Publications associées à Distal convoluted tubule

Kidney-Specific Membrane-Bound Serine Proteases CAP1/Prss8 and CAP3/St14 Affect ENaC Subunit Abundances but Not Its Activity

The serine proteases CAP1/Prss8 and CAP3/St14 are identified as ENaC channel-activating proteases in vitro, highly suggesting that they are required for proteolytic activation of ENaC in vivo. The present study tested whether CAP3/St14 is relevant for rena ...

MDPI2023

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

Context-dependent enhancer function revealed by targeted inter-TAD relocation

Denis Duboule, Guillaume Andrey, Lucille Delisle, Christopher Chase Bolt, Aurélie Hintermann

Here the authors show that a strong enhancer sequence can be controlled by the chromatin environment provided by a topologically associated domain (TAD) located nearby. An enhancer relocated by homologous recombination takes all the hallmarks of its new ne ...

Nature Portfolio2022

Tissue Engineering with Mechanically Induced Solid‐Fluid Transitions

Mahmut Selman Sakar, Ece Özelçi, Jaemin Kim, Erik Mailand, Nikolaos Bouklas, Matthias Rüegg, Jon Märki, Odysseas Konstantinos Chaliotis

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

Mesomelic dysplasias associated with the HOXD locus are caused by regulatory reallocations

Denis Duboule, Christopher Chase Bolt, Lucille Delisle

Mesomelic dysplasia, a severe shortening and bending of the limb, has been linked to rearrangements in the HoxD cluster in humans and mice. Here the authors engineer a 1 Mb inversion including the HoxD gene cluster and use this model to provide a mechanist ...

Nature Portfolio2021

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

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

Dmitri Firsov, Hikari Ananda Infinity Yoshihara, Jean-Luc Barras, Nicolas Dattner

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

Impact of genome architecture on the functional activation and repression of Hox regulatory landscapes

Denis Duboule, Lucille Delisle, Edgardo Rodriguez Carballo, Nayuta Yakushiji

Background The spatial organization of the mammalian genome relies upon the formation of chromatin domains of various scales. At the level of gene regulation in cis, collections of enhancer sequences define large regulatory landscapes that usually match wi ...

2019

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

Dmitri Firsov, Vladimir Katanaev

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

Endoluminal nerve modulation device and methods for using thereof

Philippe Renaud, Guillaume Cédric Yves Petitpierre

The invention provides for a device (100) for use in electrical nerve modulation in a subject, characterized in that it comprises a rotational and linear actuator (110); a tubular element (101) having a proximal end connected to the actuator (110) and a di ...

2017