ArticleAmerican journal of human genetics1996
Modulation of the phenotype in dominant erythropoietic protoporphyria by a low expression of the normal ferrochelatase allele.
Article in American journal of human genetics, 1996. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
25 citing papers in PubMed, 102 citations in OpenAlex.
- Erythropoietic protoporphyria linked to intricate double heterozygous mutations in theFECH gene: a case report and literature review.Orphanet journal of rare diseases · 2025Review
- Erythropoietic protoporphyrias: Pathogenesis, diagnosis and management.Liver international : official journal of the International Association for the Study of the Liver · 2025Review
- An Enigmatic Case of Jaundice and Photosensitivity in an Adolescent.ACG case reports journal · 2023Article
- Ferrochelatase: Mapping the Intersection of Iron and Porphyrin Metabolism in the Mitochondria.Frontiers in cell and developmental biology · 2022Review
- Recent advances on porphyria genetics: Inheritance, penetrance & molecular heterogeneity, including new modifying/causative genes.Molecular genetics and metabolism · 2019Review
- Heme biosynthesis and the porphyrias.Molecular genetics and metabolism · 2019Review
- Mutation in humanProceedings of the National Academy of Sciences of the United States of America · 2017Article
- Porphyria Diagnostics-Part 1: A Brief Overview of the Porphyrias.Current protocols in human genetics · 2015Review
- Genetic modifiers and oligogenic inheritance.Cold Spring Harbor perspectives in medicine · 2015Review
- Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome.American journal of human genetics · 2014Article
- Antisense oligonucleotide-based therapy in human erythropoietic protoporphyria.American journal of human genetics · 2014Article
- Loss-of-function ferrochelatase and gain-of-function erythroid-specific 5-aminolevulinate synthase mutations causing erythropoietic protoporphyria and x-linked protoporphyria in North American patients reveal novel mutations and a high prevalence of X-linked protoporphyria.Molecular medicine (Cambridge, Mass.) · 2013Article
- Detection and impact of rare regulatory variants in human disease.Frontiers in genetics · 2013Article
- Unravelling the genetic basis of variable clinical expression in neurofibromatosis 1.Human molecular genetics · 2009Article
- Identifying modifier genes of monogenic disease: strategies and difficulties.Human genetics · 2008Review
- Liver disease in erythropoietic protoporphyria: insights and implications for management.Postgraduate medical journal · 2007Review
- Review
- Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria.American journal of human genetics · 2006Article
- Production and characterization of erythropoietic protoporphyric heterodimeric ferrochelatases.Blood · 2005Article
- Modulation of penetrance by the wild-type allele in dominantly inherited erythropoietic protoporphyria and acute hepatic porphyrias.Human genetics · 2004Article
Corrections and comments
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Erythropoietic protoporphyria (EPP) is a monogenic inherited disorder of the heme biosynthetic pathway due to ferrochelatase (FC) deficiency. EPP is generally considered to be transmitted as an autosomal dominant disease with incomplete penetrance, although autosomal recessive inheritance has been documented at the enzymatic and molecular level in some families. In the dominant form of EPP, statistical analysis of FC activities documented a significantly lower mean value in patients than in asymptomatic carriers, suggesting a more complex mode of inheritance. To account for these findings, we tested a multiallelic inheritance model in one EPP family in which the enzymatic data were compatible with this hypothesis. In this EPP family, the specific FC gene mutation was an exon 10 skipping (delta Ex10), resulting from a G deletion within the exon 10 consensus splice donor site. The segregation of all FC alleles within the family was followed using the delta Ex10 mutation and a new intragenic dimorphism (1520 C/T). mRNAs transcribed from each FC allele were then subjected to relative quantification by a primer extension assay and to absolute quantification by a ribonuclease protection assay. The data support the hypothesis that in this family the EPP phenotype results from the coinheritance of a low output normal FC allele and a mutant delta Ex10 allele.
Indexed as
Identifiers
8571955PMC1914527W1591206419What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.