Back to search

Article

A common <i>cis</i> -regulatory variant impacts normal-range and disease-associated human facial shape through regulation of <i>PKDCC</i> during chondrogenesis

2022-09-05

Abstract excerpt

Genome-wide association studies (GWAS) identified thousands of genetic variants linked to phenotypic traits and disease risk. However, mechanistic understanding of how GWAS variants influence complex morphological traits and can, in certain cases, simultaneously confer normal-range phenotypic variation and disease predisposition, is still largely lacking. Here, we focus on rs6740960 , a single nucleotide polymorp...

Topics

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

Identifiers and source

Literature Corpus work
fde62c4a-daf8-5059-8e95-6e542b9cac97
DOI
10.1101/2022.09.05.506587
Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest
Interactive article relationship graphSelect a related publication card to move it into the centre and load its closest explainable connections. Solid lines are source-backed structured connections. Dashed lines are semantic discovery signals and are not scientific evidence.
A common <i>cis</i> -regulatory variant impacts normal-range and disease-associated human facial shape through regulation of <i>PKDCC</i> during chondrogenesisDOI 10.1101/2022.09.05.506587
Leveraging the genetics of human face shape boosts the discovery of orofacial cleft risk lociSemantic proximity
Leveraging the genetics of human face shape boosts the discovery of orofacial cleft risk lociSemantic proximity
Identification of common non-coding variants at 1p22 that are functional for non-syndromic orofacial clefting.Semantic proximity
Evolutionary Selection and Constraint on Human Knee Chondrocyte Regulation Impacts Osteoarthritis Risk.Semantic proximity
Novel genetic loci affecting facial shape variation in humans.Semantic proximity
A multiomic atlas of human early skeletal developmentSemantic proximity
Multi-tissue epigenetic analysis of the osteoarthritis susceptibility locus mapping to the plectin gene <i>PLEC</i>Semantic proximity
Insights into the genetic architecture of the human faceSemantic proximity
The Functional Impact of the Noncoding SNP rs3741442 on Orofacial Clefting.Semantic proximity
A genome-wide association study identifies five loci influencing facial morphology in Europeans.Semantic proximity
Novel genetic loci affecting facial shape variation in humansSemantic proximity
Epigenetic mechanisms of osteoarthritis risk in human skeletal developmentSemantic proximity
Select a neighboring publication to make it the new centre.