26 research outputs found
Age-related differences in integrin expression in peripheral blood lymphocytes
- Author
- Publication venue
- BioMed Central
- Publication date
- 01/01/2010
- Field of study
Alpha integrins play an important role in cell to cell and cell to extra-cellular matrix interactions required for an effective T-lymphocyte-mediated immune response, however little is known about age related differences in expression of alpha integrins on T-cells in humans. We here measured alpha-4 (α4) integrin (CD49d) expression on T-lymphocytes via peripheral blood sampling, comparing parameters between cohorts of young and old adults. No age-related differences were found for the absolute numbers of T-cells, although the percentage of CD4+ T-cells in older adults was significantly greater and the percentage of CD8+ T-cells lower than in younger cohorts. Percentage and absolute numbers of CD3+ T-cells co-expressing CD49d were significantly lower in older adults compared to younger cohorts, and the percentage of gated CD4+ and CD8+ cells that co-labelled positively for CD49d was also reduced in this group. There were no age-related differences in circulating levels of cytokines (Type I interferons) that are known to regulate cell surface integrin expression. Reduced expression of alpha integrins on T-cells may be an early indicator of the loss of homeostatic control that occurs with ageing, contributing to diminished effector T-cell responses during senescence
Whole-genome sequencing reveals host factors underlying critical COVID-19
- Author
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- Vaida M.
- Valente S.
- Valentine J.
- Valentino F.
- van Blokland I.
- van Heel D. A.
- van Koutrik L.
- Varghese M.
- Vecchia M.
- Vedage D.
- Veerapen K.
- Venkatesh H.
- Venn L. D.
- Venturelli S.
- Vergori A.
- Verlander M.
- Verma A.
- Verma S. S.
- Vertue M.
- Verula J.
- Verzuri A.
- Vigurs C.
- Villalonga J. M.
- Vincent R.
- Vincenti A.
- Virgilio E.
- Vitart V.
- Vizcaychipi M. P.
- Vochin A.
- Voide C.
- von Frenckell C.
- von Hohenstaufen K. A.
- Vonk J. M.
- Vulesevic B.
- Vuylsteke A.
- Wackett T.
- Wadams B.
- Waddington N.
- Wagstaff V.
- Wain L. V.
- Waite A. A. C.
- Wakefield P.
- Wakinshaw F.
- Waldron J.
- Walker D.
- Walker R.
- Walker S.
- Walker S.
- Wall A.
- Walsh T.
- Walters R. K.
- Walton O.
- Wang B.
- Wang J.
- Wang X.
- Wanying Z.
- Ward G.
- Ward L.
- Ward M.
- Warden S.
- Warmerdam R.
- Warren D.
- Wassall H.
- Wasson C.
- Watkins C.
- Watson E.
- Watson G.
- Watson J.
- Watters M.
- Waugh V.
- Weaver J.
- Webster A.
- Webster D.
- Webster K.
- Wei S.
- Weiss S. T.
- Weldon C. H.
- Wells C.
- Welters I. D.
- Weston H.
- Whileman A.
- Whitbread J.
- White D.
- White I.
- White K.
- White M.
- White N.
- White N.
- Whiteley S.
- Whiteside J.
- Whittle H.
- Whitton C.
- Whyte C.
- Wicks S. J.
- Wilby E.
- Wilcox L.
- Wilcox R.
- Wild H.
- Wild L.
- Wiles M.
- Wilkins J.
- Wilkinson A.
- Wilkinson B.
- Willer C.
- Williams A.
- Williams A.
- Williams A.
- Williams A. T.
- Williams D.
- Williams E.
- Williams F.
- Williams G.
- Williams H.
- Williams K.
- Williams M.
- Williams P.
- Williams S.
- Williams T.
- Willis C.
- Willis H.
- Wills M.
- Willson J.
- Wilson A.
- Wilson D. J.
- Wilson J.
- Wilson J. F.
- Winnard S.
- Winter-Goodwin B.
- Wolf-Roberts R.
- Wolford B.
- Wong J.
- Wood D.
- Wood H. -L.
- Wood S.
- Wood T.
- Woodford C.
- Woodruff M.
- Woods L.
- Woodyatt W.
- Woolley A. E.
- Worner R.
- Worsley L.
- Wray G.
- Wren L.
- Wright D.
- Wright J.
- Wright M.
- Wrobel N.
- Wu Y.
- Wulandari R.
- Wyllie D. H.
- Wynter I.
- Xavier K.
- Xue X.
- Yadav A.
- Yang J.
- Yassen A. M.
- Yates B.
- Ye C.
- Yun N.
- Zainy T.
- Zak A.
- Zaki A.
- Zamikula J.
- Zanella I.
- Zborowski A. C.
- Zeberg H.
- Zechner M.
- Zguro K.
- Zhang M.
- Zhao J. H.
- Zheng C.
- Zhou W.
- Zitter L.
- Zlatopolsky M.
- Zollner S.
- Zongo O.
- Zucchi P.
- Zyndorf M.
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/2022
- Field of study
Critical COVID-19 is caused by immune-mediated inflammatory lung injury. Host genetic variation influences the development of illness requiring critical care1 or hospitalization2–4 after infection with SARS-CoV-2. The GenOMICC (Genetics of Mortality in Critical Care) study enables the comparison of genomes from individuals who are critically ill with those of population controls to find underlying disease mechanisms. Here we use whole-genome sequencing in 7,491 critically ill individuals compared with 48,400 controls to discover and replicate 23 independent variants that significantly predispose to critical COVID-19. We identify 16 new independent associations, including variants within genes that are involved in interferon signalling (IL10RB and PLSCR1), leucocyte differentiation (BCL11A) and blood-type antigen secretor status (FUT2). Using transcriptome-wide association and colocalization to infer the effect of gene expression on disease severity, we find evidence that implicates multiple genes—including reduced expression of a membrane flippase (ATP11A), and increased expression of a mucin (MUC1)—in critical disease. Mendelian randomization provides evidence in support of causal roles for myeloid cell adhesion molecules (SELE, ICAM5 and CD209) and the coagulation factor F8, all of which are potentially druggable targets. Our results are broadly consistent with a multi-component model of COVID-19 pathophysiology, in which at least two distinct mechanisms can predispose to life-threatening disease: failure to control viral replication; or an enhanced tendency towards pulmonary inflammation and intravascular coagulation. We show that comparison between cases of critical illness and population controls is highly efficient for the detection of therapeutically relevant mechanisms of disease
IMPACT-Global Hip Fracture Audit: Nosocomial infection, risk prediction and prognostication, minimum reporting standards and global collaborative audit. Lessons from an international multicentre study of 7,090 patients conducted in 14 nations during the COVID-19 pandemic
- Author
- Abdul-Jabar Hani
- Abu-Rajab Rashid
- Abugarja Ahmed
- Adam Karen
- Aguado Hernández Héctor J.
- Améstica Lazcano Gedeón
- Anderson Sarah
- Ansar Mahmood
- Antrobus Jonathan
- Aragón Achig Esteban Javier
- Archunan Maheswaran
- Arrieta Salinas Mirentxu
- Ashford-Wilson Sarah
- Assens Gibert Cristina
- Athanasopoulou Katerina
- Awadelkarim Mohamed
- Baird Stuart
- Bajada Stefan
- Balakrishnan Shobana
- Balasubramanian Sathishkumar
- Ballantyne James A.
