20 research outputs found
A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus
- Author
- Aldave Anthony J
- Ali Manir
- Baird Paul N
- Burdon Kathryn P
- Bykhovskaya Yelena
- Cao Ke
- Chan Elsie
- Charlesworth Jac C
- Chen Yii-Der Ida
- Choquet Hélène
- Craig Jamie E
- Daniell Mark D
- Davidson Alice E
- Dudakova Lubica
- Faro Valeria Lo
- Farraj Layal Abi
- Geerards Annette JM
- Habeeb Mahmoud
- Hammond Chris J
- Hardcastle Alison J
- Haudum Christoph W
- Hewitt Alex W
- Hysi Pirro G
- Inglehearn Chris F
- Iyengar Sudha K
- Jorgenson Eric
- Khawaja Anthony P
- Klaver Caroline CW
- Krauss Ronald M
- Li Xiaohui
- Liskova Petra
- Lopez Karla E Rojas
- Lucas Sionne EM
- MacGregor Stuart
- McComish Bennet J
- Meester-Smoor Magda A
- Melles Ronald B
- Mills Richard A
- Mitchell Paul A
- O'Brart David
- Patasova Karina
- Pontikos Nikolas
- Rabinowitz Yaron S
- Rahi Jugnoo S
- Ramdas Wishal D
- Rice Aine
- Richardson Andrea J
- Rotter Jerome I
- Sahebjada Srujana
- Siddiqui Salina
- Simcoe Mark J
- Skalicka Pavlina
- Szczotka-Flynn Loretta
- Taylor Kent D
- Tenen Abi
- Theusch Elisabeth
- Toomes Carmel
- Tuft Stephen J
- Van Dooren Bart TH
- Wang Jie Jin
- Yarrand Darioush
- Yin Jie
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/03/2021
- Field of study
Keratoconus is characterised by reduced rigidity of the cornea with distortion and focal thinning that causes blurred vision, however, the pathogenetic mechanisms are unknown. It can lead to severe visual morbidity in children and young adults and is a common indication for corneal transplantation worldwide. Here we report the first large scale genome-wide association study of keratoconus including 4,669 cases and 116,547 controls. We have identified significant association with 36 genomic loci that, for the first time, implicate both dysregulation of corneal collagen matrix integrity and cell differentiation pathways as primary disease-causing mechanisms. The results also suggest pleiotropy, with some disease mechanisms shared with other corneal diseases, such as Fuchs endothelial corneal dystrophy. The common variants associated with keratoconus explain 12.5% of the genetic variance, which shows potential for the future development of a diagnostic test to detect susceptibility to disease
Effects of antiplatelet therapy on stroke risk by brain imaging features of intracerebral haemorrhage and cerebral small vessel diseases: subgroup analyses of the RESTART randomised, open-label trial
- Author
- Abano Nenette
- Abbdul-saheb Mudhar
- Adedoyin Temi
- Adell Victoria
- Adesina Tolu
- Adie Katja
- Adil-Smith Jennifer
- Ahmad Nasar
- Ahmed Ashraf
- Ahmed Iman
- Al-Mayhani Talal
- Al-Shahi Salman Rustam
- Al-Shahi Salman Rustam
- Alam Mohammad Irfan
- Albazzaz Mo
- Ali Ali
- Alipio Francis
- Allen Christopher
- Allison Joanna
- Amey Isobel
- Amis Elaine
- Amlani Sageet
- Amoils Shannon
- Amor Kelly
- Anderson Rosemary
- Andole Sreeman
- Anjum Talat
- Ankolekar Sandeep
- Annamalai Arunkumar
- Anthony Alpha
- Anversha Ajmal
- Anwar Ijaz
- Anwar Sajjad
- Appleton Jason
- Argandona Lucia
- Armitage Jane
- Ashton Amy
- Atkinson Natalie
- Auld Grace
- Avis Joanne
- Aweid Basaam
- Ayres Georgina
- Azhar Khalid
- Bagnall Caroline
- Baig Farrukh
- Baigent Colin
- Bailey Duncan
- Baird Yolanda
- Bakawala Rehana
- Baker John
- Baker Pauline
- Balazikova Olga
- Balian Linda
- Baliga Vidya
- Balitska Olesia
- Ball Julie
- Ball Margaret
- Ballantine Robert
- Bamford John
- Banaras Azra
- Barber Mark
- Barbon Emma
- Barker James
- Barr Charlotte
- Barrie Elizabeth
- Barron Luke
- Barry Adrian
- Bateman Gavin
- Bates Michelle
- Bathula Rajaram
- Battersby-Wood Emma
- Bayliss Pauline
- Beadle Hannah
- Bearne Helen
- Beaty Teresa
- Beaves Emily
- Bell Angela
- Bell Jo
- Bell Murdina
- Bellfield Ruth
- Beranova Eva
- Bergin Adrian
- Bhakri Harbens
- Bhalla Ajay
- Bharaj Kiranjit
- Bhargava Maneesh
- Bhaskaran Biju
- Bhatnagar Priya
- Bhatnagar Priya
- Birchall Kathryn
- Birns Jonathan
- Black Toby
- Blades Alex
- Blair Caroline
- Blair Caroline
- Blair Gordon
- Blane Sujata
- Blank Catrin
- Blight Adrian
- Board Joanne
- Board Sarah
- Bokhari Maria
- Bond Kirsty
- Bowring Angela
- Boxall Cherish
- Breeds Joanna
- Brew Helen
- Brezitski Maria
- Bridger Hayley
- Brodie Fiona
- Brotherton Lucy
- Broughton David
- Brown Claire
- Brown Ellen
- Brown Pauline
- Brown Sarah
- Bruce David
- Buchanan David
- Buck Amanda
- Buckle Steve
- Buckle Steve
- Buckley Clare
- Bunea George
- Burger Ilse
- Burgess Laura
- Burgess Seona
- Burssens Evelyne
- Butler Adrian
- Butler Donna
- Butler Rebecca
- Butterworth-Cowin Nicola
- Button Denise
- Buxton Jean
- Byrne Anthony
- Cageao Julie
- Caine Sarah
- Campbell Robert
- Carpenter Michael
- Carpio Racquel
- Carrie Johanna
- Cassidy Tim
- Causley Chelsea
- Chadbourn Indra
- Chadha Dinesh
- Chamberlain Angela
- Chan kelly
- Chandrakumar Aberami
- Chapman Kath
- Chapman Nicola
- Charles Bethan
- Chatterjee Kausic
- Chaudhry Afnan
- Chauhan Meena
- Chenna Srikanth
- Cherian Suja
- Cheripelli Bharath Kumar
- Chopra Neha
- Choulerton James
- Choy Lillian
- Clarke Brian
- Clarke Caroline
- Clarke Judith
- Clarke Natasha
- Clarke Rebecca
- Clarke Samantha
- Clarkson Emma
- Clay Caroline
- Clayton Susan
- Clayton-Evans Lisa
- Cluckie Gillian
- Cochrane Helen
- Codd Laura
- Cohen David
- Collins Kayleigh
- Connor Lynda
- Constantin Carmen
- Cook Angela
- Cooper Martin
- Copeland Claire
- Cosier Tracey
- Courtauld Gillian
- Couser Mandy
- Coward Lucy
- Cowie Linda
- Cox Chantel
- Cox Chloe
- Cox Penelope
- Crabtree Karen
- Crawford Pam
- Crawford Susan
- Creeden Robyn
- Crisp Sarah
- Cronin Julie
- Crook Luci
- Crosbie Caroline
- Crouch Nichola
- Crown Rachel
- Crowther Hannah
- Cuddy Sarah
- Cuenoud Larissa
- Cullen Claire
- Culmsee Charlotte
- Cunningham James
- Cunningham Mishell
- Cvoro Vera
- Dacey Lynne
- Dakin Katy
- Dallol Bander
- Dangri Puneet
- Datta Prabal
- Davey Richard
- David Anette
- David Owen
- Davies Caroline
- Davies Ruth
- Davies Silvie
- Davis Fiona
- Davis Michelle
- Day Nicola
- Dayal Nilofer
- De Berker Henry
- Deary Ann
- Denic Hayley
- Dennis Martin
- Dennis Martin S
- Denniss Carol
- Devine Joseph
