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Items: 1 to 20 of 53

1.

The assessment of noncoding variant of PPOX gene in variegate porphyria reveals post-transcriptional role of the 5' untranslated exon 1.

Fiorentino V, Brancaleoni V, Granata F, Graziadei G, Di Pierro E.

Blood Cells Mol Dis. 2016 Oct;61:48-53. doi: 10.1016/j.bcmd.2016.08.002. Epub 2016 Aug 17.

PMID:
27667166
2.

Antioxidants restore protoporphyrinogen oxidase in variegate porphyria patients.

Ferrer MD, Tauler P, Sureda A, Palacín C, Tur JA, Pons A.

Eur J Clin Invest. 2013 Jul;43(7):668-78. doi: 10.1111/eci.12091. Epub 2013 Apr 20.

PMID:
23601071
3.

Quantitative structural insight into human variegate porphyria disease.

Wang B, Wen X, Qin X, Wang Z, Tan Y, Shen Y, Xi Z.

J Biol Chem. 2013 Apr 26;288(17):11731-40. doi: 10.1074/jbc.M113.459768. Epub 2013 Mar 6.

4.
5.

Extended haplotype studies in South African and Dutch variegate porphyria families carrying the recurrent p.R59W mutation confirm a common ancestry.

van Tuyll van Serooskerken AM, Drögemöller BI, Te Velde K, Bladergroen RS, Steijlen PM, Poblete-Gutiérrez P, van Geel M, van Heerden CJ, Warnich L, Frank J.

Br J Dermatol. 2012 Feb;166(2):261-5. doi: 10.1111/j.1365-2133.2011.10606.x.

PMID:
21910705
6.

Structural insight into human variegate porphyria disease.

Qin X, Tan Y, Wang L, Wang Z, Wang B, Wen X, Yang G, Xi Z, Shen Y.

FASEB J. 2011 Feb;25(2):653-64. doi: 10.1096/fj.10-170811. Epub 2010 Nov 3.

PMID:
21048046
7.

Identification of a recurrent mutation in the protoporphyrinogen oxidase gene in Swiss patients with variegate porphyria: clinical and genetic implications.

Van Tuyll Van Serooskerke AM, Schneider-Yin X, Schimmel RJ, Bladergroen RS, Poblete-Gutiérrez P, Barman J, van Geel M, Frank J, Minder EI.

Cell Mol Biol (Noisy-le-grand). 2009 Jul 1;55(2):96-101.

PMID:
19656457
8.

Clinical, biochemical and genetic characteristics of Variegate Porphyria in Italy.

Di Pierro E, Ventura P, Brancaleoni V, Moriondo V, Marchini S, Tavazzi D, Nascimbeni F, Ferrari MC, Rocchi E, Cappellini MD.

Cell Mol Biol (Noisy-le-grand). 2009 Jul 1;55(2):79-88.

PMID:
19656455
9.

Clinic and genetic evaluation of variegate porphyria (VP) in a large family from the Balearic Islands.

Bonnin A, Picornell A, Orfila J, Castro JA, Ramon MM.

J Inherit Metab Dis. 2009 Dec;32 Suppl 1. doi: 10.1007/s10545-009-1059-2. Epub 2009 Feb 20.

PMID:
19229653
10.

Swiss patients with variegate porphyria have unique mutations.

Schneider-Yin X, Minder EI.

Swiss Med Wkly. 2006 Aug 5;136(31-32):515-9.

PMID:
16947091
11.

Mitochondrial targeting of human protoporphyrinogen oxidase.

Davids LM, Corrigall AV, Meissner PN.

Cell Biol Int. 2006 May;30(5):416-26. Epub 2006 Mar 6.

PMID:
16621625
12.
13.

Kinetic and physical characterisation of recombinant wild-type and mutant human protoporphyrinogen oxidases.

Maneli MH, Corrigall AV, Klump HH, Davids LM, Kirsch RE, Meissner PN.

Biochim Biophys Acta. 2003 Aug 21;1650(1-2):10-21.

PMID:
12922165
14.

Clinical and biochemical characteristics and genotype-phenotype correlation in Finnish variegate porphyria patients.

von und zu Fraunberg M, Timonen K, Mustajoki P, Kauppinen R.

Eur J Hum Genet. 2002 Oct;10(10):649-57.

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Identification of the first variegate porphyria mutation in an indigenous black South African and further evidence for heterogeneity in variegate porphyria.

Corrigall AV, Hift RJ, Davids LM, Hancock V, Meissner D, Kirsch RE, Meissner PN.

Mol Genet Metab. 2001 May;73(1):91-6.

PMID:
11350188
17.

Homozygous variegate porphyria: a compound heterozygote with novel mutations in the protoporphyrinogen oxidase gene.

Palmer RA, Elder GH, Barrett DF, Keohane SG.

Br J Dermatol. 2001 Apr;144(4):866-9.

PMID:
11298551
18.

Homozygous variegate porphyria: 20 y follow-up and characterization of molecular defect.

Kauppinen R, Timonen K, von und zu Fraunberg M, Laitinen E, Ahola H, Tenhunen R, Taketani S, Mustajoki P.

J Invest Dermatol. 2001 Apr;116(4):610-3.

19.

Homozygous variegate porphyria in South Africa: genotypic analysis in two cases.

Corrigall AV, Hift RJ, Davids LM, Hancock V, Meissner D, Kirsch RE, Meissner PN.

Mol Genet Metab. 2000 Apr;69(4):323-30.

PMID:
10870850
20.

Mutations in the translation initiation codon of the protoporphyrinogen oxidase gene underlie variegate porphyria.

Frank J, McGrath JA, Poh-Fitzpatrick MB, Hawk JL, Christiano AM.

Clin Exp Dermatol. 1999 Jul;24(4):296-301.

PMID:
10457135

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