Results 101 to 110 of about 46,029 (270)

Distinct roles of transcription factors EGL-46 and DAF-19 in specifying the functionality of a polycystin-expressing sensory neuron necessary for C. elegans male vulva location behavior [PDF]

, 2003
Caenorhabditis elegans polycystins LOV-1 and PKD-2 are expressed in the male-specific HOB neuron, and are necessary for sensation of the hermaphrodite vulva during mating. We demonstrate that male vulva location behavior and expression of lov-1 and pkd-2
Bürglin, Thomas R., Prétôt, René F., Sternberg, Paul W., Yu, Hui   +3 more
core   +1 more source

Use of Biomarkers in Drug Development for Regulatory Purposes

Clinical and Translational Science, Volume 18, Issue 10, October 2025.
ABSTRACT Appropriately validated biomarkers are important tools that can benefit drug development and regulatory assessments. For drug development purposes, biomarker development involves identifying a drug development need and context of use (COU) for the biomarker, analytically validating assays, clinically validating the biomarker for the COU, and ...
Robert N. Schuck, Vanitha Sekar
wiley   +1 more source

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  

International consensus statement on the diagnosis and management of autosomal dominant polycystic kidney disease in children and young people

Nature Reviews Nephrology, 2019
These recommendations were systematically developed on behalf of the Network for Early Onset Cystic Kidney Disease (NEOCYST) by an international group of experts in autosomal dominant polycystic kidney disease (ADPKD) from paediatric and adult nephrology,
C. Gimpel, C. Bergmann, D. Bockenhauer, L. Breysem, M. Cadnapaphornchai, M. Cetiner, J. Dudley, F. Emma, M. Konrad, T. Harris, P. Harris, J. König, M. Liebau, M. Marlais, D. Mekahli, A. M. Metcalfe, J. Oh, R. Perrone, M. Sinha, A. Titieni, R. Torra, S. Weber, P. Winyard, F. Schaefer   +23 more
semanticscholar   +1 more source

Prevalence of autosomal dominant polycystic kidney disease in the European Union

Nephrology, Dialysis and Transplantation, 2016
Background Autosomal dominant polycystic kidney disease (ADPKD) is a leading cause of end-stage renal disease, but estimates of its prevalence vary by >10-fold.
C. Willey, J. Blais, A. Hall, H. Krasa, A. J. Makin, F. Czerwiec   +5 more
semanticscholar   +1 more source

The fate of bone marrow-derived cells carrying a polycystic kidney disease mutation in the genetically normal kidney [PDF]

, 2012
Polycystic Kidney Disease (PKD) is a genetic condition in which dedifferentiated and highly proliferative epithelial cells form renal cysts and is frequently treated by renal transplantation.
Bertram, John, Deane, James, Johnson, Chad, Ricardo, Sharon D, Verghese, Elizabeth   +4 more
core   +1 more source

Activation of PIEZO1 Attenuates Kidney Cystogenesis In Vitro and Ex Vivo

Kidney360
Key Points. PIEZO1 activation reduces cystogenesis: Yoda1 activates PIEZO1, raising calcium and lowering cAMP, reducing cyst growth in autosomal dominant polycystic kidney disease models.
Qingfeng Fan, Mohamad Hadla, Zack Peterson, Grace Nelson, Hong Ye, Xiaofang Wang, Jean Marc Mardirossian, Peter C. Harris, Seth L. Alper, Y.S. Prakash, Arthur Beyder, Vicente E. Torres, Fouad T. Chebib   +12 more
doaj   +1 more source

The Longitudinal Study of Liver Cysts in Patients With Autosomal Dominant Polycystic Kidney Disease and Polycystic Liver Disease

Kidney International Reports, 2017
Although polycystic liver disease (PCLD) is one of the extrarenal complications in patients with autosomal dominant polycystic kidney disease (ADPKD), longitudinal changes and the association with total liver volume (TLV) have not been clearly elucidated
Ryo Matsuura, Kenjiro Honda, Yoshifumi Hamasaki, Kent Doi, Eisei Noiri, Masaomi Nangaku   +5 more
doaj   +1 more source

PKD1 Duplicated regions limit clinical Utility of Whole Exome Sequencing for Genetic Diagnosis of Autosomal Dominant Polycystic Kidney Disease

Scientific Reports, 2019
Autosomal dominant polycystic kidney disease (ADPKD) is an inherited monogenic renal disease characterised by the accumulation of clusters of fluid-filled cysts in the kidneys and is caused by mutations in PKD1 or PKD2 genes.
Hamad Ali, F. Al-Mulla, N. Hussain, Medhat Naim, A. Asbeutah, A. Alsahow, Mohamed Abu-Farha, J. Abubaker, Ashraf Al Madhoun, Sajjad Ahmad, P. Harris   +10 more
semanticscholar   +1 more source

Delayed diagnosis of Townes‑Brocks syndrome with multicystic kidneys and renal failure caused by a novel SALL1 nonsense mutation: A case report [PDF]

, 2016
Townes‑Brocks syndrome (TBS) is a rare autosomal dominant congenital anomaly syndrome characterized by the triad of anorectal, hand and external ear malformations. Kidney involvement is less common and may progress to end‑stage renal failure (ESRF) early
Bian, F, Gale, D, Jiang, GR, Lin, FJ, Lu, W, Yao, Y, Zou, R   +6 more
core   +1 more source