Rare variant analysis in eczema identifies exonic variants in DUSP1, NOTCH4 and SLC9A4

Autor: Sarah Grosche, Ingo Marenholz, Jorge Esparza-Gordillo, Aleix Arnau-Soler, Erola Pairo-Castineira, Franz Rüschendorf, Tarunveer S. Ahluwalia, Catarina Almqvist, Andreas Arnold, Australian Asthma Genetics Consortium (AAGC), Hansjörg Baurecht, Hans Bisgaard, Klaus Bønnelykke, Sara J. Brown, Mariona Bustamante, John A. Curtin, Adnan Custovic, Shyamali C. Dharmage, Ana Esplugues, Mario Falchi, Dietmar Fernandez-Orth, Manuel A. R. Ferreira, Andre Franke, Sascha Gerdes, Christian Gieger, Hakon Hakonarson, Patrick G. Holt, Georg Homuth, Norbert Hubner, Pirro G. Hysi, Marjo-Riitta Jarvelin, Robert Karlsson, Gerard H. Koppelman, Susanne Lau, Manuel Lutz, Patrik K. E. Magnusson, Guy B. Marks, Martina Müller-Nurasyid, Markus M. Nöthen, Lavinia Paternoster, Craig E. Pennell, Annette Peters, Konrad Rawlik, Colin F. Robertson, Elke Rodriguez, Sylvain Sebert, Angela Simpson, Patrick M. A. Sleiman, Marie Standl, Dora Stölzl, Konstantin Strauch, Agnieszka Szwajda, Albert Tenesa, Philip J. Thompson, Vilhelmina Ullemar, Alessia Visconti, Judith M. Vonk, Carol A. Wang, Stephan Weidinger, Matthias Wielscher, Catherine L. Worth, Chen-Jian Xu, Young-Ae Lee

Publikováno v: Nature Communications, Vol 12, Iss 1, Pp 1-11 (2021)

Genetic studies of eczema to date have mostly explored common genetic variation. Here, the authors perform a large meta-analysis for common and rare variants and discover 8 loci associated with eczema. Over 20% of the heritability of the condition is

Externí odkaz: https://doaj.org/article/d54f293b9f924ec89242fe90b53feed8

How best to capture the respiratory consequences of prematurity?

Autor: Francesca Ciuffini, Colin F. Robertson, David G. Tingay

Publikováno v: European Respiratory Review, Vol 27, Iss 147 (2018)

Chronic respiratory morbidity is a common complication of premature birth, generally defined by the presence of bronchopulmonary dysplasia, both clinically and in trials of respiratory therapies. However, recent data have highlighted that bronchopulm

Externí odkaz: https://doaj.org/article/666cf8942d794f379aed662558865148

Reply to Turnbull et al. and to Hulme et al

Autor: Philip J. Robinson, Siobhain Brennan, Nicholas de Klerk, André Schultz, Colin F. Robertson, Daan Caudri, Joanne Harrison, Sarath Ranganathan, Lidija Turkovic, Anthony D. Keil, Oded Breuer, Peter D. Sly, S. Stick

Publikováno v: American Journal of Respiratory and Critical Care Medicine
American Journal of Respiratory and Critical Care Medicine, 201, 750-752. American Thoracic Society

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e42403b9a0eb052a3fb6ea9acfc555d0
https://doi.org/10.1164/rccm.201911-2213le

Correction: Genome-Wide Association Studies of Asthma in Population-Based Cohorts Confirm Known and Suggested Loci and Identify an Additional Association near HLA.

Autor: Adaikalavan Ramasamy, Mikko Kuokkanen, Sailaja Vedantam, Zofia K Gajdos, Alexessander Couto Alves, Helen N Lyon, Manuel A R Ferreira, David P Strachan, Jing Hua Zhao, Michael J Abramson, Matthew A Brown, Lachlan Coin, Shyamali C Dharmage, David L Duffy, Tari Haahtela, Andrew C Heath, Christer Janson, Mika Kähönen, Kay-Tee Khaw, Jaana Laitinen, Peter Le Souef, Terho Lehtimäki, Australian Asthma Genetics Consortium collaborators, Pamela A F Madden, Guy B Marks, Nicholas G Martin, Melanie C Matheson, Cameron D Palmer, Aarno Palotie, Anneli Pouta, Colin F Robertson, Jorma Viikari, Elisabeth Widen, Matthias Wjst, Deborah L Jarvis, Grant W Montgomery, Philip J Thompson, Nick Wareham, Johan Eriksson, Pekka Jousilahti, Tarja Laitinen, Juha Pekkanen, Olli T Raitakari, George T O'Connor, Veikko Salomaa, Marjo-Riitta Jarvelin, Joel N Hirschhorn

Publikováno v: PLoS ONE, Vol 8, Iss 3 (2013)

[This corrects the article DOI: 10.1371/journal.pone.0044008.].

Externí odkaz: https://doaj.org/article/731bc0c9a5f74d86b5e0ca5199bfcf97

Skin prick test predictive values for the outcome of cashew challenges in children

Autor: Melissa Wake, Vicki McWilliam, Jo A Douglass, Rachel L. Peters, Joanne Smart, Colin F. Robertson, Shyamali C. Dharmage, Dean Tey, Jennifer J. Koplin, Katrina J. Allen, Kirsten P Perrett, Peter Vuillermin, Mark Taranto, George C Patton, Terence Dwyer, Susan M Sawyer, Mimi L.K. Tang, Anne-Louise Ponsonby, Marnie Robinson, Lyle C. Gurrin, Adrian J. Lowe

Background: Cashew is a common cause of tree nut allergy in children. To date there have been few studies of diagnostic tests for cashew allergy, and positive predictive values (PPVs) for cashew as well as other tree nuts are largely extrapolated fro

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb4d2d3289b442d763413552a73b2bae
https://doi.org/10.1016/j.jaip.2019.05.057