1
40
2
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Text
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URL Address
<a href="http://doi.org/10.1007/s40572-017-0143-2" target="_blank" rel="noreferrer noopener">http://doi.org/10.1007/s40572-017-0143-2</a>
Pages
192–199
Issue
2
Volume
4
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
Mechanisms of Gene-Environment Interactions in Parkinson's Disease.
Publisher
An entity responsible for making the resource available
Current environmental health reports
Date
A point or period of time associated with an event in the lifecycle of the resource
2017
2017-06
Subject
The topic of the resource
*Alpha-synuclein; *ATP13A2; *Gene-Environment Interaction; *Genetic Predisposition to Disease; *Manganese; *Paraquat; *Parkinson Disease; *Parkinson's disease; *Rotenone; Environmental Exposure/*adverse effects; Herbicides/adverse effects; Humans; Insecticides/adverse effects; Mutation/genetics; Paraquat/adverse effects; Risk Factors; Rotenone/adverse effects
Creator
An entity primarily responsible for making the resource
Fleming Sheila M
Description
An account of the resource
PURPOSE OF REVIEW: The purpose of the study was to discuss the main mechanisms associated with environmental and genetic factors that contribute to the development of Parkinson's disease (PD). RECENT FINDINGS: Novel genetic contributors to PD are being identified at a rapid pace in addition to novel environmental factors. The discovery of mutations in alpha-synuclein and leucine-rich repeat kinase 2 causing inherited forms of PD along with epidemiological, in vitro, and in vivo studies identifying herbicides, pesticides, and metals as risk factors have dramatically improved our understanding of mechanisms involved in the development of PD. However, at the same time, these discoveries have also added layers of complexity to the disease. Within the last several years, the genetics associated with PD has dominated the field in many ways; however, the majority of PD cases are likely due to different combinations of environmental exposures and genetic susceptibility. The most common toxicants used to model PD including rotenone, paraquat, and
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1007/s40572-017-0143-2" target="_blank" rel="noreferrer noopener">10.1007/s40572-017-0143-2</a>
Rights
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Article information provided for research and reference use only. All rights are retained by the journal listed under publisher and/or the creator(s).
*Alpha-synuclein
*ATP13A2
*Gene-Environment Interaction
*Genetic Predisposition to Disease
*Manganese
*Paraquat
*Parkinson Disease
*Parkinson's disease
*Rotenone
2017
Current environmental health reports
Department of Pharmaceutical Sciences
Environmental Exposure/*adverse effects
Fleming Sheila M
Herbicides/adverse effects
Humans
Insecticides/adverse effects
Mutation/genetics
NEOMED College of Pharmacy
Paraquat/adverse effects
Risk Factors
Rotenone/adverse effects
-
Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
URL Address
<a href="http://doi.org/10.1186/s12967-014-0333-8" target="_blank" rel="noreferrer noopener">http://doi.org/10.1186/s12967-014-0333-8</a>
Pages
16–16
Volume
13
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
Analyzing the most frequent disease loci in targeted patient categories optimizes disease gene identification and test accuracy worldwide.
Publisher
An entity responsible for making the resource available
Journal of translational medicine
Date
A point or period of time associated with an event in the lifecycle of the resource
2015
2015-01
Subject
The topic of the resource
*Genetic Loci; *Genetic Predisposition to Disease; Adult; Child; Chromosomes; Disease/*genetics; European Continental Ancestry Group; Female; Genes; Genetic Testing/*methods; Genetics; Heterozygote; Human/genetics; Humans; Infant; Newborn; Population; Pregnancy; Prenatal Diagnosis; Rare Diseases/genetics; Recessive
Creator
An entity primarily responsible for making the resource
Lebo Roger V; Tonk Vijay S
Description
An account of the resource
BACKGROUND: Our genomewide studies support targeted testing the most frequent genetic diseases by patient category: (1) pregnant patients, (2) at-risk conceptuses, (3) affected children, and (4) abnormal adults. This approach not only identifies most reported disease causing sequences accurately, but also minimizes incorrectly identified additional disease causing loci. METHODS: Diseases were grouped in descending order of occurrence from four data sets: (1) GeneTests 534 listed population prevalences, (2) 4129 high risk prenatal karyotypes, (3) 1265 affected patient microarrays, and (4) reanalysis of 25,452 asymptomatic patient results screened prenatally for 108 genetic diseases. These most frequent diseases are categorized by transmission: (A) autosomal recessive, (B) X-linked, (C) autosomal dominant, (D) microscopic chromosome rearrangements, (E) submicroscopic copy number changes, and (F) frequent ethnic diseases. RESULTS: Among affected and carrier patients worldwide, most reported mutant genes would be identified correctly according to one of four patient categories from at-risk couples with \textless64 tested genes to affected adults with 314 tested loci. Three clinically reported patient series confirmed this approach. First, only 54 targeted chromosomal sites would have detected all 938 microscopically visible unbalanced karyotypes among 4129 karyotyped POC, CVS, and amniocentesis samples. Second, 37 of 48 reported aneuploid regions were found among our 1265 clinical microarrays confirming the locations of 8 schizophrenia loci and 20 aneuploidies altering intellectual ability, while also identifying 9 of the most frequent deletion syndromes. Third, testing 15 frequent genes would have identified 124 couples with a 1 in 4 risk of a fetus with a recessive disease compared to the 127 couples identified by testing all 108 genes, while testing all mutations in 15 genes could have identified more couples. CONCLUSION: Testing the most frequent disease causing abnormalities in 1 of 8 reported disease loci [\textasciitilde1 of 84 total genes] will identify \textasciitilde 7 of 8 reported abnormal Caucasian newborn genotypes. This would eliminate \textasciitilde8 to 10 of \textasciitilde10 Caucasian newborn gene sequences selected as abnormal that are actually normal variants identified when testing all \textasciitilde2500 diseases looking for the remaining 1 of 8 disease causing genes. This approach enables more accurate testing within available laboratory and reimbursement resources.
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1186/s12967-014-0333-8" target="_blank" rel="noreferrer noopener">10.1186/s12967-014-0333-8</a>
Rights
Information about rights held in and over the resource
Article information provided for research and reference use only. All rights are retained by the journal listed under publisher and/or the creator(s).
*Genetic Loci
*Genetic Predisposition to Disease
2015
Adult
Child
Chromosomes
Disease/*genetics
European Continental Ancestry Group
Female
Genes
Genetic Testing/*methods
Genetics
Heterozygote
Human/genetics
Humans
Infant
Journal of translational medicine
Lebo Roger V
Newborn
Population
Pregnancy
Prenatal Diagnosis
Rare Diseases/genetics
Recessive
Tonk Vijay S