- Devitt Nicola
- Dewar Richard
- Dhakal Mahesh
- Dhar Saikat
- Dickinson Christina
- Dickson Christine
- Dima Sofia
- Dinsmore Lynn
- Dixon Lynn
- Dobson Tracey
- Dodd Angela
- Dodd Emily
- Doherty Mandy
- Doherty Mandy
- Donaldson Denise
- Donnelly Richard
- Doubal Fergus
- Dow Lindsey
- Downham Susan
- Doyle Clare
- Doyle Donna
- Drever Jonathan
- du Plessis Johann C
- du Plessis Johannes
- Dube Judith
- Duberley Stephen
- Dunn Linda
- Dunne Karen
- Durairaj Ramesh
- Durman Helen
- Dutta Dipankar
- Dynan Kevin
- Edwards Mandy
- Egerton Shuna
- Eglinton Charlotte
- Eglinton Charlotte
- El Tawil Salwa
- Elfandi Khaled
- Elliot Jennifer
- Elliott Emma
- Ellis Sam
- Emberson Jonathan
- Emsley Hedley
- England Timothy
- Epstein Daniel
- Erande Renuka
- Erumere Esther
- Esisi Bernard
- Esisi Bernard
- Esson Derek
- Esson Derek
- Evans Rachel
- Evans Sue
- Eveson David
- Ewing Jordan
- Fathima Razik
- Fawcett Michelle
- Feerick Shez
- Fennelly Ruth
- Ferdinand Phillip
- Findlay Paul
- Finlay Sarah
- Finney Kay
- Fitzell Pauline
- Fitzsimmons Paul
- Fletcher Glyn
- Fletcher Jo
- Fong Rosanna
- Foot Jayne
- Foote Leanne
- Ford Gary
- Foster Eliza
- Fotherby Ken
- Fox Charlotte
- Francia Nina
- Francis Jobbin
- Fraser Ruth
- Fraser Ruth
- Fuller Tracy
- Fulton Ailsa
- Furnace Jacqueline
- Gadapa Naveen
- Gainard Glyn
- Gainsborough Nicola
- Gallagher Jill
- Gallagher Louise
- Gallifent Rachel
- Gamble Ed
- Garcia Tatiana
- Gardener Léjeune
- Garfield-Smith Joanne
- Garside Mark
- Gartrell Imogen
- Gascoyne Rachel
- Gattringer Thomas
- Gautam Nikki
- Gaylard Jane
- Gbadamoshi Lukuman
- Geraghty Olivia
- Ghaly George
- Ghatala Rita
- Ghosh Sandip
- Giallombardo Elio
- Gilham Ellie
- Gilmour Danielle
- Gilzeane Nicola
- Glass Jon
- Gleave Laura
- Glover Rachel
- Godfrey Margi
- Goff Anita
- Goorah Neetish
- Gott Valerie
- Gow Heather
- Graham Carol
- Graham Ruth
- Gray Jane
- Green Carole
- Greenwood Richard
- Gregory Bindu
- Greig Jill
- Grimwood Gemma
- Grocott Jeanette
- Grue Rebecca
- Gulliver Diane
- Guo Fenglin
- Gupwell Karin
- Guthrie Lucy Belle
- Guy Helen
- Guyler Paul
- Hague Adam
- Haider Syed
- Hairsine Brigid
- Hakim Eluzai
- Hall Andrea
- Halse Omid
- Handley Dominic
- Hann Gail
- Hannon Niamh
- Hansen Christian
- Haque Mohammad
- Hardwick Anne
- Harkness Kirsty
- Harrington Frances
- Harrington-Davies Yasmin
- Harrison Louise
- Harrison Melanie
- Harrison Thomas
- Harston George
- Harvey Kirsten
- Harvey Miriam
- Hassan Ahamad
- Hassan Hardi
- Havard Diane
- Hayes Anne
- Hayhoe Helen
- Hayman Rachel
- Hays Carole
- Hazel Beth
- Hedstrom Amanda
- Hedstrom Amanda
- Hemsley Anthony
- Henry Margo
- Herman Jane
- Hervey Simon
- Hewitt Jonathan
- Hiden Joanne
- Hogan Caroline
- Hogg Valerie
- Holden Melinda
- Holmes Clare
- Homan Jane
- Hooley Michaela
- Horan Kathleen
- Horton Sarah
- Hostettler Isabel
- Hove Dionne
- Howaniec Laura
- Howard Gabriella
- Howard Joanne
- Howard Peter
- Howcroft Deborah
- Howe Jo
- Huang Xuya
- Huggett Isabel
- Hughes Chloe
- Hughes Claire
- Hughes Tom
- Humphreys Louise
- Humphries Fiona
- Hunt Benjamin
- Hunt Nicholas
- Hunter Annemarie
- Hunter Neil
- Hurford Frances
- Hurley Jennifer
- Hussain Malik
- Hutchison Aidan
- Hyams Benjamin
- Hyatt Lisa
- Imam Javed
- Ingham Andrea
- Ingram Tanya
- Innes Karen
- Iqbal Arshi
- Iqbal Mohammad Shazad
- Irvine Janice
- Ispoglou Sissy
- Ivatts Simone
- Jackson Benjamin
- Jackson Linda
- Jagger Jenny
- Jagpal Baljit
- James Ali
- James Claire
- James Martin
- Jarapa Rowilson
- Jarrett David
- Jeffs Carol
- Jelley Benjamin
- Jenkins Colin
- Jennings-Preece Karla
- Jeyaraj Naomi
- Jha Ratneshwari
- Jinks Emma
- Johnes Mary
- Johnson Sharon
- Jones Ifan
- Jones Ifan
- Jones Kirsty
- Jones Rachael
- Jones Stephanie
- Jones Terry
- Jones Val
- Jordan Carla
- Jose Deepa
- Jose Josin
- Joshi Yogish
- Joshi Yogish
- Joyson Anu
- Jupp Becky
- Justin Frances
- Kakar Puneet
- Kalathil Latheef
- Kalladka Dheeraj
- Kamara Christine
- Kambafwile Mary
- Kane Ingrid
- Kar Arindam
- Keegan Breffni
- Keeling Elizabeth
- Keenan Samantha
- Kelavkar Shyam
- Kelly Christine
- Kelly Debs
- Kelly Jim
- Kelly Siobhan
- Keltos Marketa
- Kennedy James
- Kennedy Kate
- Kenton Antony
- Kerin Lourda
- Kerr Enda
- Kerr Gillian
- Keshvara Rekha
- Khan Mohammad
- Khan Shagufta
- Khan Usman
- Khan Uzma
- Kibutu Faith
- King Sam
- Kingwell Hayley
- Kini Manohar
- Klaasen Katrina
- Knops Kerstin
- Krishnamoorthy Shrivakumar
- Krishnamurthy Ramesh
- Krishnamurthy Vinodh
- Krishnan Kailash
- Krishnan Manju
- Krommyda Magdalini
- Kullane Sagal
- Kumar Balakrishna
- Kumar Pradeep
- Kunhunny Swapna
- Lam Man Yee
- Lambert Caroline
- Landers Geraldine
- Langhorne Peter
- Lasserson Daniel
- Latter Laura
- Law Zhe
- Lawrence Tara
- Lawson Heidi
- Leason Sandra
- Lee Stephanie
- Leggett Jacqui
- Lenti Giulia
- Lerpiniere Christine
- Lerpiniere Christine
- Licenik Radim
- Lindert Ralf
- Little Victoria
- Littleton Edward
- Ljubez Anja
- Loganathan Thayalini
- Longland Barbara
- Lopez Paula
- Lovelock Caroline
- Lowe Gordon
- Lucas Linda
- Lucas Suzanne
- Luder Robert
- Lyjko Sue
- Maanoosi Mehran
- Maatouk Ahmad
- Macaden Ashish
- MacInnes Brian
- MacLennan Beverly
- Macleod Malcolm
- MacLeod Mary
- MacLiver Linda
- MacRaild Allan
- Maddula Mohana
- Madigan Barbara
- Maguire Holly
- Maguire Stuart
- Maiden Susan
- Majis Arshad
- Majmudar Nikhil
- Makawa Linetty
- Mangion David
- Manning Lisa
- Manoj Aravind
- Mardania Rina
- Marigold James Richard
- Markova Skarlet
- Marks Katherine
- Marsden Tracy
- Marshall Sally
- Martin Irene
- Mashate Sheila
- Mason Cathy
- Mate Abhijit
- Mathieson Philip
- Matias Oliver
- Matthews Christopher
- Maund Bev
- McAlpine Christine
- McArdle Damian
- Mcauley Sean
- McCann Stephanie
- McCarron Mark
- McClelland Beverley
- McCormick Katrina
- McCormick Katrina
- McDonald Shanni
- McDonald Susan
- Mcgee Joanne
- McGhee Caroline
- McGill Connor
- McGrath Aileen
- McIlmoyle James
- McKee Jacqueline
- McLoughlin Alison
- McVerry Ferghal
- Mead Denise
- Mead Gillian
- Meir Julie
- Menon Nisha
- Mercer Lily
- Metcalf Kneale
- Miller Keniesha
- Miller Richard
- Milligan Josette
- Minks David
- Minks David P.
