Zobrazeno 1 - 10
of 112
pro vyhledávání: '"Jacques, Rochette"'
Autor:
Alexis Caulier, Nicolas Jankovsky, Yohann Demont, Hakim Ouled-Haddou, Julien Demagny, Corinne Guitton, Lavinia Merlusca, Delphine Lebon, Pascal Vong, Aurélien Aubry, Agnès Lahary, Christian Rose, Sandrine Gréaume, Emilie Cardon, Jessica Platon, Halima Ouadid-Ahidouch, Jacques Rochette, Jean-Pierre Marolleau, Véronique Picard, Loïc Garçon
Publikováno v:
Haematologica, Vol 105, Iss 3 (2020)
Hereditary xerocytosis is a dominantly inherited red cell membrane disorder caused in most cases by gain-of-function mutations in PIEZO1, encoding a mechanosensitive ion channel that translates a mechanic stimulus into calcium influx. We found that P
Externí odkaz:
https://doaj.org/article/6806504b74624d9894dc56b0db43c8b2
Autor:
Pascal Vong, Kahia Messaoudi, Nicolas Jankovsky, Cathy Gomilla, Yohann Demont, Alexis Caulier, Guillaume Jedraszak, Julien Demagny, Stefan Djordjevic, Thomas Boyer, Jean Pierre Marolleau, Jacques Rochette, Hakim Ouled‐Haddou, Loïc Garçon
Publikováno v:
Journal of cellular and molecular medicineREFERENCES.
Among histone deacetylases, HDAC6 is unusual in its cytoplasmic localization. Its inhibition leads to hyperacetylation of non-histone proteins, inhibiting cell cycle, proliferation and apoptosis. Ricolinostat (ACY-1215) is a selective inhibitor of th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::12a9f8e8f7ed2944372c0b7ca5a42da6
https://pubmed.ncbi.nlm.nih.gov/36578217
https://pubmed.ncbi.nlm.nih.gov/36578217
Autor:
Yohann Demont, Delphine Lebon, Roggiero Lopes Dos Santos, Pascal Vong, Hakim Ouled-Haddou, Nicolas Jankovsky, Julien Demagny, Candice Carola, Jessica Platon, Alexis Caulier, Jacques Rochette, Nicolas Guillaume, Jean-Pierre Marolleau, Kahia Messaoudi, Loïc Garçon
Publikováno v:
Blood Advances
Blood Advances, 2020, 4 (22), pp.5666-5680. ⟨10.1182/bloodadvances.2020003100⟩
Blood Adv
Blood
Blood, 2019, 134 (1), ⟨10.1182/bloodadvances.2020003100⟩
Blood Advances, 2020, 4 (22), pp.5666-5680. ⟨10.1182/bloodadvances.2020003100⟩
Blood Adv
Blood
Blood, 2019, 134 (1), ⟨10.1182/bloodadvances.2020003100⟩
The Gluthation peroxidase (GPX) enzymes are part of the protective system against lipid peroxydation that includes prevention of oxydation and reduction of already oxidized lipid through enzymatic reactions catalyzed by GSH. GPX4 is one of the five G
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ee9e027bb44e427c16bb87718e56352
https://doi.org/10.1182/bloodadvances.2020003100
https://doi.org/10.1182/bloodadvances.2020003100
Autor:
Hsien-Yang Lee, Yong Huang, Nadine Bruneau, Patrice Roll, Elisha D.O. Roberson, Mark Hermann, Emily Quinn, James Maas, Robert Edwards, Tetsuo Ashizawa, Betul Baykan, Kailash Bhatia, Susan Bressman, Michiko K. Bruno, Ewout R. Brunt, Roberto Caraballo, Bernard Echenne, Natalio Fejerman, Steve Frucht, Christina A. Gurnett, Edouard Hirsch, Henry Houlden, Joseph Jankovic, Wei-Ling Lee, David R. Lynch, Shehla Mohammed, Ulrich Müller, Mark P. Nespeca, David Renner, Jacques Rochette, Gabrielle Rudolf, Shinji Saiki, Bing-Wen Soong, Kathryn J. Swoboda, Sam Tucker, Nicholas Wood, Michael Hanna, Anne M. Bowcock, Pierre Szepetowski, Ying-Hui Fu, Louis J. Ptáček
Publikováno v:
Cell Reports, Vol 1, Iss 1, Pp 2-12 (2012)
Paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD/IC) is an episodic movement disorder with autosomal-dominant inheritance and high penetrance, but the causative genetic mutation is unknown. We have now identified four truncating muta
Externí odkaz:
