Results 111 to 120 of about 42,420 (251)

Delayed cystogenesis and increased ciliogenesis associated with the re-expression of polaris in Tg737 mutant mice [PDF]

, 2003
Delayed cystogenesis and increased ciliogenesis associated with the re-expression of polaris inTg737 mutant mice.BackgroundRenal cysts and shortened cilia on renal tubular epithelia have been observed in Tg737orpk (orpk) mutant mice, suggesting a ...
Brown, Nicole E., Murcia, Noel S.
core   +1 more source

The Excess of Carriers in Rare Disorders Suggests a Nonpathogenic Effect for Most Variants of Uncertain Significance

Clinical Genetics, Volume 107, Issue 3, Page 323-327, March 2025.
We compared the reported prevalence of rare recessive diseases obtained from epidemiological data with the population mutational load in their causative genes. If the knowledge of the genetic etiology of the disease is correct, the two estimates should be similar (A).
Stefano Medaglia, Jaume Reig‐Palou, Ariadna Bellés, Nerea Moreno‐Ruiz, Jairo Rodríguez, Xavier Armengol, Juan Ignacio Aróstegui, Lluís Armengol, Juan José Guillén, Hafid Laayouni, Ferran Casals   +10 more
wiley   +1 more source

Adult Renal Cysts: When to Intervene?

Trends in Urology &Men's Health, Volume 16, Issue 1, February 2025.
ABSTRACT Renal cysts are common in the adult population and can be challenging to decide which need intervention or follow‐up. Assessment based on history, examination and cross‐sectional imaging will determine the disposition for patients based on their risk of malignancy and symptoms. The Bosniak Classification is used to stratify risk of malignancy,
Madeleine Bain, Adib Rahman, Nicholas Rukin, Devang Desai   +3 more
wiley   +1 more source

A genomic dominion with regulatory dependencies on human-specific single-nucleotide changes in Modern Humans [PDF]

arXiv, 2019
Gene set enrichment analyses of 8,405 genes linked with 35,074 human-specific (hs) regulatory single-nucleotide changes (SNCs) revealed the staggering breadth of significant associations with morphological structures, physiological processes, and pathological conditions of Modern Humans.
arxiv  

MicroRNA15a modulates expression of the cell-cycle regulator Cdc25A and affects hepatic cystogenesis in a rat model of polycystic kidney disease [PDF]

, 2008
Hyperproliferation of bile duct epithelial cells due to cell-cycle dysregulation is a key feature of cystogenesis in polycystic liver diseases (PCLDs). Recent evidence suggests a regulatory role for microRNAs (miRNAs) in a variety of biological processes,
Banales, J.M. (Jesús M.), LaRusso, N.F. (Nicholas F.), Lee, S.O. (Seung-Ok), Masyuk, A.I. (Anatoly I.), Masyuk, T.V. (Tatyana V.), Splinter, P.L. (Patrick L.), Stroope, A. (Angela)   +6 more
core  

Nephronophthisis: a genetically diverse ciliopathy. [PDF]

, 2011
Nephronophthisis (NPHP) is an autosomal recessive cystic kidney disease and a leading genetic cause of established renal failure (ERF) in children and young adults.
Eley, L., Hynes, A.M., Sayer, J.A., Simms, R.J.   +3 more
core   +4 more sources

A Novel NPHP5 Gene Mutation in Three Siblings With Nephronophthisis Without Retinitis Pigmentosa: A Case Report

Case Reports in Genetics, Volume 2025, Issue 1, 2025.
Nephronophthisis (NPHP) is a hereditary renal disorder characterized by the progression to end‐stage renal disease (ESRD) at a young age. Our understanding of this disorder continues to improve as we identify more genes and gene variants associated with NPHP.
Randah Abdullah Dahlan, Roaa Hani Fairoozy, Balraj Mittal   +2 more
wiley   +1 more source

Respiratory sympathetic modulation is augmented in chronic kidney disease [PDF]

Respiratory Physiology and Neurobiology, Elsevier, In press, 2019
Respiratory modulation of sympathetic nerve activity (respSNA) was studied in a hypertensive rodent model of chronic kidney disease (CKD) using Lewis Polycystic Kidney (LPK) rats and Lewis controls. In adult animals under in vivo anaesthetised conditions (n=8-10/strain), respiratory modulation of splanchnic and renal nerve activity was compared under ...
arxiv  

Inhibition of cyst growth in PCK and Wpk rat models of polycystic kidney disease with low doses of peroxisome proliferator-activated receptor γ agonists [PDF]

, 2016
Background and Objectives The studies were designed to test the efficacy of two peroxisome proliferator-activated receptor γ (PPARγ) agonists in two rodent models of polycystic kidney disease (PKD).
Blazer-Yost, Bonnie L., Flaig, Stephanie M., Gattone, Vincent H.   +2 more
core   +1 more source

Genetics of Autosomal Recessive Polycystic Kidney Disease and Its Differential Diagnoses

Frontiers in Pediatrics, 2018
Autosomal recessive polycystic kidney disease (ARPKD) is a hepatorenal fibrocystic disorder that is characterized by enlarged kidneys with progressive loss of renal function and biliary duct dilatation and congenital hepatic fibrosis that leads to portal
C. Bergmann
semanticscholar   +1 more source