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

Common polymorphic OTC variants can act as genetic modifiers of enzymatic activity.

Human mutation - 1 Aug 2021

Lopes-Marques Mónica, Pacheco Ana Rita, Peixoto Maria João, Cardoso Ana Rita, Serrano Catarina, Amorim António, Prata Maria João, Cooper David N, Azevedo Luísa

Abstract excerpt

Understanding the role of common polymorphisms in modulating the clinical phenotype when they co-occur with a disease-causing lesion is of critical importance in medical genetics. We explored the impact of apparently neutral common polymorphisms, using the gene encoding the urea cycle enzyme, ornithine transcarbamylase (OTC), as a model system. Distinct combinations of genetic backgrounds embracing two missense...

Read the complete abstract on PubMed

Topics

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

Share to Alleles
Share to Mutation, Missense

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Ornithine Carbamoyltransferase

Share to Ornithine Carbamoyltransferase Deficiency Disease

Share to Polymorphism, Genetic

Source

Open in PubMed Open full text

Identifiers

PMID: 34015158
DOI: 10.1002/humu.24221
PMCID: PMC8362079

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Common polymorphic OTC variants can act as genetic modifiers of enzymatic activity.PMID 34015158Read ↗

Genotype-Phenotype Correlations in Ornithine Transcarbamylase Deficiency: A Mutation Update.Semantic proximity Read ↗

Biochemical Characterization of Disease-Associated Variants of Human Ornithine Transcarbamylase.Semantic proximity Read ↗

The functional impact of 1,570 SNP-accessible missense variants in human <i>OTC</i>Semantic proximity Read ↗

Mutations and polymorphisms in the human ornithine transcarbamylase gene: mutation update addendum.Semantic proximity Read ↗

Mutation Study of Malaysian Patients with Ornithine Transcarbamylase Deficiency: Clinical, Molecular, and Bioinformatics Analyses of Two Novel Missense Mutations of the OTC Gene.Semantic proximity Read ↗

Disease-causing mutations in the promoter and enhancer of the ornithine transcarbamylase gene.Semantic proximity Read ↗

Identification of novel mutations in the human ornithine transcarbamylase (OTC) gene of Korean patients with OTC deficiency and transient expression of the mutant proteins in vitro.Semantic proximity Read ↗

The biochemical and molecular spectrum of ornithine transcarbamylase deficiency.Semantic proximity Read ↗

Two commonly reported incidental variants in OTC are associated with late-onset disease.Semantic proximity Read ↗

Clinical and genetic analysis of five Chinese patients with urea cycle disorders.Semantic proximity Read ↗

Pedigree and Functional Analysis of Two Cryptic OTC Variants Causing Ornithine Transcarbamylase Deficiency in Two Unrelated Chinese Male Patients.Semantic proximity Read ↗

Estimation of the total number of disease-causing mutations in ornithine transcarbamylase (OTC) deficiency. Value of the OTC structure in predicting a mutation pathogenic potential.Semantic proximity Read ↗

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