- Barkham Benjamin
- Barmpagianni Christina
- Barres-Carsi Mariano
- Barrett Sarah
- Baskaran Dinnish
- Bell Jean
- Bell Katrina
- Bell Stuart
- Bellelli Giuseppe
- Benchimol Javier Alberto
- Boietti Bruno Rafael
- Boswell Sally
- Braile Adriano
- Brennan Caitlin
- Brent Louise
- Brooke Ben
- Bruno Gaetano
- Burahee Abdus
- Burns Shirley
- Bárcena Goitiandia Leopoldo
- Calabrò Giampiero
- Campbell Lucy
- Carabelli Guido Sebastian
- Carnegie Carol
- Carretero Cristobal Guillermo
- Caruana Ethan
- Cassinello Ogea M. a Concepción
- Castellanos Robles Juan
- Castillon Pablo
- Cecere Antonio Benedetto
- Chakrabarti Anil
- Chen Ping
- Clarke Jon V.
- Clement Nicholas D.
- Collins Grace
- Corrales Cardenal Jorge E.
- Corsi Maurizio
- Craxford Simon
- Crooks Melissa
- Cuarental-García Javier
- Cuthbert Rory
- Cózar Adelantado Gara María
- Dall Graham
- Daskalakis Ioannis
- De Cicco Annalisa
- Demaria Pablo
- Dereix John
- Diana de la Fuente de Dios
- Dinamarca Montecinos José Luis
- Do Le Ha Phuong
- Donoso Coppa Juan Pablo
- Drosos Georgios
- Duckworth Andrew D.
- Duffy Andrew
- Díaz Jiménez Julian
- East Jamie
- Eastwood Deborah
- Elbahari Hassan
- Elias de Molins Peña Carmen
- Elmamoun Mamoun
- Emmerson Ben
- Escobar Sánchez Daniel
- Faimali Martina
- Farrow Luke
- Farré-Mercadé Maria Victòria
- Fayez Almari
- Fell Adam
- Fenner Christopher
- Ferguson David
- Finlayson Louise
- Flores Gómez Aldo
- Freeman Nicholas
- French Jonathan
- Gabardo Calvo Santiago
- Gagliardo Nicola
- Garcia Albiñana Joan
- García Cruz Guillermo
- García de Cortázar Antolín Unai
- García Virto Virginia
- Gealy Sophie
- Gil Caballero Sandra Marcela
- Gill Moneet
- González González María Soledad
- Gopireddy Rajesh
- Guntley Diane
- Gurung Binay
- Guzmán Rosales Guadalupe
- Haddad Nedaa
- Hafeez Mahum
- Hall Andrew J.
- Haller Petra
- Halligan Emer
- Hamid Hytham K. S.
- Hardie John
- Hawker Imogen
- Helal Amr
- Herrera Cruz Mariana
- Herreros Ruiz-Valdepeñas Ruben
- Horton James
- Howells Sean
- Howieson Alan
- Hughes Luke
- Hurtado Ortega Ana
- Huxley Peter
- Hünicken Torrez Flavia Lorena
- Ilahi Nida
- Iliadis Alexis
- Inman Dominic
- Jadhao Piyush
- Jandoo Rajan
- Jawad Lucy
- Jayatilaka Malwattage Lara Tania
- Jenkins Paul J.
- Jeyapalan Rathan
- Johansen Antony
- Johnson David
- Johnston Andrew
- Joseph Sarah
- Kapoor Siddhant
- Karagiannidis Georgios
- Karanam Krishna Saga
- Kattakayam Freddy
- Konarski Alastair
- Kontakis Georgios
- Labrador Hernández Gregorio
- Lancaster Victoria
- Landi Giovanni
- Le Brian
- Liew Ignatius
- Logishetty Kartik
- Lopez Marquez Andrew Carlomaria Daniel
- Lopez Judit
- Lum Joann
- MacLullich Alasdair MJ.
- Macpherson Gavin J.
- Madan Suvira
- Mahroof Sabreena
- Malik-Tabassum Khalid
- Mallina Ravi
- Maqsood Afnan
- Marson Ben
- Martin Legorburo M José
- Martin-Perez Encarna
- Martinez Martin Javier
- Martínez Jiménez Tania
- Mayne Alistair
- Mayor Amy
- McAlinden Gavan
- McDonald Lorna
- McIntyre Joshua
- McKay Pamela
- McKean Greg
- McLean Lucille
- McShane Heather
- Medici Antonio
- Meeke Chelsea
- Meldrum Evonne
- Mendez Mijail
- Mercer Scott
- Merino Perez Josu
- Mesa-Lampré María-Pilar
- Mighton Shuna
- Milne Kirsty
- Mohamed Yaseen Muhammed
- Moppett Iain
- Mora Jesus
- Morales-Zumel Sira
- Moreno Fenoll Irene Blanca
- Mousa Adham
- Murray Alastair W.
- Murray Elspeth V.
- Nair Radhika
- Neary Fiona
- Negri Giacomo
- Negus Oliver
- Newham-Harvey Fiona
- Ng Nigel
- Nightingale Jess
- Noor Mohamed Anver Sumiya
- Nunag Perrico
- O'Hare Matthew
- Ojeda-Thies Cristina
- Ollivere Ben
- Ortés Gómez Raquel
- Owens AnneMarie
- Page Siobhan
- Palloni Valentina
- Panagiotopoulos Andreas
- Panagiotopoulos Elias
- Panesar Paul
- Papadopoulos Antonios
- Pareja Sierra Teresa
- Park Chang
- Parwaiz Hammad
- Paterson-Byrne Paul
- Patton Sam
- Pearce Jack
- Pellegrino Achille
- Pezzella Raffaele
- Phadnis Ashish
- Pinder Charlotte
- Piper Danielle
- Porter Marina
- Powell-Bowns Matilda
- Prieto Martín Rocío
- Probert Annabel
- Pèrez Cuellar Arturo
- Ramesh Ashwanth
- Ramírez de Arellano Manuel Vicente Mejía
- Renton Duncan
- Rickman Stephen
- Robertson Alastair
- Roche Albero Adrian
- Rodrigo Verguizas José Alberto
- Rodríguez Couso Myriam
- Rooney Joanna
- Saldaña-Díaz Andres
- Santulli Adriano
- Sanz Pérez Marta Isabel
- Sarraf Khaled M.
- Scarsbrook Christine
- Scott Chloe E. H.
- Scott Jennifer
- Shah Sachi
- Sharaf Sharief
- Sharma Sidharth
- Shirley Denise
- Siano Antonio
- Simpson James
- Singh Abhinav
- Singh Amit
- Sinnett Tim
- Sisodia Gurudatt
- Smith Philomena
- Sophena Bert Eugenia
- Spyridon Papagiannis
- Steel Michael
- Stewart Avril
- Stewart Claire
- Sugand Kapil
- Sullivan Niall
- Sweeting Lauren
- Symes Michael
- Sáez-López Pilar
- Tan Dylan Jun Hao
- Tancredi Francesco
- Tatani Irini
- Thomas Philip
- Thomson Fraser
- Toner Niamh S.
