Zobrazeno 1 - 10
of 23
pro vyhledávání: '"Vincent Thoreau"'
Autor:
Gara Samara Brajadenta, Ariestya Indah Permata Sari, Donny Nauphar, Tiar Masykuroh Pratamawati, Vincent Thoreau
Publikováno v:
Journal of Medical Case Reports, Vol 13, Iss 1, Pp 1-6 (2019)
Abstract Background Apert syndrome, Online Mendelian Inheritance in Man number 101200, is a rare genetic condition, with autosomal dominant inheritance, characterized by craniosynostosis, midfacial malformation, and severe symmetrical syndactyly. Ape
Externí odkaz:
https://doaj.org/article/49e30947141741849948e35c814c051c
Autor:
Charles-Albert Chapotte-Baldacci, Guénaëlle Lizot, Cyrielle Jajkiewicz, Manuella Lévêque, Aubin Penna, Christophe Magaud, Vincent Thoreau, Patrick Bois, Stéphane Sebille, Aurélien Chatelier
Publikováno v:
Cells, Vol 9, Iss 7, p 1684 (2020)
Anomalies in constitutive calcium entry (CCE) have been commonly attributed to cell dysfunction in pathological conditions such as cancer. Calcium influxes of this type rely on channels, such as transient receptor potential (TRP) channels, to be cons
Externí odkaz:
https://doaj.org/article/fed9510d0d9248da8c18d4caf5f6f895
Autor:
Romain Ferru-Clément, Fleur Fresquet, Caroline Norez, Thierry Métayé, Frédéric Becq, Alain Kitzis, Vincent Thoreau
Publikováno v:
PLoS ONE, Vol 10, Iss 3, p e0118943 (2015)
Cystic fibrosis transmembrane conductance regulator (CFTR) is a chloride channel that is expressed on the apical plasma membrane (PM) of epithelial cells. The most common deleterious allele encodes a trafficking-defective mutant protein undergoing en
Externí odkaz:
https://doaj.org/article/06e6a49239cf4287802be970c672be44
Autor:
Ferdos Alaa El Din, Sylvie Patri, Vincent Thoreau, Montserrat Rodriguez-Ballesteros, Eva Hamade, Sabine Bailly, Brigitte Gilbert-Dussardier, Raghida Abou Merhi, Alain Kitzis
Publikováno v:
PLoS ONE, Vol 10, Iss 7, p e0132111 (2015)
Hereditary Hemorrhagic Telangiectasia syndrome (HHT) or Rendu-Osler-Weber (ROW) syndrome is an autosomal dominant vascular disorder. Two most common forms of HHT, HHT1 and HHT2, have been linked to mutations in the endoglin (ENG) and activin receptor
Externí odkaz:
https://doaj.org/article/396ad9d2ea1f40a3bcdab7891357584f
Autor:
Gara Samara Brajadenta, Alain Kitzis, Agustini Utari, Frédéric Bilan, Sylvie Patri, Vincent Thoreau, Sultana M.H. Faradz
Publikováno v:
Annals of Laboratory Medicine
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::511bc3eb26e5a4f67dd72621afa63ce3
https://doi.org/10.3343/alm.2019.39.5.503
https://doi.org/10.3343/alm.2019.39.5.503
Autor:
Ariestya Indah Permata Sari, Vincent Thoreau, Donny Nauphar, Tiar M Pratamawati, Gara Samara Brajadenta
Publikováno v:
Journal of Medical Case Reports, Vol 13, Iss 1, Pp 1-6 (2019)
Journal of Medical Case Reports
Journal of Medical Case Reports
Background Apert syndrome, Online Mendelian Inheritance in Man number 101200, is a rare genetic condition, with autosomal dominant inheritance, characterized by craniosynostosis, midfacial malformation, and severe symmetrical syndactyly. Apert syndro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3302259f847b7772f945485de2ebd6c2
https://doi.org/10.1186/s13256-019-2173-x
https://doi.org/10.1186/s13256-019-2173-x
Autor:
Frédéric Bilan, Gara Samara Brajadenta, Brigitte Gilbert-Dussardier, Vincent Thoreau, Alain Kitzis
Publikováno v:
Eur J Hum Genet
CHARGE syndrome is a rare genetic disease characterized by numerous congenital abnormalities, mainly caused by de novo alterations of the CHD7 gene. It encodes a chromodomain protein, involved in the ATP-dependent remodeling of chromatin. The vast ma
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::48e91e32008b452b64c2524388195f35
https://pubmed.ncbi.nlm.nih.gov/31289371
https://pubmed.ncbi.nlm.nih.gov/31289371
Autor:
Christophe Magaud, Manuella Lévêque, Stéphane Sebille, Cyrielle jajkiewicz, Aurélien Chatelier, Charles-Albert Chapotte-Baldacci, Patrick Bois, Aubin Penna, Vincent Thoreau, Guénaëlle Lizot
Publikováno v:
Cells
Volume 9
Issue 7
Cells, MDPI, 2020, 9 (7), pp.1684. ⟨10.3390/cells9071684⟩
Cells, Vol 9, Iss 1684, p 1684 (2020)
Volume 9
Issue 7
Cells, MDPI, 2020, 9 (7), pp.1684. ⟨10.3390/cells9071684⟩
Cells, Vol 9, Iss 1684, p 1684 (2020)
International audience; Anomalies in constitutive calcium entry (CCE) have been commonly attributed to cell dysfunction in pathological conditions such as cancer. Calcium influxes of this type rely on channels, such as transient receptor potential (T
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f05a761b67748d8a03fb55f0fbaf849
https://doi.org/10.3390/cells9071684
https://doi.org/10.3390/cells9071684
Autor:
Ingrid Duguépéroux, Emmanuelle Girodon, C. Thèze, David Baux, Marie-Pierre Audrézet, M.-P. Reboul, V. Gaston, Eric Bieth, Thierry Bienvenu, Marie des Georges, Lydie Lemonnier, C. Bareil, Mireille Claustres, C. Raynal, Guy Lalau, Marie-Claire Malinge, Souphatta Sasorith, Vincent Thoreau, Chadia Mekki, Pascale Fanen, Anne Bergougnoux, Patricia Fergelot, Alain Kitzis, Claude Férec, A. Pagin
Publikováno v:
Human Mutation
Human Mutation, Wiley, 2017, 38 (10), pp.1297-1315. ⟨10.1002/humu.23276⟩
Human Mutation, Wiley, 2017, 38 (10), pp.1297-1315. ⟨10.1002/humu.23276⟩
International audience; Most of the 2,000 variants identified in the CFTR (cystic fibrosis transmembrane regulator) gene are rare or private. Their interpretation is hampered by the lack of available data and resources, making patient care and geneti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8082cfd704b4f7ba7405b39279e65427
https://hal.umontpellier.fr/hal-02434844
https://hal.umontpellier.fr/hal-02434844
Publikováno v:
Journal of Physics: Conference Series. 1360:012002
CHARGE syndrome is a rare genetic disease characterized by numerous congenital abnormalities caused by de novo alterations of the CHD7 gene. It encodes a chromo domain protein, involved in the ATP-dependent remodelling of chromatin. It has been descr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fe85d20c0e6075df7cba083f99281acc
https://doi.org/10.1088/1742-6596/1360/1/012002
https://doi.org/10.1088/1742-6596/1360/1/012002