9 research outputs found
New insights into the genetic etiology of Alzheimer's disease and related dementias.
- Author
- Aarsland D.
- Abdelnour C.
- Ahmad S.
- AlarcĂłn-MartĂn E.
- Alcolea D.
- Alegret M.
- Allende I.R.
- Alvarez I.
- Amin N.
- Amouyel P.
- Andrade V.
- Andreassen O.A.
- AntĂșnez C.
- Appollonio I.
- Arcaro M.
- Archetti S.
- Armstrong N.J.
- Arosio B.
- Athanasiu L.
- Bailly H.
- Banaj N.
- Baquero M.
- Barral S.
- Beiser A.
- Bellenguez C.
- Below J.E.
- Benchek P.
- Benussi L.
- Berr C.
- Besse C.
- Bessi V.
- Biessels G.J.
- Binetti G.
- Bis J.C.
- Bizarro A.
- Blesa R.
- Boada M.
- Boerwinkle E.
- Boland A.
- Borroni B.
- Boschi S.
- BossĂč P.
- Bresner C.
- Bressler J.
- Brodaty H.
- Broeckhoven C.V.
- Brookes K.J.
- Brusco L.I.
- BrÄthen G.
- Buiza-Rueda D.
- Bullido M.J.
- Burholt V.
- Bush W.S.
- Bûrger K.
- Calero M.
- Campos-Martin R.
- Cantwell L.B.
- Carracedo Ă.
- Cecchetti R.
- Cervera-Carles L.
- Chapuis J.
- Charbonnier C.
- Chen H.H.
- Chene G.
- Chillotti C.
- Chung J.
- Ciccone S.
- Claassen JAHR
- Clarimon J.
- Clark C.
- Conti E.
- Corma-GĂłmez A.
- Costa M.R.
- Costantini E.
- Cuccaro M.L.
- Custodero C.
- Daian D.
- Dalmasso M.C.
- Damotte V.
- Daniele A.
- Dardiotis E.
- Dartigues J.F.
- de Deyn P.P.
- de Mendonça A.
- de Munain A.L.
- de Paiva Lopes K.
- de Rojas I.
- de Witte L.D.
- Debette S.
- Deckert J.
- Del Ser T.
- Deleuze J.F.
- Denning N.
- DeStefano A.
- Dichgans M.
- Diehl-Schmid J.
- Diez-Fairen M.
- Djurovic S.
- Dongen J.V.
- Dufouil C.
- Duron E.
- DĂŒzel E.
- Eiriksdottir G.
- Engelborghs S.
- Escott-Price V.
- Espinosa A.
- Ewers M.
- Faber K.M.
- Fabrizio T.
- Fardo D.W.
- Farotti L.
- Farrer L.A.
- Fenoglio C.
- FernĂĄndez-Fuertes M.
- Ferrari R.
- Ferreira C.B.
- Ferri E.
- Fin B.
- Fischer P.
- Fladby T.
- FlieĂbach K.
- Fongang B.
- Fornage M.
- Foroud T.M.
- Fortea J.
- Fostinelli S.
- Fox N.C.
- Franco-MacĂas E.
- Frank-GarcĂa A.
- Frikke-Schmidt R.
- Froelich L.
- Fulton-Howard B.
- Galimberti D.
- Garcia-Gonzalez P.
- Garcia-Madrona S.
- Garcia-Ribas G.
- GarcĂa-Alberca J.M.
- GarcĂa-GonzĂĄlez P.
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- Ghidoni R.
- Giedraitis V.
- Giegling I.
- Giorgio G.
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- Graff C.
- Grande G.
- Green E.
- Grenier-Boley B.
- Grimmer T.
- Grunin M.
- GrĂŒnblatt E.
- Gudnason V.
- Guetta-Baranes T.
- Haapasalo A.
- Hadjigeorgiou G.
- Haines J.L.
- Hamilton-Nelson K.L.
- Hampel H.
- Hanon O.
- Hardy J.
- Hartmann A.M.
- Harwood J.
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- Heilmann-Heimbach S.
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- Heneka M.T.
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- StÄhlbom A.K.
- SĂĄez M.E.
- SĂĄnchez-Arjona M.B.
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- Valero S.
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- van der Flier W.M.
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- Vance J.
- Vandenberghe R.
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- Weinhold L.
- Williams J.
- Wiltfang J.
- Windle G.
- Woods B.
- Yang Q.
- Yannakoulia M.
- Yaqub A.
- Zare H.
- Zhang X.
- Zhao Y.
- Zhu C.
- Zulaica M.
- Ălvarez V.
