Human genetic and genomic studies have supported a strong causal role of SHANK3 deficiency in autism spectrum disorder (ASD). However, the molecular mechanism underlying resulting ASD is not fully understood. Recently, zebrafish has become an attractive organism to model because its high efficiency manipulation robust behavioral phenotypes. The orthologous gene human duplicated genome two homologs, shank3a shank3b. Previous reported shank3 morphants using morpholino method. Here, we report...

A recent study (Nusrat, A., Chen, J. Foley, C. S., Liang, T. W., Tom, J., Cromwell, M., Quan, C., and Mrsny, R. (2000) Biol. Chem. 275, 29816-29822) suggested that phosphatidylinositol 3-kinase (PI 3-kinase) may interact with occludin; however, there exists no evidence of direct interaction PI the tight junctions. Activation by oxidative stress its role in disruption junctions was examined Caco-2 cell monolayer. The stress-induced decrease electrical resistance, increase inulin permeability,...

Cloning of macaque monkeys by somatic cell nucleus transfer (SCNT) allows the generation with uniform genetic backgrounds that are useful for development non-human primate models human diseases. Here, we report feasibility this approach SCNT fibroblasts from a monkey (Macaca fascicularis), in which core circadian transcription factor BMAL1 was knocked out clustered regularly interspaced short palindromic repeat/Cas9 gene editing (see accompanying paper). Out 325 embryos transferred into 65...

Mutations in CHD8, chromodomain helicase DNA-binding protein 8, are among the most replicated and common findings genetic studies of autism spectrum disorder (ASD). The CHD8 is believed to act as a transcriptional regulator by remodeling chromatin structure recruiting histone H1 target genes. mechanism which deficiency causes ASD has not been fully elucidated. We examined expression human mouse brains using both immunohistochemistry RNA situ hybridization. performed utero electroporation,...

Genetic alterations, together with environmental risk factors during infancy and childhood, contribute significantly to the etiology of autism spectrum disorder (ASD), a heterogeneous neurodevelopmental condition characterized by impairments in social interaction restricted, repetitive behaviors. Mounting evidence points critical contribution immunological development ASD. By affecting multiple processes, immune system dysfunction could act as point convergence between genetics Previous...

Epileptic seizures are characterized by their sudden and unpredictable nature, posing significant risks to a patient’s daily life. Accurate reliable seizure prediction systems can provide alerts before occurs, as well give the patient caregivers provider enough time take appropriate measure. This study presents an effective method based on deep learning that combine with handcrafted features. The features were selected Max-Relevance Min-Redundancy (mRMR) obtain optimal set of To extract...

The cell adhesion molecule L1-like (CHL1 or CALL) gene is located on chromosome 3p26.3, and it highly expressed in the central peripheral nervous systems. protein encoded by this a member of L1 family neural molecules, plays role system development synaptic plasticity. Moreover, studies mice have revealed that CHL1 prime candidate for dosage-sensitive autosomal form mental retardation. To date, four patients with microdeletion two microduplication 3p26.3 encompassing only been reported...

SHANK3 is a scaffolding protein that binds to various synaptic proteins at the postsynaptic density (PSD) of excitatory glutamatergic synapses. not only strongly implicated in autism spectrum disorders (ASD) but also plays critical role human Phelan-McDermid syndrome (22q13.3 deletion syndrome). Accumulated experimental evidence demonstrates zebrafish model system useful for studying functions ASD-related gene during early development. However, many basic features shank3 transcript...

Abstract Salt bladders, specialized structures on the surface of quinoa leaves, secrete Na + to mitigate effects plant from abiotic stresses, particularly salt exposure. Understanding development these is crucial for elucidating ’s tolerance mechanisms. In this study, we employed transmission electron microscopy detail cellular differentiation across developmental stages bladders. To further explore trajectory and underlying molecular mechanisms, conducted single-cell RNA sequencing...

Verheij syndrome is a rare microdeletion of chromosome 8q24.3 that harbors PUF60, SCRIB, and NRBP2 genes. Subsequently, loss function mutations in PUF60 have been found children with clinical features significantly overlapping Verheij. Here we present the first Chinese Han patient de novo nonsense variant (c.1357C > T, p.Gln453*) by whole exome sequencing. The 5-year-old boy presents dysmorphic facial features, intellectual disability, growth retardation but without apparent cardiac, renal,...

Most children with autism spectrum disorder (ASD) are not diagnosed until the age of 4, thus missing opportunity for early intervention. The objective this study was to investigate feasibility an screening program ASD applied during well‐child visits in a community‐based sample. lasted 4 years and divided into two stages. Stage I involved implementation basic model 2014. Toddlers received level 1 via section A Chinese‐validated version Checklist Autism (CHAT‐23) 18‐ 24‐month Xuhui District,...

