Results 41 to 50 of about 2,624,306 (259)

Wall Tension and Tubular Resistance in Kidney Cystic Conditions

Biomedicines, 2023
The progressive formation of single or multiple cysts accompanies several renal diseases. Specifically, (i) genetic forms, such as adult dominant polycystic kidney disease (ADPKD), and (ii) acquired cystic kidney disease (ACKD) are probably the most ...
Michele Della Corte, Davide Viggiano
doaj   +1 more source

Long-Term Experience of a Reference Center on Autosomal Dominant Polycystic Kidney Disease: Associated Demographics, Clinical Presentation, and Kidney Survival in Turkish Population

, 2023
Objective: The autosomal dominant polycystic kidney disease is the most common genetic cause of chronic kidney disease. In this context, it was aimed to investigate the demographical, clinical, and laboratory findings of, and the treatment methods ...
SEYAHİ, NURHAN, ALTIPARMAK, MEHMET RIZA, Mehmet Rıza Altıparmak, Sinan Trabulus, YALIN, Serkan Feyyaz, TRABULUS, SİNAN, Tuba Elif Ozler, Nurhan Seyahi, Ozler, Tuba Elif, Serkan Feyyaz Yalın   +9 more
core   +1 more source

Heat-shock mediated overexpression of HNF1β mutations has differential effects on gene expression in the Xenopus pronephric kidney. [PDF]

, 2012
The transcription factor HNF1B, encoded by the TCF2 gene, plays an important role in the organogenesis of vertebrates. In humans, heterozygous mutations of HNF1B are associated with several diseases, such as pancreatic β-cell dysfunction leading to ...
Sauert, Kathrin, Gull, Mazhar, André W Brändli, Christoph Waldner, Brändli, André W., Mazhar Gull, Roose, Magdalena, Gerhart U. Ryffel (177327), Kathrin Sauert (177290), Kahnert, Stefan, Ryffel, Gerhart U., Waldner, Christoph, Kathrin Sauert, Magdalena Roose, Magdalena Roose (177306), Stefan Kahnert (177298), Gerhart U Ryffel, André W. Brändli (177322), Stefan Kahnert, Christoph Waldner (177333), Mazhar Gull (177314)   +20 more
core   +2 more sources

Safety of Daprodustat for the Treatment of Chronic Kidney Disease Anemia: Final Analysis of a Multicenter Postmarketing Surveillance Study in Japan

Therapeutic Apheresis and Dialysis, EarlyView.
ABSTRACT Introduction This final analysis of a multicenter, prospective postmarketing surveillance study evaluated the safety of daprodustat in patients with chronic kidney disease anemia in routine clinical practice in Japan. Methods Patients who initiated daprodustat between September 2020 and July 2022 were registered.
Tadao Akizawa, Kyomi Kanaya, Kiyomi Aizawa, Masanori Onoki, Hirofumi Ozeki, Kazuko Suzuki, Ai Hayashi, Tomohiko Asamura   +7 more
wiley   +1 more source

Rapidly Progressive Glomerulonephritis in Autosomal Dominant Polycystic Kidney Disease

, 2015
Patients with autosomal dominant polycystic kidney disease (ADPKD) can suffer from the same causes of acute kidney injury as the general population. Affected individuals may present with hematuria and proteinuria (usually less than 1g/day).

core   +1 more source

Ciliary Membrane Lipid Homeostasis in Health and Disease

Advanced Science, EarlyView.
This review systematically delineates the distinct lipid landscapes of ciliary membranes, including the spatial organization of phosphoinositides, cholesterol, and sphingolipids. It elucidates how these lipids orchestrate ciliogenesis, signal transduction, and membrane dynamics in cilia beating, and highlights how their dysregulation drives ...
Zhenzhou Huang, Yuan‐yuan Liu, Hanqi Sun, Peiwei Liu   +3 more
wiley   +1 more source

Genotype–Phenotype Correlations of Monoallelic PFIC Variants in Pediatric Liver Disease: A Multicenter Retrospective Cohort Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Progressive familial intrahepatic cholestasis (PFIC) is classically caused by biallelic pathogenic variants, yet monoallelic variants of uncertain significance (VUS) in PFIC‐associated genes are increasingly identified in children with cholestasis, creating diagnostic uncertainty.
Brett J. Hoskins, Tiziano Pramparo, Chaowapong Jarasvaraparn, Michael J. Wilsey, Voytek Slowik, Lakshmi Kunam, Janis M. Stoll, Ruben E. Quiros‐Tejeira, Simon Lam, Wikrom Karnsakul   +9 more
wiley   +1 more source

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

ADNP‐Related Helsmoortel–Van der Aa Syndrome: A Review of the Literature and Clinical Recommendations for Assessment and Monitoring

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman, Ana Kolevzon, Paige Siper, Tess Levy, Jeffrey M. Saland, Yitzchak Frank, Robert Rapaport, Kayla Kupietzky, William E. Bennett Jr, Bruce Gelb, Sandra Bedrosian Sermone, Alexander Kolevzon   +11 more
wiley   +1 more source

PKD1-associated autosomal dominant polycystic kidney disease with glomerular cysts presenting with nephrotic syndrome caused by focal segmental glomerulosclerosis

BMC Nephrology, 2019
Background Autosomal dominant polycystic kidney disease (ADPKD) may manifest non-nephrotic range proteinuria, but is rarely complicated with nephrotic syndrome.
Yasuhiro Oda, Naoki Sawa, Eiko Hasegawa, Hiroki Mizuno, Masahiro Kawada, Akinari Sekine, Rikako Hiramatsu, Masayuki Yamanouchi, Noriko Hayami, Tatsuya Suwabe, Junichi Hoshino, Kenmei Takaichi, Keiichi Kinowaki, Kenichi Ohashi, Takeshi Fujii, Yoshifumi Ubara   +15 more
doaj   +1 more source