Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Modulation of penetrance by the wild-type allele in dominantly inherited erythropoietic protoporphyria and acute hepatic porphyrias.

Human genetics - 1 Feb 2004

Gouya Laurent, Puy Hervé, Robreau Anne-Marie, Lyoumi Said, Lamoril Jérome, Da Silva Vasco, Grandchamp Bernard, Deybach Jean-Charles

Abstract excerpt

We have recently demonstrated that in an autosomal dominant porphyria, erythropoietic protoporphyria (EPP), the coinheritance of a ferrochelatase (FECH) gene defect and of a wild-type low-expressed FECH allele is generally involved in the clinical expression of EPP. This mechanism may provide a model for phenotype modulation by minor variations in the expression of the wild-type allele in the other three...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Acute Disease
Share to Ferrochelatase

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Flavoproteins

Share to Hydroxymethylbilane Synthase

Share to Mitochondrial Proteins

Share to Oxidoreductases Acting on CH-CH Group Donors

Share to Penetrance

Share to Protoporphyrinogen Oxidase

Source

Identifiers

PMID: 14669009
DOI: 10.1007/s00439-003-1059-5

Genes

CPO
AIP
FECH
HMBS
PPOX

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Modulation of penetrance by the wild-type allele in dominantly inherited erythropoietic protoporphyria and acute hepatic porphyrias.PMID 14669009Read ↗

Inheritance in erythropoietic protoporphyria: a common wild-type ferrochelatase allelic variant with low expression accounts for clinical manifestation.Semantic proximity Read ↗

Novel null-allele mutations and genotype-phenotype correlation in Argentinean patients with erythropoietic protoporphyria.Semantic proximity Read ↗

New insights into the pathogenesis of erythropoietic protoporphyria and their impact on patient care.Semantic proximity Read ↗

The penetrance of dominant erythropoietic protoporphyria is modulated by expression of wildtype FECH.Semantic proximity Read ↗

Heterogeneity of mutations in the ferrochelatase gene in Italian patients with erythropoietic protoporphyria.Semantic proximity Read ↗

Molecular mechanisms of dominant expression in porphyriaSemantic proximity Read ↗

Systematic analysis of molecular defects in the ferrochelatase gene from patients with erythropoietic protoporphyria.Semantic proximity Read ↗

Hypermethylation of the wild-type ferrochelatase allele is closely associated with severe liver complication in a family with erythropoietic protoporphyria.Semantic proximity Read ↗

From a dominant to an oligogenic model of inheritance with environmental modifiers in acute intermittent porphyriaSemantic proximity Read ↗

A novel large deletion and three polymorphisms in the FECH gene associated with erythropoietic protoporphyria.Semantic proximity Read ↗

Biochemical abnormality in erythropoietic protoporphyria: cause and consequences.Semantic proximity Read ↗

Modulation of the phenotype in dominant erythropoietic protoporphyria by a low expression of the normal ferrochelatase allele.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.