Results 61 to 70 of about 2,905 (217)

Cystin genetic variants cause autosomal recessive polycystic kidney disease associated with altered Myc expression

Scientific Reports, 2021
Mutation of the Cys1 gene underlies the renal cystic disease in the Cys1 cpk/cpk (cpk) mouse that phenocopies human autosomal recessive polycystic kidney disease (ARPKD).
Chaozhe Yang, Naoe Harafuji, Amber K. O’Connor, Robert A. Kesterson, Jacob A. Watts, Amar J. Majmundar, Daniela A. Braun, Monkol Lek, Kristen M. Laricchia, Hanan M. Fathy, Shrikant Mane, Shirlee Shril, Friedhelm Hildebrandt, Lisa M. Guay-Woodford   +13 more
doaj   +1 more source

Salt-deficient diet exacerbates cystogenesis in ARPKD via epithelial sodium channel (ENaC)Research in context

EBioMedicine, 2019
Background: Autosomal Recessive Polycystic Kidney Disease (ARPKD) is marked by cyst formation in the renal tubules, primarily in the collecting duct (CD) system, ultimately leading to end-stage renal disease.
Daria V. Ilatovskaya, Vladislav Levchenko, Tengis S. Pavlov, Elena Isaeva, Christine A. Klemens, Jessica Johnson, Pengyuan Liu, Alison J. Kriegel, Alexander Staruschenko   +8 more
doaj   +1 more source

Characterization of purinergic receptor expression in ARPKD cystic epithelia [PDF]

Purinergic Signalling, 2018
Polycystic kidney diseases (PKDs) are a group of inherited nephropathies marked by formation of fluid-filled cysts along the nephron. Growing evidence suggests that in the kidney formation of cysts and alteration of cystic electrolyte transport are associated with purinergic signaling.
Oleg Palygin, Daria V. Ilatovskaya, Vladislav Levchenko, Christine A. Klemens, Lashodya Dissanayake, Anna Marie Williams, Tengis S. Pavlov, Alexander Staruschenko   +7 more
openaire   +2 more sources

Fetal renal cystic disease and post-natal follow up—a single center experience

Frontiers in Pediatrics, 2023
IntroductionPrenatal sonographic evidence of large, echogenic, or cystic kidneys may indicate any one of a diverse set of disorders including renal ciliopathies, congenital anomalies of the kidney and urinary tract (CAKUT), or multisystem syndromic ...
Lorena Botero-Calderon, Anne Lawrence, Natalie O’Toole, Lisa M. Guay-Woodford, Lisa M. Guay-Woodford   +4 more
doaj   +1 more source

Recent Developments in Capillary and Microchip Electroseparations of Peptides (2023–mid 2025)

ELECTROPHORESIS, Volume 47, Issue 1, Page 106-136, January 2026.
ABSTRACT This review presents a comprehensive overview of the developments and applications of high‐performance capillary and microchip electromigration methods (zone electrophoresis in a free solution or in sieving media, isotachophoresis, isoelectric focusing, affinity electrophoresis, electrokinetic chromatography, and electrochromatography) for ...
Václav Kašička
wiley   +1 more source

An Empirical Biomarker-Based Calculator for Cystic Index in a Model of Autosomal Recessive Polycystic Kidney Disease-The Nieto-Narayan Formula. [PDF]

PLoS ONE, 2016
Autosomal recessive polycystic kidney disease (ARPKD) is associated with progressive enlargement of the kidneys fuelled by the formation and expansion of fluid-filled cysts.
Jake A Nieto, Michael A Yamin, Itzhak D Goldberg, Prakash Narayan   +3 more
doaj   +1 more source

Diagnostic Yield and Clinical Impact of a Small Genetic Panel for Kidney Disease: A Multicenter, Retrospective European Study

Clinical Genetics, Volume 109, Issue 1, Page 136-140, January 2026.
In a multicenter study of 692 patients with kidney disease, a 44‐gene panel achieved a 36% diagnostic yield. The 36% yield was not significantly lower than with larger panels or whole‐exome sequencing. A post hoc machine‐learning model identified key predictors to stratify patients into four risk bins (11%–74% yield), enabling more cost‐effective ...
Silvia Giovanella, Antonio Miguel Poyatos‐Andújar, Maria Mar Aguila Garcia, Almudena Avila‐Fernandez, Ana Bustamante‐Aragonés, Carmen Ayuso, Antonio Percesepe, Davide Martorana, Maria Ferri, Alessandra Terracciano, Laura Massella, Johanna Chester, Francesca Testa, Giulia Ligabue, Marco Ferrarini, Dino Gibertoni, Gaetano Alfano, Elena Tenedini, Lucia Artuso, Marco Marino, Olga Calabrese, Enrico Tagliafico, Riccardo Magistroni   +22 more
wiley   +1 more source

Prenatal MR imaging features of Caroli syndrome in association with autosomal recessive polycystic kidney disease

Radiology Case Reports, 2019
Caroli syndrome, which is characterized by saccular and fusiform dilatation of the biliary ducts, is usually observed in association with autosomal recessive polycystic kidney disease (ARPKD).
Amanda Rivas, Monica Epelman, MD, Enrico Danzer, MD, N. Scott Adzick, MD, Teresa Victoria, MD, PhD   +4 more
doaj   +1 more source

Telmisartan ameliorates fibrocystic liver disease in an orthologous rat model of human autosomal recessive polycystic kidney disease. [PDF]

PLoS ONE, 2013
Human autosomal recessive polycystic kidney disease (ARPKD) produces kidneys which are massively enlarged due to multiple cysts, hypertension, and congenital hepatic fibrosis characterized by dilated bile ducts and portal hypertension.
Daisuke Yoshihara, Masanori Kugita, Mai Sasaki, Shigeo Horie, Koichi Nakanishi, Takaaki Abe, Harold M Aukema, Tamio Yamaguchi, Shizuko Nagao   +8 more
doaj   +1 more source

Diffusion Tensor Imaging (DTI) as a Non‐Invasive Tool for Assessing Pediatric Kidney Transplants: A Feasibility Study

Pediatric Transplantation, Volume 29, Issue 5, August 2025.
Our study demonstrates the feasibility of using diffusion tensor imaging (DTI) to evaluate pediatric kidney transplants. Significant differences in fractional anisotropy (FA) and track length were observed between transplanted and healthy kidneys, reflecting altered microstructural organization.
Suraj D. Serai, Tatiana Morales, Daniel Vossough, Sandra Amaral, Hansel J. Otero, Bernarda Viteri Baquerizo   +5 more
wiley   +1 more source