156 related articles for article (PubMed ID: 21103937)
1. Harderoporphyria due to homozygosity for coproporphyrinogen oxidase missense mutation H327R.
Hasanoglu A; Balwani M; Kasapkara CS; Ezgü FS; Okur I; Tümer L; Cakmak A; Nazarenko I; Yu C; Clavero S; Bishop DF; Desnick RJ
J Inherit Metab Dis; 2011 Feb; 34(1):225-31. PubMed ID: 21103937
[TBL] [Abstract][Full Text] [Related]
2. The enzyme engineering of mutant homodimer and heterodimer of coproporphyinogen oxidase contributes to new insight into hereditary coproporphyria and harderoporphyria.
Kim DH; Hino R; Adachi Y; Kobori A; Taketani S
J Biochem; 2013 Dec; 154(6):551-9. PubMed ID: 24078084
[TBL] [Abstract][Full Text] [Related]
3. Mutations in human CPO gene predict clinical expression of either hepatic hereditary coproporphyria or erythropoietic harderoporphyria.
Schmitt C; Gouya L; Malonova E; Lamoril J; Camadro JM; Flamme M; Rose C; Lyoumi S; Da Silva V; Boileau C; Grandchamp B; Beaumont C; Deybach JC; Puy H
Hum Mol Genet; 2005 Oct; 14(20):3089-98. PubMed ID: 16159891
[TBL] [Abstract][Full Text] [Related]
4. Characterization of mutations in the CPO gene in British patients demonstrates absence of genotype-phenotype correlation and identifies relationship between hereditary coproporphyria and harderoporphyria.
Lamoril J; Puy H; Whatley SD; Martin C; Woolf JR; Da Silva V; Deybach JC; Elder GH
Am J Hum Genet; 2001 May; 68(5):1130-8. PubMed ID: 11309681
[TBL] [Abstract][Full Text] [Related]
5. Harderoporphyria: a variant hereditary coproporphyria.
Nordmann Y; Grandchamp B; de Verneuil H; Phung L; Cartigny B; Fontaine G
J Clin Invest; 1983 Sep; 72(3):1139-49. PubMed ID: 6886003
[TBL] [Abstract][Full Text] [Related]
6. Neonatal hemolytic anemia due to inherited harderoporphyria: clinical characteristics and molecular basis.
Lamoril J; Puy H; Gouya L; Rosipal R; Da Silva V; Grandchamp B; Foint T; Bader-Meunier B; Dommergues JP; Deybach JC; Nordmann Y
Blood; 1998 Feb; 91(4):1453-7. PubMed ID: 9454777
[TBL] [Abstract][Full Text] [Related]
7. Neonatal-Onset Hereditary Coproporphyria: A New Variant of Hereditary Coproporphyria.
Hasegawa K; Tanaka H; Yamashita M; Higuchi Y; Miyai T; Yoshimoto J; Okada A; Suzuki N; Iwatsuki K; Tsukahara H
JIMD Rep; 2017; 37():99-106. PubMed ID: 28349448
[TBL] [Abstract][Full Text] [Related]
8. Analysis of the mechanism underlying a mild phenotype of hereditary coproporphyria due to a homozygous missense mutation in the transcription initiation codon of the coproporphyrinogen III oxidase gene.
Fukui T; Akasaka E; Rokunohe D; Matsuzaki Y; Sawamura D; Kabashima K; Nakano H
J Dermatol Sci; 2020 Nov; 100(2):156-159. PubMed ID: 33008663
[No Abstract] [Full Text] [Related]
9. Digenic inheritance of mutations in the coproporphyrinogen oxidase and protoporphyrinogen oxidase genes in a unique type of porphyria.
van Tuyll van Serooskerken AM; de Rooij FW; Edixhoven A; Bladergroen RS; Baron JM; Joussen S; Merk HF; Steijlen PM; Poblete-Gutiérrez P; te Velde K; Wilson JH; Koole RH; van Geel M; Frank J
J Invest Dermatol; 2011 Nov; 131(11):2249-54. PubMed ID: 21734717
[TBL] [Abstract][Full Text] [Related]
10. Acute hepatic porphyrias: Identification of 46 hydroxymethylbilane synthase, 11 coproporphyrinogen oxidase, and 20 protoporphyrinogen oxidase novel mutations.
