Mutations of the SHANK3 gene have been associated with autism spectrum disorder. Individuals harboring different SHANK3 mutations display considerable heterogeneity in their cognitive impairment, likely due to the high SHANK3 transcriptional diversi...
SHANK3 encodes a scaffold protein involved in postsynaptic receptor density in glutamatergic synapses, including those in the parvalbumin (PV)+ inhibitory neurons—the key players in the generation of sensory gamma oscillations, such as 40-Hz auditory...
Autism spectrum disorders (ASDs) are characterized by repetitive behaviors and impairments of sociability and communication. About 1% of ASD cases are caused by mutations of SHANK3, a major scaffolding protein of the postsynaptic density. We studied...
Autism spectrum disorders (ASD) are a group of neurodevelopmental disorders characterized by deficits in social interaction and communication, and repetitive behaviors. In addition, co-morbidities such as gastro-intestinal problems have frequently be...
Specific interactions between scaffold protein SH3 and multiple ankyrin repeat domains protein 3 (Shank3) and synapse-associated protein 90/postsynaptic density-95–associated protein (SAPAP) are essential for excitatory synapse development and...
Increased medical attention is needed as the prevalence of autism spectrum disorder (ASD) rises. Both cardiovascular disorder (CVD) and hyperlipidemia are closely associated with adult ASD. Shank3 plays a key genetic role in ASD. We hypothesized that...
Objectives: This study aimed to investigate the regulatory impact of early swimming intervention on striatal metabolism in Shank3 gene knockout ASD model rats. Methods: Shank3 gene knockout exon 11–21 male 8-day-old SD rats were used as ex...
Background: Dysfunction of the SHANK3 gene has been linked to several neuropsychiatric and neurodevelopmental disorders, such as attention deficit/hyperactivity disorder (ADHD), autism spectrum disorder, and epilepsy. SHANK3 haploinsufficiency is the...
We present a family case study of Phelan–McDermid syndrome (PMS), a neurodevelopmental disorder caused by haploinsufficiency of the SHANK3 gene, in which two of three siblings were clinically diagnosed with PMS. Sanger sequencing identified a n...
Phelan–McDermid syndrome (PMS; #MIM: 606232) is a rare neurodevelopmental disorder primarily caused by the haploinsufficiency of the SHANK3 gene, most often due to deletions encompassing the gene or single nucleotide variants within it. Individ...
Background: Shank3 knockout (KO) mice recapitulate core autism spectrum disorder (ASD)-like behaviors and are widely regarded as a reliable model for autism. Although dysfunction of GABAergic neurons is closely associated with ASD-like phenotypes, it...
The increasing incidence of autism spectrum disorder (ASD) increases the urgency of establishing the mechanism of its development for effective prevention and treatment. ASD’s etiology includes genetic predisposition and environmental triggers,...
The fan blade shank serves as a critical transition structure connecting the airfoil and dovetail, with its geometric design significantly influencing the blade’s structural integrity. This study investigates the geometric configuration and sta...
30 September 2022
SH3 and multiple ankyrin repeat domains (SHANK) is a family of scaffold proteins that were first identified to be involved in balancing synaptic transmission via regulation of intracellular signalling crosstalk and have been linked to various cancers...
Genetic defects in the SHANK2 gene, encoding for synaptic scaffolding protein, are associated with a variety of neurodevelopmental conditions, including autism spectrum disorders and mild to moderate intellectual disability. Until now, limited patien...
22 August 2021
This preliminary study examined the effects of a stretching intervention after training and its duration (15 vs. 30 min) on participants’ shank circumference (SC) reduction and subjective discomfort score. Ten male volleyball players underwent a rout...
In maize, the ear shank is a short branch that connects the ear to the stalk. The length of the ear shank mainly affects the transportation of photosynthetic products to the ear, and also influences the dehydration of the grain by adjusting the tight...
One parameter that may affect the performance of a ground source heat pump is the shank-space, the center-to-center distance between the two branches of a vertical U-tube used in a ground heat exchanger. A 3D steady-state computational fluid dynamics...
Hyper-reactivity to sensory inputs is a common and debilitating symptom of autism spectrum disorder (ASD), but the underlying neural abnormalities remain unclear. Two of three patients in our clinical cohort screen harboring de novo SHANK2 mutations...
The barbell back squat, a prevalent lower-limb resistance exercise characterized by a closed kinetic chain and multi-joint movement, results in the greatest knee joint range of motion. Variations in thigh and shank lengths and their ratios may influe...
Black shank caused by Phytophthora nicotianae has become a destructive soil-borne disease to different flue-cured tobacco cultivars in Southwest China. The use of biochar amendments for microorganism synergy is a promising effective strategy for P. n...
The influence of the mounting position of a magnetic-inertial measurement unit (MIMU) on the accuracy of posture estimation for a shank has not been extensively studied and remains unknown. In this study, we conducted comparative experiments using th...
Although autism spectrum disorder (ASD) is mainly characterized by developmental delay in social and communication skills, it has been shown that neuromotor deficits are an early component of ASD. The neuromotor development of B6.129-Shank3tm2Gfng/J...
Ear shank length (ESL) has significant effects on grain yield and kernel dehydration rate in maize. Herein, linkage mapping and genome-wide association study were combined to reveal the genetic architecture of maize ESL. Sixteen quantitative trait lo...
Background: The Dong Tao (DT) chicken is a traditional Vietnamese breed characterized by extremely enlarged shanks, representing one of the most distinctive morphological traits observed in domestic chickens. Despite its economic and cultural importa...
