aurizi C; Schneider-Yin X; Campostrini N; Barbieri L; Minder EI; Biolcati G
    J Inherit Metab Dis; 2017 May; 40(3):433-441. PubMed ID: 28185024
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Iron, Heme Synthesis and Erythropoietic Porphyrias: A Complex Interplay.
    Poli A; Schmitt C; Moulouel B; Mirmiran A; Puy H; Lefèbvre T; Gouya L
    Metabolites; 2021 Nov; 11(12):. PubMed ID: 34940556
    [TBL] [Abstract][Full Text] [Related]  

  • 17. The molecular genetics of erythropoietic protoporphyria.
    Elder GH; Gouya L; Whatley SD; Puy H; Badminton MN; Deybach JC
    Cell Mol Biol (Noisy-le-grand); 2009 Jul; 55(2):118-26. PubMed ID: 19656460
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Cimetidine for erythropoietic protoporphyria.
    Heerfordt IM; Lerche CM; Wulf HC
    Photodiagnosis Photodyn Ther; 2022 Jun; 38():102793. PubMed ID: 35245673
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Systematic analysis of molecular defects in the ferrochelatase gene from patients with erythropoietic protoporphyria.
    Rüfenacht UB; Gouya L; Schneider-Yin X; Puy H; Schäfer BW; Aquaron R; Nordmann Y; Minder EI; Deybach JC
    Am J Hum Genet; 1998 Jun; 62(6):1341-52. PubMed ID: 9585598
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Repurposing of glycine transport inhibitors for the treatment of erythropoietic protoporphyria.
    Halloy F; Iyer PS; Ghidini A; Lysenko V; Barman-Aksözen J; Grubenmann CP; Jucker J; Wildner-Verhey van Wijk N; Ruepp MD; Minder EI; Minder AE; Schneider-Yin X; Theocharides APA; Schümperli D; Hall J
    Cell Chem Biol; 2021 Aug; 28(8):1221-1234.e6. PubMed ID: 33756123
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 16.