9 research outputs found
Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus
- Author
- Adenis C. (Claude)
- Aittomäki K. (Kristiina)
- Andrulis I.L. (Irene)
- Anton-Culver H. (Hoda)
- Antoniou A.C. (Antonis)
- Arndt V. (Volker)
- Arun B.K. (Banu)
- Arver B. (Brita Wasteson)
- Asperen C.J. (Christi) van
- Ausems M.G.E.M. (Margreet)
- Bandera E.V. (Elisa)
- Barile M. (Monica)
- Barjhoux L. (Laure)
- Barkardottir R.B. (Rosa B.)
- Barouk-Simonet E. (Emmanuelle)
- Barrowdale D. (Daniel)
- Barwell J. (Julian)
- Baurand A. (Amandine)
- Beckmann M.W. (Matthias)
- Beesley J. (Jonathan)
- Belotti M. (Muriel)
- Benítez J. (Javier)
- Berchuck A. (Andrew)
- Berthet P. (Pascaline)
- Bertolone G. (Geoffrey)
- Bignon Y.-J. (Yves-Jean)
- Birot A.-M. (Anne-Marie)
- Bisogna M. (Maria)
- Bjorge L. (Line)
- Blomqvist C. (Carl)
- Blot W.J. (William)
- Bock G.H. (Geertruida) de
- Bogdanova N.V. (Natalia)
- Bojesen A. (Anders)
- Bojesen S.E. (Stig)
- Bolla M.K. (Manjeet K.)
- Bonadona V. (Valérie)
- Bonnani B. (Bernardo)
- Bonnet F. (Françoise)
- Borresen-Dale A.-L. (Anne-Lise)
- Bourdon V. (Violaine)
- Boutry-Kryza N. (N.)
- Bowtell D. (David)
- Brady A. (A.)
- Brauch H. (Hiltrud)
- Brennan P. (Paul)
- Brenner H. (Hermann)
- Bressac-de Paillerets B. (Brigitte)
- Bronner M. (Myriam)
- Bruinsma F. (Fiona)
- Brunet J. (Joan)
- Bubien V. (Virginie)
- Buecher B. (Bruno)
- Buhari S.A.B.S. (Shaik Ahmad Bin Syed)
- Burwinkel B. (Barbara)
- Butzow R. (Ralf)
- Buys S.S. (Saundra)
- Bézieau S. (Stéphane)
- Cai Q. (Qiuyin)
- Caldes T. (Trinidad)
- Calender A. (Alain)
- Campbell I. (Ian)
- Canniotto R. (Rikki)
- Caron O. (Olivier)
- Castera L. (Laurent)
- Chang-Claude J. (Jenny)
- Chenevix-Trench G. (Georgia)
- Chiquette J. (Jocelyne)
- Choi J.-Y. (Ji-Yeob)
- Claes K.B.M. (Kathleen B.M.)
- Colas C. (Chrystelle)
- Collonge-Rame M.-A.
- Collée J.M. (Margriet)
- Cook J. (Jackie)
- Cook L.S. (Linda S.)
- Coron F. (Fanny)
- Couch F.J. (Fergus)
- Coulet F. (Florence)
- Coupier I. (Isabelle)
- Cox A. (Angela)
- Cramer D.W. (Daniel)
- Cronenburg T.C.T.E.F. van
- Cross S.S. (Simon)
- Cybulski C. (Cezary)
- Czene K. (Kamila)
- Daly M.B. (Mary B.)
- Damette A. (Alexandre)
- Damiola F. (Francesca)
- Dansonka-Mieszkowska A. (Agnieszka)
- Darabi H. (Hatef)
- De Leeneer K. (Kim)
- DeFazio A. (Anna)
- Delgado M.K. (Melissa K.)
- Delnatte C.D. (Capucine)
- Dennis J. (Joe)
- Deurzen C.H.M. (Carolien) van
- Devilee P. (Peter)
- Doherty J.A. (Jennifer A.)
- Domchek S.M. (Susan)
- Donaldson A. (Alan)
- Dorfling C.M. (Cecilia)
- Dreyfus H. (Hélène)
- Dumont M. (Martine)
- Dunning A.M. (Alison)
- Díez O. (Orland)
- Dörk T. (Thilo)
- Eason J. (Jacqueline)
- Easton D.F. (Douglas F.)
- Edwards S.L. (Stacey)
- Ehrencrona H. (Hans)
- Ejlertsen B. (Bent)
- Elan C. (Camille)
- Ellis S.D. (Steve)
- Engel C. (Christoph)
- Evans D.G. (D. Gareth)
- Faivre L. (Laurence)
- Fasching P.A. (Peter)
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- Feliubadaló L. (L.)
- Ferrer S.F.
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- Foulkes W.D. (William)
- Fourme E. (Emmanuelle)
- Fournier J. (Joëlle)
- Fox S.B. (Stephen)
- Freedman M. (Matthew)
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- Fricker J.P. (Jean Pierre)
- Fridley B.L. (Brooke)
- Friedman E. (Eitan)
- Frost D. (Debra)
- Gambino G. (Gaetana)
- Ganz P.A. (Patricia A.)
- Garber J. (Judy)
- García-Closas M. (Montserrat)
- Gauthier-Villars M. (Marion)
- Gayther S.A. (Simon)
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- Goldgar D. (David)
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- Greene M.H. (Mark H.)
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- Gronwald J. (Jacek)
- Guillaud-Bataille M. (Marine)
- Guimbaud R. (Rosine)
- Guénel P. (Pascal)
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- Haiman C.A. (Christopher A.)
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- Heitz P.U.
