Zobrazeno 1 - 10
of 149
pro vyhledávání: '"Patricia D. Wilson"'
Publikováno v:
BBA Advances, Vol 1, Iss , Pp 100013- (2021)
ADPKD is the most common genetic disease of the kidney leading to end-stage renal disease necessitating renal replacement therapy at any time between the 1st and 8th decades of life due to widely variable rates of disease progression. This presents s
Externí odkaz:
https://doaj.org/article/9b0f2d7fd2a145ee9ef3bcd43f6700ae
Autor:
Tess Harris, Hannah R Bridges, Wendy D Brown, Natasha L O’Brien, Ann C Daly, Bharat K Jindal, Gillian S Mundy, Albert Ong, Albert J Power, Richard N Sandford, John Sayer, Roslyn J Simms, Patricia D Wilson, Paul J D Winyard, Maryrose Tarpey
Publikováno v:
Harris, T, Bridges, H R, Brown, W D, O'Brien, N L, Daly, A C, Jindal, B K, Mundy, G S, Ong, A, Power, A J, Sandford, R N, Sayer, J, Simms, R J, Wilson, P D, Winyard, P J D & Tarpey, M 2022, ' Research priorities for autosomal dominant polycystic kidney disease : a UK priority setting partnership ', BMJ Open, vol. 12, no. 6, e055780, pp. e055780 . https://doi.org/10.1136/bmjopen-2021-055780
ObjectivesAutosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney condition, accounting for 7%–10% of patients with kidney failure. Fundamental basic science and clinical research on ADPKD is underway worldwide but
Publikováno v:
BBA Adv
BBA Advances, Vol 1, Iss, Pp 100013-(2021)
BBA Advances, Vol 1, Iss, Pp 100013-(2021)
ADPKD is the most common genetic disease of the kidney leading to end-stage renal disease necessitating renal replacement therapy at any time between the 1(st) and 8(th) decades of life due to widely variable rates of disease progression. This presen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::420ffeae2fa736b5ba5fcf5e60914097
https://europepmc.org/articles/PMC10074914/
https://europepmc.org/articles/PMC10074914/
Autor:
Kavindiya Modarage, Paraskevi Goggolidou, Charlotte H. Dean, Christopher T. Esapa, Patricia D. Wilson, Aidan McCarthy-Boxer, Helen Hilton, Jill T. Norman, Taylor Richards
Publikováno v:
Biochimica et Biophysica Acta. Molecular Basis of Disease
Autosomal Recessive Polycystic Kidney Disease (ARPKD) is a genetic disorder with an incidence of ~1:20,000 that manifests in a wide range of renal and liver disease severity in human patients and can lead to perinatal mortality. ARPKD is caused by mu
Autor:
Patricia D. Wilson
Publikováno v:
Landscape Research. 47:712-714(a)
Autor:
Jonathan Corcoran, Maria Lucia Angelotti, Alexandros Papadimitriou, Remi Piedagnel, Qihe Xu, Joan Li, Donald James Fraser, Mazhar Noor, Paola Romagnani, Bruce M. Hendry, Patricia D. Wilson, Katie L. Raby
Publikováno v:
Scientific Reports
Scientific Reports, Nature Publishing Group, 2020, 10 (1), ⟨10.1038/s41598-020-73099-9⟩
Scientific Reports, 2020, 10 (1), ⟨10.1038/s41598-020-73099-9⟩
Scientific Reports, Vol 10, Iss 1, Pp 1-12 (2020)
Scientific Reports, Nature Publishing Group, 2020, 10 (1), ⟨10.1038/s41598-020-73099-9⟩
Scientific Reports, 2020, 10 (1), ⟨10.1038/s41598-020-73099-9⟩
Scientific Reports, Vol 10, Iss 1, Pp 1-12 (2020)
International audience; Retinoic acid (RA) activates RA receptors (RAR), resulting in RA response element (RARE)-dependent gene expression in renal collecting duct (CD). Emerging evidence supports a protective role for this activity in acute kidney i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c82c59f4d2c022a3abebc1178e20b468
https://hal.sorbonne-universite.fr/hal-02989672/document
https://hal.sorbonne-universite.fr/hal-02989672/document
