45 research outputs found
Nuclear power and coastal birds: predicting the ecological consequences of warm-water outflows
- Author
- Anders
- Atkinson
- Atkinson
- Azouzi
- Bachelet
- Bamber
- Beukema
- Beukema
- Beukema
- Beukema
- Blake
- Bolam
- Boyden
- Bryant
- Burton
- Clark
- Clement Garcia
- Cramp
- Crema
- De Jonge
- De Wilde
- Del Hoyo
- Dit Durell
- Dit Durell
- Dit Durell
- Dobrzycka-Krahel
- Duffy
- Ens
- Ernest
- Evans
- Fernand
- Ferns
- Finlay
- Fritzsche
- Goss-Custard
- Goss-Custard
- Grimm
- Hartmann-Schröder
- Hiddink
- Honkoop
- Honkoop
- Honkoop
- Honkoop
- Hummel
- Hylleberg
- IPCC
- Jansen
- Johnson
- Julie Bremner
- Kalejta
- Kater
- Kersten
- Kirkwood
- Kuwae
- Kuwae
- Langston
- Lincoln
- Little
- Lourenço
- Mathot
- Meadows
- Meininger
- Mettam
- Musk
- Musk
- Musk
- Musk
- Nagy
- Olney
- Ozoh
- Paterson
- Philippart
- Pimm
- Quaintenne
- Raffaelli
- Richard A. Stillman
- Robinson
- Rodney M. Forster
- Rosenberg
- Scheiffarth
- Schiel
- Sitters
- Smart
- Smith
- Stillman
- Stillman
- Stillman
- Stillman
- Stillman
- Stillman
- Stillman
- Stips
- Suh
- Thompson
- Tiago Silva
- Triplet
- Turpie
- Van der Wal
- Warwick
- Warwick
- Wilson
- World Nuclear Association
- Zwarts
- Zwarts
- Publication venue
- 'Elsevier BV'
- Publication date
- 06/10/2016
- Field of study
Local alteration of species abundance in natural communities due to anthropogenic impacts may have secondary, cascading effects on species at higher trophic levels. Such effects are typically hard to single out due to their ubiquitous nature and, therefore, may render impact assessment exercises difficult to undertake. Here we describe how we used empirical knowledge together with modelling tools to predict the indirect trophic effects of a future warm-water outflow on populations of shorebirds and wildfowl. Of the main potential benthic prey used by the birds in this instance, the clam Macoma balthica was the only species suspected to be adversely affected by a future increase of temperature. Various scenarios of decreases in prey energy content, simulating various degrees of temperature increase, were tested using an individual-based model, MORPH, in order to assess the effects on birds. The survival and body condition of eight of the 10 bird species modelled, dunlin, ringed plover, turnstone, redshank, grey plover, black-tailed godwit, oystercatcher and shelduck were shown to be not influenced even by the most conservative prey reduction scenarios. Most of these species are known to feed primarily on polychaete worms. For the few bivalve-feeding species, the larger size-classes of polychaete worms were predicted to be a sufficient alternative food. Only knot was predicted to have a lower survival under the two worst case scenario of decreased M. balthica energy content. We believe that this is the first time such predicted cascade effects from a future warm-water outflow have been shown
Finishing the euchromatic sequence of the human genome
- Author
- . Haifeng
- . Magner
- . Yin
- Abbott Scott
- Abbott-Ozersky Amanda
- Abdellah Zahra
- Abouelleil Amr
- Abrajano Anne
- Adachi Tamami
- Adam Catherine
- Adams Charles Q.
- Adamson Aaron
- Adekoya Emmanuel
- Adio-Oduola Babajide
- Aerts Andrea
- Aggarwal Arun
- Ahmadi Alireza
- Ahmed Shahana
- Aimable Matthew
- Ainscough Rachael
- Ait-Zahra Mostafa
- Aizu Tomoyuki
- Alcivare Dana
- Alegria Michelle
- Ali Alla
- Ali Johar
- Allegria-hartmann Michelle
- Alleman Jennifer
- Allen Carlana C.
- Allen Heather
- Allen Nicole R.
- Allen Susan
- Allen Thaddeus
- Almeida Jeff
- Almond Claire
- Alsbrooks Stephen L.
- Altherr Michael R.
- Amaratunge Harshinie C.
- Ambler Andrew
- Ambrose Karen
- Ambrose Kerrie
- Amemiya Chris
- Amico-Keller Gina
- Amin Amita G.
- Anderson Mechele
- Anderson Scott
- Anderson Scott
- Andora Janice
- Andredesz Carol
- Andrew Robert
- Andrews Dan
- Andrews Daniel
- Andrews Neil
- Andrews Stephanie
- Andriese Tim
- Anthouard Véronique
- Antonarakis Stylianos E.
- Anyalebechi Vivian
- Aoki Norie
- Apostolou Sinoula
- Apweiler Eva
- Arachchi Harindra
- Arai Rie
- Arbery Hazel
- Arcaina Marlon
- Arcaina Terisita
- Archer Beth
- Arellano Andre
- Arellano-Jones Perry
- Armbruster Jeff
- Armstrong Jon
- Arredondo Dilrukshi P.
- Arredondo Heather Hope
- Artiguenave François
- Asakawa Shuichi
- Asakawa Teruyo
- Ash Gareth
- Ashcroft Kevin
- Ashurst Jennifer
- Ashwell Robert
- Ashworth Linda K.
- Aslanidis Cara
- Asomugha Chinwe O.
- Asuncion Lawreen
- Atkin Deborah
- Atkinson Andrea
- Atkinson Barry
- Attix Cristina
- Attwood John
- Aubin Keith
- Auger Katherine
- Austin Shannon Michelle
- Avila Aaron
- Avis Terry
- Ayele Mulu
- Babayan Primo
- Babbage Anne
- Babbage Sarah
- Bach Phil
- Bachatsang Pasang
- Bacon Joanne
- Badri Hummy
- Baertsch Robert
- Bagguley Claire
- Bailey Jonathan
- Bajorek Eva
- Baker Andrew
- Baker Dan
- Baker M.
- Baker Richard
- Bakis Michele
- Baldwin Jennifer
- Banda Michael
- Banerjee Ruby
- Bao Jingyue
- Bao Qiyu
- Bao Weidong
- Bao Weidong
- Baptiste Pertrice
- Barbaria Joseph A.
- Barbe Valérie
- Bardill Simon
- Barker Daniel
- Barker Darren
- Barker Gary
- Barlow Karen
- Baron Laurent
- Barrett Anika
- Bartlett Rebecca
- Basham Victoria
- Bashman David
- Basu Suba
- Bateman Alex
- Bates Karen
- Battles John
- Batzer Mark
- Baumgart Cornelia
- Baumohl Jason
- Baynes Caroline
- Bayul Tashi
- Beall Keith
- Beard Lisa
- Beard Susan
- Beare David
- Beasley Alastair
- Beasley Helen
- Beasley Oliver
- Beaucham Leslie
- Beaudet Arthur
- Beck Alfred
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- Belter Edward A., Jr.
