Results 71 to 80 of about 16,655 (259)

Characterizing the ADPKD-IFT140 Phenotypic Signature With Deep Learning and Advanced Imaging Biomarkers

Kidney International Reports
Introduction: ADPKD-IFT140 is the third most common disease-causing variant in autosomal dominant polycystic kidney disease (ADPKD) after ADPKD-PKD1 and ADPKD-PKD2.
Ahmad Ghanem, Fadi George Munairdjy Debeh, Abdul Hamid Borghol, Nikola Zagorec, Amanda L. Tapia, Byron Smith, Stefan Paul, Abdul Basit, Bassel AlKhatib, Nay Nader, Marie Therese Bou Antoun, Adriana V. Gregory, Hana Yang, Rachel S. Schauer, Neera K. Dahl, Christian Hanna, Vicente E. Torres, Timothy L. Kline, Peter C. Harris, Emilie Cornec-Le Gall, Fouad T. Chebib   +20 more
doaj   +1 more source

Clinical practice guideline monitoring children and young people with, or at risk of developing autosomal dominant polycystic kidney disease (ADPKD)

BMC Nephrology, 2019
Autosomal Dominant Polycystic Kidney Disease (ADPKD) is thought to affect about 1 in 1000 people in the UK. ADPKD causes a progressive decline in kidney function, with kidney failure tending to occur in middle age.
Jan Dudley, Paul Winyard, Matko Marlais, Oliver Cuthell, Tess Harris, Jiehan Chong, John Sayer, Daniel P. Gale, Lucy Moore, Kay Turner, Sarah Burrows, Richard Sandford   +11 more
doaj   +1 more source

Identification and functional characterization of an N-terminal oligomerization domain for polycystin-2* [PDF]

, 2008
Autosomal dominant polycystic kidney disease (ADPKD), the most common inherited cause of kidney failure, is caused by mutations in either PKD1 (85%) or PKD2 (15%).
Albert C.M. Ong, Andrew J. Streets, Bai, Bai, Brett T. DeChant, Cai, Calvet, Chang-Xi Bai, Chen, Delmas, Gallagher, Genevieve M. Okenka, Gietz, Hanaoka, Inoue, Koulen, Leonidas Tsiokas, Linda J. Newby, Ma, Ma, McGrath, Mochizuki, Montell, Nauli, Newby, Obara, Ong, Ong, Semple, Shuang Feng, Streets, Streets, Suh, Sun, Tomoko Obara, Tsiokas, Tsiokas, Westerfield, Wilson   +38 more
core   +3 more sources

LRP5 variants may contribute to ADPKD [PDF]

European Journal of Human Genetics, 2015
Mutations in Polycystic Kidney Disease proteins (PKD1 or PKD2) are causative for autosomal dominant polycystic kidney disease (ADPKD). However, a small subset of ADPKD probands do not harbor a mutation in any of the known genes. Low density lipoprotein Receptor-related Protein 5 (LRP5) was recently associated with hepatic cystogenesis in isolated ...
Cnossen, W.R., Morsche, R.H.M.T., Hoischen, A., Gilissen, C., Venselaar, H., Mehdi, S., Bergmann, C., Losekoot, M., Breuning, M.H., Peters, D.J.M., Veltman, J.A., Drenth, J.P.H.   +11 more
openaire   +5 more sources

A Longitudinal Case Study of Renal Cyst Progression and Regression in Trisomy 13

Clinical Case Reports, Volume 13, Issue 9, September 2025.
Multiple T2‐weighted high‐signal‐intensity structures were observed in both kidneys accompanied by bilateral renal enlargement in a male neonate with trisomy 13. ABSTRACT Trisomy 13 is a chromosomal disorder frequently associated with congenital anomalies, including polycystic kidney disease (PKD).
Fumiko Yamabe, Takahiro Shindo, Kentaro Haneda, Yoshiyuki Namai, Yutaka Harita   +4 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

#2841 AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE (ADPKD) PATIENT CHARACTERISTICS ASSOCIATED WITH BETTER RESPONSE TO TOLVAPTAN TREATMENT [PDF]

, 2023
Vasiliki Gkika, Eirini Evangelou, Dimitra Gkalitsiou, Paraskevi Liaveri, Michaela Louka, Angelos Drakopoulos, Eirini Tigka, Kyriaki Vasileiou, Mihail Tsagkatakis, George Tsirpanlis   +9 more
openalex   +1 more source

The Role of PEC Progenitors in ADPKD Progression [PDF]

, 2012
BACKGROUND AND OBJECTIVES: Autosomal dominant polycystic kidney disease is a pathology mainly characterized by the progressive development and enlargement of cysts in each kidneys.
CAVAZZINI, FABRIZIO, LIGABUE, Giulia, LODI, DANIELE, LUPO, Valentina   +3 more
core   +2 more sources

Changes in Protein Expression of Renal Drug Transporters and Drug‐Metabolizing Enzymes in Autosomal Dominant Polycystic Kidney Disease Patients

Clinical Pharmacology &Therapeutics, Volume 118, Issue 3, Page 682-692, September 2025.
Autosomal dominant polycystic kidney disease is the most prevalent inherited kidney disease and leads to bilateral kidney enlargement and progressive loss of renal function, often over decades. Comorbidities include hypertension, flank pain, and bacterial infections. The condition often necessitates prolonged multidrug therapy.
Annika C. Tillmann, Dorien J. M. Peters, Amin Rostami‐Hodjegan, Patricia Wilson, Jill Norman, Jill Barber, Zubida M. Al‐Majdoub   +6 more
wiley   +1 more source

Urine microRNA as potential biomarkers of autosomal dominant polycystic kidney disease progression: description of miRNA profiles at baseline. [PDF]

PLoS ONE, 2014
Autosomal dominant polycystic kidney disease (ADPKD) is clinically heterogenic. Biomarkers are needed to predict prognosis and guide management. We aimed to profile microRNA (miRNA) in ADPKD to gain molecular insight and evaluate biomarker potential ...
Iddo Z Ben-Dov, Ying-Cai Tan, Pavel Morozov, Patricia D Wilson, Hanna Rennert, Jon D Blumenfeld, Thomas Tuschl   +6 more
doaj   +1 more source