https://doaj.org/article/34f72425695f4e2292e28ed7b26367c7
Autor:
Yohann Demont, Alexis Caulier, Jacques Rochette, Halima Ouadid-Ahidouch, Sandrine Gréaume, Julien Demagny, Corinne Guitton, Hakim Ouled-Haddou, Delphine Lebon, Emilie Cardon, Jean-Pierre Marolleau, Nicolas Jankovsky, Christian Rose, Agnès Lahary, Lavinia Merlusca, Loïc Garçon, Aurélien Aubry, Jessica Platon, Pascal Vong, Véronique Picard
Publikováno v:
Haematologica
Haematologica, 2020, 105 (3), pp.610-622. ⟨10.3324/haematol.2019.218503⟩
Haematologica, 2020, 105 (3), pp.610-622. ⟨10.3324/haematol.2019.218503⟩
International audience; Hereditary xerocytosis is a dominantly inherited red cell membrane disorder caused in most cases by gain-of-function mutations in PIEZO1, encoding a mechanosensitive ion channel that translates a mechanic stimulus into calcium
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b721b13fcf9cc9b62020069b02d40a7
https://doi.org/10.3324/haematol.2019.218503
https://doi.org/10.3324/haematol.2019.218503
Autor:
Hakim Ouled-Haddou, Yohann Demont, Benjamin Brigant, Loïc Garçon, Sylvie Testelin, Valérie Metzinger-Le Meuth, Laurent Metzinger, Jacques Rochette
Publikováno v:
BONE
BONE, Elsevier, 2020, 137, pp.115393-. ⟨10.1016/j.bone.2020.115393⟩
BONE, Elsevier, 2020, 137, pp.115393-. ⟨10.1016/j.bone.2020.115393⟩
Multiple molecular disorders can affect mechanisms regulating proliferation and differentiation of growth plate chondrocytes. Mutations in the TRIM37 gene cause the Mulibrey nanism, a heritable growth disorder. Since chondrocytes are instrumental in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6724306107b2be79282bebd00ea1522
https://pubmed.ncbi.nlm.nih.gov/32353567
https://pubmed.ncbi.nlm.nih.gov/32353567
Autor:
Patricia Aguilar-Martinez, Bernard Grandchamp, Séverine Cunat, Estelle Cadet, François Blanc, Marlène Nourrit, Kaiss Lassoued, Jean-François Schved, Jacques Rochette
Publikováno v:
Haematologica, Vol 96, Iss 4 (2011)
Background Heterozygotes for the p.Cys282Tyr (C282Y) mutation of the HFE gene do not usually express a hemochromatosis phenotype. Apart from the compound heterozygous state for C282Y and the widespread p.His63Asp (H63D) variant allele, other rare HFE
Externí odkaz:
https://doaj.org/article/a60284fbab63424ba4f5ec1dc31e33cd
Autor:
Patrice Roll, Damien Sanlaville, Jennifer Cillario, Audrey Labalme, Nadine Bruneau, Annick Massacrier, Marc Délepine, Philippe Dessen, Vladimir Lazar, Andrée Robaglia-Schlupp, Gaëtan Lesca, Elisabeth Jouve, Gabrielle Rudolf, Jacques Rochette, G Mark Lathrop, Pierre Szepetowski
Publikováno v:
PLoS ONE, Vol 5, Iss 10, p e13750 (2010)
BACKGROUND: Benign infantile convulsions and paroxysmal dyskinesia are episodic cerebral disorders that can share common genetic bases. They can be co-inherited as one single autosomal dominant trait (ICCA syndrome); the disease ICCA gene maps at chr
Externí odkaz:
https://doaj.org/article/1a1a4866687d406094e2e237a8390462
Autor:
Patricia Aguilar-Martinez, Chun Yu Lok, Séverine Cunat, Estelle Cadet, Kathryn Robson, Jacques Rochette
Publikováno v:
Haematologica, Vol 92, Iss 3 (2007)
During a screening program we identified a 5-year old girl with elevated iron parameters. The child was found to have a combination of a novel R176C mutation together with the G320V mutation in the juvenile hemochromatosis gene (HJV). The girl was al
Externí odkaz:
https://doaj.org/article/fdb557459a0342af922d6852ae82c901
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 2, Iss C, p 80 (2015)
Externí odkaz:
https://doaj.org/article/00a1c92fd61749f888c19e46fa3845e3