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Association of variants in the KIF1A gene with amyotrophic lateral sclerosis
BackgroundAmyotrophic lateral sclerosis (ALS) is a devastating progressive neurodegenerative disease that affects neurons in the central nervous...
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A Novel de novo KIF1A Mutation in a Patient with Ataxia, Intellectual Disability and Mild Foot Deformity
Early-onset ataxias are often difficult to diagnose due to the genetic and phenotypic heterogeneity of patients. Whole exome sequencing (WES) is a...
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Reconstitution of Neuronal Motor Traffic on Septin-Associated Microtubules
Reconstitution of intracellular transport in cell-free in vitro assays enables the understanding and dissection of the molecular mechanisms that...
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KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia
Variants in the KIF1A gene can cause autosomal recessive spastic paraplegia 30, autosomal recessive hereditary sensory neuropathy, or autosomal (de...
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Functional Investigation of TUBB4A Variants Associated with Different Clinical Phenotypes
Dominant TUBB4A variants result in different phenotypes, including hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC), dystonia...
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Ring Chromosome 2
Ring chromosome 2 (RC2) in the context of a karyotype with a modal number of 46 chromosomes is an infrequently documented chromosomal structural...
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Secondary biogenic amine deficiencies: genetic etiology, therapeutic interventions, and clinical effects
Monoamine neurotransmitter disorders present predominantly with neurologic features, including dystonic or dyskinetic cerebral palsy and movement...
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Liquid Biopsy in Adverse Neurodevelopment of Children: Problems and Prospects
Neurodevelopmental disorders in children have an important impact on the quality of life in the whole life cycle. Severe neurodevelopmental disorders...
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Construction of miRNA-mRNA regulatory network indicates potential biomarkers for primary open-angle glaucoma
BackgroundTrabecular meshwork (TM) dysfunction-induced elevation of intraocular pressure has been identified as the main risk factor of irreversible...
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De novo mutations within metabolism networks of amino acid/protein/energy in Chinese autistic children with intellectual disability
BackgroundAutism spectrum disorder (ASD) is often accompanied by intellectual disability (ID). Despite extensive studies, however, the genetic basis...
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Vesicle trafficking and vesicle fusion: mechanisms, biological functions, and their implications for potential disease therapy
Intracellular vesicle trafficking is the fundamental process to maintain the homeostasis of membrane-enclosed organelles in eukaryotic cells. These...
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Alzheimer risk gene product Pyk2 suppresses tau phosphorylation and phenotypic effects of tauopathy
BackgroundGenetic variation at the PTK2B locus encoding the protein Pyk2 influences Alzheimer’s disease risk. Neurons express Pyk2 and the protein...
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Genome-wide CRISPR screen identified Rad18 as a determinant of doxorubicin sensitivity in osteosarcoma
BackgroundOsteosarcoma (OS) is a malignant bone tumor mostly occurring in children and adolescents, while chemotherapy resistance often develops and...
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Proteomic profiling of retina and retinal pigment epithelium combined embryonic tissue to facilitate ocular disease gene discovery
To expedite gene discovery in eye development and its associated defects, we previously developed a bioinformatics resource-tool iSyTE (integrated...
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Integrated analysis of miRNA-mRNA expression of newly emerging swine H3N2 influenza virus cross-species infection with tree shrews
BackgroundCross-species transmission of zoonotic IAVs to humans is potentially widespread and lethal, posing a great threat to human health, and...
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Distal 2q duplication in a patient with intellectual disability
We report on a patient with a distal 16.4-Mb duplication at 2q36.3-qter, who presented with severe intellectual disability, microcephaly,...
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Targeted resequencing identifies genes with recurrent variation in cerebral palsy
A growing body of evidence points to a considerable and heterogeneous genetic aetiology of cerebral palsy (CP). To identify recurrently variant CP...
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Detection of low-level parental somatic mosaicism for clinically relevant SNVs and indels identified in a large exome sequencing dataset
BackgroundDue to the limitations of the current routine diagnostic methods, low-level somatic mosaicism with variant allele fraction (VAF) < 10% is...
