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Concept

Autosomal dominant polycystic kidney disease

Related publications (19)

New roles of Bicc1 in cilia formation, cell adhesion, and in adult kidneys

Céline Gagnieux

Bicaudal-C1 (Bicc1), an RNA-Binding protein, is a ciliopathy-associated protein. In development, Bicc1 is necessary for left-right axis specification. Loss of Bicc1 in mice also associates with polycystic kidney development. In human, two hereditary polycy ...

EPFL2023

NAD(+) Metabolism and Interventions in Premature Renal Aging and Chronic Kidney Disease

Vincenzo Sorrentino

Premature aging causes morphological and functional changes in the kidney, leading to chronic kidney disease (CKD). CKD is a global public health issue with far-reaching consequences, including cardio-vascular complications, increased frailty, shortened li ...

MDPI2023

Assessment of Stiffness of Large to Small Arteries in Multistage Renal Disease Model: A Numerical Study

Nikolaos Stergiopoulos, Vasiliki Bikia

Arterial stiffness (AS), as assessed via pulse wave velocity (PWV), is a major biomarker for cardiovascular risk assessment in patients with chronic kidney disease (CKD). However, the mechanisms responsible for the changes in PWV in the presence of kidney ...

FRONTIERS MEDIA SA2022

Prospective motion correction in kidney MRI using FID navigators

Tobias Kober

Purpose Abdominal MRI scans may require breath-holding to prevent image quality degradation, which can be challenging for patients, especially children. In this study, we evaluate whether FID navigators can be used to measure and correct for motion prospec ...

WILEY2022

Tissue Engineering with Mechanically Induced Solid‐Fluid Transitions

Mahmut Selman Sakar, Jaemin Kim, Ece Özelçi, Erik Mailand, Nikolaos Bouklas, Matthias Rüegg

Epithelia are contiguous sheets of cells that stabilize the shape of internal organs and support their structure by covering their surfaces. They acquire diverse morphological forms appropriate for their specific functions during embryonic development, suc ...

Wiley2021

Assessment of Aspartate and Bicarbonate Produced From Hyperpolarized [1-13C]Pyruvate as Markers of Renal Gluconeogenesis

Arnaud Comment, Hikari Ananda Infinity Yoshihara

As both a consumer and producer of glucose, the kidney plays a significant role in glucose homeostasis. Measuring renal gluconeogenesis requires invasive techniques, and less invasive methods would allow renal gluconeogenesis to be measured more routinely. ...

2021

Role of the RNA-binding protein Bicaudal-C1 and interacting factors in cystic kidney diseases

Daniel Constam, Benjamin Marcel Daniel Rothé, Lucía Carolina Leal Esteban, Céline Gagnieux

Polycystic kidneys frequently associate with mutations in individual components of cilia, basal bodies or centriolar satellites that perturb complex protein networks. In this review, we focus on the RNA-binding protein Bicaudal-C1 (BICC1) which was found m ...

2020

In vivo detection of d-amino acid oxidase with hyperpolarized d-[1-C-13]alanine

Rolf Gruetter, Hikari Ananda Infinity Yoshihara, Alice Radaelli

d-amino acid oxidase (DAO) is a peroxisomal enzyme that catalyzes the oxidative deamination of several neutral and basic d-amino acids to their corresponding alpha-keto acids. In most mammalian species studied, high DAO activity is found in the kidney, liv ...

2020

Renal tubular arginase-2 participates in the formation of the corticomedullary urea gradient and attenuates kidney damage in ischemia-reperfusion injury in mice

Hikari Ananda Infinity Yoshihara, Dmitri Firsov

Aim Arginase 2 (ARG2) is a mitochondrial enzyme that catalyses hydrolysis ofl-arginine into urea andl-ornithine. In the kidney, ARG2 is localized to the S3 segment of the proximal tubule. It has been shown that expression and activity of this enzyme are up ...

