A5036883899- Obsessive-Compulsive Spectrum Disorders
- Genetic Associations and Epidemiology
- Autism Spectrum Disorder Research
- Myasthenia Gravis and Thymoma
- Bioinformatics and Genomic Networks
- Systemic Lupus Erythematosus Research
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Celiac Disease Research and Management
- Alzheimer's disease research and treatments
- Diabetes and associated disorders
- Vector-borne infectious diseases
- Pharmacogenetics and Drug Metabolism
- Pituitary Gland Disorders and Treatments
- Genomics and Rare Diseases
- Parkinson's Disease and Spinal Disorders
- Genetic and phenotypic traits in livestock
- Virology and Viral Diseases
- Williams Syndrome Research
- Trypanosoma species research and implications
- Peripheral Neuropathies and Disorders
- Psychosomatic Disorders and Their Treatments
- Genetic factors in colorectal cancer
- BRCA gene mutations in cancer
Purdue University West Lafayette
2020-2025
Democritus University of Thrace
2016
Abstract Dementia refers to an umbrella phenotype of many different underlying pathologies with Alzheimer’s disease (AD) being the most common type. Neuropathological examination remains gold standard for accurate AD diagnosis, however, that we know about genetics is based on Genome-Wide Association Studies (GWAS) clinically defined AD. Such studies have identified multiple susceptibility variants a significant portion heritability unexplained and highlighting phenotypic genetic...
Gilles de la Tourette Sydrome (TS) is a childhood onset neurodevelopmental disorder, characterized phenotypically by the presence of multiple motor and vocal tics. It often accompanied psychiatric comorbidities, with Attention Deficit/Hyperactivity Disorder (ADHD) among most common. The extensive co-occurrence two disorders suggests shared genetic background. A major step towards elucidation architecture TS was undertaken first Genome-wide Association Study (GWAS) reporting 552 SNPs that...
This is the ninth yearly article in Tourette Syndrome Research Highlights series, summarizing selected research reports from 2022 relevant to syndrome. The authors briefly summarize they consider most important or interesting.
<ns4:p>This is the ninth yearly article in Tourette Syndrome Research Highlights series, summarizing selected research reports from 2022 relevant to syndrome. The authors briefly summarize they consider most important or interesting.</ns4:p>
Tourette syndrome (TS) is characterized by multiple motor and vocal tics, high-comorbidity rates with other neuropsychiatric disorders. Obsessive compulsive disorder (OCD), attention deficit hyperactivity (ADHD), autism spectrum disorders (ASDs), major depressive (MDD), anxiety (AXDs) are among the most prevalent TS comorbidities. To date, studies on brain structure function have been limited in size efforts mostly fragmented. This leads to low-statistical power, discordant results due...
<ns3:p>In this, the tenth annual update for F1000Research Tics collection, we summarize research reports from 2023 on Gilles de la Tourette syndrome and other tic disorders. The authors welcome article suggestions thoughtful feedback readers.</ns3:p>
In this, the tenth annual update for F1000Research Tics collection, we summarize research reports from 2023 on Gilles de la Tourette syndrome and other tic disorders. The authors welcome article suggestions thoughtful feedback readers.
Abstract Tourette Syndrome (TS) is a childhood-onset neurodevelopmental disorder of complex genetic architecture, characterized by multiple motor tics and at least one vocal tic persisting for more than year. We performed genome-wide meta-analysis integrating novel TS cohort with previously published data, resulting in sample size 6,133 individuals 13,565 ancestry-matched controls. identified significant locus on chromosome 5q15 array-wide 2q24.2. Integration eQTL, Hi-C GWAS data implicated...
Abstract Tourette Syndrome (TS) is a complex neurodevelopmental disorder characterized by vocal and motor tics lasting more than year. It highly polygenic in nature with both rare common previously associated variants. Epidemiological studies have shown TS to be correlated other phenotypes, but large-scale phenome wide analyses biobank level data not been performed date. In this study, we used the summary statistics from latest meta-analysis of calculate risk score (PRS) individuals UK...
Abstract Background Myasthenia Gravis (MG) is a rare autoimmune disorder affecting the neuromuscular junction. Here, we investigate genetic architecture of MG performing genomewide association study (GWAS) largest dataset analyzed to date. Methods We integrated GWAS from three different datasets (1,401 cases, 3,508 controls) and performed onset-specific analyses. also carried out HLA fine-mapping, gene-based, gene ontology tissue enrichment analyses investigated correlation other disorders....
Abstract Dementia refers to an umbrella phenotype of many different underlying pathologies with Alzheimer’s disease (AD) being the most common type. While Genome-wide Association Studies (GWAS) clinically defined AD have identified multiple susceptibility variants, a significant portion heritability remains unexplained highlighting phenotypic and genetic heterogeneity entity. Furthermore, despite women’s increased dementia there is lack sex-specific studies understanding background for...
Abstract Autoimmune diseases (ADs) are a group of more than 80 heterogeneous disorders that occur when there is failure in the self-tolerance mechanisms triggering self-attacking autoantibodies. Most autoimmune polygenic and associated with genes human leukocyte antigen (HLA) region. However, additional non-HLA also found to be different ADs, often these implicated one disorder. Previous studies have observed associations between various health-related lifestyle phenotypes ADs. Polygenic...