205 related articles for article (PubMed ID: 30391163)
1. Strong correlation of ferrochelatase enzymatic activity with Mitoferrin-1 mRNA in lymphoblasts of patients with protoporphyria.
Phillips J; Farrell C; Wang Y; Singal AK; Anderson K; Balwani M; Bissell M; Bonkovsky H; Seay T; Paw B; Desnick R; Bloomer J
Mol Genet Metab; 2019 Nov; 128(3):391-395. PubMed ID: 30391163
[TBL] [Abstract][Full Text] [Related]
2. Abnormal mitoferrin-1 expression in patients with erythropoietic protoporphyria.
Wang Y; Langer NB; Shaw GC; Yang G; Li L; Kaplan J; Paw BH; Bloomer JR
Exp Hematol; 2011 Jul; 39(7):784-94. PubMed ID: 21627978
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. 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]
5. 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]
6. Erythropoietic protoporphyria.
Lecha M; Puy H; Deybach JC
Orphanet J Rare Dis; 2009 Sep; 4():19. PubMed ID: 19744342
[TBL] [Abstract][Full Text] [Related]
7. Biochemical abnormality in erythropoietic protoporphyria: cause and consequences.
Bloomer JR; Wang Y; Singhal A; Risheg H
J Pediatr Gastroenterol Nutr; 2006 Jul; 43 Suppl 1():S36-40. PubMed ID: 16819399
[TBL] [Abstract][Full Text] [Related]
8. Molecular epidemiology of erythropoietic protoporphyria in the U.K.
Whatley SD; Mason NG; Holme SA; Anstey AV; Elder GH; Badminton MN
Br J Dermatol; 2010 Mar; 162(3):642-6. PubMed ID: 20105171
[TBL] [Abstract][Full Text] [Related]
9. Erythroid-Progenitor-Targeted Gene Therapy Using Bifunctional TFR1 Ligand-Peptides in Human Erythropoietic Protoporphyria.
Mirmiran A; Schmitt C; Lefebvre T; Manceau H; Daher R; Oustric V; Poli A; Lacapère JJ; Moulouel B; Puy H; Karim Z; Peoc'h K; Lenglet H; Simonin S; Deybach JC; Nicolas G; Gouya L
Am J Hum Genet; 2019 Feb; 104(2):341-347. PubMed ID: 30712775
[TBL] [Abstract][Full Text] [Related]
10. Modeling the ferrochelatase c.315-48C modifier mutation for erythropoietic protoporphyria (EPP) in mice.
Barman-Aksözen J; C Wiek P; Bansode VB; Koentgen F; Trüb J; Pelczar P; Cinelli P; Schneider-Yin X; Schümperli D; Minder EI
Dis Model Mech; 2017 Mar; 10(3):225-233. PubMed ID: 28093505
[TBL] [Abstract][Full Text] [Related]
11. Erythropoietic protoporphyria a clinical and molecular study from Lebanon: Ferrochelatase a potential tumor suppressor gene in colon cancer.
Kadara H; Nemer G; Safi R; Rebeiz N; Daou L; Delbani D; Btadini W; Abbas O; Tofaili M; Bitar F; Kibbi AG; Shimomura Y; Kurban M
Clin Genet; 2017 Nov; 92(5):495-502. PubMed ID: 28075030
[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. 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]
14. 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]
15. 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]
16. X-linked dominant protoporphyria: The first reported Japanese case.
Ninomiya Y; Kokunai Y; Tanizaki H; Akasaka E; Nakano H; Moriwaki S
J Dermatol; 2016 Apr; 43(4):414-8. PubMed ID: 26387792
[TBL] [Abstract][Full Text] [Related]
17. A Novel Mutation in the FECH Gene in a Czech Family with Erythropoietic Protoporphyria and a Population Study of IVS3-48C Variant Contributing to the Disease.
Farrag MS; Kučerová J; Šlachtová L; Šeda O; Šperl J; Martásek P
Folia Biol (Praha); 2015; 61(6):227-32. PubMed ID: 26789144
[TBL] [Abstract][Full Text] [Related]
18. The ubiquitous mitochondrial protein unfoldase CLPX regulates erythroid heme synthesis by control of iron utilization and heme synthesis enzyme activation and turnover.
Rondelli CM; Perfetto M; Danoff A; Bergonia H; Gillis S; O'Neill L; Jackson L; Nicolas G; Puy H; West R; Phillips JD; Yien YY
J Biol Chem; 2021 Aug; 297(2):100972. PubMed ID: 34280433
[TBL] [Abstract][Full Text] [Related]
19. Mutation in human
Yien YY; Ducamp S; van der Vorm LN; Kardon JR; Manceau H; Kannengiesser C; Bergonia HA; Kafina MD; Karim Z; Gouya L; Baker TA; Puy H; Phillips JD; Nicolas G; Paw BH
Proc Natl Acad Sci U S A; 2017 Sep; 114(38):E8045-E8052. PubMed ID: 28874591
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
