88 research outputs found
Genome-wide association of major depression: description of samples for the GAIN Major Depressive Disorder Study: NTR and NESDA biobank projects.
- Author
- AJ Rush
- AT Beck
- AT Beck
- AT Hattersley
- BA Van Dijk
- BM Neale
- Brenda W J H Penninx
- C Hoekstra
- CD Spielberger
- CJL Murray
- CM Middeldorp
- CM Middeldorp
- Cornelis Kluft
- CR Cloninger
- David Sondervan
- DI Boomsma
- DI Boomsma
- Dorret I Boomsma
- DW Black
- Eco J C de Geus
- Frans G Zitman
- GJS Wilde
- Gonneke Willemsen
- GS Zubenko
- Guus Smit
- IM Marks
- J Fullerton
- JI Nurnberger Jr
- JL Min
- Johannes H Smit
- KB Wells
- KM Landman-Peeters
- LL Judd
- M Berglund
- M Piccinelli
- MM Weissman
- MR Munafo
- MT Tsuang
- MW Nash
- N Zilber
- NJ Camp
- P Holmans
- P Holmans
- P McGuffin
- Patrick F Sullivan
- PE Greenberg
- Peter Heutink
- PF Sullivan
- PH Kuo
- Piet Meijer
- PT Costa Jr
- RC Kessler
- RH Duerr
- Richard van Dyck
- RJ Klein
- RV Bijl
- SA Willis-Owen
- SF Grant
- The GAIN Collaborative Research Group
- TM Achenbach
- TM Frayling
- WE Broadhead
- Wellcome Trust Case Control Consortium
- Willem A Nolen
- Witte J Hoogendijk
- Publication venue
- Publication date
- 01/01/2008
- Field of study
To identify the genomic regions that confer risk and protection for major depressive disorder (MDD) in humans, large-scale studies are needed. Such studies should collect multiple phenotypes, DNA, and ideally, biological material that allows gene expression analysis, transcriptomic, proteomic, and metabolomic studies. In this paper, we briefly review linkage studies of MDD and then describe the large-scale nationwide biological sample collection in Dutch twin families from the Netherlands Twin Register (NTR) and in participants in the Netherlands Study of Depression and Anxiety (NESDA). Within these studies, 1862 participants with a diagnosis of MDD and 1857 controls at low liability for MDD have been selected for genome-wide genotyping by the US Foundation for the National Institutes of Health Genetic Association Information Network. Stage 1 genome-wide association results are scheduled to be accessible before the end of 2007. Genome-wide association results are open-access and can be viewed at the dbGAP web portal (http://www.ncbi.nlm.nih.gov). Approved users can download the genotype and phenotype data, which have been made available as of 9 October 2007
Altered ABA, proline and hydrogen peroxide in an Arabidopsis glutamate:glyoxylate aminotransferase mutant
- Author
- A Wingler
- AH Liepman
- AH Liepman
- AH Liepman
- B Moore
- BC Tan
- CCC Chang
- CH Foyer
- CH Foyer
- CS Zhang
- D Igarashi
- DM Rhoads
- EA Bray
- F Breusegem Van
- G Fabro
- GM Pastori
- H Moon
- IC Mori
- J Bright
- J-K Zhu
- JB Rossel
- JF Hu
- JH Zhu
- JH Zhu
- JI Moreno
- Jian-Kang Zhu
- JM Kwak
- JM Kwak
- K Asada
- K Yamaguchi-Shinozaki
- L Ball
- L Guan
- L Xiong
- L Xiong
- L Xiong
- LA Rio del
- LS Bates
- M Ishitani
- M Sagi
- MAR Milla
- MJ Fryer
- MY Jiang
- Paul E. Verslues
- PD Hare
- PE Verslues
- PE Verslues
- PM Mullineaux
- R Imai
- R Shin
- RE Sharp
- RGL op Camp den
- RR Finkelstein
- T Kiyosue
- V Pavet
- V Rai
- X Zhang
- Y-H Cho
- Y-Y Shen
- Yong-Sig Kim
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
Model-based cross-correlation search for gravitational waves from the low-mass X-ray binary Scorpius X-1 in LIGO O3 data
- Author
- Abbott R.
- Abe H.
- Acernese F.
- Ackley K.
- Adhicary S.
- Adhikari N.
- Adhikari R. X.
- Adkins V. K.
- Adya V. B.
- Affeldt C.
- Agarwal D.
- Agathos M.
- Aguiar O. D.
- Aiello L.
- Ain A.
- Ajith P.
- Akutsu T.
- Albanesi S.
- Alfaidi R. A.
- Allocca A.
- Alléné C.
- Altin P. A.
- Amato A.
