Results 21 to 30 of about 4,269 (127)

A novel mutation causing nephronophthisis in the Lewis polycystic kidney rat localises to a conserved RCC1 domain in Nek8

, 2012
Background Nephronophthisis (NPHP) as a cause of cystic kidney disease is the most common genetic cause of progressive renal failure in children and young adults.
Morahan, G., Mathew I Bellgard, Roberto A Barrero, Morahan, G, McCooke, J.K., Bellgard, MI, Jacqueline K Phillips, Ding, A., John K McCooke, Appels, R, Grant Morahan, Phillips, J.K., Justyna E Ozimek-Kulik, Phillips, JK, Bellgard, M.I., Barrero, RA, McCooke, JK, Appels, R., Barrero, R.A., Ozimek-Kulik, J.E., Rudi Appels, Alice Ding, Ozimek-Kulik, JE, Ding, A   +23 more
core   +1 more source

Cross Sectional Study of Prenatal Diagnosis Uptake Among Individuals With Genetic Conditions

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Prenatal diagnostic genetic testing allows for early identification of significant fetal conditions and enables informed decision‐making regarding management options. The aim of this study was to assess prenatal testing practice among individuals with genetic conditions.
Ebunoluwa Ojo, Roni Zemet, Allyson Nevins, Katherine Abraham, April D. Adams   +4 more
wiley   +1 more source

Kidney Function and Plasma Copeptin Levels in Healthy Kidney Donors and Autosomal Dominant Polycystic Kidney Disease Patients [PDF]

, 2014
Background and objectives Plasma copeptin, a marker of arginine vasopressin, is elevated in patients with autosomal dominant polycystic kidney disease and predicts disease progression.
Else van den Berg, Debbie Zittema, Meijer, Esther, Bakker, Stephan J. L., Franssen, Casper F. M., Franssen, Casper F. M.; id_orcid, Casper F.M. Franssen, Gerjan Navis, Muller Kobold, Anneke C. ; id_orcid, Paul E. de Jong, Stephan J.L. Bakker, Navis, Gerjan, van den Berg, Else, de Jong, Paul E., Esther Meijer, Zittema, Debbie, Bakker, Stephan J. L.; id_orcid, Boertien, Wendy E., Wendy E. Boertien, Anneke C. Muller Kobold, Ron T. Gansevoort, Gansevoort, Ron T., Muller Kobold, Anneke C.   +22 more
core   +1 more source

Compartmentalisation in cAMP signalling: A phase separation perspective

British Journal of Pharmacology, EarlyView.
Cells rely on precise spatiotemporal control of signalling pathways to ensure functional specificity. The compartmentalisation of cyclic AMP (cAMP) and protein kinase A (PKA) signalling enables distinct cellular responses within a crowded cytoplasmic space.
Milda Folkmanaite, Manuela Zaccolo
wiley   +1 more source

KHA-CARI guideline recommendations for the diagnosis and management of autosomal dominant polycystic kidney disease [PDF]

, 2016
This guideline addresses issues relevant to the diagnosis, management and extra-renal complications of autosomal-dominant polycystic kidney disease (ADPKD). Also included in this summary is a screening algorithm for ADPKD in at-risk individuals (Fig.
Tong, Allison, Alexander, Stephen I, Tchan, Michel C, Mai, Jun, Savige, Judy, Dexter, Mark A J, Patel, Chirag, Patel, Manish, Rangan, Gopala K., Lee, Vincent W., Campbell, Katrina L., Lee, Vincent W, Campbell, Katrina L, Alexander, Stephen I., Dexter, Mark A. J., Tchan, Michel C., Rangan, Gopala K, Tunnicliffe, David J, Lopez-Vargas, Pamela, Vladica, Philip, Dexter, Mark AJ, Mallett, Andrew, Tunnicliffe, David J.   +22 more
core   +1 more source

Identification of drug repurposing candidates for the treatment of polycystic kidney disease

British Journal of Pharmacology, EarlyView.
Background and Purpose Autosomal dominant polycystic kidney disease (ADPKD) is a leading cause of end‐stage renal disease with limited treatment options. Drug repurposing offers a promising strategy to find effective treatments. Experimental Approach We identified birinapant, bardoxolone methyl and salicylic acid as repurposing candidates for ADPKD and
Alina Meyer, Paraskevi Sotiropoulou, Koussai Bouker, Dennis Svedberg, Rebekkah Hammar, Hester Bange, Per Larsson, André Mateus, Daniel R. Dietrich, Per Artursson   +9 more
wiley   +1 more source

Rapidly Progressive Glomerulonephritis in Autosomal Dominant Polycystic Kidney Disease

, 2015
Patients with autosomal dominant polycystic kidney disease (ADPKD) can suffer from the same causes of acute kidney injury as the general population. Affected individuals may present with hematuria and proteinuria (usually less than 1g/day).

core   +1 more source

The Pathogenesis of Autosomal Dominant Polycystic Kidney Disease [PDF]

Nephron Experimental Nephrology, 2006
In individuals with autosomal dominant polycystic kidney disease (ADPKD), renal function deteriorates as the kidneys become replaced by multitudes of fluid-filled cysts. Although the PKD genes were identified a decade ago, the pathway(s) leading from mutation to disease remain the subject of intense investigation.
openaire   +2 more sources

Practical recommendations for treating patients with chronic kidney disease in Australia: a multidisciplinary approach

Internal Medicine Journal, EarlyView.
Abstract Background Chronic kidney disease (CKD) is a significant public health challenge in Australia, affecting ~10% of the adult population and contributing to substantial morbidity and mortality. Diabetes, hypertension, cardiovascular disease and CKD frequently co‐exist; therefore, a multidisciplinary approach is necessary to manage these ...
M. P. Schlaich, W. P. Abhayaratna, R. Audehm, E. I. Ekinci, R. J. MacIsaac, A. J. Nelson, A. Sharma, C. Pollock   +7 more
wiley   +1 more source

Caring for Australians and New ZealandeRs with kidney Impairment guideline commentary on kidney disease: improving global outcomes 2025 guidelines for diagnosis and management of autosomal polycystic kidney disease

Internal Medicine Journal, EarlyView.
Abstract Autosomal polycystic kidney disease (ADPKD) is the most common form of inherited kidney disease. The international guideline developer, Kidney Disease: Improving Global Outcomes (KDIGO), published a 2025 clinical practice guideline reflecting advances in genetic testing and the first disease‐modifying agent, tolvaptan.
Mia E. Abdy, Kitty St Pierre, Emily Major, Stephen I. Alexander, Brydee Cashmore, Helen Coolican, Vanessa Cullen, Jessica Dawson, Kelly Lambert, Vincent W. Lee, Amali Mallawaarachi, Gopala Rangan, Judy Savige, Santosh Varughese, David J. Tunnicliffe, Andrew J. Mallett, on behalf of the CARI Guidelines Steering Committee, Emily See, Leanne Brown, Jonathan Craig, Jeffrey Ha, Rathika Krishnasamy, Casey Light, Emmy O'Neill, Thu Nguyen, Hannah Smith, Andrea Viecelli   +26 more
wiley   +1 more source