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- Benner William
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- Bercovitz John
- Berghoff Amy
- Bergmann Anne
- Berkowicz Nicolas
- Berks Mary
- Berks Michael
- Bethel Graeme
- Beugelsdijk Tony J.
- Bhakta Rita
- Bhuchar Venita
- Bi Shihua
- Bian Xuemeng
- Bieri Tamberlyn
- Bimage Kesha E.
- Bird Christine
- Birditt Brian
- Birney Ewan
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- Birren Bruce
- Bissell Helen
- Biswalo Kaneza
- Bituin Aleksandr
- Black Stacey
- Blackburne-Maze Suzanne
- Blair Jessica Anne
- Blakey Sarah
- Blanks Tia
- Blasiar Darin
- Blazej Robert
- Blitshsteyn Berta
- Blomstrom David B.
- Bloom Scott
- Bloom Toby
- Blumer Heather
- Blye Jason
- Blyth Peter R.
- Blöcker Helmut
- Boatright Elizabeth
- Boehm John
- Boen Juanan
- Boguslavskiy Leonid
- Bolton Christel
- Bolund Lars
- Bondoc Marnel
- Bonfield James
- Bonnett Ralph
- Bonnin David
- Border Richard
- Borowsky Mark
- Borzym Katja
- Boukhgalter Boris
- Bowen Eric
- Bradley Amanda
- Bradshaw-Cordum Holly
- Brady Nicola
- Brandriff Brigitte F.
- Brannon Wade
- Branscomb Elbert
- Bray Jason
- Bray-Allen Sarah
- Brettin Thomas
- Bridgeman Anne
- Bridgers Michael
- Brimhall Angela K.
- Brokstein Peter
- Brook Jonathan
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- Budd Claire
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- Cahill Patrick
- Cai Tianjing
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- Cairns Murray
- Calderon Eliana
- Callen David F.
- Camarata Jody
- Camire David
- Camm Nick
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- Campo Kevin
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- Cao Ting
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- Carriere Jason
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- Chen Yiyu
- Chen Zhu
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- Cheng Zhihua
- Chertkov Olga
- Cheshatsang Yama
- Chi Cheng
- Chi Han C.
- Chillingworth Neil
- Chin Sylvia
- Chinn Corey
- Chinwalla Asif
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- Christensen Mari
- Christopoulos Constantine
- Chu Joseph
- Chui Connie
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- Clarke Adrian
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- Clee Chris
- Clegg Shelia
- Clerc Blankenburg Kerstin Petra
- Cleveland David
- Clifford Karen
- Clifton Sandra W.
- Coates Julia
- Cobley Victoria
- Cockrell Raynard
- Coffey Alison
- Cofield Jackie
- Coggill Penelope
- Cohn Judith D.
- Colayco Rick
- Cole Lotte
- Collier Rachael
- Collings Simon
- Collins Francis S.
- Collins John
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- Collymore Al
- Colman Louise
- Combs Jessie
- Comstock Robin
- Cong Bin
- Conner Richard
- Connolly Anthony
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- Considine Tony
- Constance Doug
- Cook April
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- Cooke Patrick
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- Copeland Alex
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- Copsey Teresa
- Corby Nicole
- Cordes Matt
- Cordray Rebecca
- Cornell Christine
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- Cornell Ruth
- Corum Ben
- Cottage Amanda
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- Coulson Alan
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- Cox Tony
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- Coyle Marcus D.
- Craig Matthew
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- Crawford Amanda L.
- Crawley Matt
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- Crespeau Hervé
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- Critchlow Terrance
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- Cummings Paul
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- Curran Adam
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- Cutts Jeffrey
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- Da Silva Corinne
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- Daum Christopher
- David Robert
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- Davies Jonathon
- Davies Joy
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- Davis Clay
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- Davis John
- Davis Matthew
- Davy-Carroll Latarsha
- Dawoe Tenzin
- Dawson Elisabeth
- De Anda Claudia
- De Latorre Andrea
- Deadman Rebecca
- Dean Peter
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- Deere Kerry
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- Dehal Paramvir
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- Deramo Christine
- Desai Anu
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- Devlin Laurie
- Dewar Ken
- Dhami Pawandeep
- Dhongsar Chemey
- Dias Jennifer
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- Dietz-Band Jeanne
- Digennaro Richard
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- Dockree Catherine
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- Fraser David
- Frazier Marvin
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- Frost Jackie
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- Garcia Emilio
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- Gatland Leigh
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- Georgescu Anca
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- Glithero Rebecca
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- Gnerre Sante
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- Golinveaux Kristen
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- Gong Guanghui
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- Hashimoto Etsuko
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- Hawkins Ebere Sylvia Onyirioha
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- Hawley Kellie
- Haydu Lauren
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- Heath Paul
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- Hepa Victor
- Herd Tim
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- Herseim Allyson
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- Hillier LaDeana
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- Hitchens Matthew Edward
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- Hodgson David
- Hoffman Susan M.G.
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- Hogues Marilyn E.
- Holden Jane
- Holdgate Janet
- Hollaway Mara
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- Holmes Andrea
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- Hood Leroy
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- Hou Xiaodi
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- Howard Stephanie R.
- Howden Philip
- Howe Kevin
- Howell Gareth
- Howell Latoya Lynette
- Howells Sally Lucinda
- Hsu Fan
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- Huang Wei
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- Huber James W.
- Huckle Elizabeth
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- Hunt Sarah
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- Hupman Matt
- Huynh Sandy
- Hyde David
- Hynds Christopher
- Idlebird Devincent G.
- Iliev Ilian
- Imbro Paula
- Imo Kelvin C.
- Inacio Nicole
- Inagaki Naomi
- Ince Michael
- Ingram Drew
- Inoue Shuuji
- Isak Amber
- Isherwood Judith
- Ishibashi Akiko
- Ishikawa Sabine K.
- Ishizaki Hinako
- Isozaki Emi
- Israni Sanjay
- Ito Fumiaki
- Ito Noriko
- Itoh Takehiko
- Iwakawa Shinobu
- Iwatate Mariko
- Iwatsu Mikiko
- Iyer Vivek
- Izatt Janet
- Izmajlowicz Monica
- Izumiyama Tomohiro
- Jacintho Mark
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- Jackson Terri
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- Jaeger Sara
- Jaffe David B.
- Jahn Niels
- Jaklevic Joseph
- Jaklevic Michael
- James Kent W.
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- Jarek Michael
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- Jenkins Lee
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- Jewett Phillip E.
- Jia Jia
- Jia Jia
- Jia Nan
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- Jiang Lu
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- Kou Zhaohui
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- Madabhushi Ramki
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- Murayama Yuji
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- Nusbaum Chad
- Nwaokelemeh Ogechi O.
- Nwokenkwo Stanley
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- O\u27Donovan Daniel
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- O\u27Loughlin Jennifer
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- Oliver Hayley
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- Omotosho Bamidele
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- Sonnhammer Erik
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- Svatek Amanda F.