WILEY2020

Early Urinary Biomarkers in Pediatric Autosomal Dominant Polycystic Kidney Disease (ADPKD): No Evidence in the Interest of Urinary Neutrophil Gelatinase-Associated Lipocalin (uNGAL)

Marco Solcà

Background: Autosomal Dominant Polycystic Kidney Disease (ADPKD) is increasingly diagnosed during childhood by the presence of renal cysts in patients with a positive familial history. No curative treatment is available and early detection and diagnosis co ...

2019

Functional analysis of Bicc1 and novel interacting proteins in renal tubule cell metabolism and polycystic kidneys

Lucía Carolina Leal Esteban

Genetic disorders known as ciliopathies develop polycystic kidneys, including autosomal dominant and autosomal recessive polycystic kidney diseases (ADPKD and ARPKD). Several signaling pathways including the cAMP/PKA pathway are implicated in driving cyst ...

EPFL2017

Renal Fanconi Syndrome and Hypophosphatemic Rickets in the Absence of Xenotropic and Polytropic Retroviral Receptor in the Nephron

Dmitri Firsov

Tight control of extracellular and intracellular inorganic phosphate (Pi) levels is critical to most biochemical and physiologic processes. Urinary Pi is freely filtered at the kidney glomerulus and is reabsorbed in the renal tubule by the action of the ap ...

Amer Soc Nephrology2017

Bicaudal C1 promotes pancreatic NEUROG3+ endocrine progenitor differentiation and ductal morphogenesis

Mutations in Bicaudal C1 (BICC1), an RNA binding protein involved in translational regulation, have been associated with cystic kidney disease both in humans and in mice. Since kidney cysts associate with pancreatic defects in several human syndromes, we i ...

EPFL2015

Regulation of the mRNA silencing activity of Bicaudal-C

Florian Urs Bernet

Cilia dysfunction is a common factor underlying left-right axis malformation and the pathogenesis of virtually all known renal cystic diseases. Mutations in the RNA-binding protein Bicaudal-C (Bicc1) provoke cystic kidneys reminiscent of polycystic kidney ...

EPFL2015

Two mutations in human BICC1 resulting in Wnt pathway hyperactivity associated with cystic renal dysplasia

Daniel Constam, Anne Grapin-Botton, Marine Marie Kraus

Bicaudal C homologue 1 (Bicc1) knockout in mice causes polycystic kidney disease and pancreas development defects, including a reduction in insulin-producing β-cells and ensuing diabetes. We therefore screened 137 patients with renal abnormalities or assoc ...

2011

Role of Bicaudal-C in Left-Right Axis Formation and Kidney Morphogenesis

The KH domain RNA binding protein Bicaudal-C is known to play a role in anterior-posterior (AP) patterning in Drosophila by acting on oskar mRNA. In mammals, its expression is induced at late gastrulation in the mesodermal layer of the ventral node. Renal ...

EPFL2010

Wnt Signaling in Pancreas Development and Cancer

Marine Marie Kraus

During early somite stages of development, the broad endoderm-derived foregut and hindgut territories become further subdivided along the antero-posterior axis into organs. One of these organs is the pancreas which serves two major physiological functions: ...

EPFL2010

Bicaudal C, a novel regulator of Dvl signaling abutting RNA-processing bodies, controls cilia orientation and leftward flow

Thomas Alois Weber, Daniel Constam

Polycystic diseases and left-right (LR) axis malformations are frequently linked to cilia defects. Renal cysts also arise in mice and frogs lacking Bicaudal C (BicC), a conserved RNA-binding protein containing K-homology (KH) domains and a sterile alpha mo ...

2009

Neuroprotective gene therapy for Huntington's disease using a polymer encapsulated BHK cell line engineered to secrete human CNTF

Patrick Aebischer, Nicole Déglon, Laurence Winkel

Huntington's disease (HD) is an autosomal dominant genetic disease with devastating clinical effects on cognitive, psychological, and motor functions. These clinical symptoms primarily relate to the progressive loss of medium-spiny GABA-ergic neurons of th ...

2000