- Tong Anna
- Toro Antonio
- Toro Giuseppe
- Tosounidis Theodoros
- Tottas Stylianos
- Trinidad Leo Andrea
- Tucker Damien
- Vemulapalli Krishna
- Ventura Garces Diego
- Vernon Olivia Katherine
- Viveros Garcia Juan Carlos
- Ward Alex
- Ward Kirsty
- Watson Kate
- Weerasuriya Thisara
- White Tim O.
- Wickramanayake Udara
- Wilkinson Hannah
- Windley Joseph
- Wood Janet
- Wynell-Mayow William
- Zatti Giovanni
- Zeiton Moez
- Zurrón Lobato Miriam
- Publication venue
- 'Elsevier BV'
- Publication date
- 01/01/2022
- Field of study
SARS-CoV-2 susceptibility and COVID-19 disease severity are associated with genetic variants affecting gene expression in a variety of tissues
- Author
- Abd Elghafar Mohamed S.
- Abdel-Aziz Mahmoud
- Abdollahi Hamed
- Abdullah Tala
- Abecasis Goncalo R.
- Abedalthagafi Malak
- Abul-Husn Noura S.
- Acquilini Donatella
- Adams Emma L.
- Adamsara Alireza
- Adeleye Olumide
- Adra Darin
- Afilalo Jonathan
- Afilalo Marc
- Afrasiabi Zaman
- Agüero Daiana
- Ahmadi Saeideh
- Aksentijevich Alexandra
- Al Harthi Fawz
- Al Mutairi Amal
- Al-Afghani Hani
- Al-Awdah Laila
- Alaamery Manal
- Alahmadey Ziab Z.
- Alaverdian Diana
- Alavere Helene
- Albader Anoud
- Albaiceta Guillermo M.
- Albakri Jehad K.
- AlBardis Hadeel
- Albeladi Maha
- Albesher Nour
- Albrich Werner
- AlDhawi Nouf
- Aleagha Afshar Etemadi
- Alghamdi Bader
- Alghamdi Jahad
- Ali Altaf
- Aliannejad Rasoul
- Aljawini Nora
- AlJohani Sameera
- Alkwai Sarah
- Allos Raili
- AlMalik Abdulaziz
- Almalki Faisal
- Almohammed Iman
- Almutairi Mansour
- Alotaibi Sara
- Alowayn Albandary M.
- Alqahtani Saleh
- Alqubaishi Fatimah
- Alrashed May
- Alshareef Abdulraheem
- Alsolm Ebtehal
- Alswailm Moneera
- AlZahrani Deema
- Amirsavadkouhi Ali
- Amitrano Sara
- Andolfo Immacolata
- Andretta Francesca
- Andreucci Elena
- Andrews Shea J.
- Andrews Shea J.
- Andrews Shea J.
- Anedda Federico
- Anemoli Valentina
- Anne Feng Yen-Chen
- Annis Aubrey
- Antinori Andrea
- Antoni Melania Degli
- Aprile von Hohenstaufen Kathrin
- Arabi Yaseen M.
- Armstrong Jacob
- Arning Nicolas
- Arranz Maria J.
- Arribas Elisa
- Arthur Timothy D.
- Artuso Rosangela
- Arumugam Prabhu
- Ascolillo Steven
- Atkinson Elizabeth G.
- Aucella Filippo
- Auld Daniel
- Azarzar Samira
- Åsvold Bjørn Olav
- Bachetti Tiziana
- Balaconis Mary K.
- Baldassarri Margherita
- Ball Catherine A.
- Baltzell Asher Haug
- Band Gavin
- Bandini Maria
- Baraka Dona
- Baras Aris
- Baratti Stefano
- Barbieri Chiara
- Bargagli Elena
- Barhoush Eman
- Barnes Kathleen C.
- Baroni Silvia
- Bartels Meike
- Bassetti Matteo
- Batini Chiara
- Baya Nikolas
- Beck Andrew
- Beckmann Noam D.
- Bedini Josep L.
- Bee Catherine E.
- Beguin Yves
- Belbin Gillian M.
- Belhaj Yasmine
- Beligni Giada
- Belisle Alexandre
- Belli Mary Ann
- Below Jennifer
- Benetti Elisa
- Bennett David
- Bergantini Laura
- Bergomi Paola
- Berkowitz Nathan
- Bernardo David
- Bibert Stéphanie
- Biscarini Filippo
- Blay Natalia
- Bochud Pierre-Yves
- Boillat Noémie
- Bottà Giordano
- Bouab Meriem
- Boughton Andrew P.
- Bradford Yuki
- Branka Vulesevic Nardin Rezk
- Brassard Nathalie
- Brenner Bluma
- Britvan Bari
- Brumpton Ben M.
- Bruno Raffaele
- Bruttini Mirella
- Bryant Sam
- Bryant Sam
- Buring Julie E.
- Busani Stefano
- Bussotti Maurizio
- Butler-Laporte Guillaume
- Butler-Laporte Guillaume
- Butterworth Adam S.
- Buxbaum Joseph D.
- Cal-Sabater Paloma de la
- Caldarelli Gian Piero
- Callier Shawneequa
- Cameli Paolo
- Campbell Archie
- Campbell Archie
- Canaccini Anna
- Cantarini Luca
- Cantor Michael N.
- Capasso Mario
- Capitani Katia
- Cappelli Silvia
- Carella Massimo
- Carey Dave J.
- Carreras Anna
- Carriero Miriam Lucia
- Castaño-Vinyals Gemma
- Castelli Francesco
- Castori Marco
- Catena Emanuele
- Caulfield Mark J.
- Cárcel-Márquez Jara
- Ceri Stefano
- Chamnanphon Monpat
- Chan Georgia
- Chang Xiao
- Chang Xiao
- Chariyavilaskul Pajaree
- Charney Alexander W.
- Chasman Daniel I.
- Chassé Michaël
- Chaudhary Kumardeep
- Chavan Sameer
- Chen Hung-Hsin
- Cheng Nathan
- Chetruengchai Wanna
- Chittoor Geetha
- Cho Judy H.
- Cho Kelly
- Choi Sam
- Churchhouse Claire
- Chwialkowska Karolina
- Claassen Sabine
- Claringbould Annique
- Coignet Marie
- Coiro Gabriella
- Collins Brett L.
- Colobrán Roger
- Colombo Riccardo
- Conticini Edoardo
- Cordioli Mattia
- Cordioli Mattia
- Cordioli Mattia
- Cordioli Mattia
- Cordioli Mattia
- Cordioli Mattia
- Cordioli Mattia
- Cordioli Mattia
- Corridi Marta
- Cortés Beatriz
- Cossarizza Andrea
- Coto Eliecer
- Coviello Domenico A.
- CRiPSI null
- Croci Leonardo
- Croci Susanna
- Crook Derrick W.
- Crooks Kristy
- Crotti Lia
- Cullell Natalia
- Cusick Caroline
- Daga Sergio
- Dalmau David
- Daly Mark
- Danesh John
- Darcis Gilles
- Daya Michelle
- de Cid Rafael
- de Felipe Mimbrera Alicia
- de geus Eco (E. J. C. )
- De Vivo Oreste
- DeDiego Marta L.
