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Sequencing of 640,000 exomes identifies GPR75 variants associated with protection from obesity 期刊论文
Science, 2021
作者:  Parsa Akbari;  Ankit Gilani;  Olukayode Sosina;  Jack A. Kosmicki;  Lori Khrimian;  Yi-Ya Fang;  Trikaldarshi Persaud;  Victor Garcia;  Dylan Sun;  Alexander Li;  Joelle Mbatchou;  Adam E. Locke;  Christian Benner;  Niek Verweij;  Nan Lin;  Sakib Hossain;  Kevin Agostinucci;  Jonathan V. Pascale;  Ercument Dirice;  Michael Dunn;  Regeneron Genetics Center‡;  DiscovEHR Collaboration‡;  William E. Kraus;  Svati H. Shah;  Yii-Der I. Chen;  Jerome I. Rotter;  Daniel J. Rader;  Olle Melander;  Christopher D. Still;  Tooraj Mirshahi;  David J. Carey;  Jaime Berumen-Campos;  Pablo Kuri-Morales;  Jesus Alegre-Díaz;  Jason M. Torres;  Jonathan R. Emberson;  Rory Collins;  Suganthi Balasubramanian;  Alicia Hawes;  Marcus Jones;  Brian Zambrowicz;  Andrew J. Murphy;  Charles Paulding;  Giovanni Coppola;  John D. Overton;  Jeffrey G. Reid;  Alan R. Shuldiner;  Michael Cantor;  Hyun M. Kang;  Goncalo R. Abecasis;  Katia Karalis;  Aris N. Economides;  Jonathan Marchini;  George D. Yancopoulos;  Mark W. Sleeman;  Judith Altarejos;  Giusy Della Gatta;  Roberto Tapia-Conyer;  Michal L. Schwartzman;  Aris Baras;  Manuel A. R. Ferreira;  Luca A. Lotta
收藏  |  浏览/下载：28/0  |  提交时间：2021/07/27
Antarctic surface temperature and elevation during the Last Glacial Maximum 期刊论文
Science, 2021
作者:  Christo Buizert;  T. J. Fudge;  William H. G. Roberts;  Eric J. Steig;  Sam Sherriff-Tadano;  Catherine Ritz;  Eric Lefebvre;  Jon Edwards;  Kenji Kawamura;  Ikumi Oyabu;  Hideaki Motoyama;  Emma C. Kahle;  Tyler R. Jones;  Ayako Abe-Ouchi;  Takashi Obase;  Carlos Martin;  Hugh Corr;  Jeffrey P. Severinghaus;  Ross Beaudette;  Jenna A. Epifanio;  Edward J. Brook;  Kaden Martin;  Jérôme Chappellaz;  Shuji Aoki;  Takakiyo Nakazawa;  Todd A. Sowers;  Richard B. Alley;  Jinho Ahn;  Michael Sigl;  Mirko Severi;  Nelia W. Dunbar;  Anders Svensson;  John M. Fegyveresi;  Chengfei He;  Zhengyu Liu;  Jiang Zhu;  Bette L. Otto-Bliesner;  Vladimir Y. Lipenkov;  Masa Kageyama;  Jakob Schwander
收藏  |  浏览/下载：14/0  |  提交时间：2021/06/15
The role of anthropogenic habitats in freshwater mussel conservation 期刊论文
Global Change Biology, 2021
作者:  Ronaldo Sousa;  Dariusz Halabowski;  Anna M. Labecka;  Karel Douda;  Olga Aksenova;  Yulia Bespalaya;  Ivan Bolotov;  Juergen Geist;  Hugh A. Jones;  Ekaterina Konopleva;  Michael W. Klunzinger;  Carlos A. Lasso;  Iga Lewin;  Xiongjun Liu;  Manuel Lopes‐;  Lima;  Jon Mageroy;  Musa Mlambo;  Keiko Nakamura;  Mitsunori Nakano;  Martin Ö;  sterling;  John Pfeiffer;  Vincent Prié;  Lucas R. P. Paschoal;  Nicoletta Riccardi;  Rogé;  rio Santos;  Spase Shumka;  Allan K. Smith;  Mikhail O. Son;  Amí;  lcar Teixeira;  Frankie Thielen;  Santiago Torres;  Simone Varandas;  Ilya V. Vikhrev;  Xiaoping Wu;  Alexandra Zieritz;  Joana G. Nogueira
收藏  |  浏览/下载：18/0  |  提交时间：2021/03/29
Spatial co‐localisation of extreme weather events: a clear and present danger 期刊论文
