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Items: 1 to 20 of 134

1.

A molecular study of congenital erythropoietic porphyria in cattle.

Agerholm JS, Thulstrup PW, Bjerrum MJ, Bendixen C, Jørgensen CB, Fredholm M.

Anim Genet. 2012 Apr;43(2):210-5. doi: 10.1111/j.1365-2052.2011.02228.x. Epub 2011 Jul 21.

PMID:
22404357
2.

ALAS2 acts as a modifier gene in patients with congenital erythropoietic porphyria.

To-Figueras J, Ducamp S, Clayton J, Badenas C, Delaby C, Ged C, Lyoumi S, Gouya L, de Verneuil H, Beaumont C, Ferreira GC, Deybach JC, Herrero C, Puy H.

Blood. 2011 Aug 11;118(6):1443-51. doi: 10.1182/blood-2011-03-342873. Epub 2011 Jun 7.

3.

Novel point mutation in the uroporphyrinogen III synthase gene causes congenital erythropoietic porphyria of a Japanese family.

Takamura N, Hombrados I, Tanigawa K, Namba H, Nagayama Y, de Verneuil H, Yamashita S.

Am J Med Genet. 1997 Jun 13;70(3):299-302.

PMID:
9188670
4.

A knock-in mouse model of congenital erythropoietic porphyria.

Ged C, Mendez M, Robert E, Lalanne M, Lamrissi-Garcia I, Costet P, Daniel JY, Dubus P, Mazurier F, Moreau-Gaudry F, de Verneuil H.

Genomics. 2006 Jan;87(1):84-92. Epub 2005 Nov 28.

5.

Mutational analysis of uroporphyrinogen III cosynthase gene in Iranian families with congenital erythropoietic porphyria.

Moghbeli M, Maleknejad M, Arabi A, Abbaszadegan MR.

Mol Biol Rep. 2012 Jun;39(6):6731-5. doi: 10.1007/s11033-012-1497-z. Epub 2012 Feb 18.

PMID:
22350154
6.
7.

Congenital erythropoietic porphyria: identification and expression of eight novel mutations in the uroporphyrinogen III synthase gene.

Shady AA, Colby BR, Cunha LF, Astrin KH, Bishop DF, Desnick RJ.

Br J Haematol. 2002 Jun;117(4):980-7.

PMID:
12060141
8.

C73R is a hotspot mutation in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria.

Frank J, Wang X, Lam HM, Aita VM, Jugert FK, Goerz G, Merk HF, Poh-Fitzpatrick MB, Christiano AM.

Ann Hum Genet. 1998 May;62(Pt 3):225-30.

9.

A systematic analysis of the mutations of the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria.

Fontanellas A, Bensidhoum M, Enriquez de Salamanca R, Moruno Tirado A, de Verneuil H, Ged C.

Eur J Hum Genet. 1996;4(5):274-82.

PMID:
8946173
10.

Therapeutic potential of proteasome inhibitors in congenital erythropoietic porphyria.

Blouin JM, Duchartre Y, Costet P, Lalanne M, Ged C, Lain A, Millet O, de Verneuil H, Richard E.

Proc Natl Acad Sci U S A. 2013 Nov 5;110(45):18238-43. doi: 10.1073/pnas.1314177110. Epub 2013 Oct 21.

11.

Feline congenital erythropoietic porphyria: two homozygous UROS missense mutations cause the enzyme deficiency and porphyrin accumulation.

Clavero S, Bishop DF, Giger U, Haskins ME, Desnick RJ.

Mol Med. 2010 Sep-Oct;16(9-10):381-8. doi: 10.2119/molmed.2010.00038. Epub 2010 May 12.

12.

Modeling of congenital erythropoietic porphyria by RNA interference: a new tool for preclinical gene therapy evaluation.

Robert-Richard E, Lalanne M, Lamrissi-Garcia I, Guyonnet-Duperat V, Richard E, Pitard V, Mazurier F, Moreau-Gaudry F, Ged C, de Verneuil H.

J Gene Med. 2010 Aug;12(8):637-46. doi: 10.1002/jgm.1478.

PMID:
20586119
13.

Congenital erythropoietic porphyria: report of a novel mutation with absence of clinical manifestations in a homozygous mutant sibling.

Ged C, Mégarbané H, Chouery E, Lalanne M, Mégarbané A, de Verneuil H.

J Invest Dermatol. 2004 Sep;123(3):589-91.

14.

Two brothers with mild congenital erythropoietic porphyria due to a novel genotype.

Berry AA, Desnick RJ, Astrin KH, Shabbeer J, Lucky AW, Lim HW.

Arch Dermatol. 2005 Dec;141(12):1575-9.

PMID:
16365260
15.

Congenital erythropoietic porphyria: a single-observer clinical study of 29 cases.

Katugampola RP, Badminton MN, Finlay AY, Whatley S, Woolf J, Mason N, Deybach JC, Puy H, Ged C, de Verneuil H, Hanneken S, Minder E, Schneider-Yin X, Anstey AV.

Br J Dermatol. 2012 Oct;167(4):901-13. doi: 10.1111/j.1365-2133.2012.11160.x. Epub 2012 Sep 18.

PMID:
22816431
16.

Uroporphyrinogen III synthase mutations related to congenital erythropoietic porphyria identify a key helix for protein stability.

Fortian A, Castaño D, Ortega G, Laín A, Pons M, Millet O.

Biochemistry. 2009 Jan 20;48(2):454-61. doi: 10.1021/bi801731q.

PMID:
19099412
17.
18.

Identification of a novel UROS mutation in a Chinese patient affected by congenital erythropoietic porphyria.

Guo S, Wang L, Li X, Nie G, Li M, Han B.

Blood Cells Mol Dis. 2014 Jan;52(1):57-8. doi: 10.1016/j.bcmd.2013.07.012. Epub 2013 Aug 15. No abstract available.

PMID:
23953398
19.

Molecular genetics of congenital erythropoietic porphyria.

Desnick RJ, Glass IA, Xu W, Solis C, Astrin KH.

Semin Liver Dis. 1998;18(1):77-84. Review.

PMID:
9516681
20.

Effective gene therapy of mice with congenital erythropoietic porphyria is facilitated by a survival advantage of corrected erythroid cells.

Robert-Richard E, Moreau-Gaudry F, Lalanne M, Lamrissi-Garcia I, Cario-André M, Guyonnet-Dupérat V, Taine L, Ged C, de Verneuil H.

Am J Hum Genet. 2008 Jan;82(1):113-24. doi: 10.1016/j.ajhg.2007.09.007.

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