- Anand S.
- Ananyeva A.
- Anderson S. B.
- Anderson W. G.
- Ando M.
- Andrade T.
- Andres N.
- Andrić T.
- Andrés-Carcasona M.
- Ansoldi S.
- Antelis J. M.
- Antier S.
- Apostolatos T.
- Appavuravther E. Z.
- Appert S.
- Apple S. K.
- Arai K.
- Araya A.
- Araya M. C.
- Areeda J. S.
- Aritomi N.
- Arnaud N.
- Arogeti M.
- Aronson S. M.
- Arène M.
- Asada H.
- Ashton G.
- Aso Y.
- Assiduo M.
- Assis de Souza Melo S.
- Aston S. M.
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- Publication venue
- 'American Astronomical Society'
- Publication date
- 16/12/2022
- Field of study
All-sky search for gravitational-wave bursts in the second joint LIGO-Virgo run
- Author
- Abadie J
- Abbott BP
- Abbott R
- Abbott TD
- Abernathy M
- Accadia T
- Acernese F
- Adams C
- Adhikari R
- Affeldt C
- Agathos M
- Agatsuma K
- Ajith P
- Allen B
- Amariutei D
- Anderson SB
- Anderson WG
- Arai K
- Arain MA
- Araya MC
- Aston SM
- Astone P
- Atkinson D
- Aufmuth P
- Aulbert C
- Aylott BE
- Babak S
- Baker P
- Ballardin G
- Ballmer S
- Barayoga JCB
- Barker D
- Barone F
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- Barrera C. Oropeza
- Barsotti L
- Barsuglia M
- Barton MA
- Bartos I
- Bassiri R
- Bastarrika M
- Basti A
- Batch J
- Bauchrowitz J
- Bauer TS
- Bebronne M
- Beck D
- Behnke B
- Bejger M
- Beker MG
- Bell AS
- Belletoile A
- Belopolski I
- Benacquista M
- Berliner JM
- Bertolini A
- Betzwieser J
- Beveridge N
- Beyersdorf PT
- Bilenko IA
- Billingsley G
- Birch J
- Biswas R
- Bitossi M
- Bizouard MA
- Black E
- Blackburn JK
- Blackburn L
- Blair D
- Bland B
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- Bock O
- Bodiya TP
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- Bondarescu R
- Bondu F
- Bonelli L
- Bonnand R
- Bork R
- Born M
- Boschi V
- Bose S
- Bosi L
- Bouhou B
- Braccini S
- Bradaschia C
- Brady PR
- Braginsky VB
- Branchesi M
- Brau JE
- Breyer J
- Briant T
- Bridges DO
- Brillet A
- Brinkmann M
- Brisson V
- Britzger M
- Brooks AF
- Brown DA
- Bueso X. Portell
- Bulik T
- Bulten HJ
- Buonanno A
- Burguet-Castell J
- Buskulic D
- Buy C
- Byer RL
- Cadonati L
- Cagnoli G
- Calloni E
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- Capano CD
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- Cepeda C
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- Charlton P
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- Chelkowski S
- Chen W
- Chen X
- Chen Y
- Chincarini A
- Chiummo A
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- Christensen N
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- Chung CTY
- Chung S
- Ciani G
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- Zucker ME
- Zucker ME
- Zweizig Jang H
- Zweizig Jkiforov A.
- Publication venue
- 'American Physical Society (APS)'
- Publication date
- 01/01/2012
- Field of study
We present results from a search for gravitational-wave bursts in the data
collected by the LIGO and Virgo detectors between July 7, 2009 and October 20,
2010: data are analyzed when at least two of the three LIGO-Virgo detectors are
in coincident operation, with a total observation time of 207 days. The
analysis searches for transients of duration < 1 s over the frequency band
64-5000 Hz, without other assumptions on the signal waveform, polarization,
direction or occurrence time. All identified events are consistent with the
expected accidental background. We set frequentist upper limits on the rate of
gravitational-wave bursts by combining this search with the previous LIGO-Virgo
search on the data collected between November 2005 and October 2007. The upper
limit on the rate of strong gravitational-wave bursts at the Earth is 1.3
events per year at 90% confidence. We also present upper limits on source rate
density per year and Mpc^3 for sample populations of standard-candle sources.