- Publication venue
- Publication date
- 01/04/2022
- Field of study
Characterization of the genetic landscape of Alzheimer's disease (AD) and related dementias (ADD) provides a unique opportunity for a better understanding of the associated pathophysiological processes. We performed a two-stage genome-wide association study totaling 111,326 clinically diagnosed/'proxy' AD cases and 677,663 controls. We found 75 risk loci, of which 42 were new at the time of analysis. Pathway enrichment analyses confirmed the involvement of amyloid/tau pathways and highlighted microglia implication. Gene prioritization in the new loci identified 31 genes that were suggestive of new genetically associated processes, including the tumor necrosis factor alpha pathway through the linear ubiquitin chain assembly complex. We also built a new genetic risk score associated with the risk of future AD/dementia or progression from mild cognitive impairment to AD/dementia. The improvement in prediction led to a 1.6- to 1.9-fold increase in AD risk from the lowest to the highest decile, in addition to effects of age and the APOE Δ4 allele
New insights into the genetic etiology of Alzheimer's disease and related dementias
- Author
- Aaltonen L.
- Aaltonen V.
- Aarsland Dag
- Aavikko M.
- Abalos M.S.
- Abdelnour Carla
- Abner E.
- Abraham R.
- Adams H.
- Adams P.M.
- Adarmes-GĂłmez A.
- Adarmes-GĂłmez A.D.
- Aguilera N.
- Aguilera N.
- Aguirre A.
- Ahmad S.
- Akinyemi R.O.
- Al-Chalabi A.
- AlarcĂłn-MartĂn Emilio
- Albert M.S.
- Albin R.L.
- Alcolea Daniel
- Alegret Montserrat
- Ali M.
- Allen M.
- Allende I.R.
- Alonso M.D.
- Alonso M.D.
- Alvarez I.
- Alvarez L.
- Amer-Ferrer G.
- Amin N.
- Amouyel Philippe
- Anastasiou A.
- Anastasiou C.
- Andrade V.
- Andreassen Ole A.
- Andreoni S.
- Antequera M.
- Antikainen R.
- Antonell A.
- Anttonen V.
- AntĂșnez C.
- Aparicio H.J.
- Apostolova L.G.
- Appollonio I.
- Arcaro M.
- Archetti S.
- Armstrong N.J.
- Arnold S.E.
- Arosio B.
- Arvas M.
- Assogna F.
- Asthana S.
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- Atwood C.S.
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- 01/01/2022
- Field of study
Characterization of the genetic landscape of Alzheimer's disease (AD) and related dementias (ADD) provides a unique opportunity for a better understanding of the associated pathophysiological processes. We performed a two-stage genome-wide association study totaling 111,326 clinically diagnosed/'proxy' AD cases and 677,663 controls. We found 75 risk loci, of which 42 were new at the time of analysis. Pathway enrichment analyses confirmed the involvement of amyloid/tau pathways and highlighted microglia implication. Gene prioritization in the new loci identified 31 genes that were suggestive of new genetically associated processes, including the tumor necrosis factor alpha pathway through the linear ubiquitin chain assembly complex. We also built a new genetic risk score associated with the risk of future AD/dementia or progression from mild cognitive impairment to AD/dementia. The improvement in prediction led to a 1.6- to 1.9-fold increase in AD risk from the lowest to the highest decile, in addition to effects of age and the APOE Δ4 allele
A Qualitative Study of Children's Perspectives on Their Peer Relationships in the Context of Living with a Craniofacial Anomaly
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- Aron A.
- Bierman K.L.
- Chibbaro P.D.
- Creswell J.W.
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- Richman L.C.
- Slifer K.J.
- Snyder H.T.
- Tobiasen J.M.
