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Search Results to Evgeny I Rogaev PhD

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One or more keywords matched the following properties of Rogaev, Evgeny

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Academic Background

Education

Moscow State University, Biological Department, School of Genetics

Master D. 1983
Ph.D. 1988
Dr.Sci. 1996

Work History

Scientific Researcher, Leading Researcher
National Mental Research Center
Russian Academy of Medical Science
1985-1990
Visiting Scientist, Visiting Professor (U of Toronto) 1992-1995, 2001
Head, Laboratory of Molecular Brain Genetics
Research Center of Mental Health
Russian Academy of Medical Sciences
1990- present
Professor of Psychiatry, BNRI, UMASS Medical School 2002- present

Molecular genetic mechanisms of neuropsychiatric diseases and dementia
Mapping and Positional cloning of genes for human pathologies

Photo: Evgeny Rogaev, PhD, DrSciOur research is focused on the identification of genes and cellular proteins that play a critical role in normal and pathological aspects of human behavior. To identify such genes and proteins we first use the strategies of linkage, genetic association analysis and positional cloning to isolate the mutant or polymorphic genes underlying the human diseases. We then develop functional assays to express these genes in vitro and in vivo to study their normal and pathogenic functions.

We are interested also in the study of evolutionary aspects of human populations, genome and specific genes in order to elucidate the phenomenon of some behavioral disorders prevalent in humankind.

Alzheimer's disease, schizophrenia and depression are three of the most common mental disorders and our primary interest.

Alzheimer's Disease

The mutations in human presenilin 1 and presenilin 2 genes, which we and our colleagues described previously, are a major cause of familial early-onset Alzheimer's disease. The AD-mutations in the presenilins are supposed to enhance its proteolysis-associated activity, that in turn may result in elevated amyloid precursor protein cleavage and production of neurotoxic beta amyloid derivates. However, other "non-amyloid" mechanisms of pathogenic effects of presenilins have not yet been ruled out. The role of presenilins in most common "non-familial" AD cases, and cellular factors or chemical compounds which may modulate the activity of presenilins, are still unclear. Our studies search for factors that may regulate presenilin genes and interact with presenilin proteins. We search for population variations and modifications in promoters of presenilin 1 and presenilin 2 genes and measure the transcriptional activity of variable regulatory regions of presenilins. The potential exogenous and endogenous inhibitors or repressors of these elements are tested in neural human or rat cells. We also search for families of proteins that interact directly with presenilins or their targets (e.g., Amyloid Precursor Protein and Notch-receptors) and which may serve as modulators of presenilin mediated proteolysis. These studies will contribute to understanding of fundamental mechanisms of inter- and intra-cellular signaling and also provide potential targets for treatment of Alzheimer's disease neuro-degeneration.

More than 50% of AD have no association with mutations in encoding regions of presenilins and other known AD -genes (ApoE,APP). Thus, there must be other AD genes yet to be discovered. In order to identify such genes, we combine the methods of genetic association and linkage analysis in families and population groups of late-onset AD patients and age-matched non-demented individuals. We test the single nucleotide polymorphisms (SNPs) in several selected chromosomal loci to define the narrow genomic region and ultimately identify novel genes associated with AD.

Schizophrenia and Depression

The molecular-genetic mechanisms and genes for schizophrenia or affective disorders remains to be elusive. We are collecting large samples of schizophrenia and affective disorders from ethnically defined populations. The identification of specific SNPs haplotypes and linkage disequilibrium analysis for a few candidate loci and genes are currently of our particular interest. A MassARRAY MALDI system will be used for fine mapping of these loci. Recently two novel candidate-genes for schizophrenia have been isolated from two chromosomal loci by testing of multiple polymorphic markers in two population samples. These primary data are to be replicated in the genetic study of other population samples. To elucidate the biological significance of the candidate-genes found by genetic approach, the study of effects of up- and down regulation of the candidate- genes on neuroplasticity and neurotransmition signaling will be undertaken.

Other Diseases

It is assumed that common diseases represent mainly polygenic or multifactorial diseases. The identification of the susceptible genes for such diseases is rather complicated. However, familial (Mendelian) transmission of diseases which may be clinically similar to common phenotypes is observed in rare families. We are interested in identifying and studying such families. Isolation of the disease genes in these rare families may help to elucidate the molecular mechanisms for more common forms of the human diseases.

We use unique resources in several genetic isolates and limited human populations. Large pedigrees of human families with autosomal-dominant and autosomal-recessive diseases with unknown gene defects are being collected . Currently, we apply strategies of positional cloning and direct screening of candidate-genes for variety of human diseases, including eg., morbid obesity with hyperphagia, a specific case of premature aging, eye-diseases, alopecia (baldness) and others.


One or more keywords matched the following items that are connected to Rogaev, Evgeny

