Zobrazeno 1 - 10
of 225
pro vyhledávání: '"MESH: Amino Acid Substitution"'
Autor:
Henry Houlden, Thomas Haaf, Pratishtha Varshney, Christian Beetz, Hamid Galehdari, Lucy A Dunbar, Alireza Sedaghat, Richard J.H. Smith, Michael R. Bowl, Aziz El-Amraoui, Kevin T. Booth, David Murphy, Neda Mazaheri, Sandrine Vitry, Kumar N. Alagramam, Ben Fowler, Shruthi VijayKumar, Aboulfazl Rad, Hela Azaiez, Cassidy Petree, Barbara Vona, Sheng-Jia Lin, Gholamreza Shariati, Reza Maroofian, Franz Rüschendorf, Gaurav K. Varshney
Publikováno v:
Human Genetics
Human Genetics, 2021, 140 (6), pp.915-931. ⟨10.1007/s00439-020-02254-z⟩
Human Genetics, Springer Verlag, 2021, 140 (6), pp.915-931. ⟨10.1007/s00439-020-02254-z⟩
Human Genetics, 2021, 140 (6), pp.915-931. ⟨10.1007/s00439-020-02254-z⟩
Human Genetics, Springer Verlag, 2021, 140 (6), pp.915-931. ⟨10.1007/s00439-020-02254-z⟩
Deafness, the most frequent sensory deficit in humans, is extremely heterogeneous with hundreds of genes involved. Clinical and genetic analyses of an extended consanguineous family with pre-lingual, moderate-to-profound autosomal recessive sensorine
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ec2c6de213429b2f5213b9170fe9c29
https://doi.org/10.1007/s00439-020-02254-z
https://doi.org/10.1007/s00439-020-02254-z
Autor:
Philippe Desprès, Olivier Diaz, Pierre-Olivier Vidalain, Vincent Lotteau, Eva Ogire, Marjolaine Roche
Publikováno v:
International Journal of Molecular Sciences
International Journal of Molecular Sciences, 2021, 22 (4), pp.1951. ⟨10.3390/ijms22041951⟩
International Journal of Molecular Sciences, Vol 22, Iss 1951, p 1951 (2021)
International Journal of Molecular Sciences, MDPI, 2021, 22 (4), pp.1951. ⟨10.3390/ijms22041951⟩
Volume 22
Issue 4
International Journal of Molecular Sciences, 2021, 22 (4), pp.1951. ⟨10.3390/ijms22041951⟩
International Journal of Molecular Sciences, Vol 22, Iss 1951, p 1951 (2021)
International Journal of Molecular Sciences, MDPI, 2021, 22 (4), pp.1951. ⟨10.3390/ijms22041951⟩
Volume 22
Issue 4
La Reunion island in the South West Indian Ocean is now endemic for dengue following the introduction of dengue virus serotype 2 (DENV-2) cosmopolitan-I genotype in 2017. DENV-2 infection causes a wide spectrum of clinical manifestations ranging from
Autor:
Delavar Shahbazzadeh, Reza H. Sajedi, Jean-Marc Sabatier, Kamran Pooshang Bagheri, Abouzar Soleimani Moez
Publikováno v:
Molecules
Molecules, MDPI, 2020, 25 (7), pp.1673. ⟨10.3390/molecules25071673⟩
Volume 25
Issue 7
Molecules, 2020, 25 (7), pp.1673. ⟨10.3390/molecules25071673⟩
Molecules, Vol 25, Iss 1673, p 1673 (2020)
Molecules, MDPI, 2020, 25 (7), pp.1673. ⟨10.3390/molecules25071673⟩
Volume 25
Issue 7
Molecules, 2020, 25 (7), pp.1673. ⟨10.3390/molecules25071673⟩
Molecules, Vol 25, Iss 1673, p 1673 (2020)
Hemiscorpius lepturus (H. lepturus) which belongs to the Scorpionidae family, is the deadliest scorpion in Iran. It causes pathological manifestations like dermonecrosis, hemolysis, renal failure, necrotic ulcers, and in some cases, even death. The v
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e68377b836fdc71f59074a2cded37e91
https://hal-amu.archives-ouvertes.fr/hal-03357863
https://hal-amu.archives-ouvertes.fr/hal-03357863
Autor:
Gonzalo E. Yévenes, Gustavo Moraga-Cid, Hanns Ulrich Zeilhofer, Patricio A. Castro, Jorge Fuentealba, Luis G. Aguayo, Carola Muñoz-Montesino, Anggelo Sazo, Carlos F. Burgos, Cesar O. Lara, Pierre-Jean Corringer, Leonardo Guzmán, Ana M Marileo, Victoria P San Martín, Braulio Muñoz
Publikováno v:
Scientific Reports
Scientific Reports, Nature Publishing Group, 2020, 10 (1), pp.4804. ⟨10.1038/s41598-020-61677-w⟩
Scientific Reports, 10 (1)
Scientific Reports, Vol 10, Iss 1, Pp 1-11 (2020)
Scientific Reports, 2020, 10 (1), pp.4804. ⟨10.1038/s41598-020-61677-w⟩