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- Hopper J.L. (John)
- Houdayer C. (Claude)
- Hoya M. (Miguel) de La
- Hulick P.J. (Peter)
- Huzarski T. (Tomasz)
- Høgdall C.K. (Claus)
- Høgdall E. (Estrid)
- Imyanitov E.N. (Evgeny)
- Isaacs C. (Claudine)
- Ito H. (Hidemi)
- Jacquot C. (Caroline)
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- Janavicius R. (Ramunas)
- Jensen A. (Allan)
- John E.M. (Esther)
- Johnson N. (Nichola)
- Kabisch M. (Maria)
- Kang D. (Daehee)
- Kapuscinski M.K. (Miroslav K.)
- Kar S. (Siddhartha)
- Karlan B.Y. (Beth Y.)
- Kennedy M.J. (John)
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- Khan S. (Sofia)
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- Kiemeney L.A.L.M. (Bart)
- Kientz C. (Caroline)
- Kirk J. (Judy)
- Kjaer M. (Michael)
- Knight J.A. (Julia)
- Kolk L.E. (Lizet) van der
- Konstantopoulou I. (I.)
- Kosma V-M. (Veli-Matti)
- Kristensen V. (Vessela)
- Kuchenbaeker K. (Karoline)
- Kupryjanczyk J. (Jolanta)
- Kwong A. (Ava)
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- Lambrechts D. (Diether)
- Lange J.L. (J.) de
- Lasset C. (Christine)
- Laurent M. (Maïté)
- Lawrenson K. (Kate)
- Le Marchand L. (Loic)
- Le N.D. (Nhu D.)
- Lebrun M. (Marine)
- Lee E. (Eunjung)
- Lee J.M. (Janet M.)
- Leeuwen F.E. (Flora) van
- Leroux D. (Dominique)
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- Li J. (Jingmei)
- Li Q. (Qiyuan)
- Lindblom A. (Annika)
- Lindeman G.J. (Geoffrey)
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- Long J. (Jirong)
- Longy M. (Michel)
- Lophatananon A. (Artitaya)
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- Neuhausen S.L. (Susan)
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- Noguchi T. (Tetsuro)
- Nord S. (Silje)
- Nussbaum R.L. (Robert L.)
- O'Malley D.M. (David M.)
- Obdeijn A.I.M. (Inge-Marie)
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- Offit K. (Kenneth)
- Olah E.
- Olopade O.I. (Olufunmilayo I.)
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- Poole E.M. (Elizabeth)
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- Rashid M.U. (Muhammad)
- Rebischung C. (Christine)
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- Rennert G. (Gad)
- Rensburg E.J. (Elizabeth) van
- Rhenius V. (Valerie)
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- Risch H. (Harvey)
- Rodriguez G.C. (Gustavo)
- Rogers M.T. (Mark)
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- Saule C. (Claire)
- Sawyer E.J. (Elinor J.)
- Schildkraut J.M. (Joellen)
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- Seynaeve C.
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- Tworoger S.S. (Shelley S.)
- Tyrer J.P. (Jonathan)
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- Verloop J.
- Verny-Pierre C. (Carole)
- Vijai J. (Joseph)
- Vénat-Bouvet L. (Laurence)
- Waisfisz Q. (Quinten)
- Walker L.J. (Lisa)
- Wang Q. (Qin)
- Wang-Gohrke S. (Shan)
- Warcoin M. (Mathilde)
- Webb P. (Penny)
- Weitzel J.N. (Jeffrey)
- Wentzensen N. (N.)
- Whittemore A.S. (Alice)
- Wijnands R.
- Wildiers H. (Hans)
- Winqvist R. (Robert)
- Wu A.H. (Anna)
- Yannoukakos D. (Drakoulis)
- Yoon S.-Y. (Sook-Yee)
- Yu J-C. (Jyh-Cherng)
- Zheng W. (Wei)
- Zheng Y. (Ying)
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 07/09/2016
- Field of study
A locus at 19p13 is associated with breast cancer (BC) and ovarian cancer (OC) risk. Here we analyse 438 SNPs in this region in 46,451 BC and 15,438 OC cases, 15,252 BRCA1 mutation carriers and 73,444 controls and identify 13 candidate causal SNPs associated with serous OC (P=9.2 × 10-20), ER-negative BC (P=1.1 × 10-13), BRCA1-associated BC (P=7.7 × 10-16) and triple negative BC (P-diff=2 × 10-5). Genotype-gene expression associations are identified for candidate target genes ANKLE1 (P=2 × 10-3) and ABHD8 (P<2 × 10-3). Chromosome conformation capture identifies interactions between four candidate SNPs and ABHD8, and luciferase assays indicate six risk alleles increased transactivation of the ADHD8 promoter. Targeted deletion of a region containing risk SNP rs56069439 in a putative enhancer induces ANKLE1 downregulation; and mRNA stability assays indicate functional effects for an ANKLE1 3′-UTR SNP. Altogether, these data suggest that multiple SNPs at 19p13 regulate ABHD8 and perhaps ANKLE1 expression, and indicate common mechanisms underlying breast and ovarian cancer risk
RICORS2040 : The need for collaborative research in chronic kidney disease
- Author
- Agilar M.A.
- Agudo C.P.B.
- Aguiar P.V.A.
- Albadalejo López Santiago
- Alonso J.
- Alvarez-Llamas G.
- Amador M.M.
- Andujar A.M.
- Arduan A.O.
- Arellano Armisen Manuel
- Arenas M.D.
- Arias B.P.
- Arias L.M.
- Ars Elisabet
- Bajo M.J.R.
- Balboa N.E.
- Baltanas R.L.
- Bardaji A.M.
- Barja L.M.C.
- Barreiro A.S.
- Barreiro J.M.L.
- Barrera C.B.
- Barrio M.C.
- Bartolomé M.F.
- Basilio L.C.
- Becerra B.R.
- Belmonte A.A.
- Benito-Hernández A.
- Benítez P.R.
- Berenguer Marina
- Bermejo M.L.G.
- Bermúdez A.I.R.
- Betsabé I.T.
- Blanch N.L.
- Blasco Pelicano Miquel
- Boillos A.B.
- Bonet L.A.
- Bonilla J.L.A.