Autor:
Patricia D. Wilson, Albert C.M. Ong, Foteini Patera, Paul C. Evans, Guillaume M. Hautbergue, Maria Fragiadaki
Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the most common genetic kidney disorder resulting in 10% of patients with renal failure. The molecular events responsible for the relentless growth of cysts are not defined. Thus, identification
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1ed983479c9c4c3ae2f8009b12536c2
https://doi.org/10.1101/2020.03.04.977017
https://doi.org/10.1101/2020.03.04.977017
Autor:
Yuen Fei Wong, Patricia D Wilson, Robert J Unwin, Jill T Norman, Matthew Arno, Bruce M Hendry, Qihe Xu
Publikováno v:
PLoS ONE, Vol 7, Iss 9, p e45725 (2012)
BACKGROUND: Vitamin A is necessary for kidney development and has also been linked to regulation of solute and water homeostasis and to protection against kidney stone disease, infection, inflammation, and scarring. Most functions of vitamin A are me
Externí odkaz:
https://doaj.org/article/f6e850a1fb98496f90d6eee2e7e31819
Publikováno v:
PLoS ONE, Vol 5, Iss 2, p e9239 (2010)
Autosomal dominant polycystic kidney disease (ADPKD) is a commonly inherited renal disorder caused by defects in the PKD1 or PKD2 genes. ADPKD is associated with significant morbidity, and is a major underlying cause of end-stage renal failure (ESRF)
Externí odkaz:
https://doaj.org/article/166a60b9ebd04140b0c9b51f9ef9b909
Autor:
Michael N. Weedon, Jill T. Norman, Monika Mozere, Michael Koettgen, Andrew Parrish, Anne Kesselheim, Naomi Issler, R. Drynda, André W. Brändli, Sofia A. Rahman, Anna Marie Bussell, Mehmet Tekman, Jesús Pozo, Horia Stanescu, Elizabeth Crowne, Elena García-Martínez, Patricia D. Wilson, Detlef Bockenhauer, Craig Jefferies, Oscar Rubio Cabezas, José María Martos, Vaksha Patel, Enriko Klootwijk, Richard Caswell, Montserrat Antón-Gamero, Daniela Iancu, Chris Cheshire, Simona Dumitriu, Hana Lango-Allen, Matthew B. Johnson, Peter B. Jones, Neil J. Sebire, Jesús Argente, Khalid Hussain, Sarah E. Flanagan, Julian P Hamilton-Shield, Celia Pérez-Cerdá, Peter D. Turnpenny, William van’t Hoff, Wesley Hayes, Daan H H M Viering, Lisa M. Guay-Woodford, Wendy Lewis, Alexis Hofherr, Robert Kleta, Sian Ellard
Publikováno v:
Cabezas, O R, Flanagan, S E, Stanescu, H, García-Martínez, E, Caswell, R, Lango-Allen, H, Antón-Gamero, M, Argente, J, Bussell, A M, Brandli, A, Cheshire, C, Crowne, E, Dumitriu, S, Drynda, R, Hamilton-Shield, J P, Hayes, W, Hofherr, A, Iancu, D, Issler, N, Jefferies, C, Jones, P, Johnson, M, Kesselheim, A, Klootwijk, E, Koettgen, M, Lewis, W, Martos, J M, Mozere, M, Norman, J, Patel, V, Parrish, A, Pérez-Cerdá, C, Pozo, J, Rahman, S A, Sebire, N, Tekman, M, Turnpenny, P D, Van'T Hoff, W, Viering, D H H M, Weedon, M N, Wilson, P, Guay-Woodford, L, Kleta, R, Hussain, K, Ellard, S & Bockenhauer, D 2017, ' Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2 ', Journal of the American Society of Nephrology, vol. 28, no. 8, pp. 2529-2539 . https://doi.org/10.1681/ASN.2016121312
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Hyperinsulinemic hypoglycemia (HI) and congenital polycystic kidney disease (PKD) are rare, genetically heterogeneous disorders. The co-occurrence of these disorders (HIPKD) in 17 children from 11 unrelated families suggested an unrecognized genetic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5950ac964fcee8818a8545a3098a42c6
https://europepmc.org/articles/PMC5533241/
https://europepmc.org/articles/PMC5533241/