Zobrazeno 1 - 10
of 288
pro vyhledávání: '"Bertrand, Knebelmann"'
Publikováno v:
BMC Nephrology, Vol 25, Iss 1, Pp 1-5 (2024)
Abstract Background Autosomal dominant polycystic kidney disease (ADPKD) is the most prevalent hereditary kidney disease, characterized by enlarged kidneys with numerous cysts, high blood pressure, and a variety of extrarenal complications. This dise
Externí odkaz:
https://doaj.org/article/1dbed85ed7444ff68722cbbf9cd087f5
Autor:
Thomas Bais, Esther Meijer, Bart J. Kramers, Priya Vart, Marc Vervloet, Mahdi Salih, Bert Bammens, Nathalie Demoulin, Polina Todorova, Roman-Ulrich Müller, Jan Halbritter, Alexander Paliege, Emilie Cornec-Le Gall, Bertrand Knebelmann, Roser Torra, Albert C. M. Ong, Fiona E. Karet Frankl, Ron T. Gansevoort
Publikováno v:
Trials, Vol 25, Iss 1, Pp 1-12 (2024)
Abstract Background Autosomal dominant polycystic kidney disease (ADPKD) leads to progressive renal cyst formation and loss of kidney function in most patients. Vasopressin 2 receptor antagonists (V2RA) like tolvaptan are currently the only available
Externí odkaz:
https://doaj.org/article/8b677e8c18f64fe082d69bef19eb97bf
Autor:
Carole Faviez, Marc Vincent, Nicolas Garcelon, Olivia Boyer, Bertrand Knebelmann, Laurence Heidet, Sophie Saunier, Xiaoyi Chen, Anita Burgun
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-12 (2024)
Abstract Background Rare diseases affect approximately 400 million people worldwide. Many of them suffer from delayed diagnosis. Among them, NPHP1-related renal ciliopathies need to be diagnosed as early as possible as potential treatments have been
Externí odkaz:
https://doaj.org/article/554f62835a944de6bb50e39eb453ba23
Autor:
Hassan Saei, Jessica Kachmar, Vincent Morinière, Laurence Heidet, Olivier Gribouval, Said Lebbah, Frederic Tores, Manon Mautret-Godefroy, Bertrand Knebelmann, Stéphane Burtey, Vincent Vuiblet, Corinne Antignac, Patrick Nitschké, Guillaume Dorval
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101065- (2024)
Externí odkaz:
https://doaj.org/article/64cd0fff408749989d7c0266713703d6
Autor:
Hassan Saei, Vincent Morinière, Laurence Heidet, Olivier Gribouval, Said Lebbah, Frederic Tores, Manon Mautret-Godefroy, Bertrand Knebelmann, Stéphane Burtey, Vincent Vuiblet, Corinne Antignac, Patrick Nitschké, Guillaume Dorval
Publikováno v:
iScience, Vol 26, Iss 7, Pp 107171- (2023)
Summary: The human genome comprises approximately 3% of tandem repeats with variable length (VNTR), a few of which have been linked to human rare diseases. Autosomal dominant tubulointerstitial kidney disease—MUC1 (ADTKD-MUC1) is caused by specific
Externí odkaz:
https://doaj.org/article/82acd8cadcc1476ab800c431abf7e136
Autor:
Camille Cohen, Océane Le Goff, Frédéric Soysouvanh, Florence Vasseur, Marine Tanou, Clément Nguyen, Lucile Amrouche, Julien Le Guen, Oriana Saltel‐Fulero, Tanguy Meunier, Thao Nguyen‐Khoa, Marion Rabant, Dominique Nochy, Christophe Legendre, Gérard Friedlander, Bennett G Childs, Daren J Baker, Bertrand Knebelmann, Dany Anglicheau, Fabien Milliat, Fabiola Terzi
Publikováno v:
EMBO Molecular Medicine, Vol 13, Iss 11, Pp 1-20 (2021)
Abstract The mechanisms underlying the development of glomerular lesions during aging are largely unknown. It has been suggested that senescence might play a role, but the pathophysiological link between senescence and lesion development remains unex
Externí odkaz:
https://doaj.org/article/eff346c772ac4a2782e8d2599fcc5044
Autor:
Ronald D. Perrone, Ali Hariri, Pascal Minini, Curie Ahn, Arlene B. Chapman, Shigeo Horie, Bertrand Knebelmann, Michal Mrug, Albert C.M. Ong, York P.C. Pei, Vicente E. Torres, Vijay Modur, Ronald T. Gansevoort
Publikováno v:
Kidney Medicine, Vol 4, Iss 10, Pp 100538- (2022)
Rationale & Objective: Venglustat, a glucosylceramide synthase inhibitor, inhibits cyst growth and reduces kidney failure in mouse models of autosomal dominant polycystic kidney disease (ADPKD). STAGED-PKD aims to determine the safety and efficacy of
Externí odkaz:
https://doaj.org/article/66ff3b0e6417477da59ccf6a9cdbba1d
Autor:
Carole Faviez, Xiaoyi Chen, Nicolas Garcelon, Antoine Neuraz, Bertrand Knebelmann, Rémi Salomon, Stanislas Lyonnet, Sophie Saunier, Anita Burgun
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-16 (2020)
Abstract Introduction Rare diseases affect approximately 350 million people worldwide. Delayed diagnosis is frequent due to lack of knowledge of most clinicians and a small number of expert centers. Consequently, computerized diagnosis support system
Externí odkaz:
https://doaj.org/article/2a8cf7d9a4a54246aca6c8d4b5c10ff7
Autor:
Jean-Philippe Bertocchio, Sandrine Genetet, Lydie Da Costa, Stephen B. Walsh, Bertrand Knebelmann, Julie Galimand, Lucie Bessenay, Corinne Guitton, Renaud De Lafaille, Rosa Vargas-Poussou, Dominique Eladari, Isabelle Mouro-Chanteloup
Publikováno v:
Kidney International Reports, Vol 5, Iss 3, Pp 348-357 (2020)
Introduction: Anion exchanger 1 (AE1) (SLC4A1 gene product) is a membrane protein expressed in both kidney and red blood cells (RBCs): it exchanges extracellular bicarbonate (HCO3–) for intracellular chloride (Cl–) and participates in acid−base
Externí odkaz:
https://doaj.org/article/79ff7ef222314bfb9509f28ea7aa4c2c
Autor:
Camille Cohen, Séverine Coulon, Kanit Bhukhai, Antoine Neuraz, Michael Dussiot, Guillemette Fouquet, Marie-Bénédicte Le Stang, Martin Flamant, François Vrtovsnik, Aurélie Hummel, Bertrand Knebelmann, Laurent Mesnard, Eric Rondeau, Thiago T. Maciel, Fabrizia Favale, Nicole Casadevall, Thao Nguyen-Khoa, Stéphane Moutereau, Christophe Legendre, Marc Benhamou, Renato C. Monteiro, Olivier Hermine, Khalil El Karoui, Ivan C. Moura
Publikováno v:
EBioMedicine, Vol 75, Iss , Pp 103785- (2022)
Summary: Background: Erythrocytosis is a hematological disorder usually related to hematopoietic stem cell somatic mutations. However, unexplained erythrocytosis remains frequent. In this study, we evaluated the involvement of IgA1, a regulator of er
Externí odkaz:
https://doaj.org/article/736d119de1ba4bb9b49d07811c31cf55