Results 111 to 120 of about 25,511 (203)

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

Defective glycolysis and the use of 2-deoxy-d-glucose in polycystic kidney disease: from animal models to humans [PDF]

, 2017
Autosomal dominant polycystic kidney disease (ADPKD) is an inherited renal disease characterized by bilateral renal cyst formation. ADPKD is one of the most common rare disorders, accounting for ~10% of all patients with end-stage renal disease (ESRD ...
Boletta, Alessandra, Magistroni, Riccardo   +1 more
core   +1 more source

A polycystin-centric view of cyst formation and disease: the polycystins revisited [PDF]

, 2015
It is 20 years since the identification of PKD1, the major gene mutated in autosomal dominant polycystic kidney disease (ADPKD), followed closely by the cloning of PKD2. These major breakthroughs have led in turn to a period of intense investigation into
Harris, P.C., Ong, A.C.M.
core   +2 more sources

TRPP2 and autosomal dominant polycystic kidney disease

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 2007
Mutations in TRPP2 (polycystin-2) cause autosomal dominant polycystic kidney disease (ADPKD), a common genetic disorder characterized by progressive development of fluid-filled cysts in the kidney and other organs. TRPP2 is a Ca(2+)-permeable nonselective cation channel that displays an amazing functional versatility at the cellular level.
openaire   +3 more sources

Autosomal dominant polycystic kidney disease in children [PDF]

Current Opinion in Pediatrics, 2015
Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary renal disease, affecting one in 500 individuals. The cardinal manifestation of ADPKD is progressive cystic dilatation of renal tubules with kidney enlargement and progression to end-stage renal disease in approximately half of cases by 60 years of age.
openaire   +3 more sources

Structural and molecular basis of the assembly of the TRPP2/PKD1 complex [PDF]

, 2009
Mutations in PKD1 and TRPP2 account for nearly all cases of autosomal dominant polycystic kidney disease (ADPKD). These 2 proteins form a receptor/ion channel complex on the cell surface. Using a combination of biochemistry, crystallography, and a single-
Buraei, Z., Chen, X.Z., Isacoff, E.Y., Li, M.H., Ong, A.C.M., Tong, L., Ulbrich, M., Yang, J., Yu, Y.   +8 more
core   +3 more sources

Autosomal dominant polycystic kidney disease

, 2021
Melissa A. Cadnapaphornchai, Djalila Mekahli   +1 more
openaire   +2 more sources

Standardised Outcomes in Nephrology-Polycystic Kidney Disease (SONG-PKD): study protocol for establishing a core outcome set in polycystic kidney disease [PDF]

, 2017
BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD) is the most common potentially life threatening inherited kidney disease and is responsible for 5-10% of cases of end-stage kidney disease (ESKD).
A Caroli, A Chiarotto, A Chiarotto, A Kuper, A Kuper, A Tong, A Tong, A Tong, A Tong, A Tong, A Tong, A Tong, A Tong, A Tong, AL Serra, Albert C. M. Ong, Allison Tong, Angela Ju, Arlene Chapman, Armando Teixeira-Pinto, Australia and New Zealand Dialysis and Transplant Registry, B Blackwood, B Hart, B Sautenet, Benedicte Sautenet, CA Prinsen, CG Iglesias, Curie Ahn, D Bolignano, DA Zarin, DC Miskulin, Dongping Chen, E Higashihara, EM Spithoven, FA Belibi, GM Fick-Brosnahan, Gopala Rangan, Helen Coolican, I Chalmers, Initiative. S, IP Sinha, J Corner, J Jones, J Samuels, Jessica Ryan, JJ Kirkham, JJ Kirkham, JJ Kirkham, JJ Kirkham, JK Aronson, Jonathan C. Craig, Juliana Tze-Wah Kao, K Dwan, Karine E. Manera, KL Lentine, KM Thong, Lorraine A. Hamiwka, M Boers, M Clarke, M Howell, M Jun, M Levy, Martin Howell, N Black, N Evangelidis, N Evangelidis, NIH Definitions Working Group, P Ruggenenti, P Saini, P Velentgas, Peter G. Kerr, PR Williamson, R Urquhart-Secord, RG Fassett, Ron Gansevoort, Ronald Perrone, S Badarudeen, S MacLennan, Talia Gutman, Tess Harris, US Renal Data System, VE Torres, VE Torres, VE Torres, Vicente Torres, Yeoungjee Cho, York Pei   +86 more
core   +5 more sources

Reno-appendiceal fistula in autosomal dominant polycystic kidney disease

Urology Case Reports, 2021
We present a very rare Case of a 53-year-old female with autosomal dominant polycystic kidney disease (ADPKD) who was incidentally found to have a reno-appendiceal fistula while undergoing open bilateral nephrectomy.
Madison S. Hill, Natalia Arias Villela, John C. LaMattina, Yvonne M. Rasko, Michael W. Phelan   +4 more
doaj  

Clinical implementation of a multidisciplinary pipeline for genome sequencing in rare diseases: A prospective, multicenter, observational cohort study

Clinical and Translational Medicine, Volume 15, Issue 7, July 2025.
Soojin Hwang, Go Hun Seo, In Hee Choi, Seung‐Woo Ryue, Ji Young Oh, Yoo‐Mi Kim, Baik‐Lin Eun, Jung Hye Byeon, Eugu Kang, Myungshin Kim, Hoon Seok Kim, Soyoung Lee, Han Wool Kim, Dohyung Kim, Rin Khang, Jihye Kim, Dongseok Moon, Seokhui Jang, Yongjun Song, Gu‐Hwan Kim, Kyoung Bo Kim, Jun Hong Park, Seo Yeon Yang, Yoo Kyoung Choi, Su Min Ji, Oc‐Hee Kim, Mi‐Hyun Park, Hyun‐Young Park, Beom Hee Lee   +28 more
wiley   +1 more source