- Deelen Patrick
- Dei Simona
- Della Monica Matteo
- Desanctis Elena
- Di Angelantonio Emanuele
- Di Biagio Antonio
- Di Domenico Paolo
- Di Pietro Massimo
- Di Sarno Laura
- Dietl Beatriz
- Do Ron
- Dobaño Carlota
- Doddato Gabriella
- Domingo Carlos
- Domínguez-Mayoral Anna
- Donati Alice
- Donner Kati
- Durand Madeleine
- D’Alessandro Miriana
- D’Antonio Matteo
- D’Antonio-Chronowska Agnieszka
- D’Arminio Monforte Antonella
- D’Mellow Kenton
- Earle Sarah G.
- Eid Mohammed A.
- El-Jawhari Jehan J.
- El-Lawaty Walaa M.
- El-shanshory Mohamed R.
- El-Sherbiny Yasser M.
- Elhadidy Tamer A.
- Elnagdy Marwa H.
- Eltoukhy Madonna M.
- Emiliozzi Arianna
- Emma Duncan
- Erard Véronique
- Esko Tõnu
- Fabbiani Massimiliano
- Falcone Marco
- Fallerini Chiara
- Farré Xavier
- Fava Francesca
- Fawns-Ritchie Chloe
- Fawns-Ritchie Chloe
- Fawzy Mohammad S.
- Felemban Walaa A.
- Feri Marco
- Fernandez-Cadenas Israel
- Ferreira Manuel A. R.
- Ferri Claudio
- FHoGID null
- Finer Sarah
- FinnGen null
- Finucane Hilary
- Fiorentino Giuseppe
- Fiz-López Aida
- Forgetta Vincenzo
- Forgetta Vincenzo
- Fowler Tom
- Francesco Bianchi Antonio Perrella
- Franchi Federico
- Francisci Daniela
- Franco Giulianini
- Frazer Kelly A.
- Frediani Bruno
- Free Robert C.
- Frippiat Frederic
- Frithiof Robert
- Frullanti Elisa
- Furini Simone
- Gabbi Chiara
- Gabrieli Arianna
- Gaddis Michael
- Galván-Femenía Iván
- Ganna Andrea
- Ganna Andrea
- Garcia-Aymerich Judith
- García-Clemente Marta
- García-Madrona Sebastian
- Gass Matthew C.
- Gatti Francesca
- Gaziano J. Michael
- Genes &
- Georges Michel
- Gettler Kyle
- Ghosh Biswarup
- Giannattasio Ferdinando
- Gignoux Christopher R.
- Giliberti Annarita
- Giorli Alessia
- Giot Jean-Baptiste
- Girardis Massimo
- Girshick Ahna
- Glessner Joseph R.
- Glessner Joseph T.
- Gofflot Stéphanie
- Goldstein Jacqueline I.
- Gomez Juan
- González-Villa Esther
- Gori Marco
- Grassi Davide
- Green Robert C.
- Griffiths Christopher J.
- Grip Jonathan
- Guarnaccia Alessandra
- Guerrini Susanna
- Guidelli Luca
- Guindo-Martinez Marta
- Guiot Julien
- Guntz Julien
- Gupta Rahul
- Guturu Harendra
- Guyatt Anna L.
- Guzman Charlotte
- Hakonarson Hakon
- Hakonarson Hakon
- Halawani Roaa T.
- Harerimana Nadia
- Harris Jennifer R.
- Hasanato Rana
- Hayward Caroline
- Hayward Caroline
- Health Research Team null
- Hegazy Mohamed A. F.
- Helgeland Øyvind
- Henry Danielle
- Hensen Kati
- Hiester Liam L.
- Hirankarn Nattiya
- Ho Yuk-Lam
- Hoggart Clive
- Hollox Edward J.
- Hong Eurie L.
- Horowitz Julie E.
- Hosseini Abdolmajid
- Hottenga Jouke Jan
- Huang Qin Qin
- Huckins Laura M.
- Huffman Jennifer E.
- Hultström Michael
- Hunt Karen A.
- Huynen Pascale
- Hveem Kristian
- Iglesias Lara Lloret
- Ikram M. Arfan
- Iolascon Achille
- Itan Yuval
- Jacques Jessica
- Jantarabenjakul Watsamon
- Jiménez-Xarrié Elena
- John Catherine
- Jordan Daniel M.
- Josyula Navya Shilpa
- Jung Junghyun
- Justice Anne E.
- Kallaste Anne
- Kamdar Dhryata
- Kanai Masahiro
- Kanai Masahiro
- Kanai Masahiro
- Karczewski Konrad J.
- Karjalainen Juha
- Karlson Elizabeth W.
- Karp Avromie
- Kaufmann Daniel E.
- Kaunisto Mari
- Keller Katherine
- Kenny Eimear E.
- Kerr Shona M.
- Khafaga Walid T.
- Khattab Amin K.
- Kimchi Nofar
- King Daniel
- Kisand Kai
- Kivinen Katja
- Knight Spencer
- Koelling Nils
- Kogevinas Manolis
- Koskelainen Sami
- Kosmicki Jack A.
- Kousathanas Athanasios
- Kristiansson Kati
- La Rovere Maria Teresa
- Laane Edward
- Labkowsky Alexander
- Laisk Triin
- Lambermont Bernard
- Lanting Pauline
- Lathrop G. Mark
- Lauren Petty E.
- Laurent Laetitia
- Läll Kristi
- Leader Joseph B.
- Lee Paul H.
- Lee Yunsung
- LeFaive Jonathon
- Lena Fabio
- Lepage Pierre
- Lepamets Maarja
- Levy Tess
- Léonard Philippe
- Li Binglan
- Li Kevin W.
- Li Rui
- Liao Rachel G.
- Lin Shang-Kuan
- Lipcsey Miklos
- Lista Mirjam
- Llucià-Carol Laia
- Lo Rizzo Caterina
- Loos Ruth J. F.
- Lopera Esteban
- Lorubbio Maria
- Lozano Francisco
- Lu Wenhan
- Lucas Anastasia
- Luchi Sauro
- Ludovisi Serena
- Maggiolo Franco
- Magnus Per
- Mahmoud Ebrahim S.
- Malaise Olivier
- Mamlouk Noor
- Mancarella Sandro
- Mandalà Marco
- Mangino Massimo
- Mangul Serghei
- Manson JoAnn E.
- Mantovani Stefania
- Marcantonio Simona
- Marciano Carmen
- Mari Francesca
- Maricic Tomislav
- Marike Boezen Lude Franke
- Martin Alicia R.
- Martin Hilary C.
- Martinelli Enrico
- Martí-Fàbregas Joan
- Martín-Nalda Andrea
- Martínez Alba Parra
- Masjuan Jaime
- Mason Dan
- Massadeh Salam
- Masucci Luca
- Matsui Hiroko
- Mazzei Maria Antonietta
- Márquez Leonardo
- Mägi Reedik
- McCormick Joseph B.
- McCurdy Shannon
- Medina-Gomez Carolina
- Meigs James B.
