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Oligogenic inheritance in severe adult obesity
Background/objectiveThe genetic architecture of extreme non-syndromic obesity in adults remains to be elucidated. A range of genes are known to cause...
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Oligogenic basis of premature ovarian insufficiency: an observational study
BackgroundThe etiology of premature ovarian insufficiency, that is, the loss of ovarian activity before 40 years of age, is complex. Studies suggest...
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Congenital hydrocephalus: new Mendelian mutations and evidence for oligogenic inheritance
BackgroundCongenital hydrocephalus is characterized by ventriculomegaly, defined as a dilatation of cerebral ventricles, and thought to be due to...
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Next-generation sequencing of 500 POI patients identified novel responsible monogenic and oligogenic variants
BackgroundPremature ovarian insufficiency refers to the loss of ovarian function before 40 years of age. The etiology is heterogeneous, and genetic...
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Rare CACNA1H and RELN variants interact through mTORC1 pathway in oligogenic autism spectrum disorder
Oligogenic inheritance of autism spectrum disorder (ASD) has been supported by several studies. However, little is known about how the risk variants...
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Hypertrophic Cardiomyopathy as an Oligogenic Disease: Transcriptomic Arguments
Abstract—Hypertrophic cardiomyopathy (HCM) is the most common genetically determined heart pathology and is often accompanied by fatal complications....
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Characterizing the oligogenic architecture of plant growth phenotypes informs genomic selection approaches in a common wheat population
BackgroundGenetic variation in growth over the course of the season is a major source of grain yield variation in wheat, and for this reason variants...
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Risk prediction of late-onset Alzheimer’s disease implies an oligogenic architecture
Genetic association studies have identified 44 common genome-wide significant risk loci for late-onset Alzheimer’s disease (LOAD). However, LOAD...
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A knowledge graph approach to predict and interpret disease-causing gene interactions
BackgroundUnderstanding the impact of gene interactions on disease phenotypes is increasingly recognised as a crucial aspect of genetic disease...
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The mutational burden and oligogenic inheritance in Klippel-Feil syndrome
BackgroundKlippel-Feil syndrome (KFS) represents a rare anomaly characterized by congenital fusion of the cervical vertebrae. The underlying...
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A pilot study of childhood-onset Takayasu arteritis using whole exome sequencing suggests oligogenic inheritance involving classical complement, collagen, and autoinflammatory pathways
Takayasu arteritis (TA) is a chronic granulomatous inflammatory disease affecting the aorta and its branches. Paediatric TA (pTA) may present from...
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Faster and more accurate pathogenic combination predictions with VarCoPP2.0
BackgroundThe prediction of potentially pathogenic variant combinations in patients remains a key task in the field of medical genetics for the...
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Characterization of grain carotenoids in global sorghum germplasm to guide genomics-assisted breeding strategies
BackgroundCrop biofortification is a successful strategy to ameliorate Vitamin A deficiency. Sorghum is a good candidate for vitamin A...
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Presence of Rare Variants is Associated with Poorer Survival in Chinese Patients with Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder with phenotypic and genetic heterogeneity. Recent studies have suggested an...
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Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome
Bardet–Biedl syndrome (BBS) is an autosomal recessive ciliopathy characterized by extensive inter- and intra-familial variability, in which...
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Mutation screening of eight genes and comparison of the clinical data in a Chinese cohort with congenital hypothyroidism
BackgroundCongenital hypothyroidism (CH) is a common neonatal endocrine disorder, characterized by irreversible intellectual disability and short...
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Multiallelic rare variants support an oligogenic origin of sudden cardiac death in the young
Unexplained sudden death in the young is cardiovascular in most cases. Structural and conduction defects in cardiac-related genes can conspire to...
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Stem cell models of inherited arrhythmias
Inherited arrhythmias are a heterogeneous group of conditions that confer risk of sudden death. Many inherited arrhythmias have been linked to...
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Proteasome-Associated Syndromes: Updates on Genetics, Clinical Manifestations, Pathogenesis, and Treatment
The ubiquitin–proteasome system (UPS) has a critical role in post-translational protein modification that is essential for the maintenance of all...
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Clinical implications of genetic testing in familial intermediate and late-onset colorectal cancer
The genetic background of familial, late-onset colorectal cancer (CRC) (i.e., onset > age 50 years) has not been studied as thoroughly as other...