Item TypeName
Academic Article Conservation of synteny between the genome of the pufferfish (Fugu rubripes) and the region on human chromosome 14 (14q24.3) associated with familial Alzheimer disease (AD3 locus)
Academic Article [The search for a mutation in the gene coding the beta-amyloid protein precursor gene in patients with Alzheimer-type dementias].
Academic Article Failure to detect missense mutations in the S182 gene in a series of late-onset Alzheimer's disease cases.
Academic Article Analysis of the 5' sequence, genomic structure, and alternative splicing of the presenilin-1 gene (PSEN1) associated with early onset Alzheimer disease.
Academic Article Presenilin polymorphisms in Alzheimer's disease.
Academic Article [Genetic basis for Alzheimer's disease and other dementias and prospects of molecular diagnosis].
Academic Article Alpha-2 macroglobulin gene in early- and late-onset Alzheimer disease.
Academic Article Association between angiotensin-converting enzyme and Alzheimer disease.
Academic Article Intergenerational instability of the CAG repeat of the gene for Machado-Joseph disease (MJD1) is affected by the genotype of the normal chromosome: implications for the molecular mechanisms of the instability of the CAG repeat.
Academic Article Alzheimer's disease associated with mutations in presenilin 2 is rare and variably penetrant.
Academic Article The angiotensin-converting enzyme gene as a possible risk or protective factor in Alzheimer's disease.
Academic Article Cloning and characterization of the Drosophila presenilin homologue.
Academic Article Mutations in the open reading frame of the beta-site APP cleaving enzyme (BACE) locus are not a common cause of Alzheimer's disease.
Academic Article [Rapid isolation of CpG-islands by PCR-amplification of genomic DNA fragments using a "CpG-enriched" primer].
Academic Article [Presenilins: detection and characterization of Alzheimer's disease genes].
Academic Article Effects of human presenilin 1 isoforms on proliferation and survival of rat pheochromocytoma cell line PC12.
Academic Article [Angiotensin-converting enzyme gene as a possible risk factor or protective factor in Alzheimer's disease].
Academic Article [Genetic factors and a polygenic model of Alzheimer's disease].
Academic Article Cholesterol 25-hydroxylase on chromosome 10q is a susceptibility gene for sporadic Alzheimer's disease.
Academic Article Presenilin-2 (PS2) expression up-regulation in a model of retinopathy of prematurity and pathoangiogenesis.
Academic Article [Genetic association between the apolipoprotein E (ApoE) gene alleles and various forms of Alzheimer's disease].
Academic Article Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations.
Academic Article Genotype analysis identifies the cause of the "royal disease".
Academic Article Genomics of behavioral diseases.
Academic Article Studying micro RNA Function and Dysfunction in Alzheimer's Disease.
Academic Article Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease.
Academic Article Missense mutation of S182 gene in Italian families with early-onset Alzheimer's disease.
Academic Article Analysis of the c-FOS gene on chromosome 14 and the promoter of the amyloid precursor protein gene in familial Alzheimer's disease.
Academic Article Genetic evidence for a novel familial Alzheimer's disease locus on chromosome 14.
Academic Article Role for glyoxalase I in Alzheimer's disease.
Academic Article EEG alterations in non-demented individuals related to apolipoprotein E genotype and to risk of Alzheimer disease.
Academic Article [Molecular basics of Alzheimer's disease].
Academic Article MicroRNA in schizophrenia: genetic and expression analysis of miR-130b (22q11).
Academic Article [Polymorphism of the apolipoprotein E gene (APOE) in the populations of Russia and neighboring countries].
Academic Article [Human microRNA in norm and pathology].
Academic Article [Analysis of clusterin gene (CLU/APOJ) polymorphism in Alzheimer's disease patients and in normal cohorts from Russian populations].
Academic Article Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene.
Academic Article Protein-DNA interactions in the promoter region of the amyloid precursor protein (APP) gene in human neocortex.
Academic Article Machado-Joseph disease in pedigrees of Azorean descent is linked to chromosome 14.
Academic Article Are the associations between Alzheimer's disease and polymorphisms in the apolipoprotein E and the apolipoprotein CII genes due to linkage disequilibrium?
Academic Article Alzheimer's disease and possible gene interaction.
Academic Article Evidence for inter-generational instability in the CAG repeat in the MJD1 gene and for conserved haplotypes at flanking markers amongst Japanese and Caucasian subjects with Machado-Joseph disease.
Concept Disease Models, Animal
Concept Disease Susceptibility
Concept Genetic Diseases, X-Linked
Concept Machado-Joseph Disease
Concept Genetic Predisposition to Disease
Concept Nervous System Diseases
Concept Cardiovascular Diseases
Concept Huntington Disease
Concept Alzheimer Disease
Academic Article [Mental disorders of cognitive and non-cognitive spectrum in the first-degree relatives of patients with Alzheimer's disease].
Academic Article Epigenetic dysregulation of hairy and enhancer of split 4 (HES4) is associated with striatal degeneration in postmortem Huntington brains.
Academic Article Whole-genome sequencing identifies a novel ABCB7 gene mutation for X-linked congenital cerebellar ataxia in a large family of Mongolian ancestry.
Academic Article [Biochip for determination of genetic markers of sporadic Alzheimer's disease in the Russian Slavic population].
Academic Article Quantitative EEG during normal aging: association with the Alzheimer's disease genetic risk variant in PICALM gene.
Academic Article Potential importance of B cells in aging and aging-associated neurodegenerative diseases.
Academic Article Biological Basis for Amyloidogenesis in Alzheimer's Disease.
Academic Article Quantitative Analysis of L1-Retrotransposons in Alzheimer's Disease and Aging.
Academic Article Genetics of Aggression in Alzheimer's Disease (AD).
Academic Article Genetic Association between Alzheimer's Disease Risk Variant of the PICALM Gene and Auditory Event-Related Potentials in Aging.
Academic Article Immunogenetic Factors of Neurodegenerative Diseases: The Role of HLA Class II.
Academic Article Mutational re-modeling of di-aspartyl intramembrane proteases: uncoupling physiologically-relevant activities from those associated with Alzheimer's disease.
Academic Article Correction to: Potential importance of B cells in aging and aging-associated neurodegenerative diseases.
Academic Article Dissection of the Human T-Cell Receptor ? Gene Repertoire in the Brain and Peripheral Blood Identifies Age- and Alzheimer's Disease-Associated Clonotype Profiles.
Academic Article Genetic Association Between Alzheimer's Disease Risk Variant of the PICALM Gene and EEG Functional Connectivity in Non-demented Adults.
Academic Article [Direct detection of loci with pathologic trinucleotide repeats in diseases with anticipation].

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