- Boque E.C.
- Bordignondraibe J.
- Borra J.M.
- Bravo M.Á.G.
- Caballero A.
- Cabello M.
- Cabrales C.A.
- Cabrera B.E.
- Cabrera C.V.
- Cabrera M.L.
- Cachaza N.C.
- Calabia E.R.
- Calvo I.F.
- Canal Girol Cristina
- Cannata Andía J.B.
- Carrasco A.G.
- Carro B.M.
- Casanova Paso A.G.
- Caso C.
- Caso M.D.L.Á.C.
- Castañeda J.R.M.
- Castelao A.M.
- Castiñeira J.R.V.
- Catalina M.C.
- Cenarruzabeitia N.V.
- Centenera G.O.
- Chamond M.R.R.
- Cobo Caso M.D.L.A.
- Correa P.S.
- Corte M.D.C.D.
- Cuarental L.
- Cucchiari David
- Córdoba-David G.
- de Arriba Gabriel
- De Gracia Guindo M.D.C.
- De La Iglesia A.M.B.
- De Lamo V.M.
- De Los Angeles M.
- De Mier M.V.P.R.
- De Miguel P.M.
- De Montaner E.R.A.
- De Ona J.G.
- de Sequera Patricia
- Delgado J.B.
- Delgado N.P.
- Diekmann F.
- Diezhandin M.G.
- Donate-Correa J.
- Díaz Encarnación Montserrat Mercedes
- Díaz M.N.
- Díaz M.N.
- Eijo A.C.
- Enriquez M.C.
- Escribano T.C.
- Expósito L.M.
- Facundo Carme
- Fajardo J.P.T.
- Favero C.
- Fernandez Fresnedo Gema
- Fernández Rodríguez M.A.
- Fernández A.L.
- Fernández A.S.
- Fernández M.P.
- Fernández N.G.
- Fernández-Fernández B.
- Fondevila Campo Constantino
- Font M.X.
- Fontan F.C.
- Fontan M.P.
- Fontecha-Barriuso M.
- Fuentes M.D.C.R.
- Fuentes R.W.
- Furlano Monica
- G. Cosio M. Dolores
- Gallardo M.L.
- Gallego Zurro Daniel
- Gallego R.H.
- Galán A.D.
- Gamboa M.J.R.
- Gamboa M.R.
- Garcia Rebollo M.S.
- García E.C.
- García E.R.
- García L.Á.
- García M.E.G.
- García M.R.
- García P.G.
- García S.P.
- García-Jiménez J.
- García-Menéndez E.
- Garrido R.G.D.M.
- Garrido R.S.J.
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- Gigarrán-Guldris S.
- Gilsanz G.D.P.
- Goicoechea Marian
- González A.O.
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- González M.Á.G.N.
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- González V.P.
- González Á.G.
- Gorostidi Pérez Manuel
- Guerrero-Mauvecin J.
- Guillen M.A.
- Guirado Luis
- Gutiérrez Porras Inmaculada
- Gutiérrez R.L.
- Gómez Gómez Clemente
- Gómez Ruiz Josefa
- Gómez A.P.
- Gómez J.M.L.
- Gómez M.B.
- Haad C.R.
- Heffernan J.A.J.
- Hernandez Marrero Domingo
- Hernández A.F.
- Hernández A.P.R.
- Hernández M.R.
- Hernández R.M.
- Hernández S.B.
- Hernández Á.A.
- Herranz V.M.
- Huerta E.L.
- Huertas S.S.
- Iglesias V.C.
- Jacobs-Cachá C.
- José R.M.S.
- Jover A.S.
- Juárez G.M.F.
- Juárez J.R.
- Lahuerta J.I.H.
- Larrea C.L.
- Lavilla F.J.
- Lechuga J.A.
- León M.
- Llavona E.C.
- Lopez-Díaz A.M.
- Lourdes M.
- Lucas M.F.
- Luengas I.L.M.
- Luis-Lima S.
- López Hernández F.J.
- López J.J.V.
- López M.B.
- López N.C.
- López V.
- López-Hoyos M.
- Majoral J.S.
- Mallen P.D.
- Mallol L.L.
- Malo A.M.
- Maneus E.B.
- Marchant V.
- Marcos E.M.
- Marimont M.B.
- Mariño F.J.J.
- Marqués M.
- Marrah E.M.
- Martin Orgaz Jose Manuel
- Martin P.
- Martos C.M.P.
- Martín C.J.
- Martín C.M.
- Martín J.L.F.
- Martín-Nuñez E.
- Martínez Jiménez Victor
- Martínez A.M.S.
- Martínez C. M.
- Martínez E.G.
- Martínez J.M.C.
- Martínez M.L.
- Martínez S.M.S.
- Masot N.D.
- Matamoros O.B.
- Mateo G.T.G.
- Mateos F.J.M.
- Mateos F.M.
- Mateos S.R.
- Mazuecos Auxiliadora
- Melilli E.
- Meneghini M.A.E.
- Millán J.C.R.S.
- Miranda D.M.
- Miñambres Eduardo
- Miñano J.A.P.
- Molina M.C.
- Molina Á.G.
- Montero A.M.
- Montes C.A.
- Mora-Fernández M.D.C.
- Morales Martín A.I.
- Moreno Barón Marta
- Moreno E.C.
- Moreno I.D.D.
- Moreno J.M.M.
- Murias M.G.
- Muñoz A.C.
- Muñoz L.S.
- Muñoz M.E.R.
