Results 51 to 60 of about 29,990 (207)

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

A novel PKD1 variant demonstrates a disease-modifying role in trans with a truncating PKD1 mutation in patients with Autosomal Dominant Polycystic Kidney Disease [PDF]

, 2015
Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the most common form of Polycystic Kidney Disease (PKD) and occurs at a frequency of 1/800 to 1/1000 affecting all ethnic groups worldwide.
Al-Mulla, Fahd, Ali, Hamad, Harris, Peter, Hussain, Naser, Kehinde, Elijah, Naim, Medhat, Seaburg, Lauren, Sundsbak, Jamie, Zayed, Mohamed   +8 more
core  

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

A Retrospective Cross‐Sectional Study of 142 Patients in a Multidisciplinary Tuberous Sclerosis Clinic

Clinical Genetics, EarlyView.
We found key differences between tuberous sclerosis patients with TSC1 and TSC2 variants. Patients carrying TSC2 variants had more severe and earlier‐onset symptoms. We also identified two distinct clinical subgroups which follow different disease courses: one characterized by predominant renal involvement and the other by more pronounced neurological ...
Hila Weisblum Neuman, Sara Via Dorembus, Omer Shlomovitz, Shoshana Greenberger, Einat Lahav, Sharon Mini‐Goldberger, Michal Tzadok   +6 more
wiley   +1 more source

Empowering women at the heart of autosomal dominant polycystic kidney disease: Addressing unique challenges gender-sensitive approach

Women's Health
Autosomal dominant polycystic kidney disease is a genetic disorder characterized by the progressive development of renal cysts, leading to end-stage renal disease in a significant proportion of affected individuals. While the disease affects both men and
Micaela Petrone, Francesca Tunesi, Martina Catania, Camilla Gerosa, Sara Farinone, Liliana Italia De Rosa, Kristiana Kola, Matteo Brambilla Pisoni, Paola Maiucchi, Paolo Manunta, Giuseppe Vezzoli, Maria Teresa Sciarrone Alibrandi   +11 more
doaj   +1 more source

Renal cysts in children: a single centre study

Pediatria i Medycyna Rodzinna, 2018
Kidney cysts may be congenital (associated or not with genetic disorders) or rarely acquired. They may be an isolated abnormality or be part of an anomaly syndrome.
Anna Medyńska, Konstancja Fornalczyk, Katarzyna Kiliś-Pstrusińska, Irena Wikiera-Magott, Dominik Kubicki, Danuta Zwolińska   +5 more
doaj   +1 more source

Autosomal dominant polycystic kidney disease. [PDF]

Journal of the American Society of Nephrology, 1993
Autosomal dominant polycystic kidney disease (ADPKD) is an important cause of medical morbidity in the United States that affects one-half million persons and accounts for ESRD in about 10% of the chronic dialysis population. In addition to its effects on the kidney, the disease has important manifestations in the cardiovascular system (aneurysms ...
J C, Lieske, F G, Toback
openaire   +2 more sources

Personalized Models of Biological Barriers and Their Diseases: Recent Progress with Organs‐On‐Chips

Advanced Biology, Volume 10, Issue 2, February 2026.
Buck and Bugter et al. explore the architectural diversity and physiological functions of human barrier systems and reveal how organ‐on‐chip platforms, particularly those integrating patient‐derived cells, are advancing barrier disease modeling. They highlight how emerging biological and technological advances can be used to bridge the gap between ...
Franziska Buck, Jeroen Bugter, Gizem Yorukoglu, Mina Kazemzadeh Dastjerd, Thomas E. Winkler   +4 more
wiley   +1 more source

Chinese clinical practice guide for autosomal dominant polycystic kidney disease

Linchuang shenzangbing zazhi, 2019
常染色体显性多囊肾病(autosomal dominant polycystic kidney disease, ADPKD)是最常见的遗传性肾病,患病率为1/400～1/1000[1]。ADPKD主要致病基因有两个,PKD1和PKD2,其突变导致疾病分别约占发病人群的85%和15%[2-3]。该病为常染色体显性遗传病,子代发病机率为50%。患者多在成年后出现双侧肾脏囊肿,随年龄增长,逐渐损害肾脏结构和功能[4 ...
Expert Committee on Clinical Practice Guidelines for Autosomal Dominant Polycystic Kidney Disease
doaj  

Incidental renal cell carcinoma presenting in a renal transplant recipient with autosomal dominant polycystic kidney disease: a case report

Journal of Medical Case Reports, 2012
Introduction We report an instructive case of incidental renal cell carcinoma in a patient with autosomal dominant polycystic kidney disease who underwent simultaneous bilateral native nephrectomy and living donor renal transplantation. Case presentation
Misumi Toshihiro, Ide Kentaro, Onoe Takashi, Banshodani Masataka, Tazawa Hirofumi, Teraoka Yoshifumi, Hotta Ryuichi, Yamashita Masahiro, Tashiro Hirotaka, Ohdan Hideki   +9 more
doaj   +1 more source