Scientific Reports, Nature Publishing Group, 2020, 10 (1), pp.4804. ⟨10.1038/s41598-020-61677-w⟩
Scientific Reports, 10 (1)
Scientific Reports, Vol 10, Iss 1, Pp 1-11 (2020)
Scientific Reports, 2020, 10 (1), pp.4804. ⟨10.1038/s41598-020-61677-w⟩
Glycine receptors (GlyRs) are anion-permeable pentameric ligand-gated ion channels (pLGICs). The GlyR activation is critical for the control of key neurophysiological functions, such as motor coordination, respiratory control, muscle tone and pain pr
Autor:
Slim Fourati, Rozenn Brillet, Flora Donati, Abdelhakim Ahmed-Belkacem, Vanessa Démontant, Alexandre Soulier, Guillaume Gricourt, Lila Poiteau, Sabah Hamadat, Christophe Rodriguez, Nazim Ahnou, Stéphane Chevaliez, Jean-Michel Pawlotsky
Publikováno v:
Alimentary Pharmacology and Therapeuthics
Alimentary Pharmacology and Therapeuthics, 2020, 52 (10), pp.1583-1591. ⟨10.1111/apt.16054⟩
Alimentary Pharmacology and Therapeuthics, 2020, 52 (10), pp.1583-1591. ⟨10.1111/apt.16054⟩
International audience; Background: In hepatitis C virus (HCV) infection, treatment failure is generally associated with the selection of resistance-associated substitutions (RAS) conferring reduced susceptibility to direct-acting antiviral (DAA) dru
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d4326335dda8c5d52c9ce4da2f06e3f
https://hal-pasteur.archives-ouvertes.fr/pasteur-03139183
https://hal-pasteur.archives-ouvertes.fr/pasteur-03139183
Autor:
Léa Legrand, Pierre Sohier, Zackie Aktary, Christine Grill, Véronique Delmas, Lionel Larue, B. Vergier, Edouard Reyes-Gomez, Florence Bernex
Publikováno v:
Pigment Cell & melanoma research
Pigment Cell & melanoma research, Blackwell Munksgaard, 2018, 31 (3), pp.423-431. ⟨10.1111/pcmr.12677⟩
Pigment Cell & melanoma research, Blackwell Munksgaard, 2018, 31 (3), pp.423-431. ⟨10.1111/pcmr.12677⟩
International audience; Genetically engineered mouse models offer essential opportunities to investigate the mechanisms of initiation and progression in melanoma. Here, we report a new simplified histopathology classification of mouse melanocytic les
Autor:
Merih Berberoğlu, Régis Coutant, Şenay Savaş Erdeve, Cécile Brachet, Caroline Thalassinos, Frédéric Brioude, Michel Polak, Erdal Kurnaz, Sabrina Belkacem, Claudine Heinrichs, Aude Soleyan, Zeynep Şıklar, Nathalie Collot, Philippe Chanson, Jean-Claude Carel, Zehra Aycan, Marie-Laure Sobrier, Serge Amselem, Géraldine Viot, Noureddine Kaffel, Stanislas Lyonnet, Philippe Duquesnoy, Eliane Khallouf, Marie Legendre, Enzo Cohen, Soumeya Fedala, Sophie Rose, Florence Dastot, Frédérique Gatelais
Publikováno v:
Human Mutation
Human Mutation, 2019, 40 (11), pp.2033-2043. ⟨10.1002/humu.23847⟩
Human Mutation, Wiley, 2019, 40 (11), pp.2033-2043. ⟨10.1002/humu.23847⟩
Human Mutation, 2019, 40 (11), pp.2033-2043. ⟨10.1002/humu.23847⟩
Human Mutation, Wiley, 2019, 40 (11), pp.2033-2043. ⟨10.1002/humu.23847⟩
International audience; Isolated growth hormone deficiency (IGHD) is a rare condition mainly caused by mutations in GH1. The aim of this study was to assess the contribution of GHRHR mutations to IGHD in an unusually large group of patients. All GHRH
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::013fc4132e589725e8cbefc8344e1c72
https://www.hal.inserm.fr/inserm-03712902/document
https://www.hal.inserm.fr/inserm-03712902/document
Publikováno v:
Journal of Molecular Biology
Journal of Molecular Biology, Elsevier, 2018, 16 (3), pp.2493-2507. ⟨10.1016/j.jmb.2017.11.012⟩
Journal of Molecular Biology, Elsevier, 2017, 〈10.1016/j.jmb.2017.11.012〉
Journal of Molecular Biology 430 (2018): 2493–2507. doi:10.1016/j.jmb.2017.11.012
