Zobrazeno 1 - 10
of 134
pro vyhledávání: '"Laurence Heidet"'
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, Marie Boisson, Christelle Arrondel, Bruno Estebe, Nicolas Cagnard, Marc Bras, Vincent Morinière, Zaïna Aït Arkoub, Laurence Heidet, Olivier Gribouval, Patrick Nitschké, Corinne Antignac, Géraldine Mollet, Guillaume Dorval
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101032- (2024)
Externí odkaz:
https://doaj.org/article/26b8868ae89d4c9ba46156b379f69499
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:
Giulia Bassanese, Tanja Wlodkowski, Aude Servais, Laurence Heidet, Dario Roccatello, Francesco Emma, Elena Levtchenko, Gema Ariceta, Justine Bacchetta, Giovambattista Capasso, Augustina Jankauskiene, Marius Miglinas, Pietro Manuel Ferraro, Giovanni Montini, Jun Oh, Stephane Decramer, Tanja Kersnik Levart, Jack Wetzels, Elisabeth Cornelissen, Olivier Devuyst, Aleksandra Zurowska, Lars Pape, Anja Buescher, Dieter Haffner, Natasa Marcun Varda, Gian Marco Ghiggeri, Giuseppe Remuzzi, Martin Konrad, Germana Longo, Detlef Bockenhauer, Atif Awan, Ilze Andersone, Jaap W. Groothoff, Franz Schaefer
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-15 (2021)
Abstract Background The European Rare Kidney Disease Reference Network (ERKNet) recently established ERKReg, a Web-based registry for all patients with rare kidney diseases. The main objectives of this core registry are to generate epidemiological in
Externí odkaz:
https://doaj.org/article/298d7b2d56344d9ab3fa1ca68f07142f
Autor:
Nicolas Vinit, Antoine Khoury, Pauline Lopez, Laurence Heidet, Nathalie Botto, Olivier Traxer, Olivia Boyer, Thomas Blanc, Henri B. Lottmann
Publikováno v:
Frontiers in Pediatrics, Vol 9 (2021)
Purpose: Cystinuria is a genetic disorder characterized by a defective reabsorption of cystine and dibasic amino acids leading to development of urinary tract calculi from childhood onward. Cystine lithiasis is known to be resistant to fragmentation.
Externí odkaz:
https://doaj.org/article/57c05c4cbab643ae8f5bb1ef5fc8de8b
Autor:
Roman Klifa, Julie Toubiana, Alizée Michel, Nathalie Biebuyck, Marina Charbit, Laurence Heidet, Saoussen Krid, Pauline Krug, Rémi Salomon, Olivia Boyer
Publikováno v:
BMC Nephrology, Vol 20, Iss 1, Pp 1-7 (2019)
Abstract Background Annual influenza vaccination is recommended for all children with idiopathic nephrotic syndrome (INS) in France. Consequently, the Social Security automatically sends prescriptions to all patients suffering from a chronic disease.
Externí odkaz:
https://doaj.org/article/3746a941d80d4c309740bccc713cd60e
Autor:
Khalil El Karoui, Amandine Viau, Olivier Dellis, Alessia Bagattin, Clément Nguyen, William Baron, Martine Burtin, Mélanie Broueilh, Laurence Heidet, Géraldine Mollet, Anne Druilhe, Corinne Antignac, Bertrand Knebelmann, Gérard Friedlander, Frank Bienaimé, Morgan Gallazzini, Fabiola Terzi
Publikováno v:
Nature Communications, Vol 7, Iss 1, Pp 1-13 (2016)
Proteinuria promotes chronic kidney disease progression. Karoui et al. show that proteinuria stimulates overexpression of iron transporting protein lipocalin-2 via Ca2+release-induced ER stress, which leads to tubular apoptosis, and that inhibition o
Externí odkaz:
https://doaj.org/article/84d6beb4c2bc4aa9bafacf3ebe31468b
Autor:
Marie Dirix, Olivier Gribouval, Christelle Arrondel, Saadia Benjelloun, Olivia Boyer, Marina Charbit, Corinne Antignac, Laurence Heidet, Guillaume Dorval
Publikováno v:
Clinical Genetics. 103:693-698
Autor:
Sara Gómez‐Conde, Olivier Dunand, Aurélie Hummel, Vincent Morinière, Marion Gauthier, Laurent Mesnard, Laurence Heidet
Publikováno v:
Clinical Genetics. 103:114-118
Integrin Subunit Alpha 8 gene (ITGA8) encodes an integrin chain that is known to be critical in the early stage of the kidney development. Bi-allelic pathogenic variants in ITGA8 are associated with bilateral renal agenesis, as well as anomalies invo