8 research outputs found
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.
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- Amouyel Philippe
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- Publication venue
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- Field of study
Get PDFCharacterization 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
Scaling the MAPK Signaling Threshold during CNS Patterning
- Author
- Publication venue
- 'Elsevier BV'
- Publication date
- Field of study
No full textExpression of Cux-1 and Cux-2 in the subventricular zone and upper layers II-IV of the cerebral cortex.
- Publication venue
- 'Royal College of Obstetricians & Gynaecologists (RCOG)'
- Publication date
- 01/01/2004
- Field of study
No full textThe gene for the POU domain transcription factor Oct-6 maps to the distal end of mouse Chromosome 4
- Author
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/1992
- Field of study
No full textAn integrated microfluidic device for long-term culture of isolated single mammalian cells
- Author
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
No full textSonic Hedgehog Signaling in Craniofacial Development
- Author
- A. Honda
- A. Molotkov
- A. Ruiz i Altaba
- A. Trumpp
- A. Vortkamp
- A. Wild
- A.G. Lumsden
- A.I. Farbman
- A.R. Vieira
- A.S. Tucker
- A.S. Tucker
- C. Chiang
- C. Roux
- C.C. Hui
- C.C. Mello
- C.J. Drake
- C.M. Mistretta
- C.S. Lee
- C.W. Lam
- D. Cordero
- D. Cordero
- D. Greig
- D. Hu
- D. Hu
- D. Lacombe
- D. Wallis
- D.L. Young
- D.M. Noden
- E. Belloni
- E. Roessler
- E. Roessler
- E. Roessler
- E. Traiffort
- E.I. Christensen
- E.S. Monuki
- F.L. Lacbawan
- H. Birn
- H. Knoetgen
- H. Nau
- H. Peters
- H. Spemann HaM
- H.S. Jung
- J. Briscoe
- J. Briscoe
- J. Ericson
- J. Ericson
- J. Jeong
- J. Jernvall
- J.A. Helms
- J.A. Helms
- J.A. Helms
- J.E. Ming
- J.K. Chen
- J.L. Barth
- J.M. Hall
- J.M. Hall
- J.P. Incardona
- J.R. Timmer
- K. Aoto
- K.E. Lewis
- K.L. Jones
- L. Hoffman
- L. Milenkovic
- L. Moerlooze De
- L. Nanni
- L. Nanni
- L.A. Schimmenti
- L.F. James
- L.S. Cutler
- L.V. Goodrich
- L.V. Goodrich
- L.V. Goodrich
- M. Hayhurst
- M. Igarashi
- M. Kalff-Suske
- M. Kashimata
- M. Kolf-Clauw
- M. Kolf-Clauw
- M. Marini
- M. Marklund
- M. Melnick
- M. Mina
- M. Monga
- M. Muenke
- M. Muenke
- M.K. Cooper
- M.M. Cohen Jr
- M.M. Cohen Jr
- M.T. Cobourne
- M.T. Cobourne
- M.W. Ferguson
- N. Boutet
- N. Kessaris
- N.M. Douarin Le
- N.M. Douarin Le
- P. Buxton
- P. Francis-West
- P. Kulesa
- P.A. Duncan
- P.A. Trainor
- P.D. Sampson
- P.H. Crossley
- P.M. Lewis
- Q. Ding
- R. Mo
- R. Rice
- R. Wadhwa
- R.A. McCarthy
- R.A. McCarthy
- R.A. Schneider
- R.A. Schneider
- R.D. Zachman
- R.F. Keeler
- R.F. Keeler
- R.F. Keeler
- R.F. Keeler
- R.F. Keller
- R.J. Edison
- R.J. Gorlin
- R.L. Johnson
- R.L. Kelley
- R.S. Stern
- S. Coventry
- S. Kang
- S. Kang
- S. Mocellin
- S. Shefer
- S. Worthington
- S.C. Ahlgren
- S.H. Shin
- T. Jaskoll
- T. Jaskoll
- T. Tabata
- T.E. Willnow
- V. Palma
- W. Binns
- W. Binns
- W. Demyer
- W. Gaffield
- X. Zeng
- Y. Chen
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/2006
- Field of study
No full textGenome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/2021
- Field of study
No full textThe genetic basis of Lewy body dementia (LBD) is not well understood. Here, we performed whole-genome sequencing in large cohorts of LBD cases and neurologically healthy controls to study the genetic architecture of this understudied form of dementia, and to generate a resource for the scientific community. Genome-wide association analysis identified five independent risk loci, whereas genome-wide gene-aggregation tests implicated mutations in the gene GBA. Genetic risk scores demonstrate that LBD shares risk profiles and pathways with Alzheimerâs disease and Parkinsonâs disease, providing a deeper molecular understanding of the complex genetic architecture of this age-related neurodegenerative condition. © 2021, This is a U.S. government work and not under copyright protection in the U.S.; foreign copyright protection may apply
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
No full textCharacterization 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)
