Associated Papers
A domestic cat whole exome sequencing resource for trait discovery.
Rodney AR et al.
Scientific Reports, 2021
Recent advances on porphyria genetics: Inheritance, penetrance & molecular heterogeneity, including new modifying/causative genes.
Yasuda M et al.
Molecular Genetics and Metabolism, 2019
Congenital erythropoietic porphyria: Recent advances.
Erwin AL et al.
Molecular Genetics and Metabolism, 2019
Missense UROS mutations causing congenital erythropoietic porphyria reduce UROS homeostasis that can be rescued by proteasome inhibition.
Blouin JM et al.
Human Molecular Genetics, 2017
Therapeutic potential of proteasome inhibitors in congenital erythropoietic porphyria.
Blouin JM et al.
Proceedings of the National Academy of Sciences of the United States of America, 2013
Congenital erythropoietic porphyria: characterization of murine models of the severe common (C73R/C73R) and later-onset genotypes.
Bishop DF et al.
Molecular Medicine (cambridge, Mass.), 2011
Uroporphyrinogen III synthase mutations related to congenital erythropoietic porphyria identify a key helix for protein stability.
Fortian A et al.
Biochemistry, 2009
Congenital erythropoietic porphyria: advances in pathogenesis and treatment.
Desnick RJ et al.
British Journal of Haematology, 2002
Novel point mutation in the uroporphyrinogen III synthase gene causes congenital erythropoietic porphyria of a Japanese family.
Takamura N et al.
American Journal of Medical Genetics, 1997
Interdependence between degree of porphyrin excess and disease severity in congenital erythropoietic porphyria (Günther's disease).
Freesemann AG et al.
Archives of Dermatological Research, 1997
Congenital erythropoietic porphyria: clinical, biochemical, and enzymatic profile of a severely affected infant.
Huang JL et al.
Journal of the American Academy of Dermatology, 1996
A novel point mutation in congenital erythropoietic porphyria in two members of Japanese family.
Tanigawa K et al.
Human Genetics, 1996
Molecular basis of congenital erythropoietic porphyria: mutations in the human uroporphyrinogen III synthase gene.
Xu W et al.
Human Mutation, 1996
A systematic analysis of the mutations of the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria.
Fontanellas A et al.
European Journal of Human Genetics : Ejhg, 1996
Congenital erythropoietic porphyria: identification and expression of 10 mutations in the uroporphyrinogen III synthase gene.
Xu W et al.
The Journal of Clinical Investigation, 1995
Identification of two new mutations in congenital erythropoietic porphyria.
Bensidhoum M et al.
European Journal of Human Genetics : Ejhg, 1995
Congenital erythropoietic porphyria. A mild variant with low uroporphyrin I levels due to a missense mutation (A66V) encoding residual uroporphyrinogen III synthase activity.
Warner CA et al.
Archives of Dermatology, 1992
Congenital erythropoietic porphyria: identification and expression of exonic mutations in the uroporphyrinogen III synthase gene.
Warner CA et al.
The Journal of Clinical Investigation, 1992