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Novel and known minor alleles of CNTNAP2 gene variants are associated with comorbidity of intellectual disability and epilepsy phenotypes: a case–control association study reveals potential biomarkers
BackgroundNeurodevelopmental disorders are heterogeneous due to underlying multiple shared genetic pathways and risk factors. Intellectual...
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Sexual dimorphism in the social behaviour of Cntnap2-null mice correlates with disrupted synaptic connectivity and increased microglial activity in the anterior cingulate cortex
A biological understanding of the apparent sex bias in autism is lacking. Here we have identified Cntnap2 KO mice as a model system to help better...
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CNTNAP2 gene polymorphisms in autism spectrum disorder and language impairment among Bangladeshi children: a case–control study combined with a meta-analysis
Autism spectrum disorder (ASD) is a multifactorial neurodevelopmental disorder characterized by communication deficits, impaired social interactions,...
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A systematic review of associations between genetic polymorphism and dyslexia in the Indian population
There is growing interest in understanding the genetic mechanisms underlying dyslexia. Accordingly, the literature on dyslexia is replete with shreds...
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Evidence for parent-of-origin effects in autism spectrum disorder: a narrative review
Autism spectrum disorder (ASD) is a heterogeneous group of early-onset neurodevelopmental disorders known to be highly heritable with a complex...
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Genome-wide variant-based study of genetic effects with the largest neuroanatomic coverage
BackgroundBrain image genetics provides enormous opportunities for examining the effects of genetic variations on the brain. Many studies have shown...
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Is pseudoexfoliation glaucoma a neurodegenerative disorder?
Pseudoexfoliation (PEX) is a systemic age-related progressive disorder with ocular manifestations. The earlier stage of the disease,...
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Genetic improvement of economic traits in Murrah buffalo using significant SNPs from genome-wide association study
GWAS helps to identify QTL and candidate genes of specific traits. Buffalo breeding has primarily focused on milk production, but its negative...
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A single-nuclei paired multiomic analysis of the human midbrain reveals age- and Parkinson’s disease–associated glial changes
Age is the primary risk factor for Parkinson’s disease (PD), but how aging changes the expression and regulatory landscape of the brain remains...
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HARs: History, Functions, and Role in the Evolution and Pathogenesis of Human Diseases
Abstract —It is thought that changes in mechanisms of gene regulation have played the critical role in human evolution, rather than changes in...
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SHANK3 genetic polymorphism and susceptibility to ASD: evidence from molecular, in silico, and meta-analysis approaches
BackgroundThe SHANK3 gene encodes a master synaptic scaffolding protein at the excitatory synapse’s postsynaptic density, which is predominantly...
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The neuroanatomy of developmental language disorder: a systematic review and meta-analysis
Developmental language disorder (DLD) is a common neurodevelopmental disorder with adverse impacts that continue into adulthood. However, its neural...
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Genetic influence on vascular smooth muscle cell apoptosis
Vascular smooth muscle cell (VSMC) proliferation, migration, and apoptosis play important roles in many physiological processes and pathological...
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Omics-based biomarkers discovery for Alzheimer's disease
Alzheimer’s disease (AD) is the most common neurodegenerative disorders presenting with the pathological hallmarks of amyloid plaques and tau...
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CEGA: a method for inferring natural selection by comparative population genomic analysis across species
We developed maximum likelihood method for detecting positive selection or balancing selection using multilocus or genomic polymorphism and...
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Resurrecting the alternative splicing landscape of archaic hominins using machine learning
Alternative splicing contributes to adaptation and divergence in many species. However, it has not been possible to directly compare splicing between...
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Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes
Language development builds upon a complex network of interacting subservient systems. It therefore follows that variations in, and subclinical...
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Selection shapes the landscape of functional variation in wild house mice
BackgroundThrough human-aided dispersal over the last ~ 10,000 years, house mice ( Mus musculus ) have recently colonized diverse habitats across the...
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Genomics of Alzheimer’s disease implicates the innate and adaptive immune systems
Alzheimer’s disease (AD) is a chronic neurodegenerative disease characterised by cognitive impairment, behavioural alteration, and functional...
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Differential gene regulatory pattern in the human brain from schizophrenia using transcriptomic-causal network
BackgroundCommon and complex traits are the consequence of the interaction and regulation of multiple genes simultaneously, therefore characterizing...