- Miriam Skelton
- Mistri Amit
- Mitchell Jennifer
- Mitra Dipayan
- Mitra Dipayan
- Mohammed Niaz
- Mohd Nor Azlisham
- Mokoena Betty
- Moores Andrew
- Moqsith Mohammed
- Morell Jordi
- Moreton Fiona
- Morgan Debbie
- Moroney Helen
- Morse Bethan
- Moseley Sally
- Motherwell Nichola
- Moynihan Barry
- Mpelembue Mushiya
- Mudd Paul
- Muddegowda Girish
- Muir Keith
- Mukherjee Indranil
- Murali Elodie
- Murphy Peter
- Murray Gordon D
- Musarrat Kashif
- Myint Min
- Naeem Muhammad
- Naing Zin
- Nair Anand
- Nallasivan Arumugam
- Nasar Mohammad
- Nasim Ashraf
- Naylor Charde
- Needle Ann
- Nelson Sandra
- Newby David E
- Newton Sophie
- Ng Kheng Xiong
- Ngo David
- Nguyen Vinh
- Ngwako Mmua
- Ni Hlaing
- Nicholas Paul
- Nicolson Anne
- Niranchanan Rangah
- Nisar Nabeela
- Njoku Kelechi
- Nott Claire
- Nott Claire
- Nozedar Tarn
- Nyabadza Sheila
- O'Brien Eoin
- O'Brien Richard
- O'Brien Richard
- O'Connell Susan
- O'Loughlin Victoria
- O'Reilly Joanna
- O'Toole Sarah
- OConnell Janice
- Oji Nnebuife
- Orath Prabakaran Rajalakshmi
- Orefo Chukwuka
- Orugun Enoch
- Osborn Mairead
- Osborne Emily
- Oshodi Anne
- Osman Ahmed
- Ovington Catherine
- Owings Paula
- Owoyele Emmanuelle
- Owusu-Agyei Peter
- Pai Yogish
- Palmer Jeb
- Papavasileiou Vasileios
- Parakramawansha Ruwan
- Parker Richard
- Parry Anthea
- Parry-Jones Adrian
- Pasco Kath
- Patel Bhavini
- Patel Champa
- Patel Farzana
- Patel Krishna
- Patterson Chris
- Paulton Ruth
- Pawley Corinne
- Peixoto Cassilda
- Penge Justin
- Perez Jane
- Perfitt Rebekah
- Perkins Charlotte
- Perry David
- Perry Jack
- Persad Nicola
- Peters Jenny
- Pettitt Kerry
- Phiri Duke
- Pitt-Ford Alexandra
- Pitt-Kerby Tressy
- Plewa Catherine
- Poku Philip
- Ponnambath Suheil
- Poultney Una
- Pound Susan
- Power Michael
- Pressly Vanessa
- Price Fiona
- Proeschel Harald
- Punekar Shuja
- Punter Martin
- Pusalkar Aparna
- Putterill Janet
- Quinn Leanne
- Quinn Outi
- Qureshi Sammie
- Ragab Suzanne
- Raghunathan Senthil
- Rahman Bithi
- Rai Baljinder
- Raj Sonia
- Rajapakse Anoja
- Rajkumar Chakravarthi
- Ramachandran Sankaranarayana
- Ramadan Hawraman
- Ramshaw Alex
- Rana Pratap
- Randall Marc
- Rashed Khalid
- Rashmi Sindhu
- Ravenhill Garth
- Rayessa Rayessa
- Reckless Ian
- Reddan Julie
- Reddan Julie
- Redgrave Jessica
- Redjep Ozlem
- Remegoso Alda
- Richard Bella
- Richards Emma
- Rinkel Gabriel
- Roberts Josh
- Robinson Matthew
- Robinson Naomi
- Rodgers Alicia
- Rodrigues Mark A
- Rodriguez Aryelly
- Roffe Christine
- Roffe Jack
- Roganova Tatjana
- Rogers Emily
- Rogers Gill
- Rojas Javier
- Ross Sarah
- Roughan Caroline
- Rudd Tony
- Rudenko Hannah
- Saada Janak
- Saastamoinen Kari
- Sajid Mahmud
- Sakka Eleni
- Salehin Maqsud
- Salek-Haddadi Afraim
- Salih Isam
- Sally Moore
- Sandercock Peter A G
- Sangombe Mirriam
- Sangster Graeme
- Sanyal Ranjan
- Sarah Procter
- Sarah Procter
- Sattar Naweed
- Sattar Saira
- Saulat Afaq
- Saulat Afaq
- Schofield Christine
- Schulz Ursula
- Schumacher Natasha
- Schwarz Stefan
- Seagrave Samantha
- Sekaran Lakshmanan
- Sesay Juliana
- Sethuraman Sakthivel
- Shackcloth Daniela
- Shah Alex
- Shah Sweni
- Shahmehri Shahrzad
- Sharma Nikhil
- Sharpe Simon
- Shaw Kelly Marie
- Shaw Louise
- Sheikh Saima
- Shekhar Raj
- Shelton Faye
- Shinh Naval
- Shread Ian
- Shukla Avani
- Siddegowda Prasad
- Siddiq Muhammad
- Siddiqui Amber
- Siddiqui Anwer
- Sigsworth Andrew
- Simon Rohan
- Sims Don
- Singh Arun
- Sinha Devesh
- Skinner Helen
- Slade Peter
- Smart Amanda
- Smith Andrew
- Smith Fiona
- Smith Gemma Marie
- Smith Simon
- Smith Wilma
- Smyth Nigel
- Spencer Jayne
- Sprigg Nikola
- Sprigg Nikola
- Srinivasan Meena
- Stafford Samantha
- Stafford Samantha
- Stanners Andrew
- Steele Amy
- Stephen Jacqueline
- Stephens Claire
- Stevens Angela
- Stevens Stephanie
- Stevenson Sarah
- Stewart Kelvin
- Stocks Kathy
- Stone Andrew
- Storton Sharon
- Strain David
- Subramonian Santhosh
- Sudlow Cathie
- Sudlow Cathie L M
- Sukdeo Varthi
- Sullivan Frank
- Sultan Sulaiman
- Suttling Anne
- Sutton Claire
- Sutton Patrick
- Sutton Victoria
- Sword Jane
- Sykes Lucy
- Symonds Stuart
- Szabo Susan
- Tallantyre Emma
- Tanate Alfonso
- Tandy Jane
- Tate Margaret
- Tauro Suzanne
- Tayler Michelle
- Taylor Pat
- Taylor Vicky
- Teal Rachel
- Temple Natalie
- Thant Hlaing
- Thavanesan Kamy
- Thomas Isobel
- Thomas Kelly
- Thomas Philip
- Thomas Sarah
- Thompson Philip
- Thompson Susan
- Thompson Teresa
- Thompson-Jones Helen
- Thomson Audrey
- Thornthwaite Sarah
- Thorpe Kevin
- Tilley Victoria
- Tiwari Divya
- Tomlin Dawn
- Tomlinson Benjamin
- Treadwell Shelley
- Tribbeck Michele
- Trippier Sarah
- Triscott Claire
- Triscott Claire
- Tryambake Dinesh
- Tucker Laura
- Tucker Susan
- Turfrey Jennifer
- Tysoe Sharon
- Ullah Khalil
- Valentine Stacey
- van Someren Chloe
- Varquez Resti
- Vasileiadis Evangelos
- Vassallo Joseph
- Venter Marius
- Veraque Emelda
- Verrion Anna
- Vettimootal Johnson Venetia
- Vickers Carinna
- Walford Jamie
- Walker Allan
- Walker Marion
- Walker Pauli
- Walker Susannah
- Wallace Aine
- Wallace Rebecca
- Wallace Rebecca
- Walstow Deborah
- Walter Deborah
- Walters Ashleigh
- Wani Mushtaq
- Ward Deborah
- Wardlaw Joanna M
- Watchurst Caroline
- Waterfield Kelly
- Waterfield Kelly
- Watson Fran
- Waugh Dean
- Webb Tom
- Webber Adam
- Webster Timothy
- Weinling Marie
- Weir Nic
