A5066915234- Restless Legs Syndrome Research
- Parkinson's Disease Mechanisms and Treatments
- Genetic Associations and Epidemiology
- Genetics and Neurodevelopmental Disorders
- Dysphagia Assessment and Management
- Child Nutrition and Feeding Issues
- Peroxisome Proliferator-Activated Receptors
- Tryptophan and brain disorders
- Congenital heart defects research
- Genetic Neurodegenerative Diseases
- Substance Abuse Treatment and Outcomes
- Bipolar Disorder and Treatment
- Autism Spectrum Disorder Research
- Alcohol Consumption and Health Effects
- Bioinformatics and Genomic Networks
- Immune Cell Function and Interaction
- Cardiac electrophysiology and arrhythmias
- Sleep and Wakefulness Research
- Amyotrophic Lateral Sclerosis Research
- Peptidase Inhibition and Analysis
- Team Dynamics and Performance
- Cognitive Abilities and Testing
- Genomic variations and chromosomal abnormalities
- Alzheimer's disease research and treatments
- Nerve injury and regeneration
St Petersburg University
2015-2023
Research Medical Center
2020
Mental Health Research Institute
2020
Tomsk National Research Medical Center
2020
National Research Tomsk State University
2020
Tomsk Polytechnic University
2020
Siberian State Medical University
2020
Russian Academy of Sciences
2020
Bogomolets National Medical University
2018
Université de Montréal
2006-2010
The authors investigated genetic factors contributing to restless legs syndrome (RLS) by performing a 10-cM genome-wide scan in large French-Canadian pedigree. They detected an autosomal-dominant locus mapping chromosome 20p13, with maximum multipoint lod score of 3.86 at marker D20S849. This is the third reported for RLS and first population.
Restless legs syndrome (RLS) is a common neurological disorder characterized by an irresistible urge to move the at night, which often accompanied unpleasant sensations. A recent genomewide association study identified between RLS and intronic markers from MEIS1 gene. Comparative genomic analysis indicates that only gene encompassed in this evolutionarily conserved chromosomal segment, i.e. conservation synteny block, mammals fish. We carried out series of experiments delineate role...
<h3>Objectives</h3> To fully ascertain the familial aggregation of restless legs syndrome (RLS) and to characterize clinical features RLS (fRLS) cases. <h3>Design</h3> A case series survey with a high response rate. <h3>Setting</h3> Academic research center. <h3>Participants</h3> Consecutive probands (n = 249) were followed up in specialized sleep center for 15 years. total 671 cases fRLS met current standard diagnostic criteria, including 192 characterized using multidimensional assessments...
Abstract A new restless legs syndrome locus on chromosome 14 recently has been reported in one family of Italian origin. Our study aimed to replicate this finding and determine the importance French Canadian population. Markers spanning region were genotyped large families linkage assessed using two‐point multipoint logarithm odds scores. Possible was found our kindreds providing support for existence indicating that may be responsible a small fraction syndrome. Ann Neurol 2004;55:887–891
Restless legs syndrome (RLS) is a common sensorimotor disorder1 where familial aggregation strongly suggests an important genetic component. However, the underlying structure remains largely unknown. Due to its recent acceptance as clinical entity and development of standard diagnostic criteria reliable assessment instruments,1 few incomplete RLS twin studies have been published.2,3 ### Methods. A validated 36-item questionnaire, used for our family RLS4 reformatted be self-administered,...
Abstract We describe an autosomal‐dominant locus for Restless Legs Syndrome (RLS) in a French‐Canadian (FC) pedigree. Genome‐wide microsatellite scan and linkage analysis were used this study. The maps to chromosome 16p12.1 spans 1.18 Mega bases. maximum multipoint LOD scores are of 3.5 over the total 10 markers. Evidence same was also found smaller FC pedigree sime095. sequence 8 annotated genes within region did not reveal any pathogenic mutations. Copy number variation karyotype analyses...