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- Publication venue
- Publication date
- 01/01/2022
- Field of study
Chronic kidney disease (CKD) is a silent and poorly known killer. The current concept of CKD is relatively young and uptake by the public, physicians and health authorities is not widespread. Physicians still confuse CKD with chronic kidney insufficiency or failure. For the wider public and health authorities, CKD evokes kidney replacement therapy (KRT). In Spain, the prevalence of KRT is 0.13%. Thus health authorities may consider CKD a non-issue: very few persons eventually need KRT and, for those in whom kidneys fail, the problem is 'solved' by dialysis or kidney transplantation. However, KRT is the tip of the iceberg in the burden of CKD. The main burden of CKD is accelerated ageing and premature death. The cut-off points for kidney function and kidney damage indexes that define CKD also mark an increased risk for all-cause premature death. CKD is the most prevalent risk factor for lethal coronavirus disease 2019 (COVID-19) and the factor that most increases the risk of death in COVID-19, after old age. Men and women undergoing KRT still have an annual mortality that is 10- to 100-fold higher than similar-age peers, and life expectancy is shortened by ~40 years for young persons on dialysis and by 15 years for young persons with a functioning kidney graft. CKD is expected to become the fifth greatest global cause of death by 2040 and the second greatest cause of death in Spain before the end of the century, a time when one in four Spaniards will have CKD. However, by 2022, CKD will become the only top-15 global predicted cause of death that is not supported by a dedicated well-funded Centres for Biomedical Research (CIBER) network structure in Spain. Realizing the underestimation of the CKD burden of disease by health authorities, the Decade of the Kidney initiative for 2020-2030 was launched by the American Association of Kidney Patients and the European Kidney Health Alliance. Leading Spanish kidney researchers grouped in the kidney collaborative research network Red de Investigación Renal have now applied for the Redes de Investigación Cooperativa Orientadas a Resultados en Salud (RICORS) call for collaborative research in Spain with the support of the Spanish Society of Nephrology, Federación Nacional de Asociaciones para la Lucha Contra las Enfermedades del Riñón and ONT: RICORS2040 aims to prevent the dire predictions for the global 2040 burden of CKD from becoming true
Whole-genome sequencing reveals host factors underlying critical COVID-19
- Author
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- Stuckey A.
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- Subramanian D.
- Subramanian G.
- Suchartlikitwong P.
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- Sukumaran A.
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- Summers C.
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- Sutherland S.-B.
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- Tang L.
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- Taylor M.
- Taylor M.
- Taylor M.
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- Templeton M.
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- Tenesa A.
- Tenesa A.
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- Thirlwall Y.
- Thirumaran M.
- Thomas A.
- Thomas A.
- Thomas B.
- Thomas E.
- Thomas H.
- Thomas J.
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- Thomas V.
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- Thompson R.
- Thompson R.C.
- Thomson N.
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- Thorpe C.
- Thrasyvoulou L.
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- Thwaites V.
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- Tibke C.
- Tierney C.
- Tilbey S.
- Tilney E.
- Timlick E.
- Timmers P.R.H.J.
- Ting L.
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- Tivenan H.
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- Todd A.
- Todd L.
- Tolson M.
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- Tommasi A.
- Tonks L.
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- Tracy B.
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- Underwood S.J.
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- Valentino F.
- van Blokland I.
- van Heel D.A.
- van Koutrik L.
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- Vecchia M.
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- Veerapen K.
- Venkatesh H.
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- Verma A.
- Verma S.S.
- Vertue M.
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- Vochin A.
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- von Frenckell C.
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- Walker S.
- Walker S.
- Wall A.
- Walsh T.
- Walsh T.
- Walters R.K.
- Walton O.
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- Wang J.
- Wang X.
- Wanying Z.
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- Ward L.
- Ward M.
- Warden S.
- Warmerdam R.
- Warren D.
- Wassall H.
- Wasson C.
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- Webster A.
- Webster D.
- Webster K.
- Wei S.
- Weiss S.T.
- Weldon C.H.
- Wells C.
- Welters I.D.
- Weston H.
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- White I.
- White K.
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- Whiteley S.
- Whiteside J.
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- Wilby E.
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- Wilding L.
- Wiles M.
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- Williams D.
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- Williams H.
- Williams K.
- Williams M.
- Williams P.
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- Williams T.
- Willis C.
- Willis H.
- Wills M.
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- Wilson D.J.
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- Wilson J.F.
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- Wood H.-L.
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- Woodford C.
- Woodruff M.
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- Woodyatt W.
- Woolley A.E.
- Worner R.
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- Wray G.
- Wren L.
- Wrey Brown C.
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- 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.
- Zechner M.
- Zguro K.
- Zhang M.
- Zhao J.H.
- Zheng C.
- Zhou W.
- Zitter L.
- Zlatopolsky M.
- Zongo O.
- Zucchi P.
- Zyndorf M.
- Zöllner S.
- Åsvold B.O.
- Publication venue
- Springer Science and Business Media LLC
- Publication date
- 07/07/2022
- 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 hospitalization2,3,4 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
Recommended from our members
Implementation of NUREG-1318 guidance within the Yucca Mountain Project
- Publication venue
- Science Applications International Corporation
- Publication date
- 01/04/1990
- Field of study
The US Department of Energy`s Yucca Mountain Project is implementing a quality assurance program that fulfills the requirements of the US Nuclear Regulatory Commission (NRC). Additional guidance for this program was provided in NUREG 1318, ``Technical Position on Items and Activities in the High-Level Waste Geologic Repository Program Subject to Quality Assurance Requirements`` for identification of items and activities important to public radiological safety and waste isolation. The process and organization for implementing this guidance is discussed. 3 refs., 2 figs
Beyond empathy: expanding expressions of caring
- Author
- Baier S.
- Benner P.
- Berne E.
- Boyd C.O.
- Charmaz K.
- Cook S.
- Copp L.A.
- Diers D.
- Ehmann V.E.
- Forsyth G.L.
- Forsyth G.L.
- French H.P.
- Gadow S.
- Gadow S.
- Gadow S.
- Gordon M.
- Holden R.J.
- Holliday J.
- Kalisch B.J.
- Knobbe T.M.
- Kunst-Wilson W.
- La Monica E.L.
- Lear M.W.
- Ludemann R.S.
- MacKay R.
- MacKay R.C.