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- Taudien Stefan
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- Taylor Tineace R.
- Taylor Todd Duane
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- Togashi Naoko
- Tomizawa Iori
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- Wright Rita A.
- Wu Chungen
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- Yao Zhijian
- Yao Zhijian
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- Ye Chen
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- Yun Rui
- Zainoun Joanne
- Zembeck Lisa
- Zeng Yixin
- Zhai Dong
- Zhan Guoping
- Zhang Bo
- Zhang Caimin
- Zhang Fengmei
- Zhang Guangyu
- Zhang Guohua
- Zhang Guohua
- Zhang Haiqing
- Zhang Haiqing
- Zhang Haiqing
- Zhang Hongbo
- Zhang Hongbo
- Zhang Jingjing
- Zhang Jingjing
- Zhang Jingkun
- Zhang Jiuchun
- Zhang Jiuchun
- Zhang Lanzhi
- Zhang Li
- Zhang Li
- Zhang Meihua
- Zhang Meng
- Zhang Ming
- Zhang Qing
- Zhang Ruhua
- Zhang Shaojie
- Zhang Tiezhen
- Zhang Wei
- Zhang Wei
- Zhang Xianglin
- Zhang Xianglin
- Zhang Xiaoliang
- Zhang Xiuqing
- Zhang Yan
- Zhang Yi
- Zhang Yilin
- Zhang Yilin
- Zhang Ying
- Zhang Yuansen
- Zhang Yuzhi
- Zhang Zhengdong
- Zhao Hongmei
- Zhao Lijian
- Zhao Shenru
- Zhao Zhijing
- Zhen Zhicheng
- Zheng Haibo
- Zhong Ming
- Zhou Carol
- Zhou Haixia
- Zhou Jianling
- Zhou Nannan
- Zhou Xinfeng
- Zhou Yan
- Zhou Yang
- Zhou Yi
- Zhu Bingying
- Zhu Bofeng
- Zhu Fenghua
- Zhu Genfeng
- Zhu Genfeng
- Zhu Miao
- Zhu Ning
- Zhu Yongge
- Zhu Zhen
- Zhuang Shitao
- Zierten Deborah
- Zimmer Andrew
- Zody Michael C.
- Zollo Massimo
- Zorrilla Sara E.
- Zuo Lin
- Publication venue
- LSU Digital Commons
- Publication date
- 21/10/2004
- Field of study
The sequence of the human genome encodes the genetic instructions for human physiology, as well as rich information about human evolution. In 2001, the International Human Genome Sequencing Consortium reported a draft sequence of the euchromatic portion of the human genome. Since then, the international collaboration has worked to convert this draft into a genome sequence with high accuracy and nearly complete coverage. Here, we report the result of this finishing process. The current genome sequence (Build 35) contains 2.85 billion nucleotides interrupted by only 341 gaps. It covers ∼99% of the euchromatic genome and is accurate to an error rate of ∼1 event per 100,000 bases. Many of the remaining euchromatic gaps are associated with segmental duplications and will require focused work with new methods. The near-complete sequence, the first for a vertebrate, greatly improves the precision of biological analyses of the human genome including studies of gene number, birth and death. Notably, the human enome seems to encode only 20,000-25,000 protein-coding genes. The genome sequence reported here should serve as a firm foundation for biomedical research in the decades ahead
31st Annual Meeting and Associated Programs of the Society for Immunotherapy of Cancer (SITC 2016) : part two
- Author
- Abassi Yama
- Abelin Jennifer G
- Abolhalaj Milad
- Abraham Tara S
- Adam Ammar
- Adams David
- Adams Homer
- Adams Sarah F
- Adamus Tomasz
- Addepalli Murali
- Addepalli Murali
- Adjei Alex A
- Agapova Larissa
- Agarwala Sanjiv
- Ager Casey
- Aggarwal Charu
- Agnello Giulia
- Agudo Judith
- Aguilar Ethan G
- Aguilera Todd
- Ahamadi Malidi
- Ahn Yong-Oon
- Ahrens Eric T
- Aizer Ayal
- Ajina Reham
- Akerley Wallace
- Al-Muftah Mariam
- Albershardt Tina C
- Albershardt Tina C
- Albrekt Ann-Sofie
- Alekar Shilpa
- Alemany Ramon
- Alemany Ramon
- Alexander Brian
- Allbritton Omaira
- Allen Clint T
- Alley Evan W
- Allison James
- Allison James
- Allison James
- Alston Tesha
- Alt Jürgen
- Alters Susan
- Amatulli Michael
- Anand Snjezana
- Anand Snjezana
- Anand Snjezana
- Anderson Clark
- Anderson Mark
- Andersson Bengt
- Andre Pascale
- Andtbacka Robert H I
- Andtbacka Robert H I
- Angiuoli Sam
- Ansari Tameem
- Anthony Scott
- Antonarakis Emmanuel S
- Antonia Scott J
- Anwar Firoz
- Aquino-Michaels Keston
- Archer Jacob F
- Arina Ainhoa
- Armand Philippe
- Armenta Paul
- Armet Caroline M
- Arnoux Thomas
- Ascarateil Stephane
- Askmyr David
- Atkins Michael
- Atkins Michael B
- Atkinson Victoria
- Au Katrina
- Autio Karen A
- Awad Mark
- Bagarazzi Mark
- Bai Dina
- Baia Gilson
- Baird Jason
- Bajaj Anshika
- Balatoni Timea
- Balboni Tracy
- Balch Leslie
- Bang Andrew
- Bao Riyue
- Bao Yangyi
- Bao Yangyi
- Barakat David
- Barberi Theresa
- Barker Christopher A
- Barnea Eytan
- Barras David
- Bartkowiak Todd
- Bartlett David
- Bartlett David
- Bartlett David
- Bartlett David
- Barton Sunjay M
- Barve Minal
- Bauer Todd
- Bauer Todd W
- Bauman Julie
- Baumgaertner Petra
- Bauml Joshua
- Beceren-Braun Figen
- Beck Kristen
- Becker Annette
- Beckers Johannes
- Beckett Michael A
- Bedognetti Davide
- Bedognetti Davide
- Bedognetti Davide
- Bell Bryan
- Bell Charles J M
- Bell Peter
- Beltran Pedro
- Bender Lewis H
- Bender Steven
- Bennett Mark K
- Benz Steven
- Bera Tapan
- Berglund Peter
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- Berkey Sara
- Bernatchez Chantale
- Berry John S
- Berzofsky Jay A
- Bhardwaj Nina
- Bian Zhen
- Bianco Alberto
- Biediger Ronald J
- Bifulco Carlo
- Bigley Alison
- Bingham Patrick
- Biniszkiewicz Detlev M
- Bischoff Helge
- Blake Zoe
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- Blakely Collin
- Blazar Bruce R
- Blogowski Wojciech
- Bloom Anja C
- Boehm Jesse
- Bokovanov Vladimir
- Bommareddy Praveen K
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- Bommareddy Praveen K
- Booth Jamie
- Bornschlegl Svetlana
- Bose Nandita
- Bossenmaier Birgit
- Boughorbel Sabri
- Boyer Jean
- Bramante Simona
- Branstetter Daniel
- Brech Dorothee
- Brenin David
- Broaddus V. C
- Brockstedt Dirk G
- Brockstedt Dirk G
- Brody Joshua
- Bronson Roderick
- Brooks Alan
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- Broucek Joseph
- Brown Alice
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- Brown Gail L
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- Bruce Jeffrey N
- Brunet Laura R
- Bruno Tullia C
- Bryan Jennifer
- Bryant Richard
- Buchbinder Elizabeth
- Bucsek Mark
- Budhu Sadna
- Budhu Sadna
- Budkowska Marta
- Bueno Raphael
- Buettner Florian
- Buettner Nico
- Bullock Kim
- Bullock Kim
- Burova Elena
- Burrill Joel
- Bussler Holm
- Butterfield Lisa H
- Butterfield Lisa H
- Byrne-Steele Miranda
- Cagney Daniel
- Calderon Hugo
- Callahan Margaret K
- Campesato Luis F
- Campogan Dwayne
- Cao Felicia
- Capasso Cristian
- Capasso Cristian
- Caplazi Patrick
- Cappuccini Federica
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- Carlino Matteo S
- Carpi Sara
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- Castellini Laura
- Cathomas Richard
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- Cauwenberghs Sandra
- Caux Christophe
- Cebon Jonathan S
- Ceccarelli Michele
- Celis Esteban
- Cerignoli Fabio
- Cerullo Vincenzo
- Cerullo Vincenzo
- Cervera-Carrascón VÃctor
- Cesareni Gianni
- Cha John