- Weir Pauline
- Welch Angela
- Werring David
- Werring David J
- Whitcher Alison
- White James
- White Julie
- White Philip M
- White Susan
- Whiteley William
- Whiteley William N
- Whiteman Jessica
- Whiteman Jessica
- Whiting Robert
- Whittamore Katherine
- Wiggam Ivan
- Wilding Peter
- Wilkes Gwendoline
- Wilkinson Mark
- Willberry Angela
- Williams Carol
- Williams Rebecca
- Williams-Yesson Barbara
- Willmot Mark
- Wilson David
- Wilson Duncan
- Wilson Jenny
- Wilson Lisa
- Wilson Sarah
- Wiltshire Alison
- Wood Diane
- Wood Edith
- Wood Lisa
- Woodward Stephen
- Wright Fiona
- Wroath Belinda
- Wynter Inez
- Yadava Rajendra
- Yip Brigitte
- Young Andrew
- Zachariah George
- Zahoor Tajammal
- Zoe Mellor
- Publication venue
- 'Elsevier BV'
- Publication date
- 22/05/2019
- Field of study
Background
Findings from the RESTART trial suggest that starting antiplatelet therapy might reduce the risk of recurrent symptomatic intracerebral haemorrhage compared with avoiding antiplatelet therapy. Brain imaging features of intracerebral haemorrhage and cerebral small vessel diseases (such as cerebral microbleeds) are associated with greater risks of recurrent intracerebral haemorrhage. We did subgroup analyses of the RESTART trial to explore whether these brain imaging features modify the effects of antiplatelet therapy
Clonal chromosomal mosaicism and loss of chromosome Y in elderly men increase vulnerability for SARS-CoV-2
- Author
- Abellán Javier
- Acosta-isaac René
- Aguado Jose María
- Aguilar Carlos
- Aguilera-albesa Sergio
- Ahmadi Sabbagh Abdolah
- Alba Jorge
- Albu Sergiu
- Alcalá-gallardo Karla A. M.
- Alcoba-florez Julia
- Alcolea Batres Sergio
- Algarin-lara Holmes Rafael
- Almadana Virginia
- Almeida Julia
- Almoguera Berta
- Alonso María R.
- Andreu-bernabeu Álvaro
- Antonijoan Maria Rosa
- Arana-arri Eunate
- Aranda Carlos
- Arango Celso
- Araque Carolina
- Araujo Izabel M. T.
- Araujo Nathalia K.
- Arcanjo Ana C.
- Arnaiz Ana
- Arnalich Fernández Francisco
- Arranz María J.
- Arribas López José Ramón
- Artiga Maria-jesús
- Avello-malaver Yubelly
- Ayuso Carmen
- Balagué-dobón Laura
- Baldion Ana María
- Ballina Martín Belén
- Baptista-rosas Raúl C.
- Barranco-díaz Andrea
- Barreda-sánchez María
- Barrera-penagos Viviana
- Belhassen-garcia Moncef
- Bernal Enrique
- Bernal-bello David
- Bezerra Joao F.
- Bezerra Marcos A. C.
- Blanca-lópez Natalia
- Blancas Rafael
- Boix-palop Lucía
- Borobia Alberto
- Bravo Elsa
- Brion María
- Brochado-kith Óscar
- Brugada Ramón
- Bustos Matilde
- Cabello Alfonso
- Calbo Esther
- Calderón Enrique J.
- Camacho Shirley
- Campos Marcela C.
- Carbonell Cristina
- Cardona-huerta Servando
- Carioca Antonio Augusto F.
- Carpio Segura Carlos
- Carracedo Ángel
- Carratto Thássia M. T.
- Carrillo-avila José Antonio
- Carvalho Maria C. C.
- Casasnovas Carlos
- Castaño Carlos F.
- Castaño Luis
- Castelao Jose E.
- Castellano Candalija Aranzazu
- Castillo María A.
- Cañadas Yolanda
- Ceballos Francisco C.
- Chaux Jessica G.
- Chaves-santiago Walter G.
- Chiquillo-gómez Sylena
- Cid-lópez Marco A.
- Cienfuegos-jiménez Óscar
- Conde-vicente Rosa
- Cordero-lorenzana M. Lourdes
- Corella Dolores
- Corrales Almudena
- Corton Marta
- Cortés-sánchez Jose L.
- Costa Tatiana X.
- Cruz Marina S.
- Cruz Raquel
- Cuesta Luisa
- Cunha Gabriela C. R.
- Cáceres Alejandro
- Cáceres-agra Juan J.
- Dalmau David
- Dantas-komatsu Raquel C. S.
- Darnaude M. Teresa
- De Andrés Raimundo
- De Araújo Jéssica N. G.
- De Juan Carmen
- De La Cruz Troca Juan J.
- De La Horra Carmen
- De La Hoz Ana B.
- De Martino-rodríguez Alba
- De Sousa Alves Neri Julianna Lys
- Del Campo-pérez Victor
- Delgado-cuesta Juan
- Diaz De Bustamante Aranzazu
- Dietl Beatriz
- Diz-de Almeida Silvia
- Do Monte Alves Manoella
- Domínguez-garrido Elena
- Dos Santos Katiusse A.
- Duarte Alice L.
- Díaz-caneja Covadonga M.
- Díaz-pérez Anderson
- Echave-sustaeta Jose
- Eiros Rocío
- Enciso-olivera César O.
- Escudero Gabriela
- Esko Tonu
- España Pedro Pablo
- Estigarribia Sanabria Gladys
- Fariñas María Carmen
- Fernandes Marianne R.
- Fernandez-nestosa María J.
- Fernández Martínez Yolanda
- Fernández Ramón
- Fernández Ruth
- Fernández-caballero Lidia
- Fernández-capitán Carmen
- Fernández-cruz Ana
- Fernández-ferrero Silvia
- Fernández-robelo Uxía
- Fernández-rodríguez Amanda
- Fernández-sampedro Marta
- Fernández-villa Tania
- Flores Carlos
- Flores-pérez Patricia
- Friaza Vicente
- Fuenmayor-hernández Lácides
- Fuertes-núñez Marta
- Fumadó Victoria
- Gadea Ignacio
- Gagliardi Lidia
- Gago-domínguez Manuela
- Gallego Natalia
- Galoppo Cristina
- Garcia-garcía Josefina
- García Torrejón María Carmen
- García Inés
- García Leticia
- García Mercedes
- García-cerrada Carlos
- García-de-vicuña Aitor
- García-garcía Irene
- García-ibarbia Carmen
- García-montero Andrés C.
- García-soidán Ana
- García-vázquez Elisa
- Garza-frias Emiliano
- Gentile Angela
- Gil-fournier Belén
- Gonzalez-sagrado Manuel
- Gonzalo-benito Hugo
- González Bernaldo De Quirós Fernán
- González Álvarez Beatriz
- González Juan R.
- González Juan R.
- González-montelongo Rafaela
- González-neira Anna
- González-peñas Javier
- Gorgojo-galindo Oscar
- Guaragna Florencia
- Guegel Genilson P.
- Guillén-guío Beatriz
- Guillén-navarro Encarna
- Guisado-vasco Pablo
- Gutiérrez-bautista Juan F.
- Gutiérrez-castañeda Luz D.
