PhenoMetaboDiff: R Package for Analysis and Visualization of Phenotype Microarray Data

Genes, Journal Year: 2024, Volume and Issue: 15(11), P. 1362 - 1362

Published: Oct. 24, 2024

PhenoMetaboDiff is a novel R package for computational analysis and visualization of data generated by Biolog Phenotype Mammalian Microarrays (PM-Ms). These arrays measure the energy production mammalian cells in different metabolic environments, assess activity exposed to various drugs or sources, compare profiles from individuals affected specific disorders versus healthy controls.

Language: Английский

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Le neurodéveloppement et la neuroprotection du jeune enfant

Gynécologie Obstétrique Fertilité & Sénologie , Journal Year: 2024, Volume and Issue: 52(7-8), P. 481 - 489

Published: March 16, 2024

Language: Английский

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Immune alterations in children with autism spectrum disorders

Russian Journal of Immunology, Journal Year: 2024, Volume and Issue: 27(4), P. 819 - 824

Published: Oct. 25, 2024

Autism spectrum disorders (ASD) are a heterogeneous group of mental and nervous system disorders. Patients with ASD characterized by communication cognitive impairments obsessive behavior. The pathogenesis etiology still unclear. According to the literature, patients suffering from have not only mental, but also somatic disorders, including changes in immune system. aim this work was study concentration cytokines blood plasma children level expression proinflammatory genes peripheral mononuclear cells. clinical included 71 aged 4-12 years diagnosis (F84.02). scored more than 36 on Childhood Rating Scale (CARS). control sample 27 apparently healthy same age. following methods were used study: isolation cells heparinized blood, Ficoll-Verografin density gradient centrifugation, evaluation cytokine blocks using commercially available enzyme immunoassay kits, random total RNA, reverse transcription hexaprimers, real-time polymerase chain reaction intercalating dye SYBR Green. IL-1β, IL-8, IL-17A statistically significantly increased compared sample. Moreover, anti-inflammatory IL-10 3.6 times lower (p 0.001). NF-κB1, IL1β, IL8 TNFα at RNA 2.8, 2.5, 4.8 4.2 (all p 0.01). results obtained indicate an increase (IL-1β, IL-17A) decrease (IL-10) sequence.

Language: Английский

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Potentially damaging variants’ analysis in autism subgroups uncovers early brain-expressed gene modules relevant to autism pathophysiology

Research Square (Research Square), Journal Year: 2024, Volume and Issue: unknown

Published: Dec. 3, 2024

Background Understanding the functional implications of genes’ variants related to autism heterogeneity represents a crucial challenge. Gene set analysis examines combined effect multiple genes with convergent biological functions. Here we explored whether multi-step could identify gene sets relevant subtyping in terms different loads possibly damaging (PDVs) among two subgroups autistic children. Methods After subdividing our sample 71 children (3-12 years) higher (>80; n=43) and lower (≤80; n=28) intelligence quotient (IQ), variant enrichment identified significantly incidence PDVs between subgroups. Significant were then clustered into modules genes. Their brain expression was investigated according BrainSpan Atlas Developing Human Brain. Next, extended each module by selecting that spatio-temporally co-expressed developing physically interacting those modules. Last, susceptibility within original Results Our 38 significant (FDR, q<0.05), which four involved ion cell communication, neurocognition, gastrointestinal function, immune system. Those highly expressed specific structures across developmental stages. Spatio-temporal co-expression development physical protein interactions clusters where found an over-representation Limitations The size this work is limited. also limited disease-associated subsection exome. Conclusions unbiased approach functionally pathophysiology relatively small participants, providing evidence their implication phenotypic differences findings interconnections suggest diversity likely originates from pathways. Future research leverage present genetic pathways subtyping.

Language: Английский

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Fatty acid metabolites; esophagitis; auditory processing

The Transmitter, Journal Year: 2023, Volume and Issue: unknown

Published: Jan. 1, 2023

Autistic adults have higher blood levels of fatty-acid metabolites, on average, than nonautistic adults.Autism Research Many autism-linked genes encode immune-system proteins that contribute

Language: Английский

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