| These results expand the molecular heterogeneity of Porphyria Cutanea Tarda and Hepatoerythropoietic Porphyria by adding a total of 19 novel UROD mutations. | Porphyria cutanea tarda and hepatoerythropoietic porphyria: Identification of 19 novel uroporphyrinogen III decarboxylase mutations.
Weiss Y, Chen B, Yasuda M, Nazarenko I, Anderson KE, Desnick RJ., Free PMC Article | 07/4/2020 |
| a new mutation in the UROD gene in Egyptian patients with Hepatoerythropoietic porphyria, is reported. | 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. | 10/22/2016 |
| a new insight in the conformational changes occurred in the mutant structures of UROD protein. | Computational identification of pathogenic associated nsSNPs and its structural impact in UROD gene: a molecular dynamics approach.
Doss CG, Magesh R. | 07/4/2015 |
| Data suggest that the traditional Chinese medicine (TCM) candidate potential three-in-one inhibitors for three drug target proteins epidermal growth factor receptor (EGFR), Her2, and uroporphyrinogen decarboxylase (UROD) against head and neck cancer. | A possible strategy against head and neck cancer: in silico investigation of three-in-one inhibitors.
Tsou YA, Chen KC, Chang SS, Wen YR, Chen CY. | 06/14/2014 |
| Expression of the D306Y mutation results in an insoluble recombinant protein. G318R and K297N have little effect on the structure or activity of recombinant URO-D, but the proteins display reduced stability in vitro. | Structural and kinetic characterization of mutant human uroporphyrinogen decarboxylases.
Warby CA, Phillips JD, Bergonia HA, Whitby FG, Hill CP, Kushner JP., Free PMC Article | 12/28/2013 |
| Among seventeen F-PCT patients, sixteen UROD mutations were identified. | 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. | 09/28/2013 |
| analysis of uroporphyrinogen decarboxylase as a potential target for specific components of traditional Chinese medicine | 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., Free PMC Article | 06/29/2013 |
| Mutations in UROD gene is associated with familial porphyria cutanea tarda. | 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. | 07/21/2012 |
| Hepatoerythropoietic porphyria and familial porphyria cutanea tarda G281E mutation in the uroporphyrinogen decarboxylase gene | 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. | 01/1/2011 |
| function of Arg37 in uroporphyrinogen III decarboxylase | A tale of two acids: when arginine is a more appropriate acid than H3O+.
Silva PJ, Schulz C, Jahn D, Jahn M, Ramos MJ. | 10/23/2010 |
| description of 3 siblings with hepatoerythropoietic porphyria; sequencing of the UROD gene revealed compound heterozygosity for a novel missense mutation, V166A, and a complex deletion/insertion, 645del1053ins10 | 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., Free PMC Article | 08/9/2010 |
| role of UROD mutations as a strong risk factor for porphyria cutanea tarda even in areas where environmental factors (hepatitis C virus) have been shown to be highly associated with the disease | 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, Badenas C, To-Figueras J, Phillips JD, Warby CA, Muñoz C, Herrero C., Free PMC Articles: PMC3804340, PMC3804340 | 01/21/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (2) articlesIdentification 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, Badenas C, To-Figueras J, Phillips JD, Warby CA, Muñoz C, Herrero C. 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, 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. | 03/13/2008 |
| There is a high degree of molecular heterogeneity of familial porphyria cutanea tarda in Spain and molecular genetic analysis is useful in distinguish between F-PCT and sporadic PCT. | 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, 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. | 01/21/2010 |
| Sequence deletions in uroporphyrinogen decarboxylase is associated with Porphyria Cutanea Tarda. | Human gene mutations. Gene symbol: UROD. Disease: Porphyria, cutanea tarda.
Martinez di Montemuros F, Tavazzi D, Patti E, Cappellini MD. | 01/21/2010 |
| Sequencing of the hydroxymethylbilane synthase and uroporphyrinogen decarboxylase genes confirmed the relatively rare diagnosis of dual porphyria, and revealed a novel uroporphyrinogen decarboxylase mutation | Dual porphyria with mutations in both the UROD and HMBS genes.
Harraway JR, Florkowski CM, Sies C, George PM. | 01/21/2010 |
| we identified eight mutations in 18 previously unclassified porphyria cutanea tarda families | 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. | 01/21/2010 |