Results 51 to 60 of about 16,655 (259)

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

Clinical Manifestation, Management and Prognosis of Acute Myocardial Infarction in Autosomal Dominant Polycystic Kidney Disease

Kidney & Blood Pressure Research, 2018
Background/Aims: Cardiovascular complications are the most common cause of death in individuals with autosomal dominant polycystic kidney disease (ADPKD), yet there is no substantial data concerning the clinical characteristics of acute myocardial ...
Bo Yang, Qi Wang, Rui Wang, Tao Xu
doaj   +1 more source

European ADPKD Forum multidisciplinary position statement on autosomal dominant polycystic kidney disease care [PDF]

, 2017
Autosomal dominant polycystic kidney disease (ADPKD) is a chronic, progressive condition characterised by the development and growth of cysts in the kidneys and other organs and by additional systemic manifestations.
Alastair Kent, Albert C M Ong, Brenda de Coninck, Denis Clément, Dorien Peters, Elena Levtchenko, Hendrik Van Poppel, Joost P H Drenth, José Luis Górriz, Klemens Budde, Lorenzo E Derchi, Marianna Eleftheroudi, null null, null null, null null, Olivier Devuyst, Raymond Vanholder, Richard Sandford, Ron T Gansevoort, Tess Harris, Tevfik Ecder, Vicente E Torres, Yves Pirson   +22 more
core   +6 more sources

Diagnostic Yield and Clinical Impact of a Small Genetic Panel for Kidney Disease: A Multicenter, Retrospective European Study

Clinical Genetics, Volume 109, Issue 1, Page 136-140, January 2026.
In a multicenter study of 692 patients with kidney disease, a 44‐gene panel achieved a 36% diagnostic yield. The 36% yield was not significantly lower than with larger panels or whole‐exome sequencing. A post hoc machine‐learning model identified key predictors to stratify patients into four risk bins (11%–74% yield), enabling more cost‐effective ...
Silvia Giovanella, Antonio Miguel Poyatos‐Andújar, Maria Mar Aguila Garcia, Almudena Avila‐Fernandez, Ana Bustamante‐Aragonés, Carmen Ayuso, Antonio Percesepe, Davide Martorana, Maria Ferri, Alessandra Terracciano, Laura Massella, Johanna Chester, Francesca Testa, Giulia Ligabue, Marco Ferrarini, Dino Gibertoni, Gaetano Alfano, Elena Tenedini, Lucia Artuso, Marco Marino, Olga Calabrese, Enrico Tagliafico, Riccardo Magistroni   +22 more
wiley   +1 more source

Rationale and study protocol of ACQUIRE, a prospective, observational study measuring quality of life, treatment preference and treatment satisfaction of autosomal dominant polycystic kidney disease (ADPKD) patients in Europe

BMC Nephrology, 2020
Background Autosomal dominant polycystic kidney disease (ADPKD) is considered the most common inherited renal disease. Patient-Reported Outcomes (PROs) and patient experience in ADPKD are difficult to quantify and have not been well studied, particularly
Dominique Joly, Jennifer Quinn, Stella Mokiou, Karl O’Reilly, Joaquín Sánchez-Covisa, Jing Wang-Silvanto, Helen Doll   +6 more
doaj   +1 more source

Medical Management of Polycystic Liver Disease: A Position Statement From the European Reference Network on Hepatological Diseases

Liver International, Volume 46, Issue 1, January 2026.
ABSTRACT Polycystic liver disease (PLD) is a rare genetic disorder characterised by progressive liver enlargement due to multiple cysts. The main symptoms are liver volume‐related. Although randomised controlled trials have shown that somatostatin analogues (SSAs) reduce liver volume as well as symptoms, specific guidance on when and how to use SSAs in
Sophia Heinrich, Andreia Margarida Carvalho de Matos, Jordi Colmenero, Ahmed M. Elsharkawy, Soňa Fraňková, Jan Halbritter, Anna Mrzljak, Roman‐Ulrich Müller, Rafaela Pereira, Pavel Strnad, Carmen A. J. Teemer, Jef Verbeek, Karolina M. Wronka, Frederik Nevens, Richard Taubert, Joost P. H. Drenth, on behalf of the European Reference Network on Hepatological Liver Diseases (ERN RARE‐LIVER)   +16 more
wiley   +1 more source

End-Stage Kidney Disease in Patients With Autosomal Dominant Polycystic Kidney Disease: A 12-Year Study Based on the Canadian Organ Replacement Registry

Canadian Journal of Kidney Health and Disease, 2018
Background: Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary kidney disease, with afflicted patients often progressing to end-stage kidney disease (ESKD) requiring renal replacement therapy (RRT).
Brandon Budhram, Ayub Akbari, Pierre Brown, Mohan Biyani, Gregory Knoll, Deborah Zimmerman, Cedric Edwards, Brendan McCormick, Ann Bugeja, Manish M. Sood   +9 more
doaj   +1 more source

Update on pathogenesis, management, and treatment of hypertension in autosomal dominant polycystic kidney disease

Saudi Journal of Kidney Diseases and Transplantation, 2017
Hypertension is a common early finding in autosomal dominant polycystic kidney disease (ADPKD). Improvements in screening and diagnosis of ADPKD have allowed earlier diagnosis, later onset of end-stage renal disease, and better survival.
Imed Helal, Fadel Al-Rowaie, Ezzedine Abderrahim, Adel Kheder   +3 more
doaj   +1 more source

Successful Treatment of Posttransplant Refractory Pure Red Cell Aplasia Following Parvovirus B19 Infection

Case Reports in Medicine, Volume 2026, Issue 1, 2026.
Pure red cell aplasia (PRCA), a rare cause of anemia limited to the erythroid lineage, is characterized by normocytic normochromic anemia, severe reticulocytopenia, and markedly reduced or absent erythroid precursors in the bone marrow. We report a 44‐year‐old male with end‐stage renal disease (ESRD) secondary to autosomal dominant polycystic kidney ...
Yousef Ansara, Omar Marouf, Khalil Abualhumos, Mohammed AbuBaha, Hossam Salameh, Huda Saadeddin, Mohammad Al-Sheikh, Semonti Nandi   +7 more
wiley   +1 more source

The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16 [PDF]

, 1994
Autosomal dominant polycystic kidney disease (ADPKD) is a common genetic disorder that frequently results in renal fallure due to progressive cyst development. The major locus, PKD1, maps to 16p13.3.
Breuning, M.H. (Martijn), Brook-Carter, P.T. (Phillip), Buckle, P. (Peter), Cabral, P. (Pedro), Cordeiro, I. (Isabel), Dauwerse, H.G. (Hans), Eussen, H.J.F.M.M. (Bert), Gamble, V. (Vicki), Halley, D.J.J. (Dicky), Harris, P.C. (Peter), Hesseling-Janssen, A.L.W. (Arjenne), Higgs, D. (Douglas), Hughes, J. (Jim), Janssen, L.A.J. (Bart), Kearney, P. (Peter), Lindhout, D. (Dick), MacCarthy, A.B. (Angela), Maheshwar, M.M. (Magitha), Nellist, M.D. (Mark), Ouweland, A.M.W. (Ans) van den, Peral, B. (Belén), Peters, D. (Dorien), Ratcliffe, C., Roelfsema, J.H. (Jeroen), Sampson, J. (Julian), Santos, H. (Heloisa), Saris, J.J. (Jasper), Sloane-Stanley, J. (Jackie), Spruit, L. (Lia), Thomas, S. (Siep), Verhoef, S., Ward, C.J. (Christopher)   +31 more
core   +1 more source