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- Cha John
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- Chan Ivan
- Chan Leo
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- Chang Joe
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- Chang Thomas
- Chanuc Fabien
- Chapelin Fanny
- Chaplin Jenny
- Chappel Scott C
- Charych Deborah H
- Charych Deborah H
- Chaudhuri Amitabha
- Chaussabel Damien
- Chen Ada
- Chen Ada
- Chen Gang
- Chen Jason
- Chen Jason
- Chen Xiaomu
- Chen Xin
- Chen Xiufen
- Chen Yu
- Chen Yu
- Chenchik Alex
- Chheda Zinal
- Chiang Eugene
- Chikina Maria
- Chittenden Thomas
- Chiu Hsiling
- Cho Charles
- Chongyung Fang
- Chou Margaret
- Choueiri Toni K
- Choy Carmen
- Clark Joseph I
- Clavijo Paul E
- Clifton Guy T
- Clynes Raphael
- Cobbold Mark
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- Coder Brandon
- Coffman Robert L
- Cohen Cyrille
- Cohen Ezra E W
- Cohen Roger
- Colen Rivka
- Colevas A. D
- Collins Natalie
- Colrain Jillian
- Coltharp Carla
- Concha-Benavente Fernando
- Connolly Eileen P
- Conwell Darwin
- Conwell Darwin
- Corrales Leticia P
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- Coukos George
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- Coussens Lisa M
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- Craggs Graham
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- Cron Kyle R
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- Crooks James
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- Crowder Robert
- Cruickshank Scott
- Csuka Orsolya
- Curbishley Stuart
- Curiel Tyler
- Curran Emily
- Curran Michael
- Curti Brendan
- Curti Brendan
- Da Costa Andre
- Dai Fu
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- Dalgleish Angus
- Dalvie Deepak
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- Daud Adil
- David Justin M
- Davies Bronwyn
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- de Gruijl Tanja
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- De Maeseneire Coraline
- De Sanctis Francesco
- de Silva Suresh
- Deacon Donna
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- DeBenedette Mark
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- Declerck Paul
- Decock Julie
- Decock Julie
- DeFalco Jeff
- Dela Cruz Filemon
- Delgoffe Greg
- Delgoffe Greg M
- Delgoffe Greg M
- Delgoffe Greg M
- Delogu Lucia
- Delorenzi Mauro
- Demaria Sandra
- Demaria Sandra
- Deng Liang
- Deng Weiwen
- Deng Wentao
- Denies Sofie
- Denis Caroline
- Desbien Anthony L
- deVries Michele
- Dhupkar Pooja
- Diab Adi
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- Diaz Luis
- DiCostanzo AriCeli
- Diede Scott J
- Dietz Allan B
- Dillhoff Mary
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- Dobkin Julie
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- Dolegowska Barbara
- Doleschall Zoltan
- Doman Thompson
- Dominguez George
- Donahue Renee
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- Dorsey Frank C
- Dovedi Simon
- Downs-Canner Stephanie
- Drake Charles
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- Driessens Gregory
- Driscoll Kyla
- Druker Brian J
- Dubensky Thomas W
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- Dudimah Duafalia
- Duff Susan
- Dumontet Charles
- Dunai Cordelia
- Dunai Cordelia
- Dutcher Janice P
- Duttagupta Priyanka
- Duvvuri Uma
- Dyson Mike
- D’Apuzzo Massimo
- Ebner Peggy
- Edwards Robert
- Edwards Robert P
- Edwards Robert P
- Eickhoff Jens
- Eisenhower Mary
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- El Alaoui Said
- Eles Klara
- Ellies Lesley
- Elnaggar Omar
- Elvecrog James
- Emberley Ethan
- Emerling Daniel
- Eng Charis
- Engelhard Victor H
- English Jessie
- Enstrom Amanda
- Eremeev Artem
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- Eriksson Emma
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- Falchook Gerald
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- Fantini Massimo
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- Faustman Denise
- Fa’ak Faisal
- Fa’ak Faisal
- Femel Julia
- Feng JunLi
- Feng Yan
- Feng Zipei
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- Fox Bernard
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- Francis Julie-Ann
- Frangou Costa
- Franklin Marilyn
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- Frey Alan
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- Fromm George
- Früh Martin
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- Fuertes Marraco Silvia A
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- Fuhrmann Steven
- Fukaya Satoshi
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- Fuoco Claudia
- Fusciello Manlio
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- Gabrail Nashat
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- Gajewski Thomas F
- Gajewski Thomas F
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- Galeassi Nadejda
- Gamble Alicia
- Gamble Alicia
- Gameiro Sofia
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- Gandhi Anita
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- Gardner Kellie
- Gartrell Robyn
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- Gasmi Billel
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- Gaughan Elizabeth
- Gauthier Audrey
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- Geissler Michael
- Gergel Ivan
- Geukens Nick
- Gfeller David
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- Ghisoli Maurizio
- Giaccia Amato
- Gibney Geoffrey
- Giffin Louise
- Gillies Stephen D
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- Gladstone Douglas
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- Gnad-Vogt Ulrike
- Godwin John
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- Gooding William
- Goodman Reid
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- Greenberg Norman
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- Griesinger Frank
- Grigoryeva Olga
- Grigsby Iwen
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- Zeng Weiping
- Zeng Xue
- Zha Yuanyuan
- Zhang Danhui
- Zhang Jing
- Zhang Ping
- Zhang Qifang
- Zhang Shannon S
- Zhang Theresa
- Zhang Winter
- Zhang Yanping
- Zhao Fei
- Zhao Leyna
- Zhao Xingli
- Zheng Lianxing
- Zheng Wenxin
- Zheng Xianxian
- Zheng Yi
- Zhong Hong
- Zhou Li
- Zhou Xiangjun
- Zippelius Alfred
- Zloza Andrew
- Zloza Andrew
- Zloza Andrew
- Zloza Andrew
- Zloza Andrew
- Zou Jun
- Zuba-Surma Ewa
- Zubkova Olga
- Zureikat Amer
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/2016
- Field of study
Background
The immunological escape of tumors represents one of the main ob- stacles to the treatment of malignancies. The blockade of PD-1 or CTLA-4 receptors represented a milestone in the history of immunotherapy. However, immune checkpoint inhibitors seem to be effective in specific cohorts of patients. It has been proposed that their efficacy relies on the presence of an immunological response. Thus, we hypothesized that disruption of the PD-L1/PD-1 axis would synergize with our oncolytic vaccine platform PeptiCRAd.