Ecology Letters, 2020
作者:  Rosalind J. Dodd;  David R. Chadwick;  Ian M. Harris;  Adrian Hines;  Dan Hollis;  Theodoros Economou;  Dylan Gwynn‐;  Jones;  John Scullion;  David A. Robinson;  David L. Jones
收藏  |  浏览/下载：9/0  |  提交时间：2020/10/20
Observed Hemispheric Asymmetry in Stratospheric Transport Trends from 1994‐2018 期刊论文
Geophysical Research Letters, 2020
作者:  Susan E. Strahan;  Dan Smale;  Anne R. Douglass;  Thomas Blumenstock;  James W. Hannigan;  Frank Hase;  Nicholas Jones;  Emmanuel Mahieu;  Justus Notholt;  Luke D. Oman;  Ivan Ortega;  Mathias Palm;  Maxime Prignon;  John Robinson;  Matthias Schneider;  Ralf Sussmann;  Voltaire Velazco
收藏  |  浏览/下载：13/0  |  提交时间：2020/08/25
Using nature’s blueprint to expand catalysis with Earth-abundant metals 期刊论文
Science, 2020
作者:  R. Morris Bullock;  Jingguang G. Chen;  Laura Gagliardi;  Paul J. Chirik;  Omar K. Farha;  Christopher H. Hendon;  Christopher W. Jones;  John A. Keith;  Jerzy Klosin;  Shelley D. Minteer;  Robert H. Morris;  Alexander T. Radosevich;  Thomas B. Rauchfuss;  Neil A. Strotman;  Aleksandra Vojvodic;  Thomas R. Ward;  Jenny Y. Yang;  Yogesh Surendranath
收藏  |  浏览/下载：20/0  |  提交时间：2020/08/18
Consistent sociality but flexible social associations across temporal and spatial foraging contexts in a colonial breeder 期刊论文
ECOLOGY LETTERS, 2020, 23 (7) : 1085-1096
作者:  Jones, Teri B.;  Green, Jonathan A.;  Patrick, Samantha C.;  Evans, Julian C.;  Wells, Melanie R.;  Rodriguez-Malagon, Marlenne A.;  Arnould, John P. Y.
收藏  |  浏览/下载：5/0  |  提交时间：2020/05/13
Coloniality  consistency  group formation  individual behaviour  multiplex networks  social flexibility  social foraging  sociality  seabirds  
Discriminating alpha-synuclein strains in Parkinson's disease and multiple system atrophy 期刊论文
NATURE, 2020, 578 (7794) : 273-+
作者:  Senior, Andrew W.;  Evans, Richard;  Jumper, John;  Kirkpatrick, James;  Sifre, Laurent;  Green, Tim;  Qin, Chongli;  Zidek, Augustin;  Nelson, Alexander W. R.;  Bridgland, Alex;  Penedones, Hugo;  Petersen, Stig;  Simonyan, Karen;  Crossan, Steve;  Kohli, Pushmeet;  Jones, David T.;  Silver, David;  Kavukcuoglu, Koray;  Hassabis, Demis
收藏  |  浏览/下载：40/0  |  提交时间：2020/07/03

Synucleinopathies are neurodegenerative diseases that are associated with the misfolding and aggregation of alpha-synuclein, including Parkinson'  s disease, dementia with Lewy bodies and multiple system atrophy(1). Clinically, it is challenging to differentiate Parkinson'  s disease and multiple system atrophy, especially at the early stages of disease(2). Aggregates of alpha-synuclein in distinct synucleinopathies have been proposed to represent different conformational strains of alpha-synuclein that can self-propagate and spread from cell to cell(3-6). Protein misfolding cyclic amplification (PMCA) is a technique that has previously been used to detect alpha-synuclein aggregates in samples of cerebrospinal fluid with high sensitivity and specificity(7,8). Here we show that the alpha-synuclein-PMCA assay can discriminate between samples of cerebrospinal fluid from