Zobrazeno 1 - 10
of 30
pro vyhledávání: '"Karim Harhouri"'
Autor:
Déborah Cardoso, Solenn Guilbert, Philippe Guigue, Aurélie Carabalona, Karim Harhouri, Cécile Peccate, Johana Tournois, Zoheir Guesmia, Lino Ferreira, Catherine Bartoli, Nicolas Levy, Laurence Colleaux, Xavier Nissan, Antoine Muchir
Publikováno v:
Cell Death and Disease, Vol 15, Iss 10, Pp 1-14 (2024)
Abstract Hutchinson-Gilford progeria syndrome (HGPS) is an extremely rare genetic disorder associated with features of accelerated aging. HGPS is an autosomal dominant disease caused by a de novo mutation of LMNA gene, encoding A-type lamins, resulti
Externí odkaz:
https://doaj.org/article/dc9bc6f3476e46378df90ad4de499f20
Autor:
Sahar Elouej, Karim Harhouri, Morgane Le Mao, Genevieve Baujat, Sheela Nampoothiri, Hϋlya Kayserili, Nihal Al Menabawy, Laila Selim, Arianne Llamos Paneque, Christian Kubisch, Davor Lessel, Robert Rubinsztajn, Chayki Charar, Catherine Bartoli, Coraline Airault, Jean-François Deleuze, Agnes Rötig, Peter Bauer, Catarina Pereira, Abigail Loh, Nathalie Escande-Beillard, Antoine Muchir, Lisa Martino, Yosef Gruenbaum, Song-Hua Lee, Philippe Manivet, Guy Lenaers, Bruno Reversade, Nicolas Lévy, Annachiara De Sandre-Giovannoli
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-15 (2020)
Mandibuloacral dysplasias (MADs) are rare progeroid syndromes characterized by nuclear morphological and functional abnormalities. Here the authors report that loss of mitochondrial membrane protein MTX2 causes a progeroid MAD sharing clinical featur
Externí odkaz:
https://doaj.org/article/21379d0d1eab48b298abdd7e9cc58e7d
Autor:
Patricia R. Pitrez, Luís Estronca, Luís Miguel Monteiro, Guillem Colell, Helena Vazão, Deolinda Santinha, Karim Harhouri, Daniel Thornton, Claire Navarro, Anne-Laure Egesipe, Tânia Carvalho, Rodrigo L. Dos Santos, Nicolas Lévy, James C. Smith, João Pedro de Magalhães, Alessandro Ori, Andreia Bernardo, Annachiara De Sandre-Giovannoli, Xavier Nissan, Anna Rosell, Lino Ferreira
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-16 (2020)
Hutchinson-Gilford Progeria Syndrome (HGPS) is a premature aging disease and smooth muscle cells are the most affected cells in HGPS individuals. Here, the authors report a microfluidics platform with HGPS induced pluripotent stem cells and show that
Externí odkaz:
https://doaj.org/article/4ba0b6d9e607460d92755869c0269433
Autor:
Karim Harhouri, Pierre Cau, Frank Casey, Koffi Mawuse Guedenon, Yassamine Doubaj, Lionel Van Maldergem, Gerardo Mejia-Baltodano, Catherine Bartoli, Annachiara De Sandre-Giovannoli, Nicolas Lévy
Publikováno v:
Cells, Vol 11, Iss 4, p 610 (2022)
Progeroid syndromes (PS), including Hutchinson-Gilford Progeria Syndrome (HGPS), are premature and accelerated aging diseases, characterized by clinical features mimicking physiological aging. Most classical HGPS patients carry a de novo point mutati
Externí odkaz:
https://doaj.org/article/5b13b46a4b71430faf1e116cd2bbaac3
Autor:
Karim Harhouri, Claire Navarro, Danielle Depetris, Marie‐Geneviève Mattei, Xavier Nissan, Pierre Cau, Annachiara De Sandre‐Giovannoli, Nicolas Lévy
Publikováno v:
EMBO Molecular Medicine, Vol 9, Iss 9, Pp 1294-1313 (2017)