Methods
We used murine B16OVA in vivo tumor models and flow cytometry analysis to investigate the immunological background.
Results
First, we found that high-burden B16OVA tumors were refractory to combination immunotherapy. However, with a more aggressive schedule, tumors with a lower burden were more susceptible to the combination of PeptiCRAd and PD-L1 blockade. The therapy signifi- cantly increased the median survival of mice (Fig. 7). Interestingly, the reduced growth of contralaterally injected B16F10 cells sug- gested the presence of a long lasting immunological memory also against non-targeted antigens. Concerning the functional state of tumor infiltrating lymphocytes (TILs), we found that all the immune therapies would enhance the percentage of activated (PD-1pos TIM- 3neg) T lymphocytes and reduce the amount of exhausted (PD-1pos TIM-3pos) cells compared to placebo. As expected, we found that PeptiCRAd monotherapy could increase the number of antigen spe- cific CD8+ T cells compared to other treatments. However, only the combination with PD-L1 blockade could significantly increase the ra- tio between activated and exhausted pentamer positive cells (p= 0.0058), suggesting that by disrupting the PD-1/PD-L1 axis we could decrease the amount of dysfunctional antigen specific T cells. We ob- served that the anatomical location deeply influenced the state of CD4+ and CD8+ T lymphocytes. In fact, TIM-3 expression was in- creased by 2 fold on TILs compared to splenic and lymphoid T cells. In the CD8+ compartment, the expression of PD-1 on the surface seemed to be restricted to the tumor micro-environment, while CD4 + T cells had a high expression of PD-1 also in lymphoid organs. Interestingly, we found that the levels of PD-1 were significantly higher on CD8+ T cells than on CD4+ T cells into the tumor micro- environment (p < 0.0001).
Conclusions
In conclusion, we demonstrated that the efficacy of immune check- point inhibitors might be strongly enhanced by their combination with cancer vaccines. PeptiCRAd was able to increase the number of antigen-specific T cells and PD-L1 blockade prevented their exhaus- tion, resulting in long-lasting immunological memory and increased median survival
Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.
- Author
- Ahmed Munaza
- Aitken Stuart
- Aitman Timothy
- Akawi Nadia
- Al Turki Saeed
- Alachkar Hana
- Ali Sonia
- Allen Hana Lango
- Allen Louise
- Allsup David
- Alvi Mohsan
- Ambegaonkar Gautum
- Ambridge Kirsty
- Anderson Carl
- Anderson Julie
- Anjum Uruj
- Anney Richard
- Antony Dinu
- Antrobus Richard
- Archer Hayley
- Armstrong Ruth
- Armstrong Ruth
- Arno Gavin
- Artigas Maria Soler
- Arumugakani Gururaj
- Ashford Sofie
- Astle William
- Attwood Antony
- Austin Steve
- Awada Jana
- Ayub Muhammad
- Bacchelli Chiara
- Bakchoul Tamam
- Balasubramaniam Senduran
- Balasubramanian Meena
- Banka Siddharth
- Baralle Diana
- Bariana Tadbir K.
- Barnicoat Angela
- Barrett Daniel M.
- Barrett Jeffrey C.
- Barrett Jeffrey C.
- Barroso Inês
- Batstone Paul
- Baty David
- Baxendale Helen
- Bayzetinova Tanya
- Beales Phil
- Bennett Chris
- Bennett David
- Bentham Jamie
- Berg Jonathan
- Bernhard Birgitta
- Bethune Claire
- Bevan A. Paul
- Bhattacharya Shoumo
- Bibi Shahnaz
- Birney Ewan
- Bitner-Glindzicz Maria
- Bitner-Glindzicz Maria
- Blackwood Douglas
- Blair Edward
- Bleda Marta
- Blyth Moira
- Bobrow Martin
- Bochukova Elena
- Boggard Harm
- Bohanna David
- Bolton Patrick
- Bolton-Maggs Paula
- Booth Claire
- Bounds Rebecca
- Bourdon Louise
- Bourn David
- Boustred Chris
- Bradley John R.
- Bradley Lisa
- Brady Angela
- Brady Angie
- Breen Gerome
- Brent Simon
- Brewer Carole
- Brown Matthew
- Browning Michael
- Brunstrom Kate
- Bryant Emily
- Bryson Christine
- Bunyan David J.
- Burn John
- Burns Siobhan
- Calissano Mattia
- Calleja Paul
- Canham Natalie
- Canham Natalie
- Carmichael Jenny
- Carss Keren
- Carss Keren
- Carss Keren J.
- Carvill Gemma L.
- Castle Bruce
- Caulfield Mark
- Chalmers Elizabeth
- Chandler Kate
- Chandra Anita
- Chatterjee Krishna
- Chatzimichali Elena
- Chen Lu
- Chinnery Patrick
- Chitre Manali
- Church Colin
- Ciampi Antonio
- Cilliers Deirdre
- Cirak Sebhattin
- Clapham Peter
- Clarke Angus
- Clasper Susan
- Clayton Stephen
- Clayton-Smith Jill
- Clayton-Smith Jill
- Clement Emma
- Clement Gail
- Clements-Brod Naomi
- Clowes Virginia
- Clowes Virginia
- Coates Andrea
- Coates Guy
- Coghlan Gerry
- Cole Trevor
- Colgiu Irina
- Collier David
- Collins Amanda
- Collins Peter
- Collinson Morag N.
- Connell Fiona
- Cooper Nichola
- Cooper Nicola
- Cosgrove Catherine
- Cox Helen
- Cox Tony
- Craddock Nick
- Creaser-Myers Amanda
- Cresswell Lara
- Crooks Lucy
- Cross Gareth
- Cross J. Helen
- Crow Yanick
- Curran Sarah
- Curtis David
- D?Alessandro Mariella
- Dabir Tabib
- DaCosta Rosa
- Daly Allan
- Daugherty Louise
- Davidson Rosemarie
- Davies Sally
- Davies Sophie
- Davis John
- Day Ian N.M.