As in the previous joint run, typical sensitivities of the search in terms of
the root-sum-squared strain amplitude for these waveforms lie in the range 5
10^-22 Hz^-1/2 to 1 10^-20 Hz^-1/2. The combination of the two joint runs
entails the most sensitive all-sky search for generic gravitational-wave bursts
and synthesizes the results achieved by the initial generation of
interferometric detectors.Comment: 15 pages, 7 figures: data for plots and archived public version at
https://dcc.ligo.org/cgi-bin/DocDB/ShowDocument?docid=70814&version=19, see
also the public announcement at
http://www.ligo.org/science/Publication-S6BurstAllSky
Lawson criterion for ignition exceeded in an inertial fusion experiment
- Author
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- Acree R
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- Addis B
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- Alessi DA
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- Warner BE
- Watson J
- Watt RG
- Watts P
- Weaver J
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- Wiedwald J
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- Wisoff J
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- Wolfe J
- Wong A
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- Woodruff J
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- Wooten E
- Wootton A
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- Workman JB
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- Wu M
- Wuest C
- Wysocki FJ
- Xu H
- Yamaguchi M
- Yang B
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- Yatabe J
- Yeamans CB
- Yee BC
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- Yin L
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- Zaka F
- Ze F
- Zeiger B
- Zika M
- Zimmerman GB
- Zobrist T
- Zuegel JD
- Zylstra AB
- Publication venue
- 'American Physical Society (APS)'
- Publication date
- 06/07/2022
- Field of study
For more than half a century, researchers around the world have been engaged in attempts to achieve fusion ignition as a proof of principle of various fusion concepts. Following the Lawson criterion, an ignited plasma is one where the fusion heating power is high enough to overcome all the physical processes that cool the fusion plasma, creating a positive thermodynamic feedback loop with rapidly increasing temperature. In inertially confined fusion, ignition is a state where the fusion plasma can begin "burn propagation" into surrounding cold fuel, enabling the possibility of high energy gain. While "scientific breakeven" (i.e., unity target gain) has not yet been achieved (here target gain is 0.72, 1.37 MJ of fusion for 1.92 MJ of laser energy), this Letter reports the first controlled fusion experiment, using laser indirect drive, on the National Ignition Facility to produce capsule gain (here 5.8) and reach ignition by nine different formulations of the Lawson criterion
The composition and stability of the vaginal microbiota of normal pregnant women is different from that of non-pregnant women
- Author
- A Azargoon
- A Döderlein
- A Kalra
- A Rebbapragada
- A Suau
- A Vasquez
- B Horvath
- B Jacobsson
- B Jacobsson
- B Larsen
- B Ma
- BB Oakley
- BE Sha
- BH Yoon
- C Heinemann
- C Hernandez-Rodriguez
- CA Flynn
- CA Littell
- CA Lozupone
- CA Spiegel
- CL Maynard
- CM Mitchell
- CR Cohen
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- DA Eschenbach
- DA Eschenbach
- DA Eschenbach
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- MJ Pallen
- ML Delaney
- MR Hammerschlag
- MR Joesoef
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- N Segata
- N Sewankambo
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- O Dammann
- P Gajer
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- R Romero
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- Z Ling
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
Effect of alirocumab on mortality after acute coronary syndromes. An analysis of the ODYSSEY OUTCOMES randomized clinical trial
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- Vincendet M
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- Waites JH
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- Weissbrodt M
- Welka S
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- Westerhausen D
- Whitaker J
- White HD
- White L
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- Wiersma JJ
- Wilkins G
- Wilkinson P
- Willems FF
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- Yin W-H
- Yong H
- Yoon JH
- Younis L
- Yu Y
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- Yusoff K
- Zahger D
- Zaidman CJ
- Zainea M
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- Zhang R
- Zhang W
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- Zheleznyy V
- Zheng Y
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- Zhu H
- Zhu J
- Zirlik A
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- Zobouyan I
- Zong W
- Zrazhevsky K
- Zurakowski A
- Zuran I
- Zweiker R
- Publication venue
- 'Ovid Technologies (Wolters Kluwer Health)'
- Publication date
- 04/01/2019
- Field of study
