Zobrazeno 1 - 10
of 86
pro vyhledávání: '"NIHR BioResource - Rare Diseases"'
Publikováno v:
Scientific Reports, Vol 8, Iss 1, Pp 1-17 (2018)
Abstract Telomere length is a risk factor in disease and the dynamics of telomere length are crucial to our understanding of cell replication and vitality. The proliferation of whole genome sequencing represents an unprecedented opportunity to glean
Externí odkaz:
https://doaj.org/article/925eca9b0f364764afe1780662261112
Autor:
NIHR BioResource-Rare Diseases, 1001000 Genomes Project-Rare Diseases Pilot, Wei, Wei, Tuna, Salih, Keogh, Michael J., Smith, Katherine R., Aitman, Timothy J., Beales, Phil L., Bennett, David L., Gale, Daniel P., Bitner-Glindzicz, Maria A. K., Black, Graeme C., Brennan, Paul, Elliott, Perry, Flinter, Frances A., Floto, R. Andres, Houlden, Henry, Irving, Melita, Koziell, Ania, Maher, Eamonn R., Markus, Hugh S., Morrell, Nicholas W., Newman, William G., Roberts, Irene, Sayer, John A., Smith, Kenneth G. C., Taylor, Jenny C., Watkins, Hugh, Webster, Andrew R., Wilkie, Andrew O. M., Williamson, Catherine, Ashford, Sofie, Penkett, Christopher J., Stirrups, Kathleen E., Rendon, Augusto, Ouwehand, Willem H., Bradley, John R., Raymond, F. Lucy, Caulfield, Mark, Turro, Ernest, Chinnery, Patrick F.
Publikováno v:
Science, 2019 May . 364(6442), 749-749.
Externí odkaz:
https://www.jstor.org/stable/26681411
Autor:
T Tilly, K Auckland, R Nibhani, J Martin, N Nihr Bioresource - Rare Diseases, N National Cohort Study Of Idiopathic And Herit, N W Morrell, P Lio', S Gräf
Publikováno v:
13.01 - Pulmonary hypertension.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e5b2b19b6cddbf4d669926167f77cc9d
https://doi.org/10.1183/13993003.congress-2022.2543
https://doi.org/10.1183/13993003.congress-2022.2543
Autor:
Machado, Rajiv D., Welch, Carrie L., Haimel, Matthias, Bleda, Marta, Colglazier, Elizabeth, Coulson, John D., Debeljak, Marusa, Ekstein, Josef, Fineman, Jeffrey R., Golden, William Christopher, Griffin, Emily Leann, Hadinnapola, Charaka, Harris, Michael A., Hirsch, Yoel, Hoover-Fong, Julie Elizabeth, Nogee, Lawrence, Romer, Lewis H., Vesel, Samo, NIHR Bioresource – Rare Diseases, Gräf, Stefan, Morrell, Nicholas W., Southgate, Laura, Chung, Wendy K.
Background: The molecular genetic basis of pulmonary arterial hypertension (PAH) is heterogeneous, with at least 26 genes displaying putative evidence for disease causality. Heterozygous variants in the ATP13A3 gene were recently identified as a new
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b377d38dfeefd38969f9d3e0d555ef93
https://openaccess.sgul.ac.uk/id/eprint/113689/6/jmedgenet-2021-107831.full.pdf
https://openaccess.sgul.ac.uk/id/eprint/113689/6/jmedgenet-2021-107831.full.pdf
Autor:
Anna Ulrich, Pablo Otero-Núñez, John Wharton, Emilia M. Swietlik, Stefan Gräf, Nicholas W. Morrell, Dennis Wang, Allan Lawrie, Martin R. Wilkins, Inga Prokopenko, Christopher J. Rhodes, on behalf of The NIHR BioResource—Rare Diseases Consortium, UK PAH Cohort Study Consortium
Publikováno v:
Genes
Genes, Vol 11, Iss 1247, p 1247 (2020)
Volume 11
Issue 11
Genes, Vol 11, Iss 1247, p 1247 (2020)
Volume 11
Issue 11
Expression quantitative trait loci (eQTL) can provide a link between disease susceptibility variants discovered by genetic association studies and biology. To date, eQTL mapping studies have been primarily conducted in healthy individuals from popula
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0cb01339dbe8670f6adf38632007e427
http://hdl.handle.net/10044/1/84938