- Publication venue
- 'American Cleft Palate Association'
- Publication date
- Field of study
SNPing Away at Complex Diseases: Analysis of Single-Nucleotide Polymorphisms around APOE in Alzheimer Disease
- Author
- A.J. Afshari
- Ahting
- Allen D. Roses
- Allison R. Rogala
- Ashworth
- Blacker
- Brandon D. Slotterbeck
- Clayton
- Collins
- Corder
- Corder
- Donald E. Schmechel
- Eden R. Martin
- Eric H. Lai
- Freitas
- Gerdes
- Hanlon
- Hauser
- Heid
- Ian Purvis
- J.F. Stevens
- Jeffery M. Vance
- John R. Gilbert
- John Riley
- K.J. Livak
- K.L. Finch
- Lai
- Lathrop
- Liling L. Warren
- Margaret A. Pericak-Vance
- Marshall
- Martin
- Martin
- Martin
- Murray
- P. Michael Conneally
- Pericak-Vance
- Pericak-Vance
- Rimmler
- Risch
- Saunders
- Schmechel
- Strittmatter
- Strittmatter
- Susan H. Slifer
- Terwilliger
- Vance
- Zaykin
- Publication venue
- 'University of Chicago Press'
- Publication date
- Field of study
Seeing the Forest and the Trees: A More Rigorous Approach to Measurement and Validity in Behavioral Disorders Intervention Research
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- A.C. Repp D.M. Roberts, D.J. Slack, C.F. Rapp, M.S. Berkley
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- E.G. Carr S.C. Yarbrough, N.A. Langdon
- E.G. Carr V.M. Durand
- F.M. Gresham G. Sugai, R.H. Horner
- G. Sasso M.A. Conroy, J. Stichter, J.J. Fox
- G.M. Sasso T. Reimers, L. Cooper, D. Wacker, W. Berg, L. Kelly, A. Allaire
- H.M. Walker H.H. Severson
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- J. Peck G.M. Sasso, K. Jolivette
- J. Stichter M.A. Conroy
- J. Tapp J.H. Wehby
- J.A. Asmus J.E. Ringdahl, J.A. Sellers, N.A. Call, M.S. Andelman, D.P. Wacker
- J.P. Stichter S. Hudson, G.M. Sasso
- J.P. Stichter T.J. Lewis, N. Johnson, R. Trussell
- J.R. Nelson M. Roberts, S.R. Mathur, R.B. Rutherford
- K.E. Stanovich
- L. Kern P. Manz
- L.J. Cronbach P.E. Meehl
- M. Sidman
- M. Weeks R. Gaylord-Ross
- M.A. Conroy J.M. Hendrickson, P. Hester
- M.J. Shirley B.A. Iwata, S.W. Kahng
- R. Gersten L.S. Fuchs, D. Compton, M. Coyne, C. Greenwood, M.S. Innocenti
- R. Simpson
- R.A. Fabes C.L. Matrin, L.D. Hanish, K.A. Updegraff
- R.H. Horner E.G. Carr, J. Halle, G. McGee, S. Odom, M. Wolery
- R.H. Horner G. Sugai, A. Todd, T. Lewis-Palmer
- S.L. Odom
- S.P. Safran K. Oswald
- S.R. Forness
- T.M. Achenbach
- T.M. Scott C. Liaupsin, C.M. Nelson, J. McIntyre
- Publication venue
- 'Elsevier BV'
- Publication date
- 01/01/2006
- Field of study
An integrated encyclopedia of DNA elements in the human genome.
- Author
- Abdelhamid R.F.
- Absher D.M.
- Abyzov A.
- Abyzov A.
- Adams L.B.
- Adar S.
- Addleman N.
- Aken B.
- Akey J.A.
- Aldred S.F.
- Aldred S.F.
- Alexander R.P.
- Alexander R.P.
- Alioto T.
- Altshuler R.C.
- Altshuler R.C.
- Amrhein H.
- Anaya M.
- Antonarakis S.E.
- Antoshechkin I.
- Antoshechkin I.
- Auer T.
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- 'Springer Science and Business Media LLC'
- Publication date
- 01/11/2011
- Field of study
The human genome encodes the blueprint of life, but the function of the vast majority of its nearly three billion bases is unknown. The Encyclopedia of DNA Elements (ENCODE) project has systematically mapped regions of transcription, transcription factor association, chromatin structure and histone modification. These data enabled us to assign biochemical functions for 80% of the genome, in particular outside of the well-studied protein-coding regions. Many discovered candidate regulatory elements are physically associated with one another and with expressed genes, providing new insights into the mechanisms of gene regulation. The newly identified elements also show a statistical correspondence to sequence variants linked to human disease, and can thereby guide interpretation of this variation. Overall, the project provides new insights into the organization and regulation of our genes and genome, and is an expansive resource of functional annotations for biomedical research
New insights into the genetic etiology of Alzheimer's disease and related dementias
- Publication venue
- Publication date
- 01/01/2022
- Field of study
Characterization of the genetic landscape of Alzheimer's disease (AD) and related dementias (ADD) provides a unique opportunity for a better understanding of the associated pathophysiological processes. We performed a two-stage genome-wide association study totaling 111,326 clinically diagnosed/'proxy' AD cases and 677,663 controls. We found 75 risk loci, of which 42 were new at the time of analysis. Pathway enrichment analyses confirmed the involvement of amyloid/tau pathways and highlighted microglia implication. Gene prioritization in the new loci identified 31 genes that were suggestive of new genetically associated processes, including the tumor necrosis factor alpha pathway through the linear ubiquitin chain assembly complex. We also built a new genetic risk score associated with the risk of future AD/dementia or progression from mild cognitive impairment to AD/dementia. The improvement in prediction led to a 1.6- to 1.9-fold increase in AD risk from the lowest to the highest decile, in addition to effects of age and the APOE Δ4 allele. © 2022. The Author(s)
Strong Interaction Physics at the Luminosity Frontier with 22 GeV Electrons at Jefferson Lab
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- Shrestha S.
