Article

Interpreting ciliopathy-associated missense variants of uncertain significance (VUS) in an animal model

2021-06-17

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Purpose</h4> Better methods are required to interpret the pathogenicity of disease-associated variants of uncertain significance (VUS), which cannot be actioned clinically. In this study, we explore the use of a tractable animal model ( Caenorhabditis elegans ) for in vivo interpretation of missense VUS alleles of TMEM67 , a cilia gene associated with ciliopathies. <h4>Methods</h4> CRI...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: cbefe3b4-84f2-5ae3-8e6f-0ecf8a7b032d
DOI: 10.1101/2021.06.17.448799

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Interpreting ciliopathy-associated missense variants of uncertain significance (VUS) in an animal modelDOI 10.1101/2021.06.17.448799Read

Interpreting the pathogenicity of Joubert Syndrome missense variants in <i>Caenorhabditis elegans</i>Semantic proximity Read

Interpreting the pathogenicity of Joubert syndrome missense variants in Caenorhabditis elegans.Semantic proximity Read

Matching Variants for functional characterization of genetic variantsSemantic proximity Read

Missense Variants in the Second Transmembrane Domain of TMEM17 Disrupt Its Stability and Function and Lead to a Wide Phenotypic Spectrum of Ciliopathies.Semantic proximity Read

Establishing a Zebrafish Functional Assay to Assess the Pathogenicity of Variants of Uncertain Significance in Ciliopathies.Semantic proximity Read

Identification of a homozygous nonsense mutation in KIAA0556 in a consanguineous family displaying Joubert syndrome.Semantic proximity Read

Functional classification of <i>GNAI1</i> disorder variants in <i>C. elegans</i> uncovers conserved and cell-specific mechanisms of dysfunctionSemantic proximity Read

<i>Caenorhabditis elegans</i> models for striated muscle disorders caused by missense variants of human <i>LMNA</i>Semantic proximity Read

CRISPR-Cas9 human gene replacement and phenomic characterization in <i>Caenorhabditis elegans</i> to understand the functional conservation of human genes and decipher variants of uncertain significanceSemantic proximity Read

A Gene Replacement Humanization Platform for Rapid Functional Testing of Clinical Variants in Epilepsy-associated <i>STXBP1</i>Semantic proximity Read

Toward the Pathogenicity of the SLC26A4 p.C565Y Variant Using a Genetically Driven Mouse Model.Semantic proximity Read

Functional classification of GNAI1 disorder variants in Caenorhabditis elegans uncovers conserved and cell-specific mechanisms of dysfunction.Semantic proximity Read