http://hdl.handle.net/10044/1/84938
Autor:
Rhodes, Christopher J, Otero-Núñez, Pablo, Wharton, John, Swietlik, Emilia M, Kariotis, Sokratis, Harbaum, Lars, Dunning, Mark J, Elinoff, Jason M, Errington, Niamh, Thomson, AA Roger, Iremonger, James, Coghlan, J Gerry, Corris, Paul A, Howard, Luke S, Kiely, David G, Church, Colin, Pepke-Zaba, Joanna, Toshner, Mark, Wort, Stephen J, Desai, Ankit A, Humbert, Marc, Nichols, William C, Southgate, Laura, Trégouët, David-Alexandre, Trembath, Richard C, Prokopenko, Inga, Gräf, Stefan, Morrell, Nicholas W, Wang, Dennis, Lawrie, Allan, Wilkins, Martin R, NIHR BioResource – Rare Diseases PAH Consortium And The UK National PAH Cohort Study Consortium
RATIONALE: Idiopathic and hereditary pulmonary arterial hypertension (PAH) are rare but comprise a genetically heterogeneous patient group. RNA-sequencing linked to the underlying genetic architecture can be used to better understand the underlying p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6836090e0ad83d93e6180f51375c3308
Autor:
Ulrich, A, Wharton, J, Thayer, TE, Swietlik, EM, Assad, TR, Desai, AA, Gräf, S, Harbaum, L, Humbert, M, Morrell, NW, Nichols, WC, Soubrier, F, Southgate, L, Trégouët, D-A, Trembath, RC, Brittain, EL, Wilkins, MR, Prokopenko, I, Rhodes, CJ, NIHR BioResource – Rare Diseases Consortium, UK PAH Cohort Study Consortium, US PAH Biobank Consortium
Pulmonary arterial hypertension (PAH) is a rare disease that leads to premature death from right heart failure. It is strongly associated with elevated red cell distribution width (RDW), a correlate of several iron status biomarkers. High RDW values
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::5d8e24af37d202b069b3d2a7ce4e8632
Autor:
Lawless, Dylan, Lango Allen, Hana, Thaventhiran, James, NIHR BioResource–Rare Diseases Consortium, Hodel, Flavia, Anwar, Rashida, Fellay, Jacques, Walter, Jolan E, Savic, Sinisa
While widespread genome sequencing ushers in a new era of preventive medicine, the tools for predictive genomics are still lacking. Time and resource limitations mean that human diseases remain uncharacterized because of an inability to predict clini
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______109::00eec84d9e2bbd486a4c825e3fc2cb9d
https://www.repository.cam.ac.uk/handle/1810/300403
https://www.repository.cam.ac.uk/handle/1810/300403
Autor:
Fasham, James, Arno, Gavin, Lin, Siying, Xu, Mingchu, Carss, Keren J, Hull, Sarah, Lane, Amelia, Robson, Anthony G, Wenger, Olivia, Self, Jay E, Harlalka, Gaurav V, Salter, Claire G, Schema, Lynn, Moss, Timothy J, Cheetham, Michael E, Moore, Anthony T, Raymond, F Lucy, Chen, Rui, Baple, Emma L, Webster, Andrew R, Crosby, Andrew H, NIHR Bioresource Rare Diseases Consortium
Publikováno v:
American journal of medical genetics. Part A, vol 179, iss 8
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______325::d59363272aeab81d6a51fe68d66f5958
https://escholarship.org/uc/item/28q3v47s
https://escholarship.org/uc/item/28q3v47s
Autor:
Tan, Rhea YY, Traylor, Matthew, Megy, Karyn, Duarte, Daniel, Deevi, Sri, Shamardina, Olga, Mapeta, Rutendo P, NIHR BioResource: Rare Diseases Consortium, Ouwehand, Willem H, Gräf, Stefan, Downes, Kate, Markus, Hugh S
OBJECTIVES: To determine the frequency of rare and pertinent disease-causing variants in small vessel disease (SVD)-associated genes (such as NOTCH3, HTRA1, COL4A1, COL4A2, FOXC1, TREX1, and GLA) in cerebral SVD, we performed targeted gene sequencing
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb76e58bb3e2a72c15038d6f8f7843b2