- Gómez Carrera Luis
- Gómez García María
- Gómez Sacristán Ángela
- Gómez-arrue Javier
- Gómez-duque Mario
- Górgolas Miguel
- Heili-frades Sara
- Hernández Estefania
- Hernández-moro Cristina
- Hernández-ortega Luis D.
- Hernández-pérez Guillermo
- Hernández-vaquero Rebeca
- Herranz M. Teresa
- Herrera María
- Herrero María José
- Herrero-gonzález Antonio
- Herráez Belén
- Horcajada Juan P.
- Imaz-ayo Natale
- Intxausti-urrutibeaskoa Maider
- Jacomo Rafael H.
- Jara Rubén
- Jiménez Pilar
- Jiménez Ángel
- Jiménez-alfaro Ignacio
- Jiménez-sousa María A.
- Jordan Iolanda
- Laguna-goya Rocío
- Laorden Daniel
- Lapunzina Pablo
- Lasa-lázaro María
- Lattig María Claudia
- Lauriente Ailen
- Liger Borja Anabel
- Llanos Lucía
- Lopez-garcia Esther
- Lopez-rodriguez Rosario
- Lorente Leonardo
- Lorenzo-salazar José M.
- Lozano José E.
- Lozano-espinosa María
- Luchessi Andre D.
- López De Heredia Miguel
- López De Heredia Miguel
- López-bernús Amparo
- López-granados Eduardo
- López-ruz Miguel A.
- Mahillo Ignacio
- Mancebo Esther
- Mar Carmen
- Marcelo Calvo Cristina
- Marcos Miguel
- Marcos-delgado Alba
- Mariscal-aguilar Pablo
- Martin-fernandez Marta
- Martin-pedraza Laura
- Martinez Amalia
- Martinez-paz Pedro
- Martín María Dolores
- Martín María M.
- Martín Vicente
- Martín-lópez Caridad
- Martín-oterino José-Ángel
- Martín-vicente María
- Martínez Juan José
- Martínez Ricardo
- Martínez Silvia
- Martínez-aquino Eleno
- Martínez-gonzález Óscar
- Martínez-lópez Iciar
- Martínez-nieto Óscar
- Martínez-pérez Ángel
- Martínez-ramas Andrea
- Martínez-reséndez Michel F.
- Martínez-robles Violeta
- Marzal Laura
- Marín-candón Alicia
- Maya Belén Rodríguez
- Mazzeu Juliana F.
- Medeiros Jeane F. P.
- Medeiros Kelliane A.
- Medrano Francisco J.
- Meijome Xose M.
- Mejuto-montero Natalia
- Mendes Ingrid
- Mendoza Charris Humberto
- Merayo Macías Eleuterio
- Mercadillo Fátima
- Mercado-sesma Arieh R.
- Molina Antonio J. J.
- Molina-roldán Elena
- Montoya Juan José
- Moraes Vitor M. S.
- Moreira-escriche Patricia
- Morelos-arnedo Xenia
- Moreno Cuerda Víctor
- Moreno Fernández Alberto
- Moreno Rocío
- Moreno-docón Antonio
- Moreno-escalante Junior
- Morilla Rubén
- Muñoz García Patricia
- Méndez-echevarría Ana
- Mínguez Pablo
- Neira Pablo
- Nevado Julián
- Nieto-gañán Israel
- Nunes Joana F. R.
- Nuñez-torres Rocío
- Obrador-hevia Antònia
- Ocejo-vinyals J. Gonzalo
- Olivar Virginia
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- Olivera María Rubio
- Ondo Lorena
- Orfao Alberto
- Ortega Luis
- Ortega-paino Eva
- Ortiz-flores Fernando
- Ortiz-lópez Rocío
- Oteo José A.
- Pacheco Manuel
- Pacheco-miranda Fredy Javier
- Padilla-conejo Irene
- Panadero-fajardo Sonia
- Parellada Mara
- Pariente-rodríguez Roberto
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- Peces-barba Germán
- Pedromingo Kus Miguel S.
- Perales Celia
- Perucho Teresa
- Pichardo Lisbeth A.
- Pinho Susana M. T.
- Pinsach-abuin Mel·lina
- Pinzón Luz Adriana
- Pita Guillermo
- Pla-juncà Francesc
- Planas-serra Laura
- Pompa-mera Ericka N.
- Porras-hurtado Gloria L.
- Pujol Aurora
- Pérez Alexandra
- Pérez César
- Pérez María Jazmín
- Pérez Patricia
- Pérez-de-nanclares Gustavo
- Pérez-garcía Felipe
- Pérez-jurado Luis A.
- Pérez-matute Patricia
- Pérez-tomás M. Elena
- Quevedo-chávez María Eugenia
- Quijada Maria Angeles
- Quintela Inés
- Quintela Inés
- Ramiro-león Soraya
- Rascado Sedes Pedro
- Recalde Delia
- Recio-fernández Emma
- Resino Salvador
- Riancho José A.
- Ribeiro Adriana P.
- Rivadeneira-chamorro Carlos S.
- Roa-agudelo Diana
- Robelo Pardo Montserrat
- Rodriguez Marilyn Johanna
- Rodriguez-nicolas Antonio
- Rodriguez-palmero Agustí
- Rodriguez-urrego Paula A.
- Rodríguez-artalejo Fernando
- Rodríguez-ferrer Marena
- Rodríguez-gallego Carlos
- Rodríguez-garcía José A.
- Rodríguez-hernández María A.
- Rodríguez-novoa German Ezequiel
- Rodríguez-ruiz Emilio
- Rojas-martinez Augusto
- Rojo Federico
- Romero-coronado Andrea
- Rondón-garcía Filomeno
- Rosa Lidia S.
- Rosales-castillo Antonio
- Rubio Cladelis
- Ruiz Montserrat
- Ruiz-cabello Francisco
- Ruiz-casares Eva
- Ruiz-cubillan Juan J.
- Ruiz-hornillos Javier
- Ryan Pablo
- Salamanca Hector D.
- Salazar-garcía Lorena
- Salgueiro-origlia Giorgina Gabriela
- Sancho-sainz Cristina
- Sande Esther
- Sangil Anna
- Santos Arnoldo
- Santos Ney P. C.
- Schlüter Agatha
- Scourge Cohort Group
- Segovia Sonia
- Serra-llovich Alex
- Sevil-puras Fernando
- Sevilla-porras Marta
- Sicolo Miguel A.
- Silbiger Vivian N.
- Silva Fabiola T. C.
- Silva Gabriela V.
- Silva Nayara S.
- Silván-fuentes Cristina
- Solé-violán Jordi
- Soria José Manuel
- Sorlí Jose V.
- Sousa Renata R.
- Souto Juan Carlos
- Souza Karla S. C.
- Souza Vanessa S.
- Sprockel John J.
- Suárez-rama José Javier
- Suárez-zamora David A.
- Sánchez López Antonio J.
- Sánchez Pedro-luis
- Sánchez-carpintero Abad María
- Sánchez-pablo Clara
- Sánchez-pernaute Olga
- Sánchez-prados María Concepción
- Sánchez-real Javier
- Sánchez-redondo Jorge
- Taboada-fraga Xiana
- Tamayo Eduardo
- Tamayo-velasco Alvaro
- Taracido-fernández Juan Carlos
- Tavares Nathali A. C.
- Tellería Carlos
- Tenorio-castaño Jair Antonio
- Teper Alejandro
- Torres-gutiérrez Ronald P.
- Torres-macho Juan
- Torres-tobar Lilian
- Troya Jesús
- Urioste Miguel
- Valencia-ramos Juan
- Valido Agustín
- Vargas-gallo Juan Pablo
- Varón Belén
- Vasconcelos Romero H. T.