Abstract Hutchinson–Gilford progeria syndrome (HGPS) is a lethal premature and accelerated aging disease caused by a de novo point mutation in LMNA encoding A‐type lamins. Progerin, a truncated and toxic prelamin A issued from aberrant splicing,
Externí odkaz:
https://doaj.org/article/3dccc1a6bece434b9ffa140170f11a46
Autor:
Sahar Elouej, Karim Harhouri, Morgane Le Mao, Genevieve Baujat, Sheela Nampoothiri, Hϋlya Kayserili, Nihal Al Menabawy, Laila Selim, Arianne Llamos Paneque, Christian Kubisch, Davor Lessel, Robert Rubinsztajn, Chayki Charar, Catherine Bartoli, Coraline Airault, Jean-François Deleuze, Agnes Rötig, Peter Bauer, Catarina Pereira, Abigail Loh, Nathalie Escande-Beillard, Antoine Muchir, Lisa Martino, Yosef Gruenbaum, Song-Hua Lee, Philippe Manivet, Guy Lenaers, Bruno Reversade, Nicolas Lévy, Annachiara De Sandre-Giovannoli
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-1 (2020)
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
Externí odkaz:
https://doaj.org/article/153909fa41324897863611c6fc386797
Autor:
Elise Kaspi, Diane Frankel, Julien Guinde, Sophie Perrin, Sophie Laroumagne, Andrée Robaglia-Schlupp, Kevin Ostacolo, Karim Harhouri, Rachid Tazi-Mezalek, Joelle Micallef, Hervé Dutau, Pascale Tomasini, Annachiara De Sandre-Giovannoli, Nicolas Lévy, Pierre Cau, Philippe Astoul, Patrice Roll
Publikováno v:
PLoS ONE, Vol 12, Iss 8, p e0183136 (2017)
The type V intermediate filament lamins are the principal components of the nuclear matrix, including the nuclear lamina. Lamins are divided into A-type and B-type, which are encoded by three genes, LMNA, LMNB1, and LMNB2. The alternative splicing of
Externí odkaz:
https://doaj.org/article/74b656504dfd40b5abb9c1966b701d0e
Autor:
Karim Harhouri, Claire Navarro, Camille Baquerre, Nathalie Da Silva, Catherine Bartoli, Frank Casey, Guedenon Koffi Mawuse, Yassamine Doubaj, Nicolas Lévy, Annachiara De Sandre-Giovannoli
Publikováno v:
Cells, Vol 5, Iss 3, p 31 (2016)
Progeroid laminopathies, including Hutchinson-Gilford Progeria Syndrome (HGPS, OMIM #176670), are premature and accelerated aging diseases caused by defects in nuclear A-type Lamins. Most HGPS patients carry a de novo point mutation within exon 11 of
Externí odkaz:
https://doaj.org/article/528d9dadacbd4b30b7e1ac3dea03165c
Autor:
Lévy, Karim Harhouri, Pierre Cau, Frank Casey, Koffi Mawuse Guedenon, Yassamine Doubaj, Lionel Van Maldergem, Gerardo Mejia-Baltodano, Catherine Bartoli, Annachiara De Sandre-Giovannoli, Nicolas
Publikováno v:
Cells; Volume 11; Issue 4; Pages: 610
Progeroid syndromes (PS), including Hutchinson-Gilford Progeria Syndrome (HGPS), are premature and accelerated aging diseases, characterized by clinical features mimicking physiological aging. Most classical HGPS patients carry a de novo point mutati
Autor:
De Sandre-Giovannoli A, Karim Harhouri, Nicolas Lévy, Mawuse Gk, Van Maldergem L, Pierre Cau, Casey F, Yassamine Doubaj, Mejia-Baltodano G
Progeroid Syndromes (PS), including Hutchinson-Gilford Progeria Syndrome (HGPS, OMIM #176670), are premature and accelerated aging that clinically resemble some aspects of advancing physiological aging. Most classical HGPS patients carry a de novo po
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f21267cf649bdabeb4f9cf4ee6a92326
https://doi.org/10.1101/2021.04.14.439612
https://doi.org/10.1101/2021.04.14.439612