Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland
Sign Up to like & getrecommendations! Published in 2021 at "Human Genetics"
DOI: 10.1007/s00439-021-02268-1
Abstract: The genetics of autosomal recessive intellectual disability (ARID) has mainly been studied in consanguineous families, however, founder populations may also be of interest to study intellectual disability (ID) and the contribution of ARID. Here, we… read more here.
Keywords: intellectual disability; novo variants; founder; founder population ... See more keywords
Heritability in a SCN5A-mutation founder population with increased female susceptibility to non-nocturnal ventricular tachyarrhythmia and sudden cardiac death.
Sign Up to like & getrecommendations! Published in 2017 at "Heart rhythm"
DOI: 10.1016/j.hrthm.2017.07.036
Abstract: BACKGROUND Heritable cardiac-sodium channel dysfunction is associated with various arrhythmia syndromes, some predisposing to ventricular fibrillation. Phenotypic diversity among carriers of identical-by-descent mutations is often remarkable, suggesting influences of genetic modifiers. OBJECTIVE The purpose of… read more here.
Keywords: heritability; founder population; scn5a mutation; mutation ... See more keywords
Generation of two human induced pluripotent stem cell (hiPSC) lines from a long QT syndrome South African founder population.
Sign Up to like & getrecommendations! Published in 2019 at "Stem cell research"
DOI: 10.1016/j.scr.2019.101510
Abstract: We generated PSMi001-A and PSMi008-A hiPSC lines from two individuals belonging to a South African (SA) founder population in which the malignant KCNQ1-A341V mutation cosegregates with the Long QT Syndrome (LQTS) phenotype. PSMi001-A was derived… read more here.
Keywords: founder population; population; stem cell;
Rare non-coding variants are associated with plasma lipid traits in a founder population
Sign Up to like & getrecommendations! Published in 2017 at "Scientific Reports"
DOI: 10.1038/s41598-017-16550-8
Abstract: Founder populations are ideally suited for studies on the clinical effects of alleles that are rare in general populations but occur at higher frequencies in these isolated populations. Whole genome sequencing in 98 Hutterites, a… read more here.
Keywords: founder; founder population; rare non; non coding ... See more keywords
Ocular biometry and determinants of refractive error in a founder population of European ancestry
Sign Up to like & getrecommendations! Published in 2018 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2017.1326509
Abstract: ABSTRACT Background: The prevalence of myopia is increasing worldwide. Previous studies have found a positive association between myopia, education, and near activities, while others have noted a negative association with outdoor exposure. This study reports… read more here.
Keywords: population european; error; founder population; refractive error ... See more keywords
Deciphering the genetic structure of the Quebec founder population using genealogies
Sign Up to like & getrecommendations! Published in 2022 at "European Journal of Human Genetics"
DOI: 10.1101/2022.09.19.508491
Abstract: Using genealogy to study the demographic history of a population makes it possible to overcome the models and assumptions often used in population genetics. The Quebec founder population is one of the few populations in… read more here.
Keywords: structure; genealogy; quebec founder; population ... See more keywords
Strains Colonizing Different Intestinal Sites within an Individual Are Derived from a Single Founder Population
Sign Up to like & getrecommendations! Published in 2023 at "mBio"
DOI: 10.1128/mbio.03456-22
Abstract: By reconstructing bacterial genomes from samples taken from specific sites within the human intestines, via aspiration, we show that strains at specific intestinal sites are genetically distinct yet interrelated and are derived from a single… read more here.
Keywords: sites within; intestinal sites; single founder; derived single ... See more keywords