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Suggested Topics within your search.
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241
Pituitary adenylate cyclase-activating polypeptide plays a role in neuropsychiatric and substance use disorders: sex-specific perspective
Published 2025-02-01“…The neuropeptide pituitary adenylate cyclase-activating peptide (PACAP) plays a pivotal role in regulating stress, fear, and anxiety responses. Genetic and molecular studies investigating PACAP demonstrate sex-dimorphic characteristics, with females exhibiting increased reactivity of PACAP signaling in neuropsychiatric disorders. …”
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242
Severe Combined Immunodeficiency Disorder due to a Novel Mutation in Recombination Activation Gene 2: About 2 Cases
Published 2021-01-01“…Severe combined immunodeficiency (SCID) comprises a heterogeneous group of inherited immunologic disorders with profound defects in cellular and humoral immunity. …”
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243
An evaluation of practices and policies used in genetics clinics across the United States to manage referrals for Ehlers-Danlos and hypermobility syndromes
Published 2025-01-01“…Purpose: Hypermobile Ehlers-Danlos syndrome (hEDS) and joint hypermobility syndrome (JHS), among other conditions, comprise a collection of heritable disorders of connective tissue. There are recognized challenges in diagnosing JHS/hEDS. …”
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Genetic Variants Flanking the FGF21 Gene Were Associated with Renal Function in Chinese Patients with Type 2 Diabetes
Published 2019-01-01“…However, the relationship between genetic variants in the FGF21 gene region and DKD remains unknown. …”
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246
A Review of Mendelian Randomization: Assumptions, Methods, and Application to Obesity-Related Diseases
Published 2025-01-01“…Mendelian randomization (MR) is a statistical method that uses genetic variants as instrumental variables to estimate the causal effect of exposure on an outcome in the presence of unmeasured confounding. …”
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247
What is the relationship between exposure to environmental pollutants and severe mental disorders? A systematic review on shared biological pathways
Published 2025-02-01“…Severe mental disorders are multi-dimensional constructs, resulting from the interaction of genetic, biological, psychosocial, and environmental factors. …”
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248
EGCG improve meat quality, restore lipid metabolism disorder and regulate intestinal flora in high-fat fed broilers
Published 2025-03-01“…Excessive oil addition can easily result in decreased disease resistance in broilers, a drop in meat quality, and disorders of glucose and lipid metabolism. Epigallocatechin gallate (EGCG) is an important bioactive component of tea and has been shown to have promising effects on the metabolism of nutrients. …”
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249
Using multiomic integration to improve blood biomarkers of major depressive disorder: a case-control studyResearch in context
Published 2025-03-01“…Summary: Background: Major depressive disorder (MDD) is a leading cause of disability, with a twofold increase in prevalence in women compared to men. …”
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250
A Case of Congenital Nephrotic Syndrome with Crescents Caused by a Novel Compound Heterozygous Pairing of NPHS1 Genetic Variants
Published 2024-01-01“…Congenital nephrotic syndrome is an autosomal recessive inherited disorder that manifests as steroid-resistant massive proteinuria in the first three months of life. …”
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251
Eating Problems and Overlap with ADHD and Autism Spectrum Disorders in a Nationwide Twin Study of 9- and 12-Year-Old Children
Published 2013-01-01“…To establish the prevalence of restrictive eating problems, the overlap and association with attention-deficit/hyperactivity disorder (ADHD), and autism spectrum disorders (ASD) and to estimate the heritability of eating problems in a general population sample of twins aged 9 and 12. …”
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252
Genome data based deep learning identified new genes predicting pharmacological treatment response of attention deficit hyperactivity disorder
Published 2025-02-01“…Abstract Although the efficacy of pharmacy in the treatment of attention deficit/hyperactivity disorder (ADHD) has been well established, the lack of predictors of treatment response poses great challenges for personalized treatment. …”
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253
Genetic Associations Between Specific Sleep-Related Phenotypes and Idiopathic Sudden Sensorineural Hearing Loss: A Mendelian Randomization Analysis
Published 2025-02-01“…There were no evidence indicating a potential causal effect of insomnia, sleep duration, sleep disorders, sleep apnoea, and on the risk of ISSHNL. …”
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Vitamin D Receptor Genetic Variations May Associate with the Risk of Developing Late Fracture-Related Infection in the Chinese Han Population
Published 2022-01-01“…This study investigated associations between genetic variations in the VDR and susceptibility to late FRI in the Chinese Han population. …”
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256
SARS-CoV-2 excretion and genetic evolution in nasopharyngeal and stool samples from primary immunodeficiency and immunocompetent pediatric patients
Published 2025-01-01“…Abstract Background Primary Immunodeficiency disorders (PID) can increase the risk of severe COVID-19 and prolonged infection. …”
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Prediction of Causative Genes in Inherited Retinal Disorders from Spectral-Domain Optical Coherence Tomography Utilizing Deep Learning Techniques
Published 2019-01-01“…To illustrate a data-driven deep learning approach to predicting the gene responsible for the inherited retinal disorder (IRD) in macular dystrophy caused by ABCA4 and RP1L1 gene aberration in comparison with retinitis pigmentosa caused by EYS gene aberration and normal subjects. …”
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259
Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder
Published 2024-04-01“…Autism, epilepsy, movement disorders, sleep disturbances, and various psychiatric behaviors constituted the core of the disorder’s clinical phenotype. …”
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