SHANK3 deficiency represents one of the most replicated monogenic risk factors for autism spectrum disorder (ASD) and caused ASD presents a unique opportunity to understand underlying neuropathological mechanisms ASD. In this study, genetic tests, comprehensive clinical neurobehavioral evaluations, as well multimodal structural MRI using voxel-based morphometry (VBM) tract-based spatial statistics (TBSS) were conducted in group (N = 14 with defects), controls 26 idiopathic without defects)...

Objectives: Autism spectrum disorder (ASD) is a neurodevelopmental with genetic and clinical heterogeneity. Owing to the advancement of sequencing technologies, an increasing number ASD-related genes have been reported. We designed targeted panel (TSP) for ASD based on next-generation (NGS) provide strategies testing its subgroups. Methods: TSP comprised 568 analyzed both single nucleotide variations (SNVs) copy (CNVs). The Diagnostic Observation Schedule (ADOS) Griffiths Mental Development...

Abstract Objectives Olfactory function, serum tumor necrosis factor-α (TNF-α) and cognitive function were compared between bipolar disorder (BD) schizophrenia (SP) patients in the remission stage combined with correlation analysis, aim of identifying new indicators for auxiliary diagnosis these psychiatric illnesses. Methods A total 46 euthymic BD patients, 42 clinically stable SP healthy controls (HC) included this study. sensitivity (OS) olfactory identification (OI) assessed using...

Autism spectrum disorder (ASD) is a neurodevelopmental in which genetics plays key aetiological role. The gene encoding NAD(P)H steroid dehydrogenase-like protein (NSDHL) expressed developing cortical neurons and glia, its mutation may result intellectual disability or congenital hemidysplasia. An 8-year-old boy presented with 260-kb NSDHL-containing duplication at Xq28 (151,868,909 – 152,129,300) inherited from his mother. His clinical features included defects social communication...

Autism spectrum disorder (ASD) is a neurodevelopmental featured by communication and social interaction deficits, limited interest, stereotyped behavior, with no biological treatment currently available yet. However, new high-intensity behavioral therapy can significantly improve the cognitive, linguistic, adaptive abilities of ASD children. be diagnosed reliably at age 2 years, but average diagnosis 4.5 which causes numerous children to lose golden period early intervention. Therefore,...

Abstract The efficiency of homology-directed repair (HDR) plays a crucial role in the development animal models and gene therapy. We demonstrate that microhomology-mediated end-joining (MMEJ) constitutes substantial proportion DNA during CRISPR-mediated editing. Using CasRx to downregulate key MMEJ factor, Polymerase Q ( Polq ), we improve targeted integration linearized fragments single-strand oligonucleotides (ssODN) mouse embryos offspring. CasRX-assisted (CATI) also leads improvements...

Intelligent household appliance sound event detection and classification is an evolving research field for intelligent diagnosis evaluation of appliances. In this paper, we identified three major barriers to in area---the lack a common taxonomy, the scarcity negative samples, low signal-to-noise ratio appliances' signals. order solve these problems, proposed fault or abnormal new dataset appliances (HAASD), which divided into two categories: normal sound. Each category has more than one...

Introduction Research has indicated that individuals diagnosed with bipolar disorder (BD) might experience alterations in their olfaction or levels of serum tumor necrosis factor-α (TNF-α), but no studies have investigated olfactory function and TNF-α BD patients simultaneously. Moreover, there is a lack existing research compares the longitudinal between manic euthymic I. Methods Patients I (BDM, n=44) healthy controls (HCs, n=32) were evaluated symptoms (measured via Young Manic Rating...

e13640 Background: The Making Advances in Mammography and Medical Options for Veterans Act of 2022 mandated that the Department Affairs (VA) perform a study germline genetic testing with breast cancer (BC). Assessing whether Veteran BC was offered based on electronic health records requires time-consuming review unstructured clinical notes by experts who are also extremely busy providing care. To expedite this process, we implemented productionized natural language processing (NLP) pipeline...

e13531 Background: The Department of Veterans Affairs (VA) has seen a 3-fold increase in breast cancer (BC) diagnoses recent decades, 90% which occur women Veterans. While technological and biomedical advances have increased the availability actionability germline genetic testing (GGT), adoption practice been slow. VA National Oncology Program (NOP) recommends that all with BC be offered GGT. Making Advances Mammography Medical Options for Act 2022 mandated perform study GGT BC, initial...