- Morse J.M.
- Morse J.M.
- Olson J.K.
- Radner G.
- Reynolds W.J.
- Rollins B.
- Ryan C.
- Smith S.J.
- Stinson R.
- Teasdale K.
- Travelbee J.
- Travelbee J.
- Triplett J.L.
- Weiss CJ.
- Zderad L.T.
- Zderad L.T.
- Publication venue
- 'Wiley'
- Publication date
- Field of study
Heart Failure and Cognitive Impairment: Clinical Relevance and Therapeutic Considerations
- Author
- Abete P.
- Agarwal K.S.
- Akiyama H.
- Alagiakrishnan K.
- Aldrugh S.
- Alosco M.L.
- Alosco M.L.
- Alosco M.L.
- Andrade J.G.
- Anker S.D.
- Athilingam P.
- Athilingam P.
- Austin B.P.
- Bakal J.A.
- Baldasseroni S.
- Barnes N.M.
- Bartko P.E.
- Bhattacharya P.
- Boustani M.
- Brassard P.
- Bratzke L.C.
- Bunch T.J.
- Bunch T.J.
- Butrous H.
- Byrne C.J.
- Cacciatore F.
- Cacciatore F.
- Calvin J.E.
- Cameron J.
- Cameron J.
- Candia A.M.
- Cannon J.A.
- Cannon J.A.
- Cannon J.A.
- Canter P.H.
- Cermakova P.
- Cermakova P.
- Chen L.Y.
- Chiesa A.
- Choi Y.H.
- Cleland J.G.
- Conti J.B.
- Cubbon R.M.
- Dardiotis E.
- de Bruijn R.F.
- De la Toree J.C.
- de la Torre J.C.
- de La Torre J.C.
- De Vecchis R.
- Dementia C.
- Dixit N.K.
- Dodson J.A.
- Dunbar S.B.
- Duncker D.
- Erkelens C.D.
- Feola M.
- Ferdinand Visco
- Festa J.R.
- Florea V.G.
- Fosbol E.L.
- Franciosa J.A.
- Fu Q.
- Gallini A.
- Gelow J.M.
- Gerald Pekler
- Gheorghiade M.
- Goh K.L.
- Goldstein N.E.
- Green A.R.
- Gruhn N.
- Gupta A.
- Gure T.R.
- Haegeli L.
- Handa T.
- Hess P.L.
- Hillman C.H.
- Hoth K.F.
- Huynh Q.
- Huynh Q.L.
- Iadecola C.
- Jacobs V.
- Jacobs V.
- Jacobs V.
- Jama A.
- Jefferson A.L.
- Jefferson A.L.
- Jefferson A.L.
- Jencks S.F.
- Jhund P.S.
- Juilliere Y.
- Kahonen-Vare M.
- Kearney P.M.
- Kfoury A.G.
- Kim J.H.
- Kirchhof P.
- Kirchhof P.
- Krantz M.J.
- Kreisman N.R.
- Kwok C.S.
- Kwok C.S.
- Lan H.
- Langenickel T.H.
- Launer L.J.
- Leeuwis A.E.
- Lewington S.
- Liao J.N.
- Liebeskind D.S.
- Lin A.H.
- Lip G.Y.
- Liu L.
- Malik A.S.
- Marrouche N.F.
- Matlock D.D.
- Meguro T.
- Mene-Afejuku T.O.
- Moffitt P.
- Monica Pernia
- Montagne A.
- Nalivaeva N.N.
- Newberg A.B.
- Numan T.
- Ohrui T.
- Okazaki Y.
- Pandav R.
- Park-Wyllie L.Y.
- Pettersen J.A.
- Pullicino P.M.
- Qiu C.
- Qiu C.
- Quiroz R.
- Raina P.
- Rattinger G.B.
- Reale M.
- Rickards C.A.
- Riegel B.
- Rivard L.
- Rêgo M.L.
- Sabayan B.
- Sadeghian H.
- Salmoirago-Blotcher E.
- Sato K.
- Savaskan E.
- Savi Mushiyev
- Scanlan J.
- Scrutinio D.
- Setoguchi S.
- Shah S.R.
- Shobhana Chaudhari
- Sila C.A.
- Sink K.M.
- Staerk L.
- Stellos K.
- Stilley C.S.
- Swain R.A.
- Tanaka A.
- Tanne D.
- Tanner H.
- Tedesco M.A.
- Tempest G.D.
- Thacker E.L.
- Tuoyo O. Mene-Afejuku
- Uzoma N. Ibebuogu
- van der Velpen I.F.
- Van Praag H.
- Viswanathan G.
- Vogels R.L.
- Waldstein S.R.
- Wallin K.
- Wanless R.B.
- Woo M.A.
- Wu J.R.
- Wu J.R.
- Yancy C.W.
- Yancy C.W.
- Zekry D.
- Zhu C.W.
- Zito M.
- Zou K.
- Zuccalà G.
- Zuccalà G.
- Publication venue
- 'Bentham Science Publishers Ltd.'
- Publication date
- Field of study
BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers
- Author
- Agnarsson B.A. (Bjarni)
- Aittomäki K. (Kristiina)
- Andrulis I.L. (Irene)
- Anton-Culver H. (Hoda)
- Antoniou A.C. (Antonis)
- Bandera E.V. (Elisa)
- Banerjee S. (Susana)
- Barile M. (Monica)
- Barrowdale D. (Daniel)
- Beckmann M.W. (Matthias)
- Beeghly-Fadiel A. (Alicia)
- Benítez J. (Javier)
- Berchuck A. (Andrew)
- Bjorge L. (Line)
- Blomqvist C. (Carl)
- Bogdanova N.V. (Natalia)
- Bojesen S.E. (Stig)
- Bolla M.K. (Manjeet)
- Borg Å. (Åke)
- Borresen-Dale A.-L. (Anne-Lise)
- Brauch H. (Hiltrud)
- Brenner H. (Hermann)
- Broeks A. (Annegien)
- Bruinsma F. (Fiona)
- Brunet J. (Joan)
- Brüning T. (Thomas)
- Burwinkel B. (Barbara)
- Butterbach K. (Katja)
- Butzow R. (Ralf)
- Buys S.S. (Saundra)
- Cai H. (Hui)
- Campbell I. (Ian)
- Cannioto R. (Rikki)
- Castillo D. (Danielle)
- Chan S. (Salina)
- Chang-Claude J. (Jenny)
- Chenevix-Trench G. (Georgia)
- Claes K.B.M. (Kathleen B.M.)