- Vega Tomas
- Velasco-quirce Santiago
- Vidán-estévez Julia
- Vieitez-santiago Miriam
- Vilches Carlos
- Villalobos Lavinia
- Villar Felipe
- Villar-garcia Judit
- Villaverde Cristina
- Villoslada-blanco Pablo
- Virseda-berdices Ana
- Vélez-santamaría Valentina
- Víctor Virginia
- Yáñez Zuleima
- Zapatero-gaviria Antonio
- Zarate Ruth
- Zazo Sandra
- Álvarez Nuria
- Álvarez-benítez Yady
- Álvarez-navia Felipe
- Álvarez-sala Walther Rodolfo
- Íñigo-campos Antonio
- Íñiguez María
- Publication venue
- Springer Science and Business Media LLC
- Publication date
- 08/05/2024
- Field of study
The pandemic caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2, COVID-19) had an estimated overall case fatality ratio of 1.38% (pre-vaccination), being 53% higher in males and increasing exponentially with age. Among 9578 individuals diagnosed with COVID-19 in the SCOURGE study, we found 133 cases (1.42%) with detectable clonal mosaicism for chromosome alterations (mCA) and 226 males (5.08%) with acquired loss of chromosome Y (LOY). Individuals with clonal mosaic events (mCA and/or LOY) showed a 54% increase in the risk of COVID-19 lethality. LOY is associated with transcriptomic biomarkers of immune dysfunction, pro-coagulation activity and cardiovascular risk. Interferon-induced genes involved in the initial immune response to SARS-CoV-2 are also down-regulated in LOY. Thus, mCA and LOY underlie at least part of the sex-biased severity and mortality of COVID-19 in aging patients. Given its potential therapeutic and prognostic relevance, evaluation of clonal mosaicism should be implemented as biomarker of COVID-19 severity in elderly people. Among 9578 individuals diagnosed with COVID-19 in the SCOURGE study, individuals with clonal mosaic events (clonal mosaicism for chromosome alterations and/or loss of chromosome Y) showed an increased risk of COVID-19 lethality
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
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- Ashcroft Kevin
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- Ashworth Linda K.
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- Atkinson Andrea
- Atkinson Barry
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- Attwood John
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- Ayele Mulu
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- Babbage Sarah
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- Baumgart Cornelia
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- Dwyer Ruth
- Dyer Lauren
- Dziuda Darius
- Earnhardt Christopher D.
- Earthrowl Mark
- Eastham Emma
- Eastham Timothy
- Eaves Kristy A.
- Eckenberg Ralph
- Edgar Darren
- Edionwe Susan Omwanghe Osayanro
- Edwards Carol
- Edwards Jennifer
- Edwards Karen
- Egan Amy
- Eichler Evan
- Eichler Evan
- Ejima Fumio
- Elkin Chris
- Ellington Andrew
- Elliot David
- Elliot Glendoria
- Elliot Jeffrey
- Ellwood Matthew
- Emberson Becky
- Emelianenko Natalia
- Emery-Cohen Alexandra J.
- Endrizzi Matthew
- Engh Ger van den
- Engle David
- Erickson Jeffery
- Erler Anne Marie
- Errington Helen
- Escobar Julio
- Escotto Michael
- Eugene Craig S.
- Evans Gareth
- Evans John
- Evans Katie
- Evans Richard
- Eveleth Gerald
- Eyras Eduardo
- Fan Hongyuan
- Fan Keke
- Fang Jianqiu
- Farina Abderrahim
- Faro Susan
- Faulkner Louisa
- Fawcett Joseph J.
- Fechtel Kim
- Fellingham Charlotte
- Felming Claire
- Felsenfeld Adam
- Feltwell Theresa
- Feng Guodong
- Feng Haiyan
- Feng Jie
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- Fennell Stephen
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- Fernando Pushpa Ranjani
- Ferriera Pat
- Fertitta Anne
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- Fink Marie
- Finley Maria C.
- Finn Robert
- Fischer Heather
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- Flanagan J.
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- Flint Mark
- Flowers Dave
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- Fong Jonathan
- Fonknechten Núrua
- Footman Simon
- Forbes Lisa D.
- Ford Amanda F.
- Foster Myre J.
- Fotopulos Dea
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- Fowler John
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- Fu Qiushi
- Fujioka Michiru
- Fujiyama Asao
- Fukawa Rintaro
- Fuller Liam
- Fuller Sharin
- Fullerton Kathryn
- Fulton Lucinda A.
- Fulton Robert S.
- Furey Terrence S.
- Furuhashi Mie
- Förste Silke
- Gabisi Abdul M.
- Gage Diane
- Gaige Tony
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- Gao Anwu
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- Garcia Emilio
- Garcia Marvin
- Garcia Ricardo M, III
- Garcia-Martinez Antonio
- Gardner Alison
- Gardner Alison
- Garduno Consuelo
- Gardyna Steph
- Garner Patrick
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- Garnes Jeffrey A.
- Garnett Jane
- Garza Melissa
- Gatewood Joseph M.
- Gatland Leigh
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- Geng Jianing
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- Gibbs Ben
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- Gong Guanghui
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- Gooderham April
- Goodstadt Leo
- Goodstein David
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- Goyea Ernest
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- Grant Michael
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- Griffith Jeffrey K.
- Griffiths Coline
- Griffiths Ed
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- Gui Qi
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- Gunning Kate
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- Hamilton Matt
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- Han Guiqing
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- Hancock Julie
- Harbes Brandy A.
- Harding Adam
- Harkins C. Richard
- Harley Joanne
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- Haugen Eric
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- Hawkins Ebere Sylvia Onyirioha
- Hawkins Natalie
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- Hewitt Stephen
- Heyen Joshua
- Higgs Douglas
- Hildebrand Carl E.
- Hillier LaDeana
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- Hinkins Russell
- Hinrichs Angela S.
- Hitchens Matthew Edward
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- Hodgson David
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- Holden Jane
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- Holroyd Simon
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- Honan Tracy
- Hood Leroy
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- Howden Philip
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- Huang Wei
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- Hubbard Timothy
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- Huckle Elizabeth
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- Huynh Sandy
- Hyde David
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- Imbro Paula
- Imo Kelvin C.
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- Ingram Drew
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- Ishizaki Hinako
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- Itoh Takehiko
- Iwakawa Shinobu
- Iwatate Mariko
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- Izatt Janet
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- Izumiyama Tomohiro
- Jacintho Mark
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- Jackson Terri
- Jacob Leni Susan
- Jaeger Sara
- Jaffe David B.
