Zobrazeno 1 - 10
of 63
pro vyhledávání: '"Jean Pierre, Desvignes"'
Protein domains provide a new layer of information for classifying human variations in rare diseases
Autor:
Mélanie Corcuff, Marc Garibal, Jean-Pierre Desvignes, Céline Guien, Coralie Grattepanche, Gwenaëlle Collod-Béroud, Estelle Ménoret, David Salgado, Christophe Béroud
Publikováno v:
Frontiers in Bioinformatics, Vol 3 (2023)
Introduction: Using the ACMG-AMP guidelines for the interpretation of sequence variants, it remains difficult to meet the criterion associated with the protein domain, PM1, which is assigned in only about 10% of cases, whereas the criteria related to
Externí odkaz:
https://doaj.org/article/09c230dfc30e468b8da3427bb96c6d89
Autor:
Tui Neri, Emilye Hiriart, Patrick P. van Vliet, Emilie Faure, Russell A. Norris, Batoul Farhat, Bernd Jagla, Julie Lefrancois, Yukiko Sugi, Thomas Moore-Morris, Stéphane Zaffran, Randolph S. Faustino, Alexander C. Zambon, Jean-Pierre Desvignes, David Salgado, Robert A. Levine, Jose Luis de la Pompa, André Terzic, Sylvia M. Evans, Roger Markwald, Michel Pucéat
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-14 (2019)
There are few human models that can recapitulate valve development in vitro. Here, the authors derive human pre-valvular endocardial cells (HPVCs) from iPSCs and show they can recapitulate early valvulogenesis, and patient derived HPVCs have features
Externí odkaz:
https://doaj.org/article/e45f606ce5c6400ca0225b4e0d2ad5be
Autor:
Nadine Jalkh, Sandra Corbani, Zahraa Haidar, Nadine Hamdan, Elias Farah, Joelle Abou Ghoch, Rouba Ghosn, Nabiha Salem, Ali Fawaz, Claudia Djambas Khayat, Mariam Rajab, Chebl Mourani, Adib Moukarzel, Simon Rassi, Bernard Gerbaka, Hicham Mansour, Malek Baassiri, Rawane Dagher, David Breich, André Mégarbané, Jean Pierre Desvignes, Valérie Delague, Cybel Mehawej, Eliane Chouery
Publikováno v:
BMC Medical Genomics, Vol 12, Iss 1, Pp 1-7 (2019)
Abstract Background The past few decades have witnessed a tremendous development in the field of genetics. The implementation of next generation sequencing (NGS) technologies revolutionized the field of molecular biology and made the genetic informat
Externí odkaz:
https://doaj.org/article/05a422e6778046b28f3efa5646c21d80
Autor:
Sonia Stefanovic, Brigitte Laforest, Jean-Pierre Desvignes, Fabienne Lescroart, Laurent Argiro, Corinne Maurel-Zaffran, David Salgado, Elise Plaindoux, Christopher De Bono, Kristijan Pazur, Magali Théveniau-Ruissy, Christophe Béroud, Michel Puceat, Anthony Gavalas, Robert G Kelly, Stephane Zaffran
Publikováno v:
eLife, Vol 9 (2020)
Perturbation of addition of second heart field (SHF) cardiac progenitor cells to the poles of the heart tube results in congenital heart defects (CHD). The transcriptional programs and upstream regulatory events operating in different subpopulations
Externí odkaz:
https://doaj.org/article/f0ba5bb2ee984edebc640892171cda28
Autor:
Nehla Ghedira, Arnaud Lagarde, Karim Ben Ameur, Sahar Elouej, Rania Sakka, Emna Kerkeni, Fatma-Zohra Chioukh, Sylviane Olschwang, Jean-Pierre Desvignes, Sonia Abdelhak, Valerie Delague, Nicolas Lévy, Kamel Monastiri, Annachiara De Sandre-Giovannoli
Publikováno v:
BMC Pediatrics, Vol 18, Iss 1, Pp 1-7 (2018)
Abstract Background Noonan syndrome (NS) is an autosomal dominant multisystem disorder caused by the dysregulation of several genes belonging to the RAS Mitogen Activated Protein Kinase (MAPK) signaling pathway. Incontinentia Pigmenti (IP) is an X-li
Externí odkaz:
https://doaj.org/article/2075abb963354d6cb92751f79f22ca45
Autor:
Elena Gargaun, Sestina Falcone, Guilhem Solé, Julien Durigneux, Andoni Urtizberea, Jean Marie Cuisset, Sofia Benkhelifa-Ziyyat, Laura Julien, Anne Boland, Florian Sandron, Vincent Meyer, Jean François Deleuze, David Salgado, Jean-Pierre Desvignes, Christophe Béroud, Anatole Chessel, Alexia Blesius, Martin Krahn, Nicolas Levy, France Leturcq, France Pietri-Rouxel