- Collavoli A. (Anita)
- Cook L.S. (Linda S.)
- Couch F.J. (Fergus)
- Cox A. (Angela)
- Cramer D. (Daniel)
- Cross S.S. (Simon)
- Cunningham J.M. (Julie)
- Czene K. (Kamila)
- Daly M.B. (Mary B.)
- Damiola F. (Francesca)
- Darabi H. (Hatef)
- Dennis J. (Joe)
- Devilee P. (Peter)
- Ding Y.C. (Yuan)
- Doherty J.A. (Jennifer A.)
- Domchek S.M. (Susan)
- Dorfling C.M. (Cecilia)
- Dunning A.M. (Alison)
- Díez O. (Orland)
- Dörk T. (Thilo)
- Easton D.F. (Douglas F.)
- Eccles D. (Diana)
- Ellis S.D. (Steve)
- Eunjung L. (Lee)
- Fasching P.A. (Peter)
- Feng B. (Bingjian)
- Figueroa J.D. (Jonine)
- Flesch-Janys D. (Dieter)
- Fletcher O. (Olivia)
- Flyger H. (Henrik)
- Foretova L. (Lenka)
- Fostira F. (Florentia)
- Friedman E. (Eitan)
- Frost D. (Debra)
- Ganz P.A. (Patricia A.)
- Gao Y. (Ying)
- Garber J. (Judy)
- García-Closas M. (Montserrat)
- Gayther S.A. (Simon)
- Gerdes A-M. (Anne-Marie)
- Giles G.G. (Graham)
- Glasspool R. (Rosalind)
- Godwin A.K. (Andrew K.)
- Goldberg M.S. (Mark)
- Goldgar D. (David)
- González-Neira A. (Anna)
- Goode E.L. (Ellen L.)
- Goodman M.T. (Marc T.)
- Greene M.H. (Mark H.)
- Gronwald J. (Jacek)
- Guénel P. (Pascal)
- Hahnen E. (Eric)
- Haiman C.A. (Christopher A.)
- Hall P. (Per)
- Hallberg B. (Boubou)
- Hamann U. (Ute)
- Hansen T.V.O. (Thomas)
- Hart S.N. (Steven N.)
- Healey S. (Sue)
- Heitz P.U.
- Henderson B.E. (Brian)
- Henriksson K. (Karin)
- Hildebrant M.A.T. (Michelle A.T.)
- Hogervorst F.B.L. (Frans)
- Hopper J.L. (John)
- Hosono N. (Naoya)
- Hoya M.D.L. (Miguel De La)
- Hulick P.J. (Peter)
- Høgdall C.K. (Claus)
- Høgdall E. (Estrid)
- Imyanitov E.N. (Evgeny)
- Isaacs C. (Claudine)
- Jakubowska A. (Anna)
- James M. (Margaret)
- Janavicius R. (Ramunas)
- Jensen A. (Allen)
- John E.M. (Esther)
- Johnson N. (Nichola)
- Jones M. (Michael)
- Kabisch M. (Maria)
- Karlan B.Y. (Beth Y.)
- Khan S. (Sofia)
- Kiemeney L.A.L.M. (Bart)
- Kjaer M. (Michael)
- Knight J.A. (Julia A.)
- Konstantopoulou I. (I.)
- Koppert L.B. (Linetta)
- Kosma V-M. (Veli-Matti)
- Kristensen V. (Vessela)
- Kupryjanczyk J. (Jolanta)
- Kwong A. (Ava)
- Laitman Y. (Yael)
- Lambrechts D. (Diether)
- Le N. (Nhu)
- Lester K.J. (Kathryn)
- Levine D.A. (Douglas)
- Li J. (Jingmei)
- Liang D. (Dong)
- Lindblom A. (Annika)
- Loud J.T. (Jennifer)
- Lu K.H. (Karen)
- Lubinski J. (Jan)
- Lázaro C. (Conxi)
- Mai P.L. (Phuong)
- Mannermaa A. (Arto)
- Manoukian S. (Siranoush)
- Margolin S. (Sara)
- Marme F. (Federick)
- Massuger L.F. (Leon)
- Matsuo K. (Keitaro)
- Maugard C.
- Mazoyer S. (Sylvie)
- McGuffog L. (Lesley)
- McNeish I. (Iain)
- Meeks H.D. (Huong D.)
- Meindl A. (Alfons)
- Menon U. (Usha)
- Michailidou K. (Kyriaki)
- Milne R.L. (Roger)
- Modugno F. (Francesmary)
- Moes-Sosnowska J. (Joanna)
- Montagna M. (Marco)
- Monteiro A.N.A. (Alvaro N.A.)
- Moysich K.B. (Kirsten B.)
- Narod S. (Steven)
- Nathanson K.L. (Katherine)
- Ness R.B. (Roberta)
- Neuhausen S.L. (Susan)
- Nevanlinna H. (Heli)
- Neven P. (Patrick)
- Nussbaum R. (Robert)
- Offit K. (Kenneth)
- Olah E. (Edith)
- Oliani C. (Cristina)
- Olopade O.I. (Olufunmilayo I.)
- Olson J.E. (Janet)
- Olson S.H. (Sara)
- Osorio A. (Ana)
- Ouweland A.M.W. (Ans) van den
- Park S.K. (Sue K.)