- Meloni Ilaria
- Menatti Elisabetta
- Mencarelli Maria Antonietta
- Menéndez-Valladares Paloma
- Mercader Josep
- Mercader Josep Maria
- Merla Giuseppe
- Metsalu Kristjan
- Metspalu Andres
- Meuris Christelle
- Milani Lili
- Miraglia Federica Gaia
- Mirshahi Tooraj
- Misset Benoit
- Moahmed Hanteera S.
- Mohamed Attia A. S.
- Mohseni Moghaddam Seyed Behrooz
- Mondelli Mario Umberto
- Montagnani Francesca
- Mooser Vincent
- Moreno Victor
- Morris Marcela
- Morrison David R.
- Moutschen Michel
- Moutsianas Loukas
- Muiño Elena
- Murphy Shawn N.
- Mussini Cristina
- Naaber Paul
- Naderpour Zeinab
- Nadkarni Girish N.
- Nakanishi Tomoko
- Nakanishi Tomoko
- Neale Benjamin M.
- Nencioni Cesira
- Neofytos Dionysios
- Nguyen Huy
- Nguyen Jennifer P.
- Niavarani Ahmadreza
- Niblo Kristi
- Niemi Mari E. K.
- Niemi Mari E. K.
- Niemi Mari E. K.
- Niemi Mari E. K.
- Niemi Mari E. K.
- Nilaratanakul Voraphoj
- Nivard Michel (M. G. )
- Nkambul Lindo
- Nkambul Lindokuhle
- Nkambul Lindokuhle
- Nkambule Lindokuhle
- Nkambule Lindokuhle
- North Kari
- Noto Keith
- Nussle Semira Gonseth
- Odhams Christopher A.
- Ognibene Agostino
- Okasha Kamal
- Oliveira Maureen
- Ori Anil P. S.
- O’Connell Anne Marie
- O’Donnell Christopher J.
- O’Reilly Paul
- P-PredictUs null
- Paciosi Francesco
- Paciosi Francesco
- Packer Richard J.
- Palmer Duncan S.
- Palmieri Maria
- Palotie Aarno
- Pancrazzi Alessandro
- Panese Sandro
- Parati Gianfranco
- Parisi Saverio Giuseppe
- Park Danny
- Parravicini Pierpaolo
- Partha Raghavendran
- Pasko Dorota
- Pathak Gita A.
- Pathak Gita A.
- Pavlovic Milos
- Peloso Gina
- Perez Emma F.
- Perez-Tur Jordi
- Perna Rita
- Perola Markus
- Peruggia Michael
- Pessina Gloria
- Pesukova Jaana
- Peterson Pärt
- Petitjean Louis
- Petrocelli Paola
- Phokaew Chureerat
- Piacentini Paolo
- Picchiotti Nicola
- Pigazzini Sara
- Pigazzini Sara
- Pigazzini Sara
- Pigazzini Sara
- Pinoli Pietro
- Pinto Anna Maria
- Pirinen Matti
- Piscopo Carmelo
- Planas Anna M.
- Polikowski Hannah
- Polimanti Renato
- Polymeropoulos Christos
- Polymeropoulos Mihael H.
- Polymeropoulos Vasilios
- Pongpanich Monnat
- Porteous David J.
- Porteous David J.
- Poscente Monica
- Preuss Michael
- Przychodzen Bartlomiej P.
- Putchareon Opass
- Puthanakit Thanyawee
- Puusepp Mairo
- Quinodoz Mathieu
- Quiros-Roldan Eugenia
- Rader Daniel
- Rafaels Nicholas
- Raggi Pamela
- Ragoussis Jiannis
- Rahmouni Souad
- Raimondi Francesco
- Rancan Ilaria
- Rand Kristin
- Ravaglia Sabrina
- RegCOVID null
- Reimann Ene
- Rendon Augusto
- Renieri Alessandra
- Rhead Brooke
- Rhodes Daniel
- Richards J. Brent
- Richards J. Brent
- Richmond Anne
- Richmond Anne
- Rico Veronica
- Ridker Paul M.
- Ringmets Inge
- Ripamonti Diego
- Ripatti Samuli
- Ritchie Marylyn D.
- Riva Agostino
- Rivolta Carlo
- Rizzi Marco
- Roberts Genevieve
- Robles Veronica
- Rogne Tormod
- Rojo Silvia
- Romani Davide
- Rooyackers Olav
- Rossetti Barbara
- Rudkin Justine K.
- Ruiz Luong
- Ruiz-Jaén Francisca
- Ruotsalainen Sanni
- Rusconi Stefano
- Russo Roberta
- Sabrina Ravaglia
- Saeedi Morteza
- Safieh Leen Abu
- Salerni Lorenzo
- Salib Irene
- Samir Amr
- Sanarico Maurizio
- Sanguinetti Maurizio
- Sarma Gopal
- Sarzi-Braga Simona
- Satterstrom F. Kyle
- Sauvage Anne-Sophie
- Sawaji Mona
- Scaggiante Renzo
- Scala Raffaele
- Schadt Eric E.
- Schiaroli Elisabetta
- Schurr Erwin
- Scolletta Sabino
- Scott Richard H.
- Scotton Pier Giorgio
- Sealfon Stuart C.
- Sebastian Zöllner Brooke Wolford
- Sebra Robert P.
- Seed Cotton
- Segala Francesco Vladimiro
- Segura Tomás
- SeroCOVID null
- Serra-Llovich Alex
- Serrano-Heras Gemma
- Sesso Howard D.
- Shahin Doaa
- Sharififard Bahareh
- Shaw Douglas M.
- Shortt Jonathan
- Shotelersuk Vorasuk
- Shrine Nick
- Siano Matteo
- Sloofman Laura G.
- Smieszek Sandra P.
- Smith Albert V.
- Smoller Jordan W.
- Sobh Ali
- Sodsai Pimpayao
- Soler Pere
- Solligard Erik
- Solomonson Matthew
- Solomonson Matthew
- Soranzo Nicole
- Soriano Alex
- Spargi Genni
- Spector Tim D.
- Spencer Chris C. A.
- Spertilli Chiara
- Squeo Gabriella Maria
- Starkopf Joel
- Stella Alessandra
- Stevens Christine
- Stevens Christine
- Stuckey Alex
- Suardi Claudia
- Suchartlikitwong Pintip
- Suh Noémie
- Suliman Bandar A.
- Sumoy Lauro
- Sun Yan V.
- Suttichet Thitima B.
- Tabri Jekaterina
- Tacconi Danilo
- Tadi Hengameh Ansari
- Tamm Anu
- Tanfoni Marco
- Tang Lara
- Tardif Nicolas
- Tavecchia Luisa
- Tenesa Albert
- Thompson Ryan C.
- Thys Marie
- Timmers Paul R. H. J.
- Tiseo Giusy
- Tita Rossella
- Tobin Martin D.
- Tommasi Andrea
- Torky Mohamed S.
- Torrents David
- Torvorapanit Pattama
- Trankiem Amy
- Trembath Richard C.
- Trivedi Bhavi
- Trogstad Lill-Iren S.
- Trotta Tullio
- Tsao Phil
- Tselios Chris
- Tsuo Kristin
- Tumbarello Mario
- Turley Patrick
- Uitterlinden Andre G.
- Underwood Slayton J.