Background: Previous trials of PCSK9 (proprotein convertase subtilisin-kexin type 9) inhibitors demonstrated reductions in major adverse cardiovascular events, but not death. We assessed the effects of alirocumab on death after index acute coronary syndrome. Methods: ODYSSEY OUTCOMES (Evaluation of Cardiovascular Outcomes After an Acute Coronary Syndrome During Treatment With Alirocumab) was a double-blind, randomized comparison of alirocumab or placebo in 18 924 patients who had an ACS 1 to 12 months previously and elevated atherogenic lipoproteins despite intensive statin therapy. Alirocumab dose was blindly titrated to target achieved low-density lipoprotein cholesterol (LDL-C) between 25 and 50 mg/dL. We examined the effects of treatment on all-cause death and its components, cardiovascular and noncardiovascular death, with log-rank testing. Joint semiparametric models tested associations between nonfatal cardiovascular events and cardiovascular or noncardiovascular death. Results: Median follow-up was 2.8 years. Death occurred in 334 (3.5%) and 392 (4.1%) patients, respectively, in the alirocumab and placebo groups (hazard ratio [HR], 0.85; 95% CI, 0.73 to 0.98; P=0.03, nominal P value). This resulted from nonsignificantly fewer cardiovascular (240 [2.5%] vs 271 [2.9%]; HR, 0.88; 95% CI, 0.74 to 1.05; P=0.15) and noncardiovascular (94 [1.0%] vs 121 [1.3%]; HR, 0.77; 95% CI, 0.59 to 1.01; P=0.06) deaths with alirocumab. In a prespecified analysis of 8242 patients eligible for ≥3 years follow-up, alirocumab reduced death (HR, 0.78; 95% CI, 0.65 to 0.94; P=0.01). Patients with nonfatal cardiovascular events were at increased risk for cardiovascular and noncardiovascular deaths (P<0.0001 for the associations). Alirocumab reduced total nonfatal cardiovascular events (P<0.001) and thereby may have attenuated the number of cardiovascular and noncardiovascular deaths. A post hoc analysis found that, compared to patients with lower LDL-C, patients with baseline LDL-C ≥100 mg/dL (2.59 mmol/L) had a greater absolute risk of death and a larger mortality benefit from alirocumab (HR, 0.71; 95% CI, 0.56 to 0.90; Pinteraction=0.007). In the alirocumab group, all-cause death declined wit h achieved LDL-C at 4 months of treatment, to a level of approximately 30 mg/dL (adjusted P=0.017 for linear trend). Conclusions: Alirocumab added to intensive statin therapy has the potential to reduce death after acute coronary syndrome, particularly if treatment is maintained for ≥3 years, if baseline LDL-C is ≥100 mg/dL, or if achieved LDL-C is low. Clinical Trial Registration: URL: https://www.clinicaltrials.gov. Unique identifier: NCT01663402
Phonon Calculations in Covalent Semiconductors using a Vector Computer
- Author
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/1985
- Field of study
SNP Linkage Analysis and Whole Exome Sequencing Identify a Novel POU4F3 Mutation in Autosomal Dominant Late-Onset Nonsyndromic Hearing Loss (DFNA15)
- Author
- A Kong
- Andrew Dewan
- BJ Keats
- Chang-Seok Ki
- E Krieger
- ED Lynch
- G Park
- G Van Camp
- Gert Vriend
- GR Abecasis
- H Li
- H Li
- Hanka Venselaar
- Hee-Jin Kim
- HK Lee
- HK Lee
- Hong-Hee Won
- J Gao
- JE Wigginton
- JI Baek
- Jong-Won Kim
- JR O’Connell
- KO Yariz
- KP Steel
- Kyoung-Jin Park
- L Erkman
- LF Ross
- M Stephens
- M Xiang
- MJ Bamshad
- NE Morton
- O Diaz-Horta
- O Vahava
- PE Leon
- RJ Pauw
- RW Collin
- S Weiss
- Sang Sun Cho
- Sung Hwa Hong
- T Walsh
- X Liu
- Publication venue
- 'Public Library of Science (PLoS)'
- Publication date
- 01/01/2013
- Field of study
Contains fulltext :
126213.pdf (publisher's version ) (Open Access)Autosomal dominant non-syndromic hearing loss (AD-NSHL) is one of the most common genetic diseases in human and is well-known for the considerable genetic heterogeneity. In this study, we utilized whole exome sequencing (WES) and linkage analysis for direct genetic diagnosis in AD-NSHL. The Korean family had typical AD-NSHL running over 6 generations. Linkage analysis was performed by using genome-wide single nucleotide polymorphism (SNP) chip and pinpointed a genomic region on 5q31 with a significant linkage signal. Sequential filtering of variants obtained from WES, application of the linkage region, bioinformatic analyses, and Sanger sequencing validation identified a novel missense mutation Arg326Lys (c.977G>A) in the POU homeodomain of the POU4F3 gene as the candidate disease-causing mutation in the family. POU4F3 is a known disease gene causing AD-HSLH (DFNA15) described in 5 unrelated families until now each with a unique mutation. Arg326Lys was the first missense mutation affecting the 3(rd) alpha helix of the POU homeodomain harboring a bipartite nuclear localization signal sequence. The phenotype findings in our family further supported previously noted intrafamilial and interfamilial variability of DFNA15. This study demonstrated that WES in combination with linkage analysis utilizing bi-allelic SNP markers successfully identified the disease locus and causative mutation in AD-NSHL
Mesoscale Dynamics in the Canary Islands Area as Observed Through Complementary Remote Sensing Techniques
- Author
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
- …