- Shrestha U.
- Shvedunov V.I.
- Signori A.
- Slifer K.J.
- Smith W.A.
- Somov A.
- Souder P.
- Sparveris N.
- Spizzo F.
- Spreafico M.
- Stepanyan S.
- Stevens J.R.
- Strakovsky I.I.
- Strauch S.
- Strikman M.
- Su S.
- Sumner B.C.L.
- Sun E.
- Suresh M.
- Sutera C.
- Swanson E.S.
- Szczepaniak A.P.
- Sznajder P.
- Szumila-Vance H.
- Szymanowski L.
- Tadepalli A.-S.
- Tadevosyan V.
- Tamang B.
- Tarasov V.V.
- Thiel A.
- Tong X.-B.
- Tyson R.
- Ungaro M.
- Urciuoli G.M.
- Usman A.
- Valcarce A.
- Vallarino S.
- Vaquera-Araujo C.A.
- Venturelli L.
- Vera F.
- Vladimirov A.
- Vossen A.
- Wagner J.
- Wei X.
- Weinstein L.B.
- Weiss C.
- Williams R.
- Winney D.
- Wojtsekhowski B.
- Wood M.H.
- Xiao T.
- Xu S.-S.
- Ye Z.
- Yero C.
- Yuan C.-P.
- Yurov M.
- Zachariou N.
- Zhang Z.
- Zhao Y.
- Zhao Z.W.
- Zheng X.
- Zhou X.
- Ziegler V.
- Zihlmann B.
- Publication venue
- Publication date
- 13/06/2023
- Field of study
This document presents the initial scientific case for upgrading the Continuous Electron Beam Accelerator Facility (CEBAF) at Jefferson Lab (JLab) to 22 GeV. It is the result of a community effort, incorporating insights from a series of workshops conducted between March 2022 and April 2023. With a track record of over 25 years in delivering the world's most intense and precise multi-GeV electron beams, CEBAF's potential for a higher energy upgrade presents a unique opportunity for an innovative nuclear physics program, which seamlessly integrates a rich historical background with a promising future. The proposed physics program encompass a diverse range of investigations centered around the nonperturbative dynamics inherent in hadron structure and the exploration of strongly interacting systems. It builds upon the exceptional capabilities of CEBAF in high-luminosity operations, the availability of existing or planned Hall equipment, and recent advancements in accelerator technology. The proposed program cover various scientific topics, including Hadron Spectroscopy, Partonic Structure and Spin, Hadronization and Transverse Momentum, Spatial Structure, Mechanical Properties, Form Factors and Emergent Hadron Mass, Hadron-Quark Transition, and Nuclear Dynamics at Extreme Conditions, as well as QCD Confinement and Fundamental Symmetries. Each topic highlights the key measurements achievable at a 22 GeV CEBAF accelerator. Furthermore, this document outlines the significant physics outcomes and unique aspects of these programs that distinguish them from other existing or planned facilities. In summary, this document provides an exciting rationale for the energy upgrade of CEBAF to 22 GeV, outlining the transformative scientific potential that lies within reach, and the remarkable opportunities it offers for advancing our understanding of hadron physics and related fundamental phenomena
New insights into the genetic etiology of Alzheimerâs disease and related dementias
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/2022
- Field of study
Characterization of the genetic landscape of Alzheimerâs disease (AD) and related dementias (ADD) provides a unique opportunity for a better understanding of the associated pathophysiological processes. We performed a two-stage genome-wide association study totaling 111,326 clinically diagnosed/âproxyâ AD cases and 677,663 controls. We found 75 risk loci, of which 42 were new at the time of analysis. Pathway enrichment analyses confirmed the involvement of amyloid/tau pathways and highlighted microglia implication. Gene prioritization in the new loci identified 31 genes that were suggestive of new genetically associated processes, including the tumor necrosis factor alpha pathway through the linear ubiquitin chain assembly complex. We also built a new genetic risk score associated with the risk of future AD/dementia or progression from mild cognitive impairment to AD/dementia. The improvement in prediction led to a 1.6- to 1.9-fold increase in AD risk from the lowest to the highest decile, in addition to effects of age and the APOE Δ4 allele. © 2022, The Author(s)