- Jahn Niels
- Jaklevic Joseph
- Jaklevic Michael
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- Jareborg Niclas
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- Jeffery Grant
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- Jekosch Kerstin
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- Jia Jia
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- Jones Steven
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- Kettleborough Ross
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- Kohlberg Sara
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- Kong Yi
- Korf Ian
- Kosiura Anna
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- Krawczyk Marie-Claude
- Kremitzki Colin
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- Kube Michael
- Kubischta Duane
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- Lambart Christine
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- Landers Tom
- Langford Cordelia
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- Lapidus Alla
- Larke Ben
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- Nguyen Ngoc Bich
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- O\u27Leary Sinead
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- Wu Chungen
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- Wyatt Julia
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- Xu Yuning
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- Yada Tetsushi
- Yadav Shailendra
- Yakub Syed
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- Zainoun Joanne
- Zembeck Lisa
- Zeng Yixin
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- Zhan Guoping
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- 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
Abstracts from the Food Allergy and Anaphylaxis Meeting 2016
- Author
- A. Wesley Burks
- Abdulhadi Al-Qahtani
- Abdullah Alfhaid
- Abir Haddi
- Adam T. Fox
- Adam Wawrzeńczyk
- Adnan Custovic
- Adriana Machinena
- Adriana Muntean
- Adriano Mari
- Aeilko Zwinderman
- Afke M. M. Schins
- Agata Michalska
- Agata Szymkiewicz
- Agha Rehan Khaliq
- Agnieszka Lipiec
- Agurtzane Bilbao
- Agustin Madroñero
- Aida del Campo García
- Aida Semic-Jusufagic
- Aideen Byrne
- Aimee Lou Nano
- Aimée Dorkenoo
- Aine Adams
- Akanksha Sharma
- Akila Rekima
- Alba Pablos-Tanarro
- Alejandro Joral
- Aleksandar Bulog
- Alena Berger
- Alessandro Fiocchi
- Alessandro Travaglini
- Alexander Rohrbach
- Alexandra Rodrigues
- Alf Weimann
- Ali Almontasheri
- Alice Coimbra
- Alina Zbróg
- Aline Sprikkelman
- Alkerta Ibranji
- Amaranta Traversa
- Amena Warner
- Amyra Ali Azamar Jácome
- Ana Célia Costa
- Ana Fiandor
- Ana María Plaza
- Ana Miranda
- Ana Molina
- Ana Paula Moschione Castro
- Ana Pereira
- Ana Prieto
- Ana Prieto del Prado
- Ana Reis Ferreira
- Ana Rodolfo
- Ana Rodriguez-Fernandez
- Anastasia Cirisano
- Anastasia Papadopoulou
- Anders Blom Jensen
- Andre Knulst
- Andrea Costanzi
- Andrea Di Rienzo Businco
- Andrea Keiko Gushken
- Andrea Mikkelsen
- Andrea Vereda
- Andrea Wangorsch
- Andreas Frey
- Andreia Forno
- André C. Knulst
- André Moreira
- André Wolterbeek
- Aneta Tomaszewska
- Angela Simpson
- Angelica Ehrenberg
- Ania Carsin
- Anja Jeverica
- Anja Koren Jeverica
- Anna G. Vidarsdottir
- Anna Iliopoulou
- Anna Kaarina Kukkonen
- Anna Kuklinska-Pijanka
- Anna Pelkonen
- Anna Selby
- Anna Sokolova
- Anna Szyc
- Anna Wawrzeńczyk
- Anna-Lena Bramstång Björk
- Anna-Maija Hanni
- Annabelle Capt
- Annamaria Bianchi
- Anne Miles
- Anne Moneret-Vautrin
- Anne-Fleur Schoemaker
- Anne-Marie Kochuyt
- Anne-Marie Oomkes-Pilon
- Anne-Sofie Ballegaard
- Annette Jamin
- Annick Bastiaensen
- Annick Mercenier
- Anouska D. Michelsen-Huisman
- Anthony Dubois
- Anthony E. J. Dubois
- Antima Banerjee
- Antoine Deschildre
- Antoine Magnan
- Anton A. Shekhetov
- Anton Hartmann
- Antonia Rojas
- Antonino Romano
- Antonio Amoroso
- Antonio Carlos Pastorino
- Antonio Fernandez
- Antonio Pastorino
- António Jorge Cabral
- Arianna Dondi
- Arnaldo Porto
- Arne Homann
- Artur Walkiewicz
- Assad M. Butt
- Astrid G. Kruizinga
- Astrid Kruizinga
- Astrid Versluis
- Athina van Gasse
- Attilio Francesco Speciani
- Audrey Dunn Galvin
- Ayelet Rimon
- Barbara Ballmer
- Barbara Ballmer-Weber
- Barbara Majkowska-Wojciechowska
- Barbara Pfitzner
- Barbara Wróblewska
- Beatriz Secades Barbado
- Ben Remington
- Benoît Sterling
- Berber Vlieg-Boerstra
- Bernard Mahon
- Bert Popping
- Bertine M. J. Flokstra-de Blok
- Bertrand Evrard
- Bettina Brix
- Bianca Balbino
- Birgit Kalb
- Birgit Quinting
- Bjorn R. Ludviksson
- Bo Pontoppidan
- Bodo Niggemann
- Boleslaw Samolinski
- Borja Bartalomé
- Borja Bartolomé
- Boudewjin J. Kollen
- Bruna Aquilante
- Bruno Pereira
- Bryan M. Harvey
- Bushra Javed
- Carina Kelleher
- Carl Hamsten
- Carla Camerotto
- Carla Jones
- Carla Mastrorilli
- Carlo Caffarelli
- Carlotta Povesi Dascola
- Carmen Di Scala
- Carmen D’Amelio
- Carmen Ponce
- Carmen Riggioni
- Carmen Saviana Ganea
- Carolina Aranda
- Carolina S. Aranda
- Caroline Klingebiel
- Caroline Thumerelle
- Caroline Zimmermann
- Carsten Bindslev-Jensen
- Catherine Bertholet
- Catherine Nock
- Chantal Agabriel
- Chantal Brossard
- Charlotte Eisenmann
- Charlotte Hands Plovdiv
- Charlotte Madsen
- Charlotte Mortz
- Chia-Chi Wang
- Chiara Fiamingo
- Chiara Pistoletti
- Chiara Rafaiani
- Chris H. Bridts
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- Cornelia Jansen
- Cornelis K. van der Ent
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- Cristobalina Mayorga
- Daniel Corbacho
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- Joost Westerhout
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- Joseph Baumert
- Jossie Garthoff
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- José María Ignacio García
- José Pedro Moreira Silva
- José Plácido
- José Ramón Fernández Lorenzo
- Joyce A. M. Emons
- Joyce Emons
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- Mathilde Claude
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- Meltem Ugras
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- Merima Bublin
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- Montserrat Fernandez-Rivas
- Montserrat López Onieva
- Montserrat Álvaro
- Morten Christensen
- Moshe Ben-Shoshan
- Mukul Das
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- Network for Online Registration of Anaphylaxis (NORA)
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- Serena Perna
- Shan Deng
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- Sigurveig Sigurdardottir
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- Sira Miquel
- Skadi Kull
- Sofia Kostoudi
- Songül Yürek
- Sonia Ricò
- Sonja Posega Devetak
- Sonsoles Intente-Herrero
- Sophia Watts
- Sophie Nutten
- Soraya Ainad Tabet
- Soren Wille
- Srdan Banac
- Sridevi Muralidharan
- Stefan Kabasser
- Stefan Vieths
- Stefania Arasi
- Stefanie Rohwer
- Stefano Luccioli
- Stefano Pattini
- Stephan Scheurer
- Stephane Leteurtre
- Stephanie Claus
- Stephen J. Galli
- Stephen Till
- Steve Taylor
- Stéphanie Lejeune
- Susana Piedade
- Susana Rodrigues
- Susanne Diesner
- Susanne Lau
- Susanne Schwarz
- Svetlan Dermendzhiev
- Svetlana Denisova
- Svitlana Nedelska
- Svitlana Zubchenko
- Sylke Rietz
- Sylvia Osscini
- Tadej Avčin
- Tanja Cirkovic Velickovic
- Tanja Rouhani Rankouhi
- Tatyana Popova
- Tatyana Sentsova
- Teija Dunder
- Teodoríkez Jiménez-Rodríguez
- The Anaphylaxis Working Group of the French Allergology SocietyThe Anaphylaxis Working Group of the French Allergology Society
- Thomas Eiwegger
- Thomas Keil
- Thomas Marichal
- Tiina Kauppila
- Timothy Watts
- Tina Vesel
- Tomaž Poredoš
- Tong-Rong Jan
- Tullio Frediani
- Tushar Banerjee
- Ulf Bengtsson
- Ulrike Lehnigk
- Umberto Pelosi
- Urszula Samolinska-Zawisza
- Uta Jappe
- Valentino Pavisic
- Valery Muhortnich
- Valérie Liabeuf
- Valérie Trendelenburg
- Valérie Verhasselt
- Vasti Iancu
- Vera A. Revyakina
- Vera Elisabeth Assmann
- Vicente Albendiz
- Victor Matheu-Delgado
- Vito Sabato
- Viviana Moschese
- Vladimir Micovic
- Vladyslava Barzylovych
- Véronique Nève
- W. Marty Blom
- Waltraud Suer
- Wentong Xue
- Winfried Leeman
- Wolf-Meinhard Becker
- Xavier Domingo Miró
- Yanne Boloh
- Yin-Hua Cheng
- Yolanda Meijer
- Yolanda Puente
- Youcef Bouferkas
- Younes Belabbas
- Young-Ae Lee
- Yvonne Vergouwe
- Zbigniew Bartuzi
- Zdenka Baricev-Novakovic
- Zerrin Yalvac
- Zizi Cojocariu
- Zorica Zivkovic
- Zsolt Szepfalusi
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/03/2017
- Field of study
Genetic Variants Associated with Corneal Biomechanical Properties and Potentially Conferring Susceptibility to Keratoconus in a Genome-Wide Association Study
- Author
- Publication venue
- 'American Medical Association (AMA)'
- Publication date
- 01/09/2019
- Field of study
Population Genetic Structure of Traditional Populations in the Peruvian Central Andes and Implications for South American Population History
- Author
- Cabana Graciela S.
