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Items: 1 to 20 of 59

1.

Hepatoerythropoietic Porphyria Caused by a Novel Homoallelic Mutation in Uroporphyrinogen Decarboxylase Gene in Egyptian Patients.

Farrag MS, Mikula I, Richard E, Saudek V, De Verneuil H, Martásek P.

Folia Biol (Praha). 2015;61(6):219-26.

2.

Computational identification of pathogenic associated nsSNPs and its structural impact in UROD gene: a molecular dynamics approach.

Doss CG, Magesh R.

Cell Biochem Biophys. 2014 Nov;70(2):735-46. doi: 10.1007/s12013-014-9975-7.

PMID:
24777812
3.

Familial porphyria cutanea tarda in Spain: characterization of eight novel mutations in the UROD gene and haplotype analysis of the common p.G281E mutation.

Gómez-Abecia S, Morán-Jiménez MJ, Ruiz-Casares E, Henriques-Gil N, García-Pastor I, Garrido-Astray MC, Enríquez de Salamanca R, Méndez M.

Gene. 2013 Jun 10;522(1):89-95. doi: 10.1016/j.gene.2013.03.074. Epub 2013 Mar 29.

PMID:
23545314
4.

Uroporphyrinogen decarboxylase as a potential target for specific components of traditional Chinese medicine: a virtual screening and molecular dynamics study.

Tsou YA, Chen KC, Lin HC, Chang SS, Chen CY.

PLoS One. 2012;7(11):e50087. doi: 10.1371/journal.pone.0050087. Epub 2012 Nov 29.

5.

Molecular analysis of the UROD gene in 17 Argentinean patients with familial porphyria cutanea tarda: characterization of four novel mutations.

Méndez M, Rossetti MV, Gómez-Abecia S, Morán-Jiménez MJ, Parera V, Batlle A, Enríquez de Salamanca R.

Mol Genet Metab. 2012 Apr;105(4):629-33. doi: 10.1016/j.ymgme.2012.02.002. Epub 2012 Feb 8.

PMID:
22382040
6.

Hepatoerythropoietic porphyria and familial porphyria cutanea tarda in Spanish patients: G281E mutation in the uroporphyrinogen decarboxylase gene.

Darwich E, To-Figueras J, Badenas C, Herrero C.

Arch Dermatol. 2010 Nov;146(11):1313-4. doi: 10.1001/archdermatol.2010.314. No abstract available.

PMID:
21079081
7.

A tale of two acids: when arginine is a more appropriate acid than H3O+.

Silva PJ, Schulz C, Jahn D, Jahn M, Ramos MJ.

J Phys Chem B. 2010 Jul 15;114(27):8994-9001. doi: 10.1021/jp100961s.

PMID:
20553007
8.

Hepatoerythropoietic porphyria misdiagnosed as child abuse: cutaneous, arthritic, and hematologic manifestations in siblings with a novel UROD mutation.

Cantatore-Francis JL, Cohen-Pfeffer J, Balwani M, Kahn P, Lazarus HM, Desnick RJ, Schaffer JV.

Arch Dermatol. 2010 May;146(5):529-33. doi: 10.1001/archdermatol.2010.89.

9.

Structural and kinetic characterization of mutant human uroporphyrinogen decarboxylases.

Warby CA, Phillips JD, Bergonia HA, Whitby FG, Hill CP, Kushner JP.

Cell Mol Biol (Noisy-le-grand). 2009 Jul 1;55(2):40-5.

10.

Identification and characterization of novel uroporphyrinogen decarboxylase gene mutations in a large series of porphyria cutanea tarda patients and relatives.

Badenas C, To-Figueras J, Phillips JD, Warby CA, Muñoz C, Herrero C.

Clin Genet. 2009 Apr;75(4):346-53. doi: 10.1111/j.1399-0004.2009.01153.x.

11.

Molecular heterogeneity of familial porphyria cutanea tarda in Spain: characterization of 10 novel mutations in the UROD gene.

Méndez M, Poblete-Gutiérrez P, García-Bravo M, Wiederholt T, Morán-Jiménez MJ, Merk HF, Garrido-Astray MC, Frank J, Fontanellas A, Enríquez de Salamanca R.

Br J Dermatol. 2007 Sep;157(3):501-7. Epub 2007 Jul 11.

PMID:
17627795
12.

Hepatoerythropoietic porphyria: a missense mutation in the UROD gene is associated with mild disease and an unusual porphyrin excretion pattern.

Armstrong DK, Sharpe PC, Chambers CR, Whatley SD, Roberts AG, Elder GH.

Br J Dermatol. 2004 Oct;151(4):920-3.

PMID:
15491440
13.

The molecular basis of porphyria cutanea tarda in Chile: identification and functional characterization of mutations in the uroporphyrinogen decarboxylase gene.

Poblete-Gutiérrez P, Mendez M, Wiederholt T, Merk HF, Fontanellas A, Wolff C, Frank J.

Exp Dermatol. 2004 Jun;13(6):372-9.

PMID:
15186324
14.

Human gene mutations. Gene symbol: UROD. Disease: Porphyria, cutanea tarda.

Martinez di Montemuros F, Tavazzi D, Patti E, Cappellini MD.

Hum Genet. 2004 Jan;114(2):221. No abstract available.

PMID:
15046048
15.

Description of a new mutation in hepatoerythropoietic porphyria and prenatal exclusion of a homozygous fetus.

Ged C, Ozalla D, Herrero C, Lecha M, Mendez M, de Verneuil H, Mascaro JM.

Arch Dermatol. 2002 Jul;138(7):957-60.

PMID:
12071824
16.

Functional consequences of naturally occurring mutations in human uroporphyrinogen decarboxylase.

Phillips JD, Parker TL, Schubert HL, Whitby FG, Hill CP, Kushner JP.

Blood. 2001 Dec 1;98(12):3179-85.

17.

Seven novel point mutations in the uroporphyrinogen decarboxylase (UROD) gene in patients with familial porphyria cutanea tarda (f-PCT).

Cappellini MD, Martinez di Montemuros F, Tavazzi D, Fargion S, Pizzuti A, Comino A, Cainelli T, Fiorelli G.

Hum Mutat. 2001 Apr;17(4):350.

PMID:
11295834
18.

Screening for mutations in the uroporphyrinogen decarboxylase gene using denaturing gradient gel electrophoresis. Identification and characterization of six novel mutations associated with familial PCT.

Christiansen L, Ged C, Hombrados I, Brons-Poulsen J, Fontanellas A, de Verneuil H, Hørder M, Petersen NE.

Hum Mutat. 1999;14(3):222-32.

PMID:
10477430
19.
20.

Familial porphyria cutanea tarda: characterization of seven novel uroporphyrinogen decarboxylase mutations and frequency of common hemochromatosis alleles.

Mendez M, Sorkin L, Rossetti MV, Astrin KH, del C Batlle AM, Parera VE, Aizencang G, Desnick RJ.

Am J Hum Genet. 1998 Nov;63(5):1363-75.

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