Zobrazeno 1 - 10
of 335
pro vyhledávání: '"Marie-Geneviève Mattei"'
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:
Magali Michaud, Thomas Arnoux, Serena Bielli, Estelle Durand, Yann Rotrou, Sibylle Jablonka, Fabrice Robert, Marc Giraudon-Paoli, Markus Riessland, Marie-Geneviève Mattei, Emile Andriambeloson, Brunhilde Wirth, Michael Sendtner, Jorge Gallego, Rebecca M. Pruss, Thierry Bordet
Publikováno v:
Neurobiology of Disease, Vol 38, Iss 1, Pp 125-135 (2010)
Spinal muscular atrophy (SMA) is caused by insufficient levels of the survival motor neuron (SMN) protein leading to muscle paralysis and respiratory failure. In mouse, introducing the human SMN2 gene partially rescues Smn-/- embryonic lethality. How
Externí odkaz:
https://doaj.org/article/3036b72971154587972567e407e550ca
Autor:
Francesca Rochais, Mathieu Dandonneau, Karim Mesbah, Thérèse Jarry, Marie-Geneviève Mattei, Robert G Kelly
Publikováno v:
PLoS ONE, Vol 4, Iss 7, p e6267 (2009)
Rapid growth of the embryonic heart occurs by addition of progenitor cells of the second heart field to the poles of the elongating heart tube. Failure or perturbation of this process leads to congenital heart defects. In order to provide further ins
Externí odkaz:
https://doaj.org/article/52c12397b2c94294a0b863dac5e0ac35
Autor:
Stéphane Burtey, Marta Riera, Marie Geneviève Mattei, Petra Pennenkamp, Roselyne Rance, Michel Fontes, Bernd Dworniczak, Emilie Ribe, Judith Luciani
Publikováno v:
Cell Biology International. 32:1193-1198
Polycystin-2 (PC-2), a protein encoded by PKD2 and involved in autosomal dominant polycystic kidney disease (ADPKD), is a non-selective cationic channel recently implicated in the function of primary cilia. We recently constructed a new animal model
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8f0c7a909ed777c98ca74d5dc5c47533
https://doi.org/10.1016/j.cellbi.2008.07.021
https://doi.org/10.1016/j.cellbi.2008.07.021
Autor:
Olivier Ghez, Mathieu Dandonneau, Robert G. Kelly, Magali Théveniau-Ruissy, Karim Mesbah, Lucile Miquerol, Marie-Geneviève Mattei
Publikováno v:
Circulation Research. 103:142-148
TBX1 , encoding a T-box containing transcription factor, is the major candidate gene for del22q11.2 or DiGeorge syndrome, characterized by craniofacial and cardiovascular defects including tetralogy of Fallot and common arterial trunk. Mice lacking T
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::17e9bfdf4f17a9fdcb964828536974b1
https://doi.org/10.1161/circresaha.108.172189
https://doi.org/10.1161/circresaha.108.172189
Autor:
Michael J. Mitchell, Cécile Mignon-Ravix, Judith Luciani, Catherine Metzler-Guillemain, Danielle Depetris, Marie-Geneviève Mattei
Publikováno v:
Chromosome Research. 16:761-782
SUMO-1, a ubiquitin-like protein, is covalently bound to many proteins, leading to chromatin inactivation and transcriptional repression. The high concentration of SUMO-1 on the XY body in rodents suggests that this protein has an important role in f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e73899da05e44195560077a0866cdbf3
https://doi.org/10.1007/s10577-008-1225-7
https://doi.org/10.1007/s10577-008-1225-7
Autor:
Patrick Collignon, Cécile Mignon-Ravix, Peter M. Kroisel, Bruno Delobel, Chantal Missirian, Judith Luciani, Anne Moncla, Marie-Geneviève Mattei, M.-F. Croquette, Danielle Depetris, Cristina Cuoco, Małgorzata Krajewska-Walasek
Publikováno v:
European Journal of Human Genetics. 15:432-440
Unbalanced translocations, that involve the proximal chromosome 15 long arm and the telomeric region of a partner chromosome, result in a karyotype of 45 chromosomes with monosomy of the proximal 15q imprinted region. Here, we present our analysis of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::434adb32d914344009da9ea98fd440db
https://doi.org/10.1038/sj.ejhg.5201775
https://doi.org/10.1038/sj.ejhg.5201775
Autor:
Marie-Geneviève Mattei, Cécile Mignon-Ravix, Judith Luciani, Hüseyin Sirma, Anne Moncla, Yves Usson, Jean Feunteun, Danielle Depetris, Michael J. Mitchell, André Mégarbané, Catherine Metzler-Guillemain, Pierre Sarda
Publikováno v:
Journal of Cell Science
Journal of Cell Science, Company of Biologists, 2006, 119 (Pt 12), pp.2518-31. ⟨10.1242/jcs.02965⟩
Journal of Cell Science, Company of Biologists, 2006, 119 (Pt 12), pp.2518-31. ⟨10.1242/jcs.02965⟩
We have recently demonstrated that heterochromatin HP1 proteins are aberrantly distributed in lymphocytes of patients with immunodeficiency, centromeric instability and facial dysmorphy (ICF) syndrome. The three HP1 proteins accumulate in one giant b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bfda3d4ca1d1413280030659f1cea6e4
https://doi.org/10.1242/jcs.02965
https://doi.org/10.1242/jcs.02965
Autor:
Laurence Colleaux, Nicole Philip, Anne Moncla, Marie Geneviève Mattei, Chantal Missirian, Tania Attié-Bitach, Sabine Sigaudy, G. Bollini
Publikováno v:
American Journal of Medical Genetics Part A. :39-44
We report the case of a girl presenting with an unusual form of multiple joint fusion. Skeletal abnormalities consisted of radioulnar synostosis and vertebral fusions without any carpal, digital or tarsal involvement, and broad ribs and clavicles. Sp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f90135f907888181a4a46b77b8b2a4bb
https://doi.org/10.1002/ajmg.a.30468
https://doi.org/10.1002/ajmg.a.30468
Autor:
E. Ginglinger, E. Jeandidier, S. Salman, Cécile Mignon-Ravix, C. Schluth, J. Willig, Marie Geneviève Mattei, Yves Alembik
Publikováno v:
American Journal of Medical Genetics Part A. :179-184
We report the case of a boy whose karyotype at birth showed additional material on one chromosome 15. He underwent treatment for unilateral nephroblastoma at 6 years old. At 23 years old, he presented with body asymmetry, facial dysmorphism, arachnod
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9aead930f62facde3f86c34969e3adfc
https://doi.org/10.1002/ajmg.a.30745
https://doi.org/10.1002/ajmg.a.30745