Zobrazeno 1 - 10
of 16
pro vyhledávání: '"MELANIE PARIS"'
Publikováno v:
Diabetes. 71
People with comorbid end-stage renal disease (ESRD) and diabetes are more prone to poor clinical outcomes including increased mortality and hospitalization, poor treatment compliance and quality of life. Self-management of these coexisting conditions
Autor:
Filippo Consonni, Solange Moreno, Blanca Vinuales Colell, Marie-Claude Stolzenberg, Alicia Fernandes, Mélanie Parisot, Cécile Masson, Nathalie Neveux, Jérémie Rosain, Sarah Bamberger, Marie-Gabrielle Vigue, Marion Malphettes, Pierre Quartier, Capucine Picard, Frédéric Rieux-Laucat, Aude Magerus
Publikováno v:
Cell Death and Disease, Vol 15, Iss 5, Pp 1-8 (2024)
Abstract Autoimmune lymphoproliferative syndrome (ALPS) is a primary disorder of lymphocyte homeostasis, leading to chronic lymphoproliferation, autoimmune cytopenia, and increased risk of lymphoma. The genetic landscape of ALPS includes mutations in
Externí odkaz:
https://doaj.org/article/5165021b955642a8b654e38c4a24da9d
Publikováno v:
Diabetes. 70
Background: Diabetes is the leading cause of chronic kidney disease (CKD) and a major risk factor in the progression of kidney failure or end-stage kidney disease. An estimated 34.2 million Americans have diabetes, and 1 in 3 adults with diabetes may
Autor:
Urooj Fatima, Molly Alawode, Preetha Prithivathi, Morenike Bello, Michael Spigler, Melanie Paris
Publikováno v:
Diabetes. 69
Background: Diabetes is the leading cause of kidney failure. Thirty million Americans have diabetes and 1 in 3 adults with diabetes has chronic kidney disease (CKD). While the Diabetes Self-Management Education and Support (DSMES) curriculum cites CK
Autor:
Laure Delage, Francesco Carbone, Quentin Riller, Jean-Luc Zachayus, Erwan Kerbellec, Armelle Buzy, Marie-Claude Stolzenberg, Marine Luka, Camille de Cevins, Georges Kalouche, Rémi Favier, Alizée Michel, Sonia Meynier, Aurélien Corneau, Caroline Evrard, Nathalie Neveux, Sébastien Roudières, Brieuc P. Pérot, Mathieu Fusaro, Christelle Lenoir, Olivier Pellé, Mélanie Parisot, Marc Bras, Sébastien Héritier, Guy Leverger, Anne-Sophie Korganow, Capucine Picard, Sylvain Latour, Bénédicte Collet, Alain Fischer, Bénédicte Neven, Aude Magérus, Mickaël Ménager, Benoit Pasquier, Frédéric Rieux-Laucat
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-12 (2023)
Abstract Loss of NBEAL2 function leads to grey platelet syndrome (GPS), a bleeding disorder characterized by macro-thrombocytopenia and α-granule-deficient platelets. A proportion of patients with GPS develop autoimmunity through an unknown mechanis
Externí odkaz:
https://doaj.org/article/250dd0cc900246fba884548604a03ce9
Autor:
Meriem Garfa Traoré, Federica Roccio, Caterina Miceli, Giulia Ferri, Mélanie Parisot, Nicolas Cagnard, Marie Lhomme, Nicolas Dupont, Alexandre Benmerah, Sophie Saunier, Marion Delous
Publikováno v:
Frontiers in Molecular Biosciences, Vol 10 (2023)
Renal epithelial cells are subjected to fluid shear stress of urine flow. Several cellular structures act as mechanosensors–the primary cilium, microvilli and cell adhesion complexes–that directly relay signals to the cytoskeleton to regulate var
Externí odkaz:
https://doaj.org/article/f22a50b55f234121b300dae58c2bd438
Autor:
