Zobrazeno 1 - 10
of 400
pro vyhledávání: '"A. De Sandre-Giovannoli"'
Autor:
Santinha, Deolinda, Vilaça, Andreia, Estronca, Luís, Schüler, Svenja C., Bartoli, Catherine, De Sandre-Giovannoli, Annachiara, Figueiredo, Arnaldo, Quaas, Maximillian, Pompe, Tilo, Ori, Alessandro, Ferreira, Lino
Publikováno v:
In Molecular & Cellular Proteomics January 2024 23(1)
Autor:
Ader, Flavie, Jedraszak, Guillaume, Janin, Alexandre, Billon, Clarisse, Buisson, Nathalie Roux, Bloch, Adrien, Bensalah, Meriem, De Sandre‐Giovannoli, Anachiara, Goudal, Adeline, Marsili, Luisa, Cazeneuve, Cécile, Charron, Philippe, Millat, Gilles, Richard, Pascale
Publikováno v:
Clinical Genetics; Jun2024, Vol. 105 Issue 6, p676-682, 7p
Akademický článek
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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:
Diane Frankel, Valérie Delecourt, Elva-María Novoa-del-Toro, Jérôme D. Robin, Coraline Airault, Catherine Bartoli, Aurélie Carabalona, Sophie Perrin, Kilian Mazaleyrat, Annachiara De Sandre-Giovannoli, Frederique Magdinier, Anaïs Baudot, Nicolas Lévy, Elise Kaspi, Patrice Roll
Publikováno v:
iScience, Vol 25, Iss 2, Pp 103757- (2022)
Summary: Hutchinson-Gilford progeria syndrome (HGPS) is a rare genetic disorder, in which an abnormal and toxic protein called progerin, accumulates in cell nuclei, leading to major cellular defects. Among them, chromatin remodeling drives gene expre
Externí odkaz:
https://doaj.org/article/1068381b12894a3784d9ad1250954c43
Autor:
Maude Grelet, Véronique Blanck, Sabine Sigaudy, Nicole Philip, Fabienne Giuliano, Khaoula Khachnaoui, Godelieve Morel, Sarah Grotto, Julia Sophie, Céline Poirsier, James Lespinasse, Laurent Alric, Patrick Calvas, Gihane Chalhoub, Valérie Layet, Arnaud Molin, Cindy Colson, Luisa Marsili, Patrick Edery, Nicolas Lévy, Annachiara De Sandre-Giovannoli
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-16 (2019)
Abstract Background Segmental progeroid syndromes are a heterogeneous group of rare and often severe genetic disorders that have been studied since the twentieth century. These progeroid syndromes are defined as segmental because only some of the fea
Externí odkaz:
https://doaj.org/article/5b8ec6fec4c7421196987198b3d889a0
Autor:
Imen Nabouli, Asma Chikhaoui, Houcemeddine Othman, Sahar Elouej, Meriem Jones, Arnaud Lagarde, Meriem Ben Rekaya, Olfa Messaoud, Mohamed Zghal, Valerie Delague, Nicolas Levy, Annachiara De Sandre-Giovannoli, Sonia Abdelhak, Houda Yacoub-Youssef
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Xeroderma Pigmentosum (XP) is a rare genetic disorder affecting the nucleotide excision repair system (NER). It is characterized by an extreme sensitivity to sunlight that induces cutaneous disorders such as severe sunburn, freckling and cancers. In
Externí odkaz:
https://doaj.org/article/11ab2c55985a43ec9f2dd01bbfa4aed3
Autor:
Abir Ben Haj Ali, Olfa Messaoud, Sahar Elouej, Faten Talmoudi, Wiem Ayed, Fethi Mellouli, Monia Ouederni, Sondes Hadiji, Annachiara De Sandre-Giovannoli, Valérie Delague, Nicolas Lévy, Massimo Bogliolo, Jordi Surrallés, Sonia Abdelhak, Ahlem Amouri
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Populations in North Africa (NA) are characterized by a high rate of consanguinity. Consequently, the proportion of founder mutations might be higher than expected and could be a major cause for the high prevalence of recessive genetic disorders like
Externí odkaz:
https://doaj.org/article/bb022a4210ca418a9084d7233c286fe8
Autor:
Etienne Dougy, Dominique Figarella-Branger, Pierre-Emmanuel Morange, Annachiara De Sandre-Giovannoli, Bruno Lacarelle, Karine Bertaux, Karine Pedeillier, Noémie Saut, Carine Jiguet-Jiglaire, Soutsakhone Tong, Karine Achache
Publikováno v:
Open Journal of Bioresources, Vol 7, Iss 1 (2020)
The biobank of the Assistance Publique Hôpitaux de Marseille (AP-HM) works as a multi-site biobank around one Quality Management System. The biobank works on the collection, preparation, storage and release of biological resources and their associat
Externí odkaz:
https://doaj.org/article/34fff7e41f594f41978c567f03f61f63