- Pasini B. (Barbara)
- Pearce L. (Leigh)
- Pedersen I.S. (Inge Sokilde)
- Peissel B. (Bernard)
- Peixoto A. (Ana)
- Pejovic T. (Tanja)
- Pelttari L.M. (Liisa)
- Peterlongo P. (Paolo)
- Pharoah P.D.P. (Paul)
- Phelan C. (Catherine)
- Piedmonte M. (Marion)
- Poole E.M. (Elizabeth)
- Pykäs K. (Katri)
- Radice P. (Paolo)
- Ramus S.J. (Susan)
- Rantala J. (Johanna)
- Rappaport-Feurhauser C. (Christine)
- Rennert G. (Gad)
- Rensburg E.J. (Elizabeth) van
- Riboli E. (Elio)
- Risch H. (Harvey)
- Robson M. (Mark)
- Rossing M.A. (Mary Anne)
- Rudolph A. (Anja)
- Salvesen H.B. (Helga)
- Sawyer E.J. (Elinor)
- Schildkraut J.M. (Joellen)
- Schmidt M.K. (Marjanka)
- Schoemaker M. (Minouk)
- Segura P.P. (Pedro Perez)
- Senter L. (Leigha)
- Shah M. (Mitul)
- Shimelis H. (Hermela)
- Siddiquil N. (Nadeem)
- Sieh W. (Weiva)
- Simard J. (Jacques)
- Singer C.F. (Christian)
- Sinilnikova O. (Olga)
- Slager S. (Susan)
- Song H. (Honglin)
- Soucy P. (Penny)
- Southey M.C. (Melissa)
- Spurdle A.B. (Amanda)
- Stoppa-Lyonnet D. (Dominique)
- Swerdlow A.J. (Anthony )
- Teixeira P.J.
- Teo S.-H. (Soo-Hwang)
- Terry K.L. (Kathryn)
- Terry M.B. (Mary Beth)
- Tesoriero A. (Andrea)
- Thomassen M. (Mads)
- Thompson P.J. (Pamela J.)
- Tihomirova L. (Laima)
- Tischkowitz M. (Marc)
- Tollenaar R.A.E.M. (Rob)
- Tomlinson I. (Ian)
- Torres D. (Diana)
- Truong T. (Thérèse)
- Tucker K. (Kathy)
- Tung N. (Nadine)
- Tworoger S. (Shelley)
- Van Maerken T. (Tom)
- Varon-Mateeva R. (Raymonda)
- Viel A. (Alessandra)
- Wang Q. (Qing)
- Wapenschmidt B. (Barbara)
- Weitzel J.N. (Jeffrey)
- Wentzensen N. (N.)
- Whittermore A.S. (Alice S.)
- Winqvist R. (Robert)
- Woo Y.L. (Yin Ling)
- Wu A. (Anna)
- Yoon S.-Y. (Sook-Yee)
- Zheng W. (Wei)
- Öfverholm A. (Anna)
- Publication venue
- 'Oxford University Press (OUP)'
- Publication date
- 01/02/2016
- Field of study
Background: The K3326X variant in BRCA2 (BRCA2∗c.9976A>T p.Lys3326∗rs11571833) has been found to be associated with small increased risks of breast cancer. However, it is not clear to what extent linkage disequilibrium with fully pathogenic mutations might account for this association. There is scant information about the effect of K3326X in other hormonerelated cancers. Methods: Using weighted logistic regression, we analyzed data from the large iCOGS study including 76637 cancer case patients and 83796 control patients to estimate odds ratios (ORw) and 95% confidence intervals (CIs) for K3326X variant carriers in relation to breast, ovarian, and prostate cancer risks, with weights defined as probability of not having a pathogenic BRCA2 variant. Using Cox proportional hazards modeling, we also examined the associations of K3326X with breast and ovarian cancer risks among 7183 BRCA1 variant carriers. All statistical tests were two-sided. Results: The K3326X variant was associated with breast (ORw = 1.28, 95% CI = 1.17 to 1.40, P = 5.9×10-6) and invasive ovarian cancer (ORw = 1.26, 95% CI = 1.10 to 1.43, P = 3.8×10-3). These associations were stronger for serous ovarian cancer and for estrogen receptor-negative breast cancer (ORw = 1.46, 95% CI = 1.2 to 1.70, P = 3.4×10-5 and ORw = 1.50, 95% CI = 1.28 t
Problems and Tactics in the Transcultural Study of Intelligence: An Archival Report
- Author
- Abbott Jack H.
- Abiola E.T.
- Ajisafe A.K.
- Almy Millie
- Almy Millie
- Ammar Hamed
- Baker Russell
- Baldwin A.Y.
- Banfield Edward C.
- Barth F.
- Barton R.F.
- Bateson Gregory
- Beaglehole Ernest
- Beaglehole Ernest
- Beals R.L.
- Belgrave C.D.
- Benjamin Geoffrey
- Bernatzik Hugo A.
- Binet Alfred
- Biscoe C.E.T.
- Bjerre Jens n.d.
- Blaise C.
- Blust R.A.
- Boas Franz
- Bohannan Paul
- Boilat P.
- Bowers Alfred W.
- Braginsky B.M.
- Bromley M.
- Browne Charles R.
- Burckhardt J.L.
- Cahill K.M.
- Camman S.
- Canaan T.
- Carey Iskandar Yusof
- Cipriani Lidio
- Cline W.B.
- Cole M.
- Collings H.D.
- Colson Elizabeth
- Covarrubias Miguel
- Cowley J.J.
- Das K.
- Davitz Joel
- Dent G.R.
- Doughty C.M.
- Drucker Philip
- DuBois Cora
- Dunn F.L.
- Eaton J.W.
- Echols J.M.
- Edgerton Robert B.
- Edgerton Robert B.
- Edgerton Robert B.
- Embree John F.
- Endicott Kurt M.
- Erchak Gerald M.