- Day-Williams Aaron
- de Vries Dylan
- De Vries Minka
- Dean John
- Debelle Geoff D.
- Deegan Patrick
- Deevi Sri V.V.
- Deshpande Charu
- Deshpande Charu
- Devlin Gemma
- Devlin Lisa
- Dewhurst Eleanor
- Dixit Abhijit
- Dobbie Angus
- Doffinger Rainer
- Donaldson Alan
- Donnai Dian
- Donnelly Carina
- Donnelly Deirdre
- Dormand Natalie
- Douglas Angela
- Douzgou Sofia
- Down Thomas
- Drewe Elizabeth
- Du Yuanping
- Duncan Alexis
- Dunham Ian
- Eason Jacqueline
- Edgar David
- Edkins Sarah
- Egner William
- Ellard Sian
- Ellis Ian
- Ellis Peter
- Elmslie Frances
- Erber Wendy N.
- Erwood Marie
- Evans David
- Evans Karenza
- Everest Sarah
- Everington Tamara
- Faroogi Sadaf
- Fatemifar Ghazaleh
- Favier Remi
- Fendick Tina
- Firth Helen
- Firth Helen V.
- Fisher Richard
- Fitzgerald Tomas W.
- FitzPatrick David R.
- Fitzpatrick David R.
- Fletcher Debra
- Flicek Paul
- Flinter Frances
- Flinter Frances
- Flyod James
- Foley A. Reghan
- Foulds Nicola
- Fox James C.
- Franklin Christopher S.
- Frary Amy
- Freson Kathleen
- Fry Andrew
- Fryer Alan
- Furie Bruce
- Furnell Abigail
- Futema Marta
- Gale Daniel
- Gallagher Louise
- Gardham Alice
- Gardiner Carol
- Gattens Michael
- Gaunt Lorraine
- Geihs Matthias
- Geschwind Daniel
- Ghali Neeti
- Ghali Neeti
- Ghataorhe Pavandeep K.
- Ghurye Rohit
- Gibbons Richard
- Gibbs Simon
- Gill Harinder
- Gilmour Kimberley
- Gissen Paul
- Goddard Sarah
- Gomez Keith
- Goodship Judith
- Gordins Pavel
- Gorman Kathleen M.
- Goudie David
- Gray Emma
- Green Andrew
- Greene Daniel
- Greene Philip
- Greenhalgh Alan
- Greenhalgh Lynn
- Greinacher Andreas
- Gribble Susan
- Griffin Heather
- Grigoriadou Sofia
- Grozeva Detelina
- Gräf Stefan
- Guo Xiaosen
- Guo Xueqin
- Gurling Hugh
- Haack Tobias B.
- Hackett Scott
- Hadinnapola Charaka
- Hague Rosie
- Haimel Matthias
- Halmagyi Csaba
- Hammerton Tracey
- Harrison Lucy
- Harrison Rachel
- Harrison Victoria
- Hart Daniel
- Hart Deborah
- Hawkins Rose
- Hayman Grant
- He Liu
- Heemskerk Johan W.M.
- Hellens Stephen
- Henderson Alex
- Henderson Robert
- Hendricks Audrey
- Hensiek Anke
- Henskens Yvonne
- Herwadkar Archana
- Hewitt Sarah
- Hildyard Lucy
- Hobson Emma
- Holden Simon
- Holden Simon
- Holder Muriel
- Holder Muriel
- Holder Susan
- Holder Susan
- Hollingsworth Georgina
- Holmans Peter
- Homfray Tessa
- Howie Bryan
- Hu Fengyuan
- Huang Liren
- Hubbard Tim
- Huissoon Aarnoud
- Humbert Marc
- Humphreys Mervyn
- Humphries Steve E.
- Hurles Matthew E.
- Hurles Matthew E.
- Hurst Jane
- Hurst Jane
- Hutton Ben
- Hysi Pirro
- Ingram Stuart
- Iotchkova Valentina
- Irving Melita
- Islam Lily
- Jackson Andrew
- Jackson David K.
- James Roger
- Jamshidi Yalda
- Jan-Kamsteeg Eric
- Jarvis Joanna
- Jenkins Lucy
- Jing Tian
- Johnson Diana
- Jolles Stephen
- Jones Elizabeth
- Jones Philip
- Jones Wendy D.
- Josifova Dragana
- Josifova Dragana
- Joss Shelagh
- Joyce Chris
- Kaemba Beckie
- Kaplanis Joanna
- Kaye Jane
- Kazembe Sandra
- Kazmi Rashid
- Keane Thomas
- Keeling David
- Kelleher Peter
- Kelly Anne M.
- Kelsell Rosemary
- Kemp John
- Kennedy Fiona
- Kennedy Karen
- Keogh Julia
- Kerr Bronwyn
- Kiely David
- King Daniel
- King Mary D.
- Kingston Helen
- Kingston Nathalie
- Kini Usha
- Kinning Esther
- Kirby Gail
- Kirk Claire
- Kivuva Emma
- Kolb-Kokocinski Anja
- Koziell Ania
- Kraus Alison
- Krishnakumar Deepa
- Krishnappa Netravathi
- Kuijpers Taco W.
- Kumar Dhavendra
- Kumar V. K. Ajith
- Kumararatne Dinakantha
- Kurian Manju
- Kurian Manju A.
- Lachance Genevieve
- Lachlan Katherine
- Laffan Michael A.
- Lam Wayne
- Lambert Michele P.
- Lampe Anne
- Langford Cordelia
- Langman Caroline
- Lawrie Allan
- Lawson Daniel
- Lear Sara
- Lee Irene
- Lees Melissa
- Lees Melissa
- Lek Monkol
- Lentaigne Claire
- Li Rui
- Li Yingrui
- Liang Jieqin
- Liesner Ri
- Lim Derek
- Lin Hong
- Linger Rachel
- Liu Ryan
- Longhurst Hilary
- Longman Cheryl
- Lopes Margarida
- Lorenzo Lorena
- Lowther Gordon
- Lynch Sally A.
- Lönnqvist Jouko
- MacArthur Daniel
- Machado Rajiv
- Mackenzie Rob
- MacLaren Robert
- Magee Alex
- Maher Eamonn
- Maher Eamonn R.
- Maher Eddy
- Maimaris Jesmeen
- Male Alison
- Mangles Sarah
- Manson Ania
- Mansour Sahar
- Mapeta Rutendo
- Marchini Jonathan
- Marenne Gaëlle
- Marks Karen
- Markus Hugh S.
- Martin Jennifer
- Martin Katherine
- Masati Larahmie
- Maslen John
- Mason Laura E.
