Results 111 to 120 of about 43,436 (236)

Variable phenotype in HNF1B mutations: extrarenal manifestations distinguish affected individuals from the population with congenital anomalies of the kidney and urinary tract [PDF]

, 2019
Background: Mutations in hepatocyte nuclear factor 1B (HNF1B) have been associated with congenital anomalies of the kidney and urinary tract (CAKUT) in humans. Diabetes and other less frequent anomalies have also been described.
Aguayo Calcena, Aníbal, Ariceta, Gema, Castaño González, Luis Antonio, García Castaño, Alejandro, Madariaga Domínguez, Leire, Martínez Salazar, Rosa   +5 more
core   +3 more sources

KIFC1 is Associated With Sarcomatoid Differentiation, Immune Response, and a Poor Prognosis in Clear Cell Renal Cell Carcinoma

Cancer Medicine, Volume 15, Issue 3, March 2026.
ABSTRACT Introduction Centrosome clustering is a cancer‐specific adaptation that allows cells with centrosome amplification to evade mitotic catastrophe and has emerged as a potential therapeutic target. We analyzed the prognostic role of several molecules related to centrosome clustering and found that Kinesin Family Member C1 (KIFC1) was strongly ...
Yoshinori Nakano, Yohei Sekino, Go Kobayashi, Hikaru Nakahara, Shintaro Akabane, Kenshiro Takemoto, Miki Naito, Shunsuke Miyamoto, Kohei Kobatake, Hiroyuki Kitano, Keisuke Goto, Akihiro Goriki, Keisuke Hieda, Takao Hinoi, Nobuyuki Hinata   +14 more
wiley   +1 more source

Prenatal Diagnosis of Renal Anomalies Associated With a Novel Causative Variant in RAP1B Gene

Clinical Case Reports, Volume 14, Issue 3, March 2026.
A case of prenatal renal cystic disease and unilateral renal agenesis is reported. Molecular investigations including TRIO next‐generation sequencing analysis using the Clinical exome sequencing protocol identified the c.179G>T, p.(Gly60Val) “de novo” variant in a heterozygous state in the RAP1B gene.
Adalgisa Cordisco, Stefania Magliulo, Chiara Di Marco, Elisa Fortuna, Alessandra Terracciano, Claudio Meloni   +5 more
wiley   +1 more source

TNF-α blockade is ineffective in animal models of established polycystic kidney disease [PDF]

, 2013
BACKGROUND: Given the large medical burden of polycystic kidney disease (PKD) and recent clinical trial failures, there is a need for novel, safe and effective treatments for the disorder.
Jeffrey Roix, Saurabh Saha
core   +2 more sources

Autosomal dominant polycystic kidney disease: updated perspectives

Therapeutics and Clinical Risk Management, 2019
Anjay Rastogi,1 Khalid Mohammed Ameen,1 Maha Al-Baghdadi,1 Kelly Shaffer,1 Niloofar Nobakht,1 Mohammad Kamgar,1 Edgar V Lerma21Department of Medicine, Division of Nephrology, David Geffen School of Medicine, Los Angeles, CA, USA; 2Department of Medicine,
Rastogi A, Ameen KM, Al-Baghdadi M, Shaffer K, Nobakht N, Kamgar M, Lerma EV   +6 more
doaj  

Genetic linkage study of family members of a patient with adult polycystic kidney disease [PDF]

, 1999
OBJECTIVE. To study the feasibility of making an early diagnosis of adult polycystic kidney disease by using genetic linkage analysis in Hong Kong. DESIGN. Genetic linkage study. SETTING. University teaching hospital, Hong Kong. PARTICIPANTS.
Chan, DTM, Chan, KW, Cheng, IKP, Choo, CK, Yau, CFF   +4 more
core  

Transcriptome analysis reveals manifold mechanisms of cyst development in ADPKD [PDF]

, 2016
BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD) causes progressive loss of renal function in adults as a consequence of the accumulation of cysts. ADPKD is the most common genetic cause of end-stage renal disease. Mutations in polycystin-
Bacallao, Robert L., Boedigheimer, Michael, Clendenon, Sherry G., Damore, Michael, de Almeida, Rita M. C., Glazier, James A., Harris, Peter C., Herbert, Britney-Shea, Richards, William G., Rossetti, Sandro, Wandinger-Ness, Angela, Ward, Heather H., Xu, Wei Min   +12 more
core   +2 more sources

Recommendations for the use of tolvaptan in autosomal dominant polycystic kidney disease: a position statement on behalf of the ERA-EDTA Working Groups on Inherited Kidney Disorders and European Renal Best Practice

Nephrology, Dialysis and Transplantation, 2016
Recently, the European Medicines Agency approved the use of the vasopressin V2 receptor antagonist tolvaptan to slow the progression of cyst development and renal insufficiency of autosomal dominant polycystic kidney disease (ADPKD) in adult patients ...
R. Gansevoort, M. Arıcı, T. Benzing, H. Birn, G. Capasso, A. Covic, O. Devuyst, C. Drechsler, K. Eckardt, F. Emma, B. Knebelmann, Y. Le Meur, Z. Massy, A. Ong, A. Ortiz, F. Schaefer, R. Torra, R. Vanholder, A. Więcek, C. Zoccali, W. van Biesen   +20 more
semanticscholar   +1 more source

Autophagy and Autosomal Dominant Polycystic Kidney Disease

Turkish Journal of Nephrology, 2023
Özgür Akın Oto, Charles L. Edelstein
doaj   +1 more source

Autosomal dominant polycystic kidney disease in children

Saudi Journal of Kidney Diseases and Transplantation, 2016
Autosomal dominant polycystic kidney disease (ADPKD) presenting in adults is well documented, but the presentation in children is uncommon and is unclear why the disease presents early.
Kiran Chandra Patro, R Dilip, S Ramakrishnan   +2 more
doaj