- Etuk E.
- Evans Judith L.
- Fick M. Lawrence
- Firth Raymond
- Fortune Reo
- Francisco J.R.
- Fraser Thomas M., Jr.
- Frazer James G.
- Fuchs S.
- Furness W.H.
- Gajdusek D.C.
- Gimlette John D.
- Gladwin Thomas
- Gladwin Thomas
- Glazer Nathan
- Gluckman Max
- Gomes E.H.
- Goodenough Ward H.
- Gorer Geoffrey
- Green P.
- Griffiths Walter G.
- Grimson W.V.
- Guilford J.P.
- Gutmann Bruno
- Gwaltney John L.
- Haar B. ter
- Hamilton A.W.
- Harner M.J.
- Hart B.
- Harth Robert
- Hawes C.H.
- Hilger M. Inez
- Hill Willard W.
- Hippler Arthur E.
- Hitchcock J.T.
- Holtzinger Karl J.
- Hunt Edward E
- Hurley Rodger L.
- Irvine Sidney
- Iskander T.
- Jamuh G.
- Jenks A.E.
- Johnson D.L.
- Jumsai M.M.L.
- Kagan J.
- Kamin L.J.
- Kelley Truman L.
- Kenyatta Jomo
- Khaing M.M.
- Kharuzin N.
- Koch R.
- Korn Victor E.
- Kuhn T.S.
- Kuper H.
- Lamson H.D.
- Landor Arnold
- Lane E.W.
- League of Nations Health Organization
- Leighton Dorothea
- Leslau C.
- Levy R.L.
- Lienhardt G.
- Linton Ralph
- Loades H.R.
- Loschen E.L.
- Mahathir bin Mohamad
- Maine Henry S.
- Makerere University College
- Malinowski Bronislaw
- Man Edward H.
- Masland Richard L.
- Masters W.M.
- Mayne J.D.
- McFie John
- McIlwraith Thomas F.
- Mead Margaret
- Messenger John C.
- Muller W.
- Murad A., bin Nasruddin
- Murdock George Peter
- Musil Alois
- Nadel S.F.
- Naroll Raoul
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- Newcomb F.J.
- Nissen H. W. S. Machover
- Noone Richard
- Notcutt Bernard
- Ocampo S.
- Office of Naval Operations U.S. Navy.
- Okorodudu C.
- Ombredane André
- Oosterwal G.
- Organisation Mondale de la Sante (OMS)
- Orsanu J.
- Pfaff W.
- Pottinger P.S.
- Price-Williams Douglas R.
- Pyle W.H.
- Radin Paul
- Rattray R.S.
- Redfield R.
- Reichard Gladys A.
- Rice Berkeley
- Rich S.G.
- Richard Audrey
- Rivers W.L.
- Rivers William H. R.
- Savage-Landor A. Henry
- Schell Jonathan
- Schwartz J.
- Shirokogoroff S.M.
- Shternberg L. Iak.
- Silberman A.
- Silvey Jonathan
- Skeat Walter W.
- Skeat Walter W.
- Soeffing Marylane Y.
- Spearman Charles E.
- Spiro Melford E.
- Stephens John L.
- Stone R.
- Sumner William Graham
- Swift M.G.
- Temple Richard C.
- Thompson V.M.
- Thurstone L.L.
- Topinard P.
- Tsybikov G.T.
- Tyler R.W.
- Uka N.
- Underhill R.M.
- Van den Haag E.
- Vergouwen Jacob C.
- Wagley Charles
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- Weisman Abner I.
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- Wilson Peter J.
- Winick M.
- Wylie L.
- Young J.Z.
- Publication venue
- 'SAGE Publications'
- Publication date
- Field of study
Whole-genome sequencing reveals host factors underlying critical COVID-19
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- Abd Elghafar Mohamed S.
- Abdel-Aziz Mahmoud
- Abdelrazik Marwa
- Abdollahi Hamed
- Abdullah T.
- Abecasis Goncalo
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- Abel Lynn
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- AlBardis H.
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- Aldridge J.
- Aleagha Afshar Etemadi
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- Aquino Maia
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- Atkinson E.G.
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- de Almeida Martins L.G.
- de Cid R.
- de Geus E.
- de Gordoa Laura Ortiz-Ruiz
- de la Cal-Sabater P.
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- Di Angelantonio Emanuele
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- Drummond Andy
- Duberly Stephen
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- Åsvold Bjørn Olav
- Publication venue
- Publication date
- 01/01/2022
- Field of study
Altres ajuts: Department of Health and Social Care (DHSC); Illumina; LifeArc; Medical Research Council (MRC); UKRI; Sepsis Research (the Fiona Elizabeth Agnew Trust); the Intensive Care Society, Wellcome Trust Senior Research Fellowship (223164/Z/21/Z); BBSRC Institute Program Support Grant to the Roslin Institute (BBS/E/D/20002172, BBS/E/D/10002070, BBS/E/D/30002275); UKRI grants (MC_PC_20004, MC_PC_19025, MC_PC_1905, MRNO2995X/1); UK Research and Innovation (MC_PC_20029); the Wellcome PhD training fellowship for clinicians (204979/Z/16/Z); the Edinburgh Clinical Academic Track (ECAT) programme; the National Institute for Health Research, the Wellcome Trust; the MRC; Cancer Research UK; the DHSC; NHS England; the Smilow family; the National Center for Advancing Translational Sciences of the National Institutes of Health (CTSA award number UL1TR001878); the Perelman School of Medicine at the University of Pennsylvania; National Institute on Aging (NIA U01AG009740); the National Institute on Aging (RC2 AG036495, RC4 AG039029); the Common Fund of the Office of the Director of the National Institutes of Health; NCI; NHGRI; NHLBI; NIDA; NIMH; NINDS.Critical COVID-19 is caused by immune-mediated inflammatory lung injury. Host genetic variation influences the development of illness requiring critical care or hospitalization 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