- Vaghi Massimo
- Valente Serafina
- Valentino Floriana
- van Blokland Irene
- van Heel David A.
- Vecchia Marco
- Veerapen Kumar
- Venn Laura D.
- Venturelli Sophie
- Vergori Alessandra
- Verma Anurag
- Verma Shefali S.
- Verzuri Agnese
- Villalonga Joan Montaner
- Vincenti Antonella
- Voide Cathy
- Von Frenckell Christian
- Vonk Judith. M.
- Wain Louise V.
- Walker Susan
- Walters Raymond K.
- Wang Jiongming
- Wang Xueyang
- Wanying Zhu
- Warmerdam Robert
- Weiss Scott T.
- Wicks Stephen J.
- Willer Cristen
- Williams Alexander T.
- Wilson Daniel J.
- Wilson James F.
- Wolford Brooke
- Wolford Brooke
- Woolley Ann E.
- Wright John
- Wyllie David H.
- Xue Xiaoqing
- Yadav Ashish
- Yassen Amr M.
- Zanella Isabella
- Zeberg Hugo
- Zguro Kristina
- Zhang Miao
- Zhao Jing Hua
- Zhou Wei
- Zhou Wei
- Zlatopolsky Menachem
- Zucchi Patrizia
- Zyndorf Marissa
- Publication venue
- 'Elsevier BV'
- Publication date
- 01/01/2021
- Field of study
Variability in SARS-CoV-2 susceptibility and COVID-19 disease severity between individuals is partly due to
genetic factors. Here, we identify 4 genomic loci with suggestive associations for SARS-CoV-2 susceptibility
and 19 for COVID-19 disease severity. Four of these 23 loci likely have an ethnicity-specific component.
Genome-wide association study (GWAS) signals in 11 loci colocalize with expression quantitative trait loci
(eQTLs) associated with the expression of 20 genes in 62 tissues/cell types (range: 1:43 tissues/gene),
including lung, brain, heart, muscle, and skin as well as the digestive system and immune system. We perform
genetic fine mapping to compute 99% credible SNP sets, which identify 10 GWAS loci that have eight or fewer
SNPs in the credible set, including three loci with one single likely causal SNP. Our study suggests that the
diverse symptoms and disease severity of COVID-19 observed between individuals is associated with variants across the genome, affecting gene expression levels in a wide variety of tissue types
A first update on mapping the human genetic architecture of COVID-19
- Author
- Abd Elghafar Mohamed S.
- Abdel-Aziz Mahmoud
- Abdollahi Hamed
- Abdullah Tala
- Abecasis Goncalo R.
- Abedalthagafi Malak
- Abul-Husn Noura S.
- Acquilini Donatella
- Adams Emma L.
- Adamsara Alireza
- Adeleye Olumide
- Adra Darin
- Afilalo Jonathan
- Afilalo Marc
- Afrasiabi Zaman
- Agüero Daiana
- Ahmadi Saeideh
- Akhtar Shaheen
- Aksentijevich Alexandra
- Al-Afghani Hani
- Al-Awdah Laila
- Alaamery Manal
- Alahmadey Ziab Z.
- Alaverdian Diana
- Alavere Helene
- Albader Anoud
- Albaiceta Guillermo M.
- Albakri Jehad K.
- AlBardis Hadeel
- Albeladi Maha
- Albesher Nour
- Albrich W. C.
- Albrich Werner
- AlDhawi Nouf
- Aleagha Afshar Etemadi
- Alghamdi Bader
- Alghamdi Jahad
- Ali Altaf
- Aliannejad Rasoul
- Aljawini Nora
- AlJohani Sameera
- Alkwai Sarah
- Allos Raili
- AlMalik Abdulaziz
- Almalki Faisal
- Almohammed Iman
- Almutairi Mansour
- Alotaibi Sara
- Alowayn Albandary M.
- Alqahtani Saleh
- Alqubaishi Fatimah
- Alrashed May
- Alshareef Abdulraheem
- Alsolm Ebtehal
- Alswailm Moneera
- AlZahrani Deema
- Amirsavadkouhi Ali
- Amitrano Sara
- Andolfo Immacolata
- Andretta Francesca
- Andreucci Elena
- Andrews Shea J.
- Anedda Federico
- Anemoli Valentina
- Angelantonio Emanuele Di
- Annis Aubrey
- Antinori Andrea
- Antoni Melania Degli
- Anwar Mohammad
- Arabi Yaseen M.
- Arciero Elena
- Armstrong Jacob
- Arning Nicolas
- Arranz Maria J.
- Arribas Elisa
- Artuso Rosangela
- Arumugam Prabhu
- Ascolillo Steven
- Ashraf Samina
- Atkinson Elizabeth G.
- Aucella Filippo
- Auld Daniel
- AZARZAR Samira
- Bachetti Tiziana
- Baillie J. Kenneth
- Balaconis Mary K.
- Baldassarri Margherita
- Ball Catherine A.
- Baltzell Asher Haug
- Band Gavin
- Bandini Maria
- Baraka Dona
- Baras Aris
- Baratti Stefano
- Barbieri Chiara
- Barda B.
- Bargagli Elena
- Barhoush Eman
- Barnes Kathleen C.
- Baroni Silvia
- Bartels Meike
- Bassetti Matteo
- Batini Chiara
- Baya Nikolas
- Beck Andrew
- Beckmann Noam D.
- Bedini Josep L.
- Bee Catherine E.
- Beguin Yves
- Belbin Gillian M.
- Belhaj Yasmine
- Beligni Giada
- Belisle Alexandre
- Belli Mary Ann
- Below Jennifer
- Benetti Elisa
- Bennett David
- Bergantini Laura
- Bergomi Paola
- Berkowitz Nathan
- Bernardo David
- Biagio Antonio Di
- Bianchi Francesco
- Bibert Stéphanie
- Bibert Stéphanie
- Biesecker Les
- Biscarini Filippo
- Blay Natalia
- Bochud M.
- Bochud P. Y.
- Bochud P. Y.
- Bochud Pierre-Yves
- Bochud Pierre-Yves
- Boezen Marike
- Boillat Noémie
- Boillat-Blanco N.
- Bottà Giordano
- Bouab Meriem
- Boughton Andrew P.
- Bouras K.
- Bradford Yuki
- Brahier T.
- Brassard Nathalie
- Breen Gerome
- Brenner Bluma
- Britvan Bari
- Brumpton Ben M.
- Bruno Raffaele
- Bruttini Mirella
- Bryant Sam
- Bryant Sam
- Buring Julie E.
- Busani Stefano
- Bussotti Maurizio
- Butler-Laporte Guillaume
- Butterworth Adam S.
- Buxbaum Joseph D.
- Caldarelli Gian Piero
- Callier Shawneequa
- Cameli Paolo
- Campbell Archie
- Campbell Archie
- Canaccini Anna
- Cantarini Luca
- Cantor Michael N.
- Capasso Mario
- Capitani Katia
- Cappelli Silvia
- Carella Massimo
- Carey Dave J.
- Carreras Anna
- Carriero Miriam Lucia
- Castaño-Vinyals Gemma
- Castelli Francesco
- Castori Marco
- Catena Emanuele
- Caulfield Mark J.
