ReviewJournal of inherited metabolic disease2008
Dominant versus recessive: molecular mechanisms in metabolic disease.
Review in Journal of inherited metabolic disease, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 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
15 citing papers in PubMed, 33 citations in OpenAlex.
- Mapping the Severity of Phenylalanine Hydroxylase Deficiency.Journal of inherited metabolic disease · 2026Review
- Atypical free sialic acid storage disorder associated with tissue specific mosaicism of SLC17A5.Molecular genetics and metabolism · 2025Article
- Hyperphenylalaninemias genotyping: Results of over 60 years of history in Lombardy, Italy.Endocrinology, diabetes & metabolism · 2023Article
- Experimental method for haplotype phasing across the entire length of chromosome 21 in trisomy 21 cells using a chromosome elimination technique.Journal of human genetics · 2022Article
- Diagnosis and treatment of icteric hepatitis caused by erythropoietic protoporphyria: A case report.Liver research (Beijing, China) · 2022Article
- One drug to treat many diseases: unlocking the economic trap of rare diseases.Metabolic brain disease · 2020Review
- The Genetic Landscape and Epidemiology of Phenylketonuria.American journal of human genetics · 2020Article
- Characterization of Phenyalanine Hydroxylase Gene Mutations in Chilean PKU Patients.JIMD reports · 2018Article
- Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation.Genetics in medicine : official journal of the American College of Medical Genetics · 2017Article
- Phasing for medical sequencing using rare variants and large haplotype reference panels.Bioinformatics (Oxford, England) · 2016Article
- Porphyria Diagnostics-Part 1: A Brief Overview of the Porphyrias.Current protocols in human genetics · 2015Review
- Whole-genome haplotype reconstruction using proximity-ligation and shotgun sequencing.Nature biotechnology · 2013Article
- Heterozygosity for an in-frame deletion causes glutaryl-CoA dehydrogenase deficiency in a patient detected by newborn screening: investigation of the effect of the mutant allele.Journal of inherited metabolic disease · 2012Article
- The importance of phase information for human genomics.Nature reviews. Genetics · 2011Review
- Statistical analysis strategies for association studies involving rare variants.Nature reviews. Genetics · 2010Review
Corrections and comments
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Authors and funding
1 author at 1 institution in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Inborn errors of metabolism used to be regarded as simple monogenic traits, but a closer look at how different alleles of a gene determine different phenotypes shows that the molecular mechanisms in the individual case are often complicated. Most metabolic disorders represent a spectrum of phenotypes from normal via attenuated to severe (and sometimes prenatally fatal), and disease manifestation is often influenced by other specific genetic or exogenous factors. The terms 'dominant' or 'recessive' relate to the functional consequences of differing alleles in the (compound) heterozygous individual; the terms are irrelevant for homozygous individuals and inappropriate for X-linked disorders. Mutations affecting the same amino acid residue may be associated with different inheritance patterns. True dominant inheritance in metabolism is rare; it may be found e.g. in tightly regulated biosynthetic pathways or when minor changes in metabolite concentrations have a functional effect. Some disorders such as erythropoietic protoporphyria show pseudodominant inheritance due to prevalent loss-of-function polymorphisms in the general population and are better acknowledged as recessive traits. The term 'variable expressivity' is not helpful with regard to autosomal recessive disorders when variable phenotypes are explained by different mutations in the respective gene. Clonal unmasking of a heterozygous mutation through somatic loss of the second allele, the main pathomechanism in inherited tumour predisposition syndromes, is rare in metabolic disorders, but focal congenital hyperinsulinism is a notable exception. Somatic mosaicism for an OTC gene mutation is given as an example of an apparently heterozygous mutation pattern in a boy with an X-linked disease.
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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.