Aude Tessier, Nathalie Roux, Lucile Boutaud, Elodie Lunel, Leila Hakkakian, Mélanie Parisot, Meriem Garfa-Traoré, Amale Ichkou, Nadia Elkhartoufi, Christine Bole, Patrick Nitschke, Jeanne Amiel, Jelena Martinovic, Férechté Encha-Razavi, Tania Attié-Bitach, Sophie Thomas
Publikováno v:
Acta Neuropathologica Communications, Vol 11, Iss 1, Pp 1-11 (2023)
Abstract Congenital hydrocephalus is a common condition caused by the accumulation of cerebrospinal fluid in the ventricular system. Four major genes are currently known to be causally involved in hydrocephalus, either isolated or as a common clinica
Externí odkaz:
https://doaj.org/article/65035ff74ed64b7aa3c473b2f4822c5d
BLNK mutation associated with T-cell LGL leukemia and autoimmune diseases: Case report in hematology
Autor:
Guillemette Fouquet, Julien Rossignol, Laure Ricard, Flavia Guillem, Lucile Couronné, Vahid Asnafi, Manon Vavasseur, Mélanie Parisot, Nicolas Garcelon, Frédéric Rieux-Laucat, Arsène Mekinian, Olivier Hermine
Publikováno v:
Frontiers in Medicine, Vol 9 (2022)
We present the case of a female patient with a heterozygous somatic BLNK mutation, a T-cell LGL (large granular lymphocyte) leukemia, and multiple autoimmune diseases. Although this mutation seems uncommon especially in this kind of clinical observat
Externí odkaz:
https://doaj.org/article/a032ff3d5e0f4fb3a0441b4dd8c92a2a
Autor:
Shengjiang Tan, Laëtitia Kermasson, Christine Hilcenko, Vasileios Kargas, David Traynor, Ahmed Z. Boukerrou, Norberto Escudero-Urquijo, Alexandre Faille, Alexis Bertrand, Maxim Rossmann, Beatriz Goyenechea, Li Jin, Jonathan Moreil, Olivier Alibeu, Blandine Beaupain, Christine Bôle-Feysot, Stefano Fumagalli, Sophie Kaltenbach, Jean-Alain Martignoles, Cécile Masson, Patrick Nitschké, Mélanie Parisot, Aurore Pouliet, Isabelle Radford-Weiss, Frédéric Tores, Jean-Pierre de Villartay, Mohammed Zarhrate, Ai Ling Koh, Kong Boo Phua, Bruno Reversade, Peter J. Bond, Christine Bellanné-Chantelot, Isabelle Callebaut, François Delhommeau, Jean Donadieu, Alan J. Warren, Patrick Revy
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-17 (2021)
Shwachman-Diamond syndrome (SDS) is a leukemia predisposition disorder that is caused by defective release of eIF6 during ribosome assembly. Here the authors show that acquired somatic EIF6 mutations are frequent in the hematopoietic cells from indiv
Externí odkaz:
https://doaj.org/article/a48dd70c00914ebb83beed70d65306d7
Autor:
Rémi Duclaux-Loras, Corinne Lebreton, Jérémy Berthelet, Fabienne Charbit-Henrion, Ophelie Nicolle, Céline Revenu de Courtils, Stephanie Waich, Taras Valovka, Anis Khiat, Marion Rabant, Caroline Racine, Ida Chiara Guerrera, Júlia Baptista, Maxime M. Mahe, Michael W. Hess, Béatrice Durel, Nathalie Lefort, Céline Banal, Mélanie Parisot, Cecile Talbotec, Florence Lacaille, Emmanuelle Ecochard-Dugelay, Arzu Meltem Demir, Georg F. Vogel, Laurence Faivre, Astor Rodrigues, Darren Fowler, Andreas R. Janecke, Thomas Müller, Lukas A. Huber, Fernando Rodrigues-Lima, Frank M. Ruemmele, Holm H. Uhlig, Filippo Del Bene, Grégoire Michaux, Nadine Cerf-Bensussan, Marianna Parlato
Publikováno v:
The Journal of Clinical Investigation, Vol 132, Iss 10 (2022)
Variants in the UNC45A cochaperone have been recently associated with a syndrome combining diarrhea, cholestasis, deafness, and bone fragility. Yet the mechanism underlying intestinal failure in UNC45A deficiency remains unclear. Here, biallelic vari
Externí odkaz:
https://doaj.org/article/6503ecabc11443e384dfca9f5f76d443