Loskove Y; Yasuda M; Chen B; Nazarenko I; Cody N; Desnick RJ
Mol Genet Metab; 2019 Nov; 128(3):352-357. PubMed ID: 30385147
[TBL] [Abstract][Full Text] [Related]
11. Structural basis of hereditary coproporphyria.
Lee DS; Flachsová E; Bodnárová M; Demeler B; Martásek P; Raman CS
Proc Natl Acad Sci U S A; 2005 Oct; 102(40):14232-7. PubMed ID: 16176984
[TBL] [Abstract][Full Text] [Related]
12. A molecular defect in coproporphyrinogen oxidase gene causing harderoporphyria, a variant form of hereditary coproporphyria.
Lamoril J; Martasek P; Deybach JC; Da Silva V; Grandchamp B; Nordmann Y
Hum Mol Genet; 1995 Feb; 4(2):275-8. PubMed ID: 7757079
[TBL] [Abstract][Full Text] [Related]
13. Hereditary cataract of the Nakano mouse: Involvement of a hypomorphic mutation in the coproporphyrinogen oxidase gene.
Mori M; Gotoh S; Taketani S; Hiai H; Higuchi K
Exp Eye Res; 2013 Jul; 112():45-50. PubMed ID: 23631845
[TBL] [Abstract][Full Text] [Related]
14. Cloning, expression, and biochemical properties of CPOX4, a genetic variant of coproporphyrinogen oxidase that affects susceptibility to mercury toxicity in humans.
Li T; Woods JS
Toxicol Sci; 2009 Jun; 109(2):228-36. PubMed ID: 19339664
[TBL] [Abstract][Full Text] [Related]
15. Identification of an AluY-mediated deletion of exon 5 in the CPOX gene by MLPA analysis in patients with hereditary coproporphyria.
Barbaro M; Kotajärvi M; Harper P; Floderus Y
Clin Genet; 2012 Mar; 81(3):249-56. PubMed ID: 21231929
[TBL] [Abstract][Full Text] [Related]
16. Novel human pathological mutations. Gene symbol: CPOX. Disease: coproporphyria.
DiPierro E; Brancaleoni V; Cappellini MD
Hum Genet; 2010 Apr; 127(4):489-90. PubMed ID: 21491623
[No Abstract] [Full Text] [Related]
17. The oxygen-independent coproporphyrinogen III oxidase HemN utilizes harderoporphyrinogen as a reaction intermediate during conversion of coproporphyrinogen III to protoporphyrinogen IX.
Rand K; Noll C; Schiebel HM; Kemken D; Dülcks T; Kalesse M; Heinz DW; Layer G
Biol Chem; 2010 Jan; 391(1):55-63. PubMed ID: 19919179
[TBL] [Abstract][Full Text] [Related]
18. Co-existence of hereditary coproporphyria and porphyria cutanea tarda: The importance of genetic testing.
Rudd A; Grant J; Varigos G; Morgan V; Winship I
Australas J Dermatol; 2013 May; 54(2):e50-2. PubMed ID: 23582006
[TBL] [Abstract][Full Text] [Related]
19. Molecular analysis of 19 Spanish patients with mixed porphyrias.
Borrero Corte MJ; Jara Rubio F; Morán Jiménez MJ; Díaz Díaz S; Castelbón Fernandez FJ; García Pastor I; Enríquez de Salamanca R; Méndez M
Eur J Med Genet; 2019 Dec; 62(12):103589. PubMed ID: 30476629
[TBL] [Abstract][Full Text] [Related]
20. Four novel mutations of the coproporphyrinogen III oxidase gene.
Aurizi C; Lupia Palmieri G; Barbieri L; Macrì A; Sorge F; Usai G; Biolcati G
Cell Mol Biol (Noisy-le-grand); 2009 Feb; 55(1):15-8. PubMed ID: 19267996
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]