Congenital erythropoietic porphyria: identification and expression of 10 mutations in the uroporphyrinogen III synthase gene.
about
Familial porphyria cutanea tarda: characterization of seven novel uroporphyrinogen decarboxylase mutations and frequency of common hemochromatosis alleles.Effective gene therapy of mice with congenital erythropoietic porphyria is facilitated by a survival advantage of corrected erythroid cellsCloning and expression of zebrafish genes encoding the heme synthesis enzymes uroporphyrinogen III synthase (UROS) and protoporphyrinogen oxidase (PPO)Uroporphyrinogen III synthase erythroid promoter mutations in adjacent GATA1 and CP2 elements cause congenital erythropoietic porphyriaThe cutaneous porphyrias: a review. The British Photodermatology Group.Feline congenital erythropoietic porphyria: two homozygous UROS missense mutations cause the enzyme deficiency and porphyrin accumulation.Intracellular rescue of the uroporphyrinogen III synthase activity in enzymes carrying the hotspot mutation C73R.Uroporphyrinogen III synthase knock-in mice have the human congenital erythropoietic porphyria phenotype, including the characteristic light-induced cutaneous lesions.Congenital erythropoietic porphyria: advances in pathogenesis and treatment.Clinically important features of porphyrin and heme metabolism and the porphyrias.Inducing iron deficiency improves erythropoiesis and photosensitivity in congenital erythropoietic porphyria.Porphyria Diagnostics-Part 1: A Brief Overview of the Porphyrias.Congenital Erythropoietic Porphyria with Undescended Testis.Cutaneous porphyrias part I: epidemiology, pathogenesis, presentation, diagnosis, and histopathology.Uroporphyrinogen III synthase. An alternative promoter controls erythroid-specific expression in the murine gene.Missense UROS mutations causing congenital erythropoietic porphyria reduce UROS homeostasis that can be rescued by proteasome inhibition.Prenatal diagnosis in congenital erythropoietic porphyria by metabolic measurement and DNA mutation analysis.Mutational analysis of uroporphyrinogen III cosynthase gene in Iranian families with congenital erythropoietic porphyria.Suppression of the barley uroporphyrinogen III synthase gene by a Ds activation tagging element generates developmental photosensitivity.Novel point mutation in the uroporphyrinogen III synthase gene causes congenital erythropoietic porphyria of a Japanese family.Congenital erythropoietic porphyria affecting two brothersA puzzling mutation in congenital erythropoietic porphyria and an association with β-thalassaemia trait
P2860
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P2860
Congenital erythropoietic porphyria: identification and expression of 10 mutations in the uroporphyrinogen III synthase gene.
description
1995 nî lūn-bûn
@nan
1995 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
1995 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
1995年の論文
@ja
1995年論文
@yue
1995年論文
@zh-hant
1995年論文
@zh-hk
1995年論文
@zh-mo
1995年論文
@zh-tw
1995年论文
@wuu
name
Congenital erythropoietic porp ...... rphyrinogen III synthase gene.
@ast
Congenital erythropoietic porp ...... rphyrinogen III synthase gene.
@en
Congenital erythropoietic porp ...... rphyrinogen III synthase gene.
@nl
type
label
Congenital erythropoietic porp ...... rphyrinogen III synthase gene.
@ast
Congenital erythropoietic porp ...... rphyrinogen III synthase gene.
@en
Congenital erythropoietic porp ...... rphyrinogen III synthase gene.
@nl
prefLabel
Congenital erythropoietic porp ...... rphyrinogen III synthase gene.
@ast
Congenital erythropoietic porp ...... rphyrinogen III synthase gene.
@en
Congenital erythropoietic porp ...... rphyrinogen III synthase gene.
@nl
P2093
P2860
P356
P1476
Congenital erythropoietic porp ...... rphyrinogen III synthase gene.
@en
P2093
P2860
P304
P356
10.1172/JCI117742
P407
P577
1995-02-01T00:00:00Z