Results 31 to 40 of about 4,269 (127)

More Than a Question of Correlation: Characterization of the Evidentiary Basis for Biomarker Surrogates Used in European Marketing Authorizations

Clinical Pharmacology &Therapeutics, Volume 119, Issue 6, Page 1522-1536, June 2026.
Traditionally, clinical outcomes measuring how a patient feels, functions, or survives are preferred endpoints in clinical trials; however, some may take a long time to manifest in slowly developing diseases. Biomarkers, if properly validated, can serve as surrogate endpoints, acting as substitutes for clinical outcomes.
Renske Johanna Grupstra, Viktoriia Starokozhko, Elisabeth Bakker, Anna Maria Gerdina Pasmooij, Peter Gerardus Maria Mol   +4 more
wiley   +1 more source

Counseling patients in the predictive genetics clinic for Huntington's disease: A qualitative analysis of ethnographic observations

Journal of Genetic Counseling, Volume 35, Issue 3, June 2026.
Abstract Little research has been conducted on patients' experiences inside the predictive genetics clinic. In this clinic, a person with a familial risk of inheriting a rare disease seeks a test that will provide them with information about their future health.
Shane Doheny, Rebecca Dimond, Lisa Ballard, Anneke Lucassen, Peter Turnpenny, Angus Clarke   +5 more
wiley   +1 more source

Grayscale ultrasound characteristics of autosomal dominant polycystic kidney disease severity – an adult and pediatric cohort study

, 2017
Introduction: The most common hereditary kidney condition is autosomal dominant polycystic kidney disease. It is the cause of 5–10% of end-stage renal disease.
Marcin Tkaczyk, Podgórski, Michał, Michał Podgórski, Tkaczyk, Marcin, Marcin Strzelczyk, Afshari, Susan, Pawlak-Bratkowska, Monika, Strzelczyk, Marcin, Piotr Grzelak, Grzelak, Piotr, Susan Afshari, Monika Pawlak-Bratkowska   +11 more
core   +1 more source

PKD1 (polycystic kidney disease 1 (autosomal dominant)) [PDF]

, 2012
Review on PKD1 (polycystic kidney disease 1 (autosomal dominant)), with data on DNA, on the protein encoded, and where the gene is ...
Rennert, H, Tan, YC
core   +1 more source

HIF‐Regulated Pannexin‐1 Channel Drives Luminal ATP Accumulation in Kidney Cysts

The FASEB Journal, Volume 40, Issue 10, 31 May 2026.
Autosomal dominant polycystic kidney disease causes progressive cyst enlargement in the kidneys, leading to hypoxia and induction of HIF‐1α. Our study identifies HIF‐1α‐dependent transcriptional upregulation of Pannexin1 (PANX1) in the apical membrane of cyst epithelial cells, promoting ATP release into the cyst lumen.
Kathrin Skoczynski, Julia Katharina Scholz, Raluca Ursu, Johannes Schödel, Steffen Grampp, Stephanie Naas, Victoria Lauer, Mario Schiffer, Maike Büttner‐Herold, Bjoern Buchholz, Andre Kraus   +10 more
wiley   +1 more source

An Unusual Cardiac Manifestation in Autosomal Dominant Polycystic Kidney Disease [PDF]

, 2012
Autosomal dominant polycystic kidney disease is a common hereditary disorder characterized by renal and extrarenal, cystic and noncystic manifestations. Connective tissue defects, including cerebral aneurysm, meningeal diverticula, abdominal wall hernias,
Stefano Pancaldi, EMILIANI, GIULIA, Gaetano Gargiulo, Antonio Santoro, GARGIULO, GAETANO DOMENICO, SANTORO, ANTONIO, Carlo Pace Napoleone, Lucia Barbara De Sanctis, Catapano, F, DE SANCTIS, LUCIA BARBARA, Fausta Catapano, PACE NAPOLEONE, CARLO, Giuseppe Emiliani, PANCALDI, STEFANO   +13 more
core   +1 more source

Polycystin‐1 Controls Cell Cycle Kinetics, Cell Cycle Exit, and Differentiation of Neural Progenitor Cells

The FASEB Journal, Volume 40, Issue 9, 15 May 2026.
Earlier in neurogenesis, knockdown of polycystin‐1 (PC1) expression increases the cell cycle length of neural progenitor cells (NPCs) by extending the S‐phase and probably lengthening the G1‐phase. Subsequently, reduced PC1 expression causes delayed cell cycle exit and delayed neuronal differentiation of NPCs.
Natalie Winokurow, Stefan Schumacher
wiley   +1 more source

Perfil Epidemiológico e clínico de pacientes com doença renal policística do adulto em hospitais de Florianópolis. [PDF]

, 2006
Trabalho de Conclusão de Curso - Universidade Federal de Santa Catarina. Curso de Medicina.
Martins, Gustavo Eduardo Vieira
core  

Autosomal Dominant Polycystic Kidney Disease Induced by Ciliary Defects

, 2015
Autosomal dominant polycystic kidney disease (ADPKD) is a common genetic renal disease, which is caused by pathogenic mutations of either PKD1 (85%) or PKD2 (15%) genes, encoding for polycystin-1 (PC1) or polycystin-2 (PC2), respectively.

core   +1 more source

The Effect of Autosomal Dominant Polycystic Kidney Disease on Spirometric Parameters

, 2020
Aim:There is no enough data on pulmonary involvement in autosomal dominant polycystic kidney disease (ADPKD). The aim of this study is to examine pulmonary function test in patients with ADPKD with varying stages of renal function and to compare them ...
Ozturk, Savaş, Gülfidan Çakmak, Sari, Mustafa, Zeynep Karaali, Mustafa Sarı, Cakmak, Gulfidan, Karandere, Faruk, Doner, Baris, Faruk Karandere, Barış Döner, Savaş Öztürk, GÜRSU, Meltem, Sumnu, Abdullah, Cebeci, Egemen, Meltem Gürsu, Abdullah Şumnu, Ozler, Tuba Elif, Egemen Cebeci, Tuba Elif Özler, Karaali, Zeynep   +19 more
core   +1 more source