Publikováno v:
Biomedicines, Vol 9, Iss 2, p 219 (2021)
In skeletal muscle, long noncoding RNAs (lncRNAs) are involved in dystrophin protein stabilization but also in the regulation of myocytes proliferation and differentiation. Hence, they could represent promising therapeutic targets and/or biomarkers f
Externí odkaz:
https://doaj.org/article/968c00f1b0d148c5bfa7adb3b5474094
Autor:
Bridlin Barckmann, Stéphanie Pierson, Jérémy Dufourt, Catherine Papin, Claudia Armenise, Fillip Port, Thomas Grentzinger, Séverine Chambeyron, Grégory Baronian, Jean-Pierre Desvignes, Tomaz Curk, Martine Simonelig
Publikováno v:
Cell Reports, Vol 12, Iss 7, Pp 1205-1216 (2015)
The Piwi-interacting RNA (piRNA) pathway plays an essential role in the repression of transposons in the germline. Other functions of piRNAs such as post-transcriptional regulation of mRNAs are now emerging. Here, we perform iCLIP with the PIWI prote
Externí odkaz:
https://doaj.org/article/62baf30bff654c508adeac150b41c93f
Autor:
Laurent Jallades, Lucile Baseggio, Pierre Sujobert, Sarah Huet, Kaddour Chabane, Evelyne Callet-Bauchu, Aurélie Verney, Sandrine Hayette, Jean-Pierre Desvignes, David Salgado, Nicolas Levy, Christophe Béroud, Pascale Felman, Françoise Berger, Jean-Pierre Magaud, Laurent Genestier, Gilles Salles, Alexandra Traverse-Glehen
Publikováno v:
Haematologica, Vol 102, Iss 10 (2017)
Splenic diffuse red pulp lymphoma is an indolent small B-cell lymphoma recognized as a provisional entity in the World Health Organization 2008 classification. Its precise relationship to other related splenic B-cell lymphomas with frequent leukemic
Externí odkaz:
https://doaj.org/article/378f02704dce49788dd4f95fe7363ef6
Autor:
Marie-Christine Etienne-Grimaldi, Jean-Christophe Boyer, Christophe Beroud, Litaty Mbatchi, André van Kuilenburg, Christine Bobin-Dubigeon, Fabienne Thomas, Etienne Chatelut, Jean-Louis Merlin, Frédéric Pinguet, Christophe Ferrand, Judith Meijer, Alexandre Evrard, Laurence Llorca, Gilles Romieu, Philippe Follana, Thomas Bachelot, Loic Chaigneau, Xavier Pivot, Véronique Dieras, Rémy Largillier, Mireille Mousseau, Anthony Goncalves, Henri Roché, Jacques Bonneterre, Véronique Servent, Nadine Dohollou, Yann Château, Emmanuel Chamorey, Jean-Pierre Desvignes, David Salgado, Jean-Marc Ferrero, Gérard Milano
Publikováno v:
PLoS ONE, Vol 12, Iss 5, p e0175998 (2017)
Deficiency in dihydropyrimidine dehydrogenase (DPD) enzyme is the main cause of severe and lethal fluoropyrimidine-related toxicity. Various approaches have been developed for DPD-deficiency screening, including DPYD genotyping and phenotyping. The g
Externí odkaz:
https://doaj.org/article/e851b305e66844848f3f60697e611308
Autor:
Christel Dagher, Audrey Criqui, Nathalie Roeckel-Trevisiol, Christel Castro, Daniel Mahfoud, Hala Mégarbané, Sylvain Baulande, André Mégarbané, Sayeeda Hana, Stephany El-Hayek, Mahmoud Taleb Al-Ali, Jean-Pierre Desvignes, Valérie Delague
Publikováno v:
Molecular Syndromology
Molecular Syndromology, 2021, 12 (6), pp.342-350. ⟨10.1159/000517253⟩
Mol Syndromol
Molecular Syndromology, Karger, 2021, 12 (6), pp.342-350. ⟨10.1159/000517253⟩
Molecular Syndromology, 2021, 12 (6), pp.342-350. ⟨10.1159/000517253⟩
Mol Syndromol
Molecular Syndromology, Karger, 2021, 12 (6), pp.342-350. ⟨10.1159/000517253⟩
We report on 2 cousins, a girl and a boy, born to first-cousin Lebanese parents with Hamamy syndrome, exhibiting developmental delay, intellectual disability, severe telecanthus, abnormal ears, dentinogenesis imperfecta, and bone fragility. Whole-exo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0fd26fd4373b9c4259fcbc827655ef5b
https://hal-amu.archives-ouvertes.fr/hal-03662760
https://hal-amu.archives-ouvertes.fr/hal-03662760
