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
- 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
Effects of Reindeer Grazing on Pastures - A Necessary Basis for Sustainable Reindeer Herding
- Author
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/2005
- Field of study
Differences in aberrant expression and splicing of sarcomeric proteins in the myotonic dystrophies DM1 and DM2
- Author
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/2010
- Field of study
Aberrant transcription and mRNA processing of multiple genes due to RNA-mediated toxic gain-of-function has been suggested to cause the complex phenotype in myotonic dystrophies type 1 and 2 (DM1 and DM2). However, the molecular basis of muscle weakness and wasting and the different pattern of muscle involvement in DM1 and DM2 are not well understood. We have analyzed the mRNA expression of genes encoding muscle-specific proteins and transcription factors by microarray profiling and studied selected genes for abnormal splicing. A subset of the abnormally regulated genes was further analyzed at the protein level. TNNT3 and LDB3 showed abnormal splicing with significant differences in proportions between DM2 and DM1. The differential abnormal splicing patterns for TNNT3 and LDB3 appeared more pronounced in DM2 relative to DM1 and are among the first molecular differences reported between the two diseases. In addition to these specific differences, the majority of the analyzed genes showed an overall increased expression at the mRNA level. In particular, there was a more global abnormality of all different myosin isoforms in both DM1 and DM2 with increased transcript levels and a differential pattern of protein expression. Atrophic fibers in DM2 patients expressed only the fast myosin isoform, while in DM1 patients they co-expressed fast and slow isoforms. However, there was no increase of total myosin protein levels, suggesting that aberrant protein translation and/or turnover may also be involved
Completed suicide in medical/surgical patients: Who is at risk?
- Author
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
Molecules in Strong Laser Fields
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- A. Assion
- A. Assion
- A. Emmanouilidou
- A. Giusti-Suzor
- A. KĂ€stner
- A. Palacios
- A. Szabo
- A.D. Bandrauk
- A.D. Bandrauk
- B. Feuerstein
- B.H. Bransden
- B.M. Garraway
- B.N. Finkelstein
- C. Gollub
- D. Babikov
- D. Kohen
- D. ter Haar
- D. Zeidler
- D.J. Tannor
- D.J. Tannor
- D.J. Tannor
- D.W. Hone
- E. Kierig
- E.U. Condon
- F. Grossmann
- F. Grossmann
- F. Grossmann
- F. Grossmann
- F. Hund
- G. Herzberg
- G. Stock
- G.D. Valle
- H. Haken
- H. Wind
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- H.D. Meyer
- I.S. Gradshteyn
- J. Franck
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- J.D. Jackson
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- M. Thoss
- M. Uhlmann
- M.F. Kling
- M.J. Davis
- P. Brumer
- P. Passarinho
- P.M. Morse
- R. Kosloff
- R. Mecke
- R. Schinke
- R.B. Walker
- R.S. Judson
- S. Chelkowski
- S. Chelkowski
- S. Chelkowski
- S. Haessler
- S. Krempl
- S. Shi
- S.A. Rice
- S.O. Williams
- T. Cheng
- T. Fennel
- T. Kunert
- T. Zuo
- U. Saalmann
- U. Weiss
- V. Engel
- V. Engel
- V. Roudnev
- V.F. Krotov
- W. Jakubetz
- Y. Kayanuma
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/2013
- Field of study
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- A. Steinman
- A. Taguchi
- A.M. Steinman
- A.W. Conn
- American Heart Association in collaboration with International Liaison Committee on Resuscitation
- B. Löfström
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- D. Grahn
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- D.F. Danzl
- D.F. Danzl
- D.F. Vretenar
- D.F. Zandstra
- D.G. Baker
- D.I. Sessler
- D.J. Bohn
- D.R. Axelrod
- D.S. Prough
- E. Kornberger
- E. Soreide
- E.L. Lloyd
- E.R. Dusek
- F. Golden
- F. Golden
- F. Golden
- F. Golden
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- HCAS (Hypothermia after Cardiac Arrest Study Group)
- I.M. Ledingham
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- J. Aukerman
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- M.T. Steel
- Martin
- P. Kulkarni
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- P. Suominen
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- P. Tikuisis
- R. Fretchner
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- R.W. Hoskin
- R.Y. Chen
- S. Chadwick
- S. Henneberg
- S. Töllöfsrud
- S.A. Bernard
- S.D. Broach
- S.J. Harrison
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- S.M. Frank
- T. Lauri
- T. Locher
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- T. Tveita
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- T. Yeh
- T.T. Romet
- U. Mehlhorn
- V. Popovic
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- V. Popovic
- W. Wallace
- W.D. Risch
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- W.J.J. Mills
- W.R. Keatinge
- Y.C. Lin
- Publication venue
- Publication date
- 01/01/2006
- Field of study
The genetic and ecophysiological diversity of Microcystis
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- Agha R.
- Agrawal A.A.
- Agrawal A.A.
- Ahlgren G.
- Akins L.
- Alexova R.
- Alexova R.
- Amin S.A.
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- Anderson C.R.
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- Arevalo P.
- Aulnoies M.G.
- Baker J.A.
- Baldia S.F.
- Bapteste E.
- Barchewitz T.
- Bastviken D.T.E.
- Batista A.M.M.
- Bayer B.
- BañaresâEspaña E.
- Beardall J.
- Berry M.A.
- Beversdorf L.J.
- Biller S.J.
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- Bozarth C.S.
- Brandenburg K.M.
- Bratbak G.
- Breitbart M.
- Briand E.
- Briand E.
- Briand E.
- Briand E.
- Brookes J.D.
- Brookes J.D.
- Brum J.R.
- Brunberg A.K.
- Bui T.
- Burberg C.
- Burns C.W.
- Cai H.
- Caiola M.G.
- Carmichael W.W.
- Carmichael W.W.
- Cataldo D.
- Chaffin J.D.
- Chan J.Z.M.
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- Chernoff N.
- Chia M.A.
- Chislock M.F.
- Chorus I.
- ChristieâOleza J.A.
- Chu Z.
- Chun S.J.
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- Cooper W.J.
- Cory R.M.
- Cosgrove K.
- Costas E.
- Cottingham K.L.
- Croft M.T.
- Davis T.W.
- Davis T.W.
- Davis T.W.
- Deblois C.P.
- Denef V.J.
- Dick G.J.
- Dittmann E.
- Donald D.B.
- Dong J.
- Downing T.G.
- Droop M.
- DrĂĄbkovĂĄ M.
- Duan Z.
- Durham B.P.
- Durham B.P.
- Dziallas C.
- DĂaz S.
- Ehrenreich I.M.
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- Fogg G.E.
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- Forni C.
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- Gerloff G.
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- Zhai C.
- Zhou Y.
- Zilliges Y.
- Zinser E.R.
- Zwart J.A.
- ZĂŒst T.
- Publication venue
- 'Wiley'
- Publication date
- 01/12/2021
- Field of study
Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/171576/1/emi15615.pdfhttp://deepblue.lib.umich.edu/bitstream/2027.42/171576/2/emi15615-sup-0002-FigureS1.pdfhttp://deepblue.lib.umich.edu/bitstream/2027.42/171576/3/emi15615_am.pd
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)