The ARPKD Protein DZIP1L Regulates Ciliary Protein Entry by Modulating the Architecture and Function of Ciliary Transition Fibers [PDF]
As a genetic cause of human autosomal recessive polycystic kidney disease (ARPKD), DZIP1L is implicated in the ciliary entry of PKD proteins, yet the underlying mechanism remains elusive. This study unveils an evolutionarily conserved role of DZIP1L in modulating the architecture and function of ciliary transition fibers (TFs), highlighting TFs as a ...
Huicheng Chen+9 more
wiley +2 more sources
Dual mTOR/PI3K inhibition limits PI3K-dependent pathways activated upon mTOR inhibition in autosomal dominant polycystic kidney disease [PDF]
Autosomal dominant polycystic kidney disease (ADPKD) is characterized by the development of kidney cysts leading to kidney failure in adulthood. Inhibition of mammalian target of rapamycin (mTOR) slows polycystic kidney disease (PKD) progression in ...
Arcaro, Alexandre+10 more
core +2 more sources
Clinical aspects of autosomal recessive polycystic kidney disease [PDF]
INTRODUÇÃO: A Doença Renal Policística Autossômica Recessiva (DRPAR) é uma causa importante de morbidade e mortalidade pediátricas, com um espectro variável de manifestações clínicas. MÉTODOS: A apresentação e evolução clínica de 25 pacientes (Pts) foram
DIAS, Natasha Favoretto+3 more
core +2 more sources
Epidermal growth factor receptor tyrosine kinase inhibition is not protective in PCK rats [PDF]
Epidermal growth factor receptor tyrosine kinase inhibition is not protective in PCK rats.BackgroundAdvances in the understanding of cystogenesis, identification of the PKHD1 gene and availability of a rat model (the PCK rat) caused by a Pkhd1 mutation ...
Avner, Ellis D.+6 more
core +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]
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+6 more
core +1 more source
TNF-α blockade is ineffective in animal models of established polycystic kidney disease [PDF]
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
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+5 more
wiley +1 more source
A One Health overview, facilitating advances in comparative medicine and translational research. [PDF]
Table of contentsA1 One health advances and successes in comparative medicine and translational researchCheryl StroudA2 Dendritic cell-targeted gorilla adenoviral vector for cancer vaccination for canine melanomaIgor Dmitriev, Elena Kashentseva, Jeffrey ...
Baron, David A+44 more
core +2 more sources
ABSTRACT Cystic kidney diseases (CyKD) are a diverse group of disorders affecting more than 1 in 1000 individuals. Over 120 genes are implicated, primarily encoding components of the primary cilium, transcription factors, and morphogens. Prognosis varies greatly by molecular diagnosis. Causal variants are not identified in 10%–60% of individuals due to
Deborah Watson+10 more
wiley +1 more source
Aldosterone as a renal growth factor [PDF]
Aldosterone regulates blood pressure through its effects on the cardiovascular system and kidney. Aldosterone can also contribute to the development of hypertension that leads to chronic pathologies such as nephropathy and renal fibrosis.
Dooley, Ruth+2 more
core +1 more source