- Massimo Mangino
- Mathias Mary
- Mathieson Iain
- Matser Vera
- Maw Anna
- Maye Una
- McCann Emma
- McConnell Vivienne
- McCullagh Gary
- McDermott Elizabeth
- McEntagart Meriel
- McGowan Ruth
- McGuffin Peter
- McIntosh Andrew
- McJannet Coleen
- McKay Kirsten
- McKechanie Andrew G.
- McKee Shane
- McMullan Dominic J.
- McNerlan Susan
- McQuillin Andrew
- McRae Jeremy F.
- McTague Amy
- McWilliam Catherine
- Meacham Stuart
- Meehan Sharon
- Mefford Heather C.
- Megy Karyn
- Mehta Sarju
- Mehta Sarju
- Metcalfe Kay
- Metrustry Sarah
- Meyer Esther
- Michaelides Michel
- Middleton Anna
- Miedzybrodzka Zosia
- Miles Emma
- Millar Carolyn M.
- Millichap John J.
- Mitchison Hannah
- Moayyeri Alireza
- Mohammed Shehla
- Moledina Shahin
- Montgomery Tara
- Moore Anthony
- Moore David
- Morgan Sian
- Morrell Nicholas
- Morris James
- Morton Jenny
- Morton Jenny
- Mugalaasi Hood
- Mumford Andrew
- Muntoni Francesco
- Murday Victoria
- Murng Sai
- Murphy Elaine
- Murphy Helen
- Naik Swati
- Nejentsev Sergey
- Nellåker Chris
- Nemeth Andrea
- Nevitt Louise
- Newbury-Ecob Ruth
- Noorani Sadia
- Norman Andrew
- Northstone Kate
- Nurden Paquita
- O'Donovan Michael
- O'Rahilly Stephen
- O'Shea Rosie
- Ogilvie Caroline
- Oksenhendler Eric
- Ong Kai-Ren
- Onoufriadis Alexandros
- Oualkacha Karim
- Ouwehand Willem H.
- Owen Michael J.
- Paciorkowski Alex R.
- Palotie Aarno
- Panoutsopoulou Kalliope
- Papadia Sofia
- Park Soo-Mi
- Park Soo-Mi
- Parker Alasdair
- Parker Michael
- Parker Michael J.
- Parker Victoria
- Parr Jeremy R.
- Pasi John
- Patch Chris
- Patel Chirag
- Paternoster Lavinia
- Paterson Joan
- Paterson Joan
- Paunio Tiina
- Payne Felicity
- Payne Jeanette
- Payne Stewart
- Peacock Andrew
- Peerlinck Kathelijne
- Penkett Christopher J.
- Pepke-Zaba Joanna
- Perrett Daniel
- Perry David J.
- Phipps Julie
- Pietilainen Olli
- Pilz Daniela T.
- Plagnol Vincent
- Poduri Annapurna
- Pollard Martin
- Pollock Val
- Polwarth Gary
- Ponsford Mark
- Pottinger Caroline
- Poulton Joanna
- Pratt Norman
- Prescott Katrina
- Pressler Ronit M.
- Price Sue
- Pridham Abigail
- Prigmore Elena
- Procter Annie
- Purnell Hellen
- Qasim Waseem
- Quail Michael A.
- Quarrell Oliver
- Quaye Lydia
- Quinti Isabella
- Ragge Nicola
- Rahbari Raheleh
- Rajan Diana
- Randall Josh
- Rankin Julia
- Rankin Julia
- Rankin Stuart
- Raymond F. Lucy
- Raymond F. Lucy
- Raymond Lucy
- Raymond Lucy
- Rehnstrom Karola
- Rehnström Karola
- Reich Adi
- Reid Evan
- Rhodes Christopher J.
- Rice Debbie
- Richards Michael
- Richardson Sylvia
- Richter Alex
- Ring Susan
- Ritchie Graham R.S.
- Robert Leema
- Roberts Eileen
- Roberts Gillian
- Roberts Irene
- Roberts Jonathan
- Roberts Nicola
- Roberts Paul
- Rondina Matthew
- Ross Alison
- Rosser Elisabeth
- Rosser Elisabeth
- Roughley Catherine
- Rue-Albrecht Kevin
- Saggar Anand
- Samant Shalaka
- Samarghitean Crina
- Sampson Julian
- Sanchis-Juan Alba
- Sanchis-Juan Alba
- Sandford Richard
- Sandford Richard
- Santra Saikat
- Sargur Ravishankar
- Sarkar Ajoy
- Savage David B.
- Savic Sinisa
- Scambler Peter
- Scheffer Ingrid E.
- Schiffels Stephen
- Schmidts Miriam
- Schneider Amy L.
- Schoenmakers Nadia
- Schulman Sol
- Schulze Harald
- Schweiger Susann
- Scott Richard
- Scott Richard
- Scully Marie
- Scurr Ingrid
- Selby Ann
- Seller Anneke
- Semple Robert K.
- Seneviratne Suranjith
- Sequeira Cheryl
- Serra Eva
- Sewell Carrock
- Shamardina Olga
- Shannon Nora
- Sharif Saba
- Sharp Sally I.
- Shaw-Smith Charles
- Shearing Emma
- Shears Debbie
- Sheridan Eamonn
- Shin So-Youn
- Shipley Debbie
- Sieciechowicz Diana
- Sifrim Alejandro
- Simeoni Ilenia
- Simonic Ingrid
- Simpson Michael A.
- Singh Tarjinder
- Singzon Roldan
- Sivapalaratnam Suthesh
- Skitt Zara
- Skuse David
- Small Kerrin
- Smith Audrey
- Smith Kath
- Smith Kenneth
- Smithson Sarah
- Sneddon Linda
- Sohal Aman
- Southam Lorraine
- Southgate Laura
- Spasic-Boskovic Olivera
- Spinelli Egidio
- Splitt Miranda
- Squires Miranda
- St Clair David
- St Pourcian Beate
- Staines Simon
- Stalker Jim
- Staples Emily
- Stauss Hans
- Stein Penelope
- Stephens Jonathan
- Stevens Elizabeth
- Stewart Fiona
- Stewart Helen
- Stirrups Kathleen
- Stock Sophie
- Straub Volker
- Sun Jianping
- Suntharalingam Jay
- Suri Mohnish
- Sutton Vivienne
- Suvisaari Jaana
- Swaminathan Ganesh Jawahar
- Sweeney Elizabeth
- Tachmazidou Ionna
- Tait R. Campbell
- Talks Kate
- Tan Yvonne
- Tatton-Brown Kate
- Taylor Cat
- Taylor Rohan
- Tein Mark
- Temple I. Karen
- Thachil Jecko
- Thaventhiran James
- Thomas Ellen
- Thomas Moira
- Thompson Dorothy
- Thomson Jenny
- Thrasher Adrian
- Tischkowitz Marc
- Tischkowitz Marc
- Titterton Catherine
- Tivey Adrian R.
- Tobin Martin D.