<h3>Objective</h3> To test the association between Tourette syndrome (TS) and genetic variants in genomic loci<i>MEIS1</i>,<i>MAP2K5/LBXCOR1</i>, and<i>BTBD9</i>, for which genome-wide studies restless legs periodic limb movements during sleep revealed common risk variants. <h3>Design</h3> Case-control study. <h3>Setting</h3> Movement disorder clinic Montreal. <h3>Subjects</h3> We typed 14 single-nucleotide polymorphisms spanning 3 loci 298 TS trios, 322 cases (including probands from cohort...
Imagination, the driving force of creativity, and primary psychosis are human-specific, since we do not observe behaviors in other species that would convincingly suggest they possess same traits. Both these traits have been linked to function prefrontal cortex, which is most evolutionarily novel region human brain. A number genetic epigenetic changes determine brain-specific structure discovered recent years. Among them genomic loci subjected increased rates single nucleotide substitutions...
GSK3B, BDNF, NGF, NRG1, HTR2C, and PIP4K2A play important roles in molecular mechanisms of psychiatric disorders. GSK3B occupies a central position these is also modulated by psychotropic drugs. BDNF regulates number key aspects neurodevelopment synaptic plasticity. NGF exerts trophic action implicated cerebral alterations associated with NRG1 active neural development, plasticity, neurotransmission. HTR2C another psychopharmacological target. catalyzes the phosphorylation PI5P to form PIP2,...
Abstract Converging evidence from clinical observations, brain imaging and pathological findings strongly indicate impaired iron regulation in restless legs syndrome (RLS). Animal models with mutation ( DMT1 ) divalent metal transporter 1 gene, an important transporter, demonstrate a similar deficiency profile as found RLS brain. The human mapped to chromosome 12q near the RLS1 locus, qualifies excellent functional possible positional candidate for RLS. protein levels were assessed...
Abstract We provide an overview of the recent achievements in psychiatric genetics research Russian Federation and present genotype-phenotype, population, epigenetic, cytogenetic, functional, ENIGMA, pharmacogenetic studies, with emphasis on genome-wide association studies. The genetic backgrounds mental illnesses polyethnic multicultural population are still understudied. Furthermore, genetic, genomic, data from not adequately represented international scientific literature, currently...
At least 50% of factors predisposing to alcohol dependence (AD) are genetic and women affected with this disorder present more psychiatric comorbidities, probably indicating different involved. We aimed run a genome-wide association study (GWAS) followed by bioinformatic functional annotation associated genomic regions in patients AD eight related clinical measures. A significant rs220677 (p-value = 1.33 × 10−8 calculated the Yates-corrected χ2 test under assumption dominant inheritance) was...
GSK3B and AKT1 genes have been implicated in the pathogenesis of a number psychiatric neurological disorders. Furthermore, their genetic variants are associated with response to antidepressant pharmacotherapy. As evidence is still incomplete inconsistent, continuing efforts investigate role these two treatment brain disorders necessary. The aim our study was thus evaluate association depressive drug response.In present study, 222 patients disorder who underwent pharmacological were divided...
Schizophrenia is a severe psychiatric disorder, affecting ∼1% of the human population. The genetic contribution to schizophrenia significant, but genetics are complex and many aspects brain functioning, from neural development synapse structure, seem be involved in pathogenesis. A novel way study molecular causes left-right (LR) asymmetry, disease feature often observed schizophrenic patients.In this study, we analyzed by sequencing five candidate LR cerebral asymmetry genes cohort 95...
Abstract Objective AKT1 and GSK3B take part in one of the intracellular cascades activated by D2 dopamine receptor (DRD2). This is antagonized antipsychotics plays a role pathogenesis antipsychotic‐induced tardive dyskinesia (TD). The present study investigated association several polymorphisms two candidate genes, , with TD antipsychotic‐treated patients schizophrenia. Methods DNA samples from 449 Siberian regions (Russia) were genotyped, results analyzed using chi‐squared tests analyses...