[Risk genes in myopathies and mitochondrial diseases].
Sign Up to like & getrecommendations! Published in 2017 at "Der Nervenarzt"
DOI: 10.1007/s00115-017-0350-y
Abstract: Myopathies and mitochondrial diseases pose a major challenge in diagnosis due to the multitude of different entities and - in the case of mitochondriopathies - the possible involvement of multiple organs. Furthermore, there is broad clinical… read more here.
Keywords: myopathies mitochondrial; mitochondrial diseases; disease; genes myopathies ... See more keywords
[Search for risk genes in Alzheimer's disease].
Sign Up to like & getrecommendations! Published in 2017 at "Der Nervenarzt"
DOI: 10.1007/s00115-017-0354-7
Abstract: Alzheimer's disease (AD) is the most common form of neurodegenerative dementia. The susceptibility to AD is determined by a complex interaction between genetic, epigenetic, and environmental factors. Herein, the risk that can be attributed to genetic… read more here.
Keywords: risk; alzheimer disease; search risk; disease ... See more keywords
Connectome Disconnectivity and Cortical Gene Expression in Patients With Schizophrenia
Sign Up to like & getrecommendations! Published in 2017 at "Biological Psychiatry"
DOI: 10.1016/j.biopsych.2016.07.012
Abstract: BACKGROUND Genome-wide association studies have identified several common risk loci for schizophrenia (SCZ). In parallel, neuroimaging studies have shown consistent findings of widespread white matter disconnectivity in patients with SCZ. METHODS We examined the role… read more here.
Keywords: risk; scz risk; expression; patients scz ... See more keywords
M11 DE NOVO GENIC MUTATIONS AMONG A CHINESE AUTISM SPECTRUM DISORDER COHORT
Sign Up to like & getrecommendations! Published in 2017 at "European Neuropsychopharmacology"
DOI: 10.1016/j.euroneuro.2016.09.402
Abstract: Background Autism spectrum disorders (ASD) are characterized by impairments in social communication and restricted or repetitive behaviors or interests. ASD has a strong but complex genetic component and the prevalence worldwide has been estimated as… read more here.
Keywords: risk; autism; cohort; autism spectrum ... See more keywords
Prenatal Origins of ASD: The When, What, and How of ASD Development
Sign Up to like & getrecommendations! Published in 2020 at "Trends in Neurosciences"
DOI: 10.1016/j.tins.2020.03.005
Abstract: Autism spectrum disorder (ASD) is a largely heritable, multistage prenatal disorder that impacts a child's ability to perceive and react to social information. Most ASD risk genes are expressed prenatally in many ASD-relevant brain regions… read more here.
Keywords: broadly expressed; prenatal origins; brain specific; asd ... See more keywords
Brain transcriptome-wide association study implicates novel risk genes underlying schizophrenia risk.
Sign Up to like & getrecommendations! Published in 2023 at "Psychological medicine"
DOI: 10.1017/s0033291723000417
Abstract: BACKGROUND To identify risk genes whose expression are regulated by the reported risk variants and to explore the potential regulatory mechanism in schizophrenia (SCZ). METHODS We systematically integrated three independent brain expression quantitative traits (eQTLs)… read more here.
Keywords: tws genes; brain; transcriptome wide; risk genes ... See more keywords
Targeted sequencing and functional analysis reveal brain-size-related genes and their networks in autism spectrum disorders
Sign Up to like & getrecommendations! Published in 2017 at "Molecular Psychiatry"
DOI: 10.1038/mp.2017.140
Abstract: Autism spectrum disorder (ASD) represents a set of complex neurodevelopmental disorders with large degrees of heritability and heterogeneity. We sequenced 136 microcephaly or macrocephaly (Mic–Mac)-related genes and 158 possible ASD-risk genes in 536 Chinese ASD… read more here.
Keywords: related genes; asd; brain; autism spectrum ... See more keywords
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
Sign Up to like & getrecommendations! Published in 2020 at "Nature Communications"
DOI: 10.1038/s41467-020-18723-y
Abstract: Most genes associated with neurodevelopmental disorders (NDDs) were identified with an excess of de novo mutations (DNMs) but the significance in case–control mutation burden analysis is unestablished. Here, we sequence 63 genes in 16,294 NDD… read more here.
Keywords: large scale; scale targeted; targeted sequencing; neurodevelopmental disorders ... See more keywords
Autism genes converge on asynchronous development of shared neuron classes.
Sign Up to like & getrecommendations! Published in 2022 at "Nature"
DOI: 10.1038/s41586-021-04358-6
Abstract: Genetic risk for autism spectrum disorder (ASD) is associated with hundreds of genes spanning a wide range of biological functions1-6. The alterations in the human brain resulting from mutations in these genes remain unclear. Furthermore, their… read more here.
Keywords: risk; autism genes; cell; risk genes ... See more keywords
A Bayesian framework that integrates multi-omics data and gene networks predicts risk genes from schizophrenia GWAS data
Sign Up to like & getrecommendations! Published in 2019 at "Nature neuroscience"
DOI: 10.1038/s41593-019-0382-7
Abstract: Genome-wide association studies (GWAS) have identified more than 100 schizophrenia (SCZ)-associated loci, but using these findings to illuminate disease biology remains a challenge. Here we present integrative risk gene selector (iRIGS), a Bayesian framework that… read more here.
Keywords: risk; multi omics; omics data; gwas data ... See more keywords
Novel risk genes for systemic lupus erythematosus predicted by random forest classification
Sign Up to like & getrecommendations! Published in 2017 at "Scientific Reports"
DOI: 10.1038/s41598-017-06516-1
Abstract: Genome-wide association studies have identified risk loci for SLE, but a large proportion of the genetic contribution to SLE still remains unexplained. To detect novel risk genes, and to predict an individual’s SLE risk we… read more here.
Keywords: risk; forest classification; novel risk; random forest ... See more keywords