patients diagnosed with Parkinson'  s disease and samples from patients with multiple system atrophy, with an overall sensitivity of 95.4%. We used a combination of biochemical, biophysical and biological methods to analyse the product of alpha-synuclein-PMCA, and found that the characteristics of the alpha-synuclein aggregates in the cerebrospinal fluid could be used to readily distinguish between Parkinson'  s disease and multiple system atrophy. We also found that the properties of aggregates that were amplified from the cerebrospinal fluid were similar to those of aggregates that were amplified from the brain. These findings suggest that alpha-synuclein aggregates that are associated with Parkinson'  s disease and multiple system atrophy correspond to different conformational strains of alpha-synuclein, which can be amplified and detected by alpha-synuclein-PMCA. Our results may help to improve our understanding of the mechanism of alpha-synuclein misfolding and the structures of the aggregates that are implicated in different synucleinopathies, and may also enable the development of a biochemical assay to discriminate between Parkinson'  s disease and multiple system atrophy.


Protein misfolding cyclic amplification (PMCA) technology can discriminate between patients with Parkinson'  s disease and patients with multiple system atrophy on the basis of the characteristics of the alpha-synuclein aggregates in the cerebrospinal fluid.


  
Embryonal precursors of Wilms tumor 期刊论文
SCIENCE, 2019, 366 (6470) : 1247-+
作者:  Coorens, Tim H. H.;  Treger, Taryn D.;  Al-Saadi, Reem;  Moore, Luiza;  Tran, Maxine G. B.;  Mitchell, Thomas J.;  Tugnait, Suzanne;  Thevanesan, Christine;  Young, Matthew D.;  Oliver, Thomas R. W.;  Oostveen, Minou;  Collord, Grace;  Tarpey, Patrick S.;  Cagan, Alex;  Hooks, Yvette;  Brougham, Mark;  Reynolds, Ben C.;  Barone, Giuseppe;  Anderson, John;  Jorgensen, Mette;  Burke, G. A. Amos;  Visser, Johannes;  Nicholson, James C.;  Smeulders, Naima;  Mushtaq, Imran;  Stewart, Grant D.;  Campbell, Peter J.;  Wedge, David C.;  Martincorena, Inigo;  Rampling, Dyanne;  Hook, Liz;  Warren, Anne Y.;  Coleman, Nicholas;  Chowdhury, Tanzina;  Sebire, Neil;  Drost, Jarno;  Saeb-Parsy, Kourosh;  Stratton, Michael R.;  Straathof, Karin;  Pritchard-Jones, Kathy;  Behjati, Sam
收藏  |  浏览/下载：10/0  |  提交时间：2020/02/17
Recurrent intragenic rearrangements of EGFR and BRAF in soft tissue tumors of infants 期刊论文
NATURE COMMUNICATIONS, 2018, 9
作者:  Wegert, Jenny;  Vokuhl, Christian;  Collord, Grace;  Velasco-Herrera, Martin Del Castillo;  Farndon, Sarah J.;  Guzzo, Charlotte;  Jorgensen, Mette;  Anderson, John;  Slater, Olga;  Duncan, Catriona;  Bausenwein, Sabrina;  Streitenberger, Heike;  Ziegler, Barbara;  Furtwaengler, Rhoikos;  Graf, Norbert;  Stratton, Michael R.;  Campbell, Peter J.;  Jones, David T. W.;  Koelsche, Christian;  Pfister, Stefan M.;  Mifsud, William;  Sebire, Neil;  Sparber-Sauer, Monika;  Koscielniak, Ewa;  Rosenwald, Andreas;  Gessler, Manfred;  Behjati, Sam
收藏  |  浏览/下载：9/0  |  提交时间：2019/11/27