info:cnr-pdr/source/autori:Bignon C.; Troilo F.; Gianni S.; Longhi S./titolo:Partner-Mediated Polymorphism of an Intrinsically Disordered Protein/doi:10.1016%2Fj.jmb.2017.11.012/rivista:Journal of Molecular Biology/anno:2018/pagina_da:2493/pagina_a:2507/intervallo_pagine:2493–2507/volume:430
Journal of Molecular Biology, Elsevier, 2017, ⟨10.1016/j.jmb.2017.11.012⟩
Journal of Molecular Biology, 2017, ⟨10.1016/j.jmb.2017.11.012⟩
Journal of Molecular Biology, Elsevier, 2018, 16 (3), pp.2493-2507. ⟨10.1016/j.jmb.2017.11.012⟩
Journal of Molecular Biology, Elsevier, 2017, 〈10.1016/j.jmb.2017.11.012〉
Journal of Molecular Biology 430 (2018): 2493–2507. doi:10.1016/j.jmb.2017.11.012
info:cnr-pdr/source/autori:Bignon C.; Troilo F.; Gianni S.; Longhi S./titolo:Partner-Mediated Polymorphism of an Intrinsically Disordered Protein/doi:10.1016%2Fj.jmb.2017.11.012/rivista:Journal of Molecular Biology/anno:2018/pagina_da:2493/pagina_a:2507/intervallo_pagine:2493–2507/volume:430
Journal of Molecular Biology, Elsevier, 2017, ⟨10.1016/j.jmb.2017.11.012⟩
Journal of Molecular Biology, 2017, ⟨10.1016/j.jmb.2017.11.012⟩
International audience; Intrinsically disordered proteins (IDPs) recognize their partners through molecular recognition elements (MoREs). The MoRE of the C-terminal intrinsically disordered domain of the measles virus nucleoprotein (NTAIL) is partly
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba1c6a3c7e170b3725e577eba7c71f08
https://hal.archives-ouvertes.fr/hal-01802951
https://hal.archives-ouvertes.fr/hal-01802951
Autor:
Thierry Bienvenu, Sarah Baer, Yves Alembik, Laurent Pasquier, A.S. Lebre, Elise Schaefer, Sylvie Sukno, Caroline Nava, Cindy Colson, Didier Lacombe, Michèle Mathieu-Dramard, Valérie Cormier-Daire, Thomas Smol, Delphine Héron, Alice Goldenberg, Odile Boute, Martine Doco-Fenzy, Julien Thevenon, David Geneviève, Boris Keren, Nicole Philip, Catherine Vincent-Delorme, Sophie Rondeau, Alexandra Afenjar, Bruno Delobel, Damien Haye, G. Boursier, Marjolaine Willems, Amélie Piton, Mélanie Fradin, Alice Masurel, A. Petit, Bénédicte Gérard, Bertrand Isidor, Marie-Pierre Cordier, Pascale Saugier-Veber, Gilles Morin, Gaetan Lesca, Julien Van-Gils, Bénédicte Duban-Bedu, Maude Grelet, Juliette Piard
Publikováno v:
Clinical Genetics
Clinical Genetics, Wiley, 2018, 94 (1), pp.141-152. ⟨10.1111/cge.13254⟩
Clinical Genetics, 2018, 94 (1), pp.141-152. ⟨10.1111/cge.13254⟩
Clinical Genetics, Wiley, 2018, 94 (1), pp.141-152. ⟨10.1111/cge.13254⟩
Clinical Genetics, 2018, 94 (1), pp.141-152. ⟨10.1111/cge.13254⟩
International audience; Wiedemann-Steiner syndrome (WSS) is a rare syndromic condition in which intellectual disability (ID) is associated with hypertrichosis cubiti, short stature, and characteristic facies. Following the identification of the causa
Autor:
Mariela Scortti, Alexandra Moura, Lei Han, Guillaume Vales, Alexandre Leclercq, Olivier Disson, Marc Lecuit, Hélène Bracq-Dieye, Mylène M. Maury, Edith Gouin, José A. Vázquez-Boland, Viviane Chenal-Francisque
Publikováno v:
Infection and Immunity
Infection and Immunity, 2017, 85 (11), pp.e00541-17. ⟨10.1128/IAI.00541-17⟩
Infection and Immunity, American Society for Microbiology, 2017, 85 (11), pp.e00541-17. ⟨10.1128/IAI.00541-17⟩
Infection and Immunity, 2017, 85 (11), pp.e00541-17. ⟨10.1128/IAI.00541-17⟩
Infection and Immunity, American Society for Microbiology, 2017, 85 (11), pp.e00541-17. ⟨10.1128/IAI.00541-17⟩
The pathogenesis of Listeria monocytogenes depends on the ability of this bacterium to escape from the phagosome of the host cells via the action of the pore-forming toxin listeriolysin O (LLO). Expression of the LLO-encoding gene ( hly ) requires th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fcf4f14fd83d8d673ef38da2edf833b8
https://hal-pasteur.archives-ouvertes.fr/pasteur-02168452/document
https://hal-pasteur.archives-ouvertes.fr/pasteur-02168452/document