Université Sorbonne Paris Cité (USPC) - Sciences Exactes et Technologie (SET) & Sciences de la Vie et de la Santé (SVS)
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Liver sinusoidal endothelial cells: Physiology and role in liver diseases

Poisson, Johanne Lemoinne, Sara Chantal Boulanger Durand, François Richard Moreau Valla, Dominique Rautou, Pierre-Emmanuel

Published in Journal of Hepatology

Liver sinusoidal endothelial cells (LSECs) are highly specialized endothelial cells representing the interface between blood cells on the one side and hepatocytes and hepatic stellate cells on the other side. LSECs represent a permeable barrier. Indeed, the association of 'fenestrae', absence of diaphragm and lack of basement membrane make them the...

Hepcidin knockout mice spontaneously develop chronic pancreatitis owing to cytoplasmic iron overload in acinar cells PDF available through Get Fulltext Research

Lunova, Mariia Schwarz, Peggy Nuraldeen, Renwar Levada, Kateryna Kuscuoglu, Deniz Stützle, Michael Vujić Spasić, Maja Haybaeck, Johannes Ruchala, Piotr Jirsa, Milan ...

Published in The Journal of Pathology

Iron is both an essential and a potentially toxic element, and its systemic homeostasis is controlled by the iron hormone hepcidin. Hepcidin binds to the cellular iron exporter ferroportin, causes its degradation, and thereby diminishes iron uptake from the intestine and the release of iron from macrophages. Given that hepcidin-resistant ferroporti...

Mutations in sphingosine-1-phosphase lyase cause nephrosis with ichthyosis and adrenal insufficiency PDF available through Get Fulltext Research

Lovric, Svjetlana Goncalves, Sara Gee, Heon Yung Oskouian, Babak Srinivas, Honnappa Choi, Won-Il Shril, Shirlee Ashraf, Shazia Tan, Weizhen Rao, Jia ...

Published in Journal of Clinical Investigation

Steroid-resistant nephrotic syndrome (SRNS) causes 15% of chronic kidney disease cases. A mutation in 1 of over 40 monogenic genes can be detected in approximately 30% of individuals with SRNS whose symptoms manifest before 25 years of age. However, in many patients, the genetic etiology remains unknown. Here, we have performed whole exome sequenci...

In Vitro Evaluation of the Apoptosis Function in Human Activated T Cells

Magerus-Chatinet, Aude Frédéric Rieux-Laucat

Published in Methods in Molecular Biology

The apoptosis function can be monitored on human lymphocytes by quantifying the induced-death upon apoptotic stimuli involving either the extrinsic or the intrinsic pathway on in vitro activated T cells. Her, we describe an in vitro assay allowing the monitoring of three different apoptosis pathways: (1) the FAS-induced pathway, (2) the activation-...

Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort study. PDF available through Get Fulltext Research

Coulter, Tanya I Chandra, Anita Bacon, Chris M Babar, Judith Curtis, James Screaton, Nick Goodlad, John R Farmer, George Steele, Cathal Laurence Leahy, Timothy Ronan ...

Published in The Journal of allergy and clinical immunology

Activated phosphoinositide 3-kinase δ syndrome (APDS) is a recently described combined immunodeficiency resulting from gain-of-function mutations in PIK3CD, the gene encoding the catalytic subunit of phosphoinositide 3-kinase δ (PI3Kδ). We sought to review the clinical, immunologic, histopathologic, and radiologic features of APDS in a large geneti...

Disease-associated mutations identify a novel region in human STING necessary for the control of type I interferon signa...

Melki, Isabelle Rose, Yoann Uggenti, Carolina Van Eyck, Lien Frémond, Marie-Louise Kitabayashi, Naoki Rice, Gillian I. Jenkinson, Emma M. Boulai, Anaïs Jeremiah, Nadia ...

Published in Journal of Allergy and Clinical Immunology

With regard to the article in the August 2017 issue entitled “Disease-associated mutations identify a novel region in human STING necessary for the control of type I interferon signaling” (J Allergy Clin Immunol 2017;140:543-52), the 12th author Stefano Volpi's name was misspelled as Sefano. He should correctly be listed as Stefano Volpi. The autho...

Osteogenic protein 1 does not stimulate a regenerative effect in cultured human degenerated nucleus pulposus tissue.

van Dijk, Bart G M Esther Potier van Dijk, Maarten Creemers, Laura B Ito, Keita

Published in Journal of Tissue Engineering and Regenerative Medicine

Low back pain is a major cause of disability and is heavily associated with intervertebral disc degeneration. Osteogenic protein 1 (OP-1) is a growth factor that has shown potential to regenerate the intervertebral disc in human cells and animal models. However, high doses are required, presumably due to clearance from the tissue; controlled releas...

Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis PDF available through Get Fulltext Research

Macia, Maxence S. Halbritter, Jan Delous, Marion Bredrup, Cecilie Gutter, Arthur Filhol, Emilie Mellgren, Anne E.C. Leh, Sabine Bizet, Albane Braun, Daniela A. ...

Published in The American Journal of Human Genetics

Nephronophthisis (NPH), an autosomal-recessive tubulointerstitial nephritis, is the most common cause of hereditary end-stage renal disease in the first three decades of life. Since most NPH gene products (NPHP) function at the primary cilium, NPH is classified as a ciliopathy. We identified mutations in a candidate gene in eight individuals from f...

CLUH regulates mitochondrial metabolism by controlling translation and decay of target mRNAs PDF available through Get Fulltext Research

Schatton, Désirée Pla-Martin, David Marx, Marie-Charlotte Hansen, Henriette Mourier, Arnaud Ivan Nemazanyy Pessia, Alberto Zentis, Peter Corona, Teresa Kondylis, Vangelis ...

Published in Journal of Cell Biology

Mitochondria are essential organelles that host crucial metabolic pathways and produce adenosine triphosphate. The mitochondrial proteome is heterogeneous among tissues and can dynamically change in response to different metabolic conditions. Although the transcriptional programs that govern mitochondrial biogenesis and respiratory function are wel...

KIF13B establishes a CAV1-enriched microdomain at the ciliary transition zone to promote Sonic hedgehog signalling PDF available through Get Fulltext Research

Schou, Kenneth B. Mogensen, Johanne B. Morthorst, Stine K. Nielsen, Brian S. Aleliunaite, Aiste Serra-Marques, Andrea Fürstenberg, Nicoline Sophie Saunier Bizet, Albane A. Veland, Iben R. ...

Published in Journal of Antimicrobial Chemotherapy

Ciliary membrane composition is controlled by transition zone (TZ) proteins such as RPGRIP1, RPGRIPL and NPHP4, which are vital for balanced coordination of diverse signalling systems like the Sonic hedgehog (Shh) pathway. Activation of this pathway involves Shh-induced ciliary accumulation of Smoothened (SMO), which is disrupted by disease-causing...

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