Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Rhian L. Clissold"'
Publikováno v:
BMC Nephrology, Vol 24, Iss 1, Pp 1-4 (2023)
Abstract Background More than 4 billion doses of the Coronavirus disease (COVID-19) vaccine have been administered worldwide but the relationship between the different vaccines and the development of renal disease is unknown. We present a case of tub
Externí odkaz:
https://doaj.org/article/9cf36ad66bb34968a6c179a7c3208154
Autor:
Rhian L. Clissold, Beth Ashfield, Joe Burrage, Eilis Hannon, Coralie Bingham, Jonathan Mill, Andrew Hattersley, Emma L. Dempster
Publikováno v:
Clinical Epigenetics, Vol 10, Iss 1, Pp 1-11 (2018)
Abstract Heterozygous mutation of the transcription factor HNF1B is the most common cause of monogenetic developmental renal disease. Disease-associated mutations fall into two categories: HNF1B intragenic mutations and a 1.3 Mb deletion at chromosom
Externí odkaz:
https://doaj.org/article/4fd6e271d90c4a3ab620a37ca4c96694
Autor:
Rhian L. Clissold, Helen C. Clarke, Olivera Spasic-Boskovic, Kim Brugger, Stephen Abbs, Coralie Bingham, Charles Shaw-Smith
Publikováno v:
BMC Nephrology, Vol 18, Iss 1, Pp 1-6 (2017)
Abstract Background Heterozygous mutations in the gene encoding renin (REN) cause autosomal dominant tubulointerstitial kidney disease (ADTKD), early-onset anaemia and hyperuricaemia; only four different mutations have been described in the published
Externí odkaz:
https://doaj.org/article/1acf2d0038c14e7b8cf76acda1655f14
Autor:
Veronika Baresova, Miroslav Votruba, Kálmán Tory, Aleš Hnízda, Jakub Sikora, Matthias T.F. Wolf, Marisa Santostefano, Neila Belghith, Lídia Balogh, Jan Živný, Tal Kopel, Robert M. Haws, Bertrand Knebelmann, Andrea Wenzel, Bodo B. Beck, Lawrence R. Shoemaker, Laurent Mesnard, Anna Jakubowska, Kendrah Kidd, Charles Shaw-Smith, Christoforos Stavrou, Mayssa Abdelwahed, Constantinos Deltas, John A. Sayer, Claudio Graziano, Rhian L Clissold, Petr Vyleťal, Stanislav Kmoch, Victoria Robins, Howard Trachtman, Michael E. Bleyer, Marie Matignon, Anthony J. Bleyer, Kathleen Claes, Jana Sovová, Irene Capelli, Philippe Grimbert, Sharon M. Moe, Luca Rampoldi, Ivana Jedličková, Karsten Häeffner, Stéphane Decramer, Kateřina Hodaňová, Helena Trešlová, Matthew R. Sinclair, Raj Munshi, Gregory Papagregoriou, Hana Hartmannová, Albert C.M. Ong, Mohamad Zaidan, Agnieszka Łaszkiewicz, Amy N. Sussman, Claudia Izzi, Martina Živná, Helena Hůlková, Francesco Scolari
Publikováno v:
Kidney international. 98(6)
There have been few clinical or scientific reports of autosomal dominant tubulointerstitial kidney disease due to REN mutations (ADTKD-REN), limiting characterization. To further study this, we formed an international cohort characterizing 111 indivi
Publikováno v:
Clinical Nephrology. 91:386-388
Autor:
Sian Ellard, Rhian L Clissold, Detlef Bockenhauer, Shazia Adalat, Wesley Hayes, William Bryant, Sandra Subtil, John Booth, Adrian S. Woolf, Kevin Colclough, Robert Kleta
Publikováno v:
Kidney International Reports
Kidney International Reports, Vol 4, Iss 9, Pp 1304-1311 (2019)
Adalat, S, Hayes, W, Bryant, W A, Booth, J, Woolf, A S, Kleta, R, Subtil, S, Clissold, R, Colclough, K, Ellard, S & Bockenhauer, D 2019, ' HNF1B mutations are associated with a Gitelman-like tubulopathy that develops during childhood ', Kidney International Reports . https://doi.org/10.1016/j.ekir.2019.05.019
Kidney International Reports, Vol 4, Iss 9, Pp 1304-1311 (2019)
Adalat, S, Hayes, W, Bryant, W A, Booth, J, Woolf, A S, Kleta, R, Subtil, S, Clissold, R, Colclough, K, Ellard, S & Bockenhauer, D 2019, ' HNF1B mutations are associated with a Gitelman-like tubulopathy that develops during childhood ', Kidney International Reports . https://doi.org/10.1016/j.ekir.2019.05.019
Background: Mutations in the transcription factor hepatocyte nuclear factor 1B (HNF1B) are the most common inherited cause of renal malformations, yet also associated with renal tubular dysfunction, most prominently magnesium wasting with hypomagnese
Autor:
Fergus Caskey, Alexander J Hamilton, Carol Inward, Yoav Ben-Shlomo, Rhian L Clissold, Amanda Owen-Smith, Phillippa K Bailey
Publikováno v:
Bailey, P, Hamilton, A, Clissold, R L, Inward, C D, Caskey, F, Ben-Shlomo, Y & Owen-Smith, A 2018, ' Young Adults’ Perspectives on Living with Kidney Failure : a Systematic Review and Thematic Synthesis of Qualitative Studies ', BMJ Open, vol. 8, no. 1, e019926 . https://doi.org/10.1136/bmjopen-2017-019926
BMJ Open
BMJ Open
IntroductionYoung adults fare worse than younger adolescents or older adults on a broad range of health indicators. Those with a chronic illness such as renal failure are a particularly vulnerable group, who experience poor outcomes compared with bot
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa217966a1e5e7b77850b8c5de34a28e
https://research-information.bris.ac.uk/en/publications/c8d5e92f-dc8a-4bdd-834d-baf55acac5cb
https://research-information.bris.ac.uk/en/publications/c8d5e92f-dc8a-4bdd-834d-baf55acac5cb
Publikováno v:
Diabetes care. 41(1)
Autor:
George P. Yanev, Fuzhe Ma, Ninfa N. Perez, Frank M. van der Sande, Manuela Antocicco, Coralie Bingham, Juliana Da Silva Abreu, Jeroen P. Kooman, Zhong-Gao Xu, Gilda Pepe, Kamyar Kalantar-Zadeh, Luigi Tazza, Mei-yan Wu, Franklin W. Maddux, Wei Ling Lau, Beverley M. Shields, Wanning Wang, Li-ning Miao, Natascha J. H. Broers, Jason R. Stubbs, Maurizio Bossola, Nosratola D. Vaziri, Qiao-yan Guo, Eduardo Lacson, Rhian L Clissold, James B. Wetmore, Len A. Usvyat, Peter Kotanko, Yuan-yuan Zhang, Chong-sen Zang, Enrico Di Stasio, Tao Sun, Sian Ellard, Roberto Mangoo-Karim, Andrew T. Hattersley, Druckerei Stückle, Loredana Panico
Publikováno v:
Nephron. 130:77-91
Publikováno v:
Nature Reviews Nephrology. 11:102-112
Heterozygous mutations in the gene that encodes the transcription factor hepatocyte nuclear factor 1β (HNF1B) represent the most common known monogenic cause of developmental kidney disease. Renal cysts are the most frequently detected feature of HN