- Toh Cheng-Hock
- Tomkins Susan
- Torokwa Audrey
- Toshner Mark
- Treacy Becky
- Treacy Carmen
- Trembath Richard
- Tuna Salih
- Turek Wojciech
- Turner Claire
- Turnpenny Peter
- Turro Ernest
- Tysoe Carolyn
- Valdes Ana
- Van Geet Chris
- Van Kogelenberg Margriet
- Vandersteen Anthony
- Varghese Vinod
- Vasudevan Pradeep
- Veltman Marijke
- Vijayarangakannan Parthiban
- Vijayarangakannan Parthiban
- Visscher Peter M.
- Vogt Julie
- Vogt Julie
- von Ziegenweldt Julie
- Vonk Noordegraaf Anton
- Wain Louise V.
- Wakeling Emma
- Wakeling Emma
- Wallwark Sarah
- Walters James T.R.
- Wang Guangbiao
- Wang Jun
- Wang Yu
- Wanjiku Ivy
- Ward Kirsten
- Warner Timothy Q.
- Wassmer Evangeline
- Wassmer Evangeline
- Waters Jonathon
- Watkins Hugh
- Weber Astrid
- Webster Andrew
- Welch Steve
- Wellesley Diana
- Westbury Sarah
- Wharton John
- Wheeler Elanor
- Whiteford Margo
- Whitehorn Deborah
- Whyte Tamieka
- Widaa Sara
- Wilcox Sarah
- Wilkins Martin
- Wilkinson Emily
- Willcocks Lisa
- Williams Denise
- Williams Hywel
- Williams Nicola
- Williamson Catherine
- Williamson Kathleen A.
- Wilson Crispian
- Wilson Louise
- Wong Kim
- Woods Geoff
- Woods Geoffrey
- Wort John
- Wragg Christopher
- Wright Caroline F.
- Wright Michael
- Xu ChangJiang
- Yang Jian
- Yates Laura
- Yau Michael
- Yeatman Nigel
- Yong Patrick
- Young Tim
- Yu Ping
- Zhang Fend
- Zhang Pingbo
- Publication venue
- AJHG
- Publication date
- 01/01/2019
- Field of study
The occurrence of non-epileptic hyperkinetic movements in the context of developmental epileptic encephalopathies is an increasingly recognized phenomenon. Identification of causative mutations provides an important insight into common pathogenic mechanisms that cause both seizures and abnormal motor control. We report bi-allelic loss-of-function CACNA1B variants in six children from three unrelated families whose affected members present with a complex and progressive neurological syndrome. All affected individuals presented with epileptic encephalopathy, severe neurodevelopmental delay (often with regression), and a hyperkinetic movement disorder. Additional neurological features included postnatal microcephaly and hypotonia. Five children died in childhood or adolescence (mean age of death: 9 years), mainly as a result of secondary respiratory complications. CACNA1B encodes the pore-forming subunit of the pre-synaptic neuronal voltage-gated calcium channel Cav2.2/N-type, crucial for SNARE-mediated neurotransmission, particularly in the early postnatal period. Bi-allelic loss-of-function variants in CACNA1B are predicted to cause disruption of Ca2+ influx, leading to impaired synaptic neurotransmission. The resultant effect on neuronal function is likely to be important in the development of involuntary movements and epilepsy. Overall, our findings provide further evidence for the key role of Cav2.2 in normal human neurodevelopment.MAK is funded by an NIHR Research Professorship and receives funding from the Wellcome Trust, Great Ormond Street Children's Hospital Charity, and Rosetrees Trust. E.M. received funding from the Rosetrees Trust (CD-A53) and Great Ormond Street Hospital Children's Charity. K.G. received funding from Temple Street Foundation. A.M. is funded by Great Ormond Street Hospital, the National Institute for Health Research (NIHR), and Biomedical Research Centre. F.L.R. and D.G. are funded by Cambridge Biomedical Research Centre. K.C. and A.S.J. are funded by NIHR Bioresource for Rare Diseases. The DDD Study presents independent research commissioned by the Health Innovation Challenge Fund (grant number HICF-1009-003), a parallel funding partnership between the Wellcome Trust and the Department of Health, and the Wellcome Trust Sanger Institute (grant number WT098051). We acknowledge support from the UK Department of Health via the NIHR comprehensive Biomedical Research Centre award to Guy's and St. Thomas' National Health Service (NHS) Foundation Trust in partnership with King's College London. This research was also supported by the NIHR Great Ormond Street Hospital Biomedical Research Centre. J.H.C. is in receipt of an NIHR Senior Investigator Award. The research team acknowledges the support of the NIHR through the Comprehensive Clinical Research Network. The views expressed are those of the author(s) and not necessarily those of the NHS, the NIHR, Department of Health, or Wellcome Trust. E.R.M. acknowledges support from NIHR Cambridge Biomedical Research Centre, an NIHR Senior Investigator Award, and the University of Cambridge has received salary support in respect of E.R.M. from the NHS in the East of England through the Clinical Academic Reserve. I.E.S. is supported by the National Health and Medical Research Council of Australia (Program Grant and Practitioner Fellowship)
Los senderos de la fortuna : historia de los éxitos alcanzados por los hombres en diferentes estados de la vida, en pasadas épocas y en la presente
- Author
- Publication venue
- Publication date
- 01/01/1911
- Field of study
Recommended from our members
Electric Conduction in an Oil-Pumped Vacuum System
- Author
- Publication venue
- Washington Univ., St. Louis
- Publication date
- Field of study
The leakage of electricity aoross a vacuum space in an electrostatic generator which employs a mixture of Sr/sup 90/ and Y/sup 90/ as the source of charging current was investigated. The vacuum is obtained by means of an oil pump. The leakage was shown to consist of a flow of positive and negative particles between the anode and the cathode. The positive particles were found to be primarily organic ions produced in a layer of oil on the surface of the anode. The negative particles were shown to be mostly electrons. Yields of secondary negative particles and secondary positive particles produced by average positive particles in the energy range from 50 to 200 kev were measured. Yields were found to be dependent on the nature of the target material as well as on the energy of the incident ion. A mass spectrometer was employed to study the nature of the positive ions. Most of these were charged fragments of organic molecules. Neutral particles were attributed to dissociation of a portion of positive ions during their flight from the anode to cathode. Electrons, most of which originate at the beta source, are presumed to be the agent for positive ion production. It is believed that the leakage current at a limiting voltage is primarily due to a positive ion-negative ion exchange mechanism. (A.C.
VOLATILE CARBONYL COMPOUNDS OF COOKED CHICKEN. I. COMPOUNDS OBTAINED BY AIR ENTRAINMENT
- Author
- Publication venue
- 'Wiley'
- Publication date
- Field of study
General Notes
- Author
- Publication venue
- Baltimore, Md. :American Society of Mammalogists
- Publication date
- 01/01/1920
- Field of study
Volume: 1Start Page: 87End Page: 9
The first occurrence of a toxodont (Mammalia, Notoungulata) in the United States
- Author
- Publication venue
- 'Informa UK Limited'
- Publication date
- Field of study