- Ceri Stefano
- Cerny A.
- Chamnanphon Monpat
- Chan Georgia
- Chang Xiao
- Chang Xiao
- Chariyavilaskul Pajaree
- Charney Alexander W.
- Chasman Daniel I.
- Chassot J.
- Chassé Michaël
- Chaudhary Kumardeep
- Chavan Sameer
- Chen Hung-Hsin
- Cheng Nathan
- Chetruengchai Wanna
- Chittoor Geetha
- Cho Judy H.
- Cho Kelly
- Choi Sam
- Chowdhury Maharun
- Chung Raymond
- Churchhouse Claire
- Chwialkowska Karolina
- Claassen Sabine
- Claringbould Annique
- Clerc O.
- Coignet Marie
- Coiro Gabriella
- Colligan Grainne
- Collins Brett L.
- Colobrán Roger
- Colombo Riccardo
- Conen A.
- Conticini Edoardo
- Cordioli Mattia
- Cordioli Mattia
- Corridi Marta
- Cortés Beatriz
- Cossarizza Andrea
- Coto Eliecer
- Coviello Domenico A.
- Croci Leonardo
- Croci Susanna
- Crook Derrick W.
- Crooks Kristy
- Crotti Lia
- Cullell Natalia
- Curtis Charles J.
- Cusick Caroline
- Cárcel-Márquez Jara
- Daga Sergio
- Dalmau David
- Daly Mark
- Daly Mark J.
- Danesh John
- Darcis Gilles
- Davis Lea
- Daya Michelle
- de Cid Rafael
- de Felipe Mimbrera Alicia
- de geus Eco E. J. C.
- de la Cal-Sabater Paloma
- DeDiego Marta L.
- Deelen Patrick
- Dei Simona
- Deloukas Panos
- Desanctis Elena
- Desgranges F.
- di Bartolomeo C.
- Dietl Beatriz
- Do Ron
- Dobaño Carlota
- Doddato Gabriella
- Domenico Paolo Di
- Domingo Carlos
- Domínguez-Mayoral Anna
- Donati Alice
- Donner Kati
- Durand Madeleine
- Durham Ceri
- D’Acremont V.
- D’Alessandro Miriana
- D’Arminio Monforte Antonella
- D’Mellow Kenton
- Earle Sarah G.
- Egger T.
- Eid Mohammed A.
- El-Jawhari Jehan J.
- El-Lawaty Walaa M.
- El-shanshory Mohamed R.
- El-Sherbiny Yasser M.
- Elhadidy Tamer A.
- Elnagdy Marwa H.
- Eltoukhy Madonna M.
- Emiliozzi Arianna
- Emma Duncan
- Erard Véronique
- Erard Véronique
- Esko Tõnu
- Estoppey Younes S.
- Fabbiani Massimiliano
- Falcone Marco
- Fallerini Chiara
- Farré Xavier
- Fava Francesca
- Fawns-Ritchie Chloe
- Fawns-Ritchie Chloe
- fawzy Mohammad S.
- Felemban Walaa A.
- Feng Yen-Chen Anne
- Feri Marco
- Fernandez-Cadenas Israel
- Ferreira Manuel A. R.
- Ferri Claudio
- Filipovic M.
- Filippidis P.
- Finer Sarah
- Finer Sarah
- Finucane Hilary
- Fiorentino Giuseppe
- Fiz-López Aida
- Forgetta Vincenzo
- Foucras S.
- Fowler Tom
- Franchi Federico
- Francisci Daniela
- Franco Giulianini
- Franke Lude
- Frediani Bruno
- Free Robert C.
- Frenckell Christian Von
- Friolet R.
- Frippiat Frédéric
- Frischknecht M.
- Frithiof Robert
- Frullanti Elisa
- Furini Simone
- Gabbi Chiara
- Gabrieli Arianna
- Gaddis Michael
- Galván-Femenía Iván
- Ganna Andrea
- Garcia-Aymerich Judith
- García-Clemente Marta
- García-Madrona Sebastian
- Gass Matthew C.
- Gatti Francesca
- Gaziano J. Michael
- Georges Michel
- Gettler Kyle
- Ghosh Biswarup
- Giannattasio Ferdinando
- Gignoux Christopher R.
- Giliberti Annarita
- Giorli Alessia
- Giot Jean-Baptiste
- Girardis Massimo
- Girshick Ahna
- Glessner Joseph R.
- Glessner Joseph T.
- Gofflot Stéphanie
- Goldstein Jacqueline I.
- Gomez Juan
- Gonseth Nussle S.
- González-Villa Esther
- Gori Marco
- Grassi Davide
- Green Robert C.
- Griffiths Chris
- Griffiths Christopher J.
- Grip Jonathan
- Guarnaccia Alessandra
- Guerrini Susanna
- Guidelli Luca
- Guillet A.
- Guindo-Martinez Marta
- Guiot Julien
- Guntz Julien
- Gupta Rahul
- Guturu Harendra
- Guyat-Jacques C.
- Guyatt Anna L.
- Guzman Charlotte
- Guéry B.
- Haefliger D.
- Hakonarson Hakon
- Hakonarson Hakon
- Halawani Roaa T.
- Harerimana Nadia
- Harris Jennifer R.
- Harthi Fawz Al
- Hasanato Rana
- Hayward Caroline
- Hayward Caroline
- Hegazy Mohamed A. F.
- Helgeland Øyvind
- Henry Danielle
- Hensen Kati
- Hiester Liam L.
- Hirankarn Nattiya
- Ho Yuk-Lam
- Hoggart Clive
- Hollox Edward J.
- Hong Eurie L.
- Horowitz Julie E.
- Hosseini Abdolmajid
- Hottenga Jouke Jan
- Huang Qin Qin
- Huang Qin Qin
- Huckins Laura M.
- Huffman Jennifer E.
- Hultström Michael
- Hunt Karen A.
- Hunt Karen A.
- Hurles Matt
- Hussain Shapna
- Huynen Pascale
- Hveem Kristian
- Hügli O.
- Iglesias Lara Lloret
- Ikram M. Arfan
- Iolascon Achille
- Islam Kamrul
- Itan Yuval
- Jacques Jessica
- Jantarabenjakul Watsamon
- Jaquet M.
- Jiménez-Xarrié Elena
- John Catherine
- Jordan Daniel M.
- Josyula Navya Shilpa
- Jung Junghyun
- Justice Anne E.
- Kahlert C. R.
- Kallaste Anne
- Kamdar Dhryata
- Kamdar Dhryata
- Kampouri E. E.
- Kanai Masahiro
- Kanai Masahiro
- Karczewski Konrad J.
- Karjalainen Juha
- Karlson Elizabeth W.
- Karp Avromie
- Kaufmann Daniel E.
- Kaunisto Mari
- Keller Katherine
- Kenny Eimear E.
- Kerchberger V. Eric
- Kerr Shona M.
- Khafaga Walid T.
- Khan Ahsan
- Khan Amara
- Khattab Amin K.
- Kimchi Nofar
- King Daniel
- Kisand Kai
- Kivinen Katja
- Kleger G-R.
- Knapp C.
- Knight Spencer
- Koelling Nils
- Kogevinas Manolis
- Koskelainen Sami
- Kosmicki Jack A.
