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Showing 1-20 of 49 results
  1. 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

    Background

    Neurodevelopmental disorders are heterogeneous due to underlying multiple shared genetic pathways and risk factors. Intellectual...

    Behjat Ul Mudassir, Zehra Agha in Molecular Biology Reports
    Article 05 February 2024
  2. 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...

    Matt S. Dawson, Kevin Gordon-Fleet, ... Uwe Drescher in Communications Biology
    Article Open access 15 August 2023
  3. 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,...

    Mohammad Sarowar Uddin, Atkia Azima, ... Mohammad Safiqul Islam in Human Cell
    Article 05 May 2021
  4. 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...

    D R Rahul, R Joseph Ponniah in Journal of Biosciences
    Article 06 July 2022
  5. 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...

    Niamh M. Ryan, Elizabeth A. Heron in Journal of Applied Genetics
    Article Open access 30 January 2023
  6. Genome-wide variant-based study of genetic effects with the largest neuroanatomic coverage

    Background

    Brain image genetics provides enormous opportunities for examining the effects of genetic variations on the brain. Many studies have shown...

    ** Li, Wenjie Liu, ... Shiaofen Fang in BMC Bioinformatics
    Article Open access 30 April 2021
  7. Is pseudoexfoliation glaucoma a neurodegenerative disorder?

    Pseudoexfoliation (PEX) is a systemic age-related progressive disorder with ocular manifestations. The earlier stage of the disease,...

    Biswajit Padhy, Debasmita Pankaj Alone in Journal of Biosciences
    Article 08 November 2021
  8. 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...

    Linda George, Rani Alex, ... Archana Verma in Tropical Animal Health and Production
    Article 15 May 2023
  9. 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...

    Levi Adams, Min Kyung Song, ... Yoon-Seong Kim in Nature Aging
    Article 15 March 2024
  10. 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...

    A. S. Ryzhkova, A. A. Khabarova, ... T. A. Shnaider in Cell and Tissue Biology
    Article 12 December 2022
  11. SHANK3 genetic polymorphism and susceptibility to ASD: evidence from molecular, in silico, and meta-analysis approaches

    Background

    The SHANK3 gene encodes a master synaptic scaffolding protein at the excitatory synapse’s postsynaptic density, which is predominantly...

    Hafsa Siddiqua, Yasmin Akter, ... Lolo Wal Marzan in Molecular Biology Reports
    Article 11 July 2022
  12. 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...

    Michael T. Ullman, Gillian M. Clark, ... Peter E. Turkeltaub in Nature Human Behaviour
    Article 15 March 2024
  13. 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...

    David G. McVey, Catherine Andreadi, ... Shu Ye in Cell Death & Disease
    Article Open access 08 June 2024
  14. 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...

    Qiaolifan Aerqin, Zuo-Teng Wang, ... **-Tai Yu in Cellular and Molecular Life Sciences
    Article 08 November 2022
  15. 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...

    Shilei Zhao, Lianjiang Chi, Hua Chen in Genome Biology
    Article Open access 03 October 2023
  16. 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...

    Colin M. Brand, Laura L. Colbran, John A. Capra in Nature Ecology & Evolution
    Article 04 May 2023
  17. 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...

    Peter A. Perrino, Lidiya Talbot, ... Dianne F. Newbury in Communications Biology
    Article Open access 20 April 2020
  18. Selection shapes the landscape of functional variation in wild house mice

    Background

    Through human-aided dispersal over the last ~ 10,000 years, house mice ( Mus musculus ) have recently colonized diverse habitats across the...

    Raman Akinyanju Lawal, Uma P. Arora, Beth L. Dumont in BMC Biology
    Article Open access 19 November 2021
  19. 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...

    Yihan Li, Simon M. Laws, ... Ben J. Gu in Cellular and Molecular Life Sciences
    Article 27 October 2021
  20. Differential gene regulatory pattern in the human brain from schizophrenia using transcriptomic-causal network

    Background

    Common and complex traits are the consequence of the interaction and regulation of multiple genes simultaneously, therefore characterizing...

    Akram Yazdani, Raul Mendez-Giraldez, ... Panos Roussos in BMC Bioinformatics
    Article Open access 21 October 2020
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