- Castillo Pampas C. Leslie
- Covey R. Alan
- Cáceres Angela M
- de Celis Verónica Rubín
- De La Cruz Augusto F.
- Durand Diana
- Housman Genevieve
- Hulsey Brannon I.
- Iannacone Gian Carlo
- Lewis Jr., Cecil M.
- Lizárraga Beatriz
- Lopez Paul W
- Martínez Rolando
- Medina Ángel
- Ortega Dávila Olimpio
- Osorio Pinto Karla Paloma
- Polo Santillán Susan I.
- Rojas Domínguez Percy
- Rubel Meagan
- Smith Heather F
- Smith Silvia E.
- Stone Anne C
- Tito Raúl Y
- Publication venue
- DigitalCommons@WayneState
- Publication date
- 01/01/2014
- Field of study
Molecular-based characterizations of Andean peoples are traditionally conducted in the service of elucidating continent-level evolutionary processes in South America. Consequently, genetic variation among “western” Andean populations is often represented in relation to variation among “eastern” Amazon and Orinoco River Basin populations. This west-east contrast in patterns of population genetic variation is typically attributed to large-scale phenomena, such as dual founder colonization events or difffering long-term microevolutionary histories. However, alternative explanations that consider the nature and causes of population genetic diversity within the Andean region remain underexplored. Here we examine population genetic diversity in the Peruvian Central Andes using data from the mtDNA first hypervariable region and Y-chromosome short tandem repeats among 17 newly sampled populations and 15 published samples. Using this geographically comprehensive data set, we first reassessed the currently accepted pattern of western versus eastern population genetic structure, which our results ultimately reject: mtDNA population diversities were lower, rather than higher, within Andean versus eastern populations, and only highland Y-chromosomes exhibited significantly higher within-population diversities compared with eastern groups. Multiple populations, including several highland samples, exhibited low genetic diversities for both genetic systems. Second, we explored whether the implementation of Inca state and Spanish colonial policies starting at about ad 1400 could have substantially restructured population genetic variation and consequently constitute a primary explanation for the extant pattern of population diversity in the Peruvian Central Andes. Our results suggest that Peruvian Central Andean population structure cannot be parsimoniously explained as the sole outcome of combined Inca and Spanish policies on the region’s population demography: highland populations difffered from coastal and lowland populations in mtDNA genetic structure only; highland groups also showed strong evidence of female-biased gene flow and/or efffective sizes relative to other Peruvian ecozones. Taken together, these findings indicate that population genetic structure in the Peruvian Central Andes is considerably more complex than previously reported and that characterizations of and explanations for genetic variation may be best pursued within more localized regions and defined time periods
Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 4
- Author
- Abecasis
- Alice E. Davidson
- Alison J. Hardcastle
- Aue
- Bath
- Boivin
- Brunak
- Caroline Thaung
- Cartharius
- Cerys J. Evans
- Chen
- Chen
- Chung
- Chung
- Cieply
- Davidson
- Desmet
- Dimitra Athanasiou
- Eghrari
- Eng
- Evans
- Frisch
- Grabe
- Harikumar
- He
- Henriquez
- Hodan Jama
- Hong
- Jirsova
- Josef Sach
- Kalluri
- Karla E. Rojas Lopez
- Kim
- Kitazawa
- Krachmer
- Krafchak
- Kundaje
- Liskova
- Liskova
- Liskova
- Lubica Dudakova
- Martin Filipec
- Massie
- McCarey
- McKenna
- McLaren
- Merjava
- Michael E. Cheetham
- Nakahashi
- Nikolas Pontikos
- Pavlina Skalicka
- Petra Liskova
- Petrof
- Plagnol
- Pontikos
- Pradella
- Reese
- Rodrigues
- Singh
- Srinivas
- Stanislav Kmoch
- Stephen J. Tuft
- Valtink
- Van Laer
- Vastenhouw
- Viktor Stranecky
- Vona
- Wang
- Weiss
- Wingender
- Xiang
- Zakharevich
- Publication venue
- 'Elsevier BV'
- Publication date
- 01/03/2018
- Field of study
In a large family of Czech origin, we mapped a locus for an autosomal-dominant corneal endothelial dystrophy, posterior polymorphous corneal dystrophy 4 (PPCD4), to 8q22.3-q24.12. Whole-genome sequencing identified a unique variant (c.20+544G>T) in this locus, within an intronic regulatory region of GRHL2. Targeted sequencing identified the same variant in three additional previously unsolved PPCD-affected families, including a de novo occurrence that suggests this is a recurrent mutation. Two further unique variants were identified in intron 1 of GRHL2 (c.20+257delT and c.20+133delA) in unrelated PPCD-affected families. GRHL2 is a transcription factor that suppresses epithelial-to-mesenchymal transition (EMT) and is a direct transcriptional repressor of ZEB1. ZEB1 mutations leading to haploinsufficiency cause PPCD3. We previously identified promoter mutations in OVOL2, a gene not normally expressed in the corneal endothelium, as the cause of PPCD1. OVOL2 drives mesenchymal-to-epithelial transition (MET) by directly inhibiting EMT-inducing transcription factors, such as ZEB1. Here, we demonstrate that the GRHL2 regulatory variants identified in PPCD4-affected individuals induce increased transcriptional activity in vitro. Furthermore, although GRHL2 is not expressed in corneal endothelial cells in control tissue, we detected GRHL2 in the corneal "endothelium" in PPCD4 tissue. These cells were also positive for epithelial markers E-Cadherin and Cytokeratin 7, indicating they have transitioned to an epithelial-like cell type. We suggest that mutations inducing MET within the corneal endothelium are a convergent pathogenic mechanism leading to dysfunction of the endothelial barrier and disease
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A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus.
- Author
- Aldave Anthony J
- Ali Manir
- Baird Paul N
- Burdon Kathryn P
- Bykhovskaya Yelena
- Cao Ke
- Chan Elsie
- Charlesworth Jac C
- Chen Yii-Der Ida
- Choquet Hélène
- Craig Jamie E
- Daniell Mark D
- Davidson Alice E
- Dudakova Lubica
- Faro Valeria Lo
- Farraj Layal Abi
- Geerards Annette JM
- Habeeb Mahmoud
- Hammond Chris J
- Hardcastle Alison J
- Haudum Christoph W
- Hewitt Alex W
- Hysi Pirro G
- Inglehearn Chris F
- Iyengar Sudha K
- Jorgenson Eric
- Khawaja Anthony P
- Klaver Caroline CW
- Krauss Ronald M
- Li Xiaohui
- Liskova Petra
- Lopez Karla E Rojas
- Lucas Sionne EM
- MacGregor Stuart
- McComish Bennet J
- Meester-Smoor Magda A
- Melles Ronald B
- Mills Richard A
- Mitchell Paul A
- O'Brart David
- Patasova Karina
- Pontikos Nikolas
- Rabinowitz Yaron S
- Rahi Jugnoo S
- Ramdas Wishal D
- Rice Aine
- Richardson Andrea J
- Rotter Jerome I
- Sahebjada Srujana
- Siddiqui Salina
- Simcoe Mark J
- Skalicka Pavlina
- Szczotka-Flynn Loretta
- Taylor Kent D
- Tenen Abi
- Theusch Elisabeth
- Toomes Carmel
- Tuft Stephen J
- Van Dooren Bart TH
- Wang Jie Jin
- Yarrand Darioush
- Yin Jie
- Publication venue
- eScholarship, University of California
- Publication date
- 01/03/2021
- Field of study
Keratoconus is characterised by reduced rigidity of the cornea with distortion and focal thinning that causes blurred vision, however, the pathogenetic mechanisms are unknown. It can lead to severe visual morbidity in children and young adults and is a common indication for corneal transplantation worldwide. Here we report the first large scale genome-wide association study of keratoconus including 4,669 cases and 116,547 controls. We have identified significant association with 36 genomic loci that, for the first time, implicate both dysregulation of corneal collagen matrix integrity and cell differentiation pathways as primary disease-causing mechanisms. The results also suggest pleiotropy, with some disease mechanisms shared with other corneal diseases, such as Fuchs endothelial corneal dystrophy. The common variants associated with keratoconus explain 12.5% of the genetic variance, which shows potential for the future development of a diagnostic test to detect susceptibility to disease