- Kousathanas Athanasios
- Kristiansson Kati
- Laane Edward
- Labkowsky Alexander
- Laisk Triin
- Lambermont Bernard
- Lannepoudenx Y.
- Lanting Pauline
- Lathrop G. Mark
- Lauren Petty E.
- Laurent Laetitia
- Lavery Cath
- Leader Joseph B.
- Lee Paul H.
- Lee Sang Hyuck
- Lee Sulggi
- Lee Yunsung
- LeFaive Jonathon
- Lena Fabio
- Lepage Pierre
- Lepamets Maarja
- Lerner Robin
- Levy Tess
- Li Binglan
- Li Kevin W.
- Li Rui
- Liao Rachel G.
- Lin Shang-Kuan
- Lipcsey Miklos
- Lista Mirjam
- Llucià-Carol Laia
- Loos Ruth J. F.
- Lopera Esteban
- Lorubbio Maria
- Lozano Francisco
- Lu Wenhan
- Lucas Anastasia
- Luchi Sauro
- Ludovisi Serena
- Läll Kristi
- Léonard Philippe
- MacArthur Daniel
- MacLaughlin Bev
- Maggiolo Franco
- Magnus Per
- Mahmoud Ebrahim S.
- Malaise Olivier
- Mamlouk Noor
- Mancarella Sandro
- Mandalà Marco
- Mangino Massimo
- Mangul Serghei
- Manson JoAnn E.
- Mantovani Stefania
- Manuel O.
- Marcantonio Simona
- MARCHETTI Oreste
- Marciano Carmen
- Mari Francesca
- Maricic Tomislav
- Martin Alicia R.
- Martin Hilary
- Martin Hilary C.
- Martinelli Enrico
- Martí-Fàbregas Joan
- Martín-Nalda Andrea
- Martínez Alba Parra
- Masjuan Jaime
- Mason Dan
- Mason Dan
- Massadeh Salam
- Masucci Luca
- Mazzei Maria Antonietta
- McCormick Joseph B.
- McCurdy Shannon
- Medina-Gomez Carolina
- Meigs James B.
- Meloni Ilaria
- Menatti Elisabetta
- Mencarelli Maria Antonietta
- Menéndez-Valladares Paloma
- Mercader Josep
- Mercader Josep Maria
- Merla Giuseppe
- Metsalu Kristjan
- Metspalu Andres
- Meuris Christelle
- Meuwly J. Y.
- Miah Shefa
- Milani Lili
- Miraglia Federica Gaia
- Mirshahi Tooraj
- Misset Benoît
- Moahmed Hanteera S.
- Moghaddam Seyed Behrooz Mohseni
- Mohamed Attia A. S.
- Mondelli Mario Umberto
- Monica Matteo Della
- Montagnani Francesca
- Montillier P.
- Mooser Vincent
- Moreno Victor
- Morris Marcela
- Morrison David R.
- Moutschen Michel
- Moutsianas Loukas
- Muiño Elena
- Munting A.
- Murphy Shawn N.
- Mussini Cristina
- Mutairi Amal Al
- Márquez Leonardo
- Mägi Reedik
- Naaber Paul
- Naderpour Zeinab
- Nadkarni Girish N.
- Nakanishi Tomoko
- Neale Benjamin M.
- Neale Benjamin M.
- Negro T. Rochat
- Nencioni Cesira
- Neofytos Dionysios
- Neofytos Dionysios
- Newman Bill
- Nguyen Huy
- Niavarani Ahmadreza
- Niblo Kristi
- Niemi Mari E. K.
- Nilaratanakul Voraphoj
- Nivard Michel M. G.
- Nkambul Lindo
- Nkambul Lindokuhle
- Nkambule Lindokuhle
- Nkambule Lindokuhle
- North Kari
- Noto Keith
- Nussle Semira Gonseth
- Oddo M.
- Odhams Christopher A.
- Ognibene Agostino
- Okasha Kamal
- Oliveira Maureen
- Ori Anil P. S.
- O’Connell Anne Marie
- O’Donnell Christopher J.
- O’Mahony L.
- O’Reilly Paul
- Paciosi Francesco
- Packer Richard J.
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- Pagani J. L.
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- Palmieri Maria
- Palotie Aarno
- Palotie Aarno
- Pancrazzi Alessandro
- Panese Sandro
- Pantet O.
- Papadimitriou-Olivgeris M.
- Parati Gianfranco
- Parisi Saverio Giuseppe
- Park Danny
- Parravicini Pierpaolo
- Partha Raghavendran
- Pasko Dorota
- Pathak Gita A.
- Pavlovic Milos
- Peloso Gina
- Perez Emma F.
- Perez-Tur Jordi
- Perna Rita
- Perola Markus
- Perrella Antonio
- Perret A.
- Peruggia Michael
- Pessina Gloria
- Pesukova Jaana
- Peterson Pärt
- Petitjean Louis
- Petrocelli Paola
- Phokaew Chureerat
- Piacentini Paolo
- Picchiotti Nicola
- Pietro Massimo Di
- Pigazzini Sara
- Pinoli Pietro
- Pinto Anna Maria
- Pirinen Matti
- Piscopo Carmelo
- Planas Anna M.
- Polikowski Hannah
- Polimanti Renato
- Polymeropoulos Christos
- Polymeropoulos Mihael H.
- Polymeropoulos Vasilios
- Pongpanich Monnat
- Porteous David J.
- Porteous David J.
- Portopena L.
- Poscente Monica
- Preuss Michael
- Priest James
- Przychodzen Bartlomiej P.
- Pugin J.
- Putchareon Opass
- Puthanakit Thanyawee
- Puusepp Mairo
- Quinodoz Mathieu
- Quinodoz Mathieu
- Quiros-Roldan Eugenia
- Rader Daniel
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- von Hohenstaufen Kathrin Aprile
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- Wang Xueyang
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- Warmerdam Robert
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- Williams Alexander T.
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- Wolford Brooke
- Wolford Brooke
- Wolford Brooke
- Woolley Ann E.
- Wozniak H.
- Wright John
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- Xue Xiaoqing
- Yadav Ashish
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- Zhang Miao
- Zhao Jing Hua
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- Zlatopolsky Menachem
- zu Bentrup F. Meyer
- Zucchi Patrizia
- Zyndorf Marissa
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- Åsvold Bjørn Olav
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/2022
- Field of study
peer reviewe
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
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- Rehnström Karola
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- Rhodes Christopher J.
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- Rosser Elisabeth
- Rosser Elisabeth
- Roughley Catherine
- Rue-Albrecht Kevin
- Saggar Anand
- Samant Shalaka
- Samarghitean Crina
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- Sanchis-Juan Alba
- Sanchis-Juan Alba
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- Sandford Richard
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- Scheffer Ingrid E.
- Schiffels Stephen
- Schmidts Miriam
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- Schulman Sol
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- 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)
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
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- 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
The Effect of bovine colostrum supplementation on salivary IgA in distance runners
- Publication venue
- Publication date
- 01/01/2006
- Field of study
Health Risks and Adverse Reactions to Functional Foods
- Author
- Publication venue
- 'Informa UK Limited'
- Publication date
- Field of study