Results 91 to 100 of about 15,598 (256)

The Vertebrate Breed Ontology: Toward Effective Breed Data Standardization

Journal of Veterinary Internal Medicine, Volume 39, Issue 4, July/August 2025.
ABSTRACT Background Limited universally‐adopted data standards in veterinary medicine hinder data interoperability and therefore integration and comparison; this ultimately impedes the application of existing information‐based tools to support advancement in diagnostics, treatments, and precision medicine.
Kathleen R. Mullen, Imke Tammen, Nicolas A. Matentzoglu, Marius Mather, James P. Balhoff, Elizabeth Esdaile, Gregoire Leroy, Carissa A. Park, Halie M. Rando, Nadia T. Saklou, Tracy L. Webb, Nicole A. Vasilevsky, Christopher J. Mungall, Melissa A. Haendel, Frank W. Nicholas, Sabrina Toro   +15 more
wiley   +1 more source

Caffeine intake by patients with autosomal dominant polycystic kidney disease [PDF]

, 2012
Because caffeine may induce cyst and kidney enlargement in autosomal dominant polycystic kidney disease (ADPKD), we evaluated caffeine intake and renal volume using renal ultrasound in ADPKD patients.
Baxmann, Alessandra Calábria, Heilberg, Ita Pfeferman, Nishiura, José Luiz, Vendramini, Larissa Collis   +3 more
core   +2 more sources

Ion channel function of polycystin‐2/polycystin‐1 heteromer revealed by structure‐guided mutagenesis

FEBS Letters, Volume 599, Issue 12, Page 1649-1668, June 2025.
Mutations in polycystin‐1 (PC1) or polycystin‐2 (PC2) cause autosomal‐dominant polycystic kidney disease (ADPKD). We generated a novel gain‐of‐function PC2/PC1 heteromeric ion channel by mutating pore‐blocking residues. Moreover, we demonstrated that PC2 will preferentially assemble with PC1 to form heteromeric complexes when PC1 is co‐expressed ...
Tobias Staudner, Juthamas Khamseekaew, M. Gregor Madej, Linda Geiges, Bardha Azemi, Christine Ziegler, Christoph Korbmacher, Alexandr V. Ilyaskin   +7 more
wiley   +1 more source

Autosomal Dominant Polycystic Disease is Associated with Depressed Levels of Soluble Tumor Necrosis Factor-Related Apoptosis-Inducing Ligand

Balkan Medical Journal, 2016
Background: Autosomal dominant polycystic kidney disease (ADPKD) is characterized by multiple, large renal cysts and impaired kidney function. Although the reason for the development of kidney cysts is unknown, ADPKD is associated with cell cycle arrest ...
Funda Sarı, Arzu Didem Yalçın, Gizem Esra Genç, Metin Sarıkaya, Atıl Bisgin, Ramazan Çetinkaya, Saadet Gümüşlü   +6 more
doaj   +1 more source

Elucidating the Molecular Landscape of Cystic Kidney Disease: Old Friends, New Friends and Some Surprises

American Journal of Medical Genetics Part A, Volume 197, Issue 6, June 2025.
ABSTRACT Cystic kidney diseases (CyKD) are a diverse group of disorders affecting more than 1 in 1000 individuals. Over 120 genes are implicated, primarily encoding components of the primary cilium, transcription factors, and morphogens. Prognosis varies greatly by molecular diagnosis. Causal variants are not identified in 10%–60% of individuals due to
Deborah Watson, Frank Mentch, Jonathan Billings, Kayleigh Ostberg, Michael E. March, Jennifer M. Kalish, Dong Li, India Cannon, Lisa M. Guay‐Woodford, Erum Hartung, Alanna Strong   +10 more
wiley   +1 more source

Abdominal Aortic Dissection in a Patient With Autosomal Dominant Polycystic Kidney Disease After Starting Peritoneal Dialysis

Urology Case Reports, 2014
Autosomal dominant polycystic kidney disease (ADPKD), one of the most common genetic disorders, is caused by mutations in the PKD1 or PKD2 gene.
Yingying He, Qin Wang, Meng Zhang, Bo Wang, Zuying Xiong, Qiong Luo, Song Wu   +6 more
doaj   +1 more source

A Case Study of Liver After Kidney Transplantation: Addressing Polycystic Diseases With Tailored Surgical and Postoperative Approaches

Clinical Case Reports, Volume 13, Issue 6, June 2025.
ABSTRACT Polycystic liver disease is a hereditary disease, which is characterized by the presence of multiple cysts within the liver. In this case, we report a patient with multiple cysts in the kidneys and liver, who underwent kidney transplantation in 2019 and then liver transplantation 4 years later.
Chengjun Sun, Yang Du, Ming Han, Shaojun Shi, Linwei Wu   +4 more
wiley   +1 more source

A Rare Diagnosis of Caroli Syndrome in a Young Patient

Clinical Case Reports, Volume 13, Issue 6, June 2025.
ABSTRACT Caroli syndrome is a rare but serious congenital disorder associated with portal hypertension and polycystic kidney disease. Early diagnosis via imaging, particularly MRCP, is crucial to prevent life‐threatening complications such as cholangitis and biliary cirrhosis.
Elaheh Karimzadeh‐Soureshjani, Farab Pourhasan, Pouria Ahmadi Simab, Sajjad Shojaei, Yasaman Mohammadian   +4 more
wiley   +1 more source

Polycystin-2, the protein mutated in autosomal dominant polycystic kidney disease (ADPKD), is a Ca ²⁺ -permeable nonselective cation channel [PDF]

, 2000
Silvia González‐Perrett, Kee‐Tae Kim, Cristina Ibarra, Alicia E. Damiano, Elsa Zotta, Marisa Batelli, Peter C. Harris, I.L. Reisin, M. Amin Arnaout, Horacio F. Cantiello   +9 more
openalex   +2 more sources

Reduction in Heart Rate Variability in Autosomal Dominant Polycystic Kidney Disease

Kidney & Blood Pressure Research, 2019
Introduction: Cardiovascular disease is one of the main causes of morbidity and mortality in patients with autosomal dominant polycystic kidney disease (ADPKD).
Silvia Lai, Marco Mangiulli, Adolfo M. Perrotta, Gianluca Di Lazzaro Giraldi, Massimo Testorio, Edoardo Rosato, Rosario Cianci, Antonietta Gigante   +7 more
doaj   +1 more source