The vascular bundle of the shank is an important ‘flow’ organ for transforming maize biological yield to grain yield, and its microscopic phenotypic characteristics and genetic analysis are of great significance for promoting the breeding...
The autism spectrum disorder-associated SCN2A, ANK2, and SHANK-family genes encode molecularly distinct proteins that converge functionally on dendritic integration. Recent work established that ankyrin-B, encoded by ANK2, acts as an obligate dendrit...
The present study investigated the effects of methionine (Met) on growth, immune function, and antioxidant capacity in partridge shank broilers, which were treated with either an anticoccidial drug or a coccidia vaccine. Chickens were fed five graded...
In this paper we propose an approach for the estimation of the slope of the walking surface during normal walking using a body-worn sensor composed of a biaxial accelerometer and a uniaxial gyroscope attached to the shank. It builds upon a state of t...
Vibration measured at the cultivator shank is a rich but underutilized source of information about soil–tool interaction, which we propose can be read as a language of the implement’s engagement with the soil. As a first step of understan...
8 August 2020
This study recruited nine young women who performed a leg raising exercise under six test combinations of three holding postures (lying supine, placing the shanks on a yoga ball, and elevating the legs at 60° against the wall) and two time arrang...
Low-disturbance liquid manure injection is increasingly important for sustainable soil management because it reduces residue burial, minimizes surface disruption, and lowers energy demand during application. However, the performance of low-disturbanc...
Mannanoligosaccharides (MOS) can be used in poultry production to modulate immunity and improve growth performance. So, we hypothesized that our enzymatic MOS could achieve the same effects in broilers. To investigate this, a total of 192 one-day-old...
The transition from a stationary crouch on running-blocks to an erect running position is critical to success in sprint running. Three elite sprinters repeated five sprint starts on a 50 m-long instrumented running track each wearing three inertial m...
Black shank, a devastating disease affecting tobacco production worldwide, is caused by Phytophthora nicotianae. However, few genes related to Phytophthora resistance have been reported in tobacco. Here, we identified NpPP2-B10, a gene strongly induc...
(1) Background: This study aimed to investigate the changes in core temperature of Cyan-shank partridge chickens with continuously increased ambient temperature at different relative humidity (RH) levels. (2) Methods: Thirty birds were selected at th...
Accurate evaluation of the shank-to-vertical angle (SVA) is important for optimizing lower-limb alignment during gait, particularly during ankle–foot orthosis (AFO) tuning. This study investigated the validity of a wearable posture sensor for c...
Compression stockings (CSs) are a relatively simple and effective tool for alleviating varicose veins and are often used as a preventive measure among workers whose jobs require prolonged standing. Nevertheless, the efficacy of CSs that are advertise...
Microelectrode arrays (MEAs) enable the recording of electrical activity from cortical neurons which has implications for basic neuroscience and neuroprosthetic applications. The design space for MEA technology is extremely wide where devices may var...
Autism spectrum disorder (ASD) is a neurodevelopmental disorder manifested in repetitive behavior, abnormalities in social interactions, and communication. The pathogenesis of this disorder is not clear, and no effective treatment is currently availa...
Phelan–McDermid syndrome (PMS) is a rare, heterogeneous, and complex neurodevelopmental disorder. It is generally caused by a heterozygous microdeletion of contiguous genes located in the distal portion of the long arm of chromosome 22, includi...
Given that the issue of variations in geometrical parameters of the borehole heat exchanger (BHE) revolves around the phenomenon of thermal resistance, a thorough understanding of these parameters is beneficial in enhancing thermal performance of BHE...
Sleep abnormalities are common in patients with neurodevelopmental disorders, and it is thought that deficits in sleep may contribute to the unfolding of symptoms in these disorders. Appreciating sleep abnormalities in neurodevelopmental disorders co...
Objectives: To characterize the clinical and genetic features of Phelan–McDermid syndrome (PMS) in a Chinese prenatal and postnatal cohort, explore genotype–phenotype correlations, and provide evidence to support prenatal genetic counseli...
In this paper, a comprehensive analysis of the combined effect of major influencing parameters on heat transfer in a single U-tube BHE (sBHE) and a double U-tube BHE (dBHE) with two independent circuits was performed by using a validated numerical he...
Autism spectrum disorder (ASD) is a multifactorial neurodevelopmental disorder (NDD) characterized by impaired social communication and repetitive behavior, among other symptoms. ASD is highly heritable, with SHANK3 being one of the high-risk genes f...
Background/Objectives: Phelan–McDermid syndrome (PMS), caused by either chromosome 22q13.3 deletions or pathogenic/likely pathogenic variants in the SHANK3 gene, is a rare neurodevelopmental disorder. Behavioral issues greatly impair the qualit...
Phelan McDermid syndrome (PMcD) is a neurogenetic disease associated with haploinsufficiency of the SHANK3 gene due to a spectrum of anomalies in the terminal region of the long arm of chromosome 22. SHANK3 is the abbreviation for SH3 domain and anky...
Non-destructive testing of the cracks on the in-service bolt’s shank with size M18 is a challenging technical problem. Due to the weak echo energy of cracks with large buried depths, the conventional phased array ultrasonic sector scan imaging...
Phelan-McDermid syndrome (PMS) is a genetic disorder often characterized by autism or autistic-like behavior. Most cases are associated with haploinsufficiency of the SHANK3 gene resulting from deletion of the gene at 22q13.3 or from a pathogenic var...
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