Academic Articles & Research Papers

Association of SLC6A3 variants with treatment-resistant schizophrenia: a genetic association study of dopamine-related genes in schizophrenia

BackgroundMost genetic analyses that have attempted to identify a locus or loci that can distinguish patients with treatment-resistant schizophrenia (TRS) from those who respond to treatment (non-TRS) have failed. However, evidence from mul...

Red Blood Cells as Potential Repositories of MicroRNAs in the Circulatory System

The amount of erythrocyte-derived microRNAs (miRNAs) represents the majority of miRNAs expressed in whole blood. miR-451, miR-144, and miR-486, which are abundant in red blood cells (RBCs), are involved in the process of erythropoiesis and ...

Conjunctival lymphangioma in a 4-year-old girl revealed tuberous sclerosis complex

Background: To present a case of conjunctival lymphangioma in a girl with tuberous sclerosis complex.Methods/results: A 4-year-old girl presented with a relapsing cystic lesion of the bulbar conjunctiva in the right eye with string-of-pear...

Induced Local and Systemic Defense Responses in Tomato Underlying Interactions Between the Root-Knot Nematode Meloidogyne incognita and the Potato Aphid Macrosiphum euphorbiae

Plants mediate interactions between different herbivores that attack simultaneously or sequentially aboveground (AG) and belowground (BG) organs. The local and systemic activation of hormonal signaling pathways and the concomitant accumulat...

High-quality read-based phasing of cystic fibrosis cohort informs genetic understanding of disease modification

Summary: Phasing of heterozygous alleles is critical for interpretation of cis-effects of disease-relevant variation. We sequenced 477 individuals with cystic fibrosis (CF) using linked-read sequencing, which display an average phase block ...

Features of the electrolyte distribution in various tissues in miniature pigs

Striking similarities between human and miniature pig anatomy and physiology of the cardiovascular system, skin and digestive organs have made miniature pigs a successful animal model for addressing problems of xenotransplantation. However,...

Emodin inhibits Newcastle disease virus replication via regulating the phosphorylation levels of eEF2K/eEF2 and targeting viral N protein to reduce viral protein production

Newcastle disease (ND) caused by Newcastle disease virus (NDV) infection is a highly contagious avian disease that causes substantial threat to the global poultry industry. Emodin (EMO), a member of the free anthraquinone compounds derived ...

Divergent biological consequences of APOE isoforms across industrialized and non-industrial environments.

The apolipoprotein ε4 (APOE ε4) isoform directly alters cholesterol and immune biology and is associated with an increased risk of neurodegenerative and cardiometabolic disease in industrialized settings; nevertheless, APOE ε4-which is ance...

Genetic diversity in pointed gourd (Trichosanthes dioica) genotypes for fruit yield and quality traits under eastern plateau and hill region

The experiment was conducted during summer seasons of 2021–22 and 2022–2023 at ICAR-Research Complex for Eastern Region, Farming System Research Centre for Hill and Plateau Region, Plandu, Ranchi, Jharkhand focused on assessing the genetic ...

De novo SCN1A missense variant in a patient with Parkinson’s disease

BackgroundVariants in a gene encoding sodium voltage-gated channel alpha subunit 1 (SCN1A) are known to cause a broad clinical spectrum of epilepsy and associated features, including Dravet syndrome (MIM 607208), non-Dravet developmental an...

Near infrared spectroscopy predicts crude protein concentration in hemp grain

Abstract This study evaluated near‐infrared spectroscopy (NIRS) for nondestructive crude protein (CP) prediction in hemp (Cannabis sativa L.) grain and validated the biological basis of spectral predictions. Note that 149 whole grain sample...

miRNA-mediated loss of m6A increases nascent translation in glioblastoma.

Within the glioblastoma cellular niche, glioma stem cells (GSCs) can give rise to differentiated glioma cells (DGCs) and, when necessary, DGCs can reciprocally give rise to GSCs to maintain the cellular equilibrium necessary for optimal tum...

Knockdown of menin affects pre-mRNA processing and promoter fidelity at the interferon-gamma inducible <it>IRF1 </it>gene

Abstract Background The tumor suppressor menin (MEN1) is mutated in the inherited disease multiple endocrine neoplasia type I, and has several documented cellular roles, including the activation and repression of transcription effected by s...

HBA-DEALS: accurate and simultaneous identification of differential expression and splicing using hierarchical Bayesian analysis

Abstract We present Hierarchical Bayesian Analysis of Differential Expression and ALternative Splicing (HBA-DEALS), which simultaneously characterizes differential expression and splicing in cohorts. HBA-DEALS attains state of the art or be...

SUMO E3 ligase Mms21 prevents spontaneous DNA damage induced genome rearrangements.

Mms21, a subunit of the Smc5/6 complex, possesses an E3 ligase activity for the Small Ubiquitin-like MOdifier (SUMO). Here we show that the mms21-CH mutation, which inactivates Mms21 ligase activity, causes increased accumulation of gross c...

ESTIMATING THE GENETIC PARAMETERS OF YIELD AND YIELD COMPONENT TRAITS IN SQUASH (Cucurbita pepo, L.)

The main objective of this investigation was to determine the genetic parameters, heritability in both broad and narrow senses, combining abilities and correlation foryield and yield component traitsin squash (Cucurbita pepo, L.). For this ...

Genetic impact of non-consanguineous marriages in Saudi Arabia.

Background: Physicians and geneticists face challenges in making accurate diagnoses during clinical evaluations; affecting patients and clinicians. The aim of this study was to estimate the hit rate of the non-consanguineous population. Mor...

Assessing Phase-Locked Repetitive Transcranial Magnetic Stimulation for Treatment of Parkinson’s and Essential Tremor

Cracking rare disorders: a new minimally invasive RNA-seq protocol

Abstract RNA sequencing (RNA-seq) has become key to complementing exome and genome sequencing for variant interpretation. We present a minimally invasive RNA-seq protocol using short-term cultured peripheral blood mononuclear cells (PBMCs) ...

BRI1 EMS SUPPRESSOR1 genes regulate abiotic stress and anther development in wheat (Triticum aestivum L.)

BRI1 EMS SUPPRESSOR1 (BES1) family members are crucial downstream regulators that positively mediate brassinosteroid signaling, playing vital roles in the regulation of plant stress responses and anther development in Arabidopsis. Important...