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Refinado por: Base de dados/Biblioteca: DOAJ Directory of Open Access Journals remover assunto: Mutation remover
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11
A human immunodeficiency caused by mutations in the PIK3R1 gene
A human immunodeficiency caused by mutations in the PIK3R1 gene
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A human immunodeficiency caused by mutations in the PIK3R1 gene

Deau, Marie-Céline ; Heurtier, Lucie ; Frange, Pierre ; Suarez, Felipe ; Bole-Feysot, Christine ; Nitschke, Patrick ; Cavazzana, Marina ; Picard, Capucine ; Durandy, Anne ; Fischer, Alain ; Kracker, Sven

The Journal of clinical investigation, 2014-09, Vol.124 (9), p.3923-3928 [Periódico revisado por pares]

United States: American Society for Clinical Investigation

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12
Circadian regulation of mitochondrial uncoupling and lifespan
Circadian regulation of mitochondrial uncoupling and lifespan
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Circadian regulation of mitochondrial uncoupling and lifespan

Ulgherait, Matt ; Chen, Anna ; McAllister, Sophie F ; Kim, Han X ; Delventhal, Rebecca ; Wayne, Charlotte R ; Garcia, Christian J ; Recinos, Yocelyn ; Oliva, Miles ; Canman, Julie C ; Picard, Martin ; Owusu-Ansah, Edward ; Shirasu-Hiza, Mimi

Nature communications, 2020-04, Vol.11 (1), p.1927-16, Article 1927 [Periódico revisado por pares]

England: Nature Publishing Group

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13
Constitutive activity of the melanocortin-4 receptor is maintained by its N-terminal domain and plays a role in energy homeostasis in humans
Constitutive activity of the melanocortin-4 receptor is maintained by its N-terminal domain and plays a role in energy homeostasis in humans
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Constitutive activity of the melanocortin-4 receptor is maintained by its N-terminal domain and plays a role in energy homeostasis in humans

Srinivasan, Supriya ; Lubrano-Berthelier, Cecile ; Govaerts, Cedric ; Picard, Franck ; Santiago, Pamela ; Conklin, Bruce R ; Vaisse, Christian

The Journal of clinical investigation, 2004-10, Vol.114 (8), p.1158-1164 [Periódico revisado por pares]

United States: American Society for Clinical Investigation

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14
Genetic Evidence for Elevated Pathogenicity of Mitochondrial DNA Heteroplasmy in Autism Spectrum Disorder
Genetic Evidence for Elevated Pathogenicity of Mitochondrial DNA Heteroplasmy in Autism Spectrum Disorder
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Genetic Evidence for Elevated Pathogenicity of Mitochondrial DNA Heteroplasmy in Autism Spectrum Disorder

Wang, Yiqin ; Picard, Martin ; Gu, Zhenglong Girirajan, Santhosh

PLoS genetics, 2016-10, Vol.12 (10), p.e1006391-e1006391 [Periódico revisado por pares]

United States: Public Library of Science

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15
Anti-Müllerian hormone recruits BMPR-IA in immature granulosa cells
Anti-Müllerian hormone recruits BMPR-IA in immature granulosa cells
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Anti-Müllerian hormone recruits BMPR-IA in immature granulosa cells

Sèdes, Lauriane ; Leclerc, Arnaud ; Moindjie, Hadia ; Cate, Richard L ; Picard, Jean-Yves ; di Clemente, Nathalie ; Jamin, Soazik P Veitia, Reiner Albert

PloS one, 2013-11, Vol.8 (11), p.e81551-e81551 [Periódico revisado por pares]

United States: Public Library of Science

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16
The histone variant H2A.W and linker histone H1 co-regulate heterochromatin accessibility and DNA methylation
The histone variant H2A.W and linker histone H1 co-regulate heterochromatin accessibility and DNA methylation
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The histone variant H2A.W and linker histone H1 co-regulate heterochromatin accessibility and DNA methylation

Bourguet, Pierre ; Picard, Colette L ; Yelagandula, Ramesh ; Pélissier, Thierry ; Lorković, Zdravko J ; Feng, Suhua ; Pouch-Pélissier, Marie-Noëlle ; Schmücker, Anna ; Jacobsen, Steven E ; Berger, Frédéric ; Mathieu, Olivier

Nature communications, 2021-05, Vol.12 (1), p.2683-2683, Article 2683 [Periódico revisado por pares]

England: Nature Publishing Group

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17
Longitudinal stability of molecular alterations and drug response profiles in tumor spheroid cell lines enables reproducible analyses
Longitudinal stability of molecular alterations and drug response profiles in tumor spheroid cell lines enables reproducible analyses
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Longitudinal stability of molecular alterations and drug response profiles in tumor spheroid cell lines enables reproducible analyses

Nickel, A.C. ; Picard, D. ; Qin, N. ; Wolter, M. ; Kaulich, K. ; Hewera, M. ; Pauck, D. ; Marquardt, V. ; Torga, G. ; Muhammad, S. ; Zhang, W. ; Schnell, O. ; Steiger, H.-J. ; Hänggi, D. ; Fritsche, E. ; Her, N.-G. ; Nam, D.-H. ; Carro, M.S. ; Remke, M. ; Reifenberger, G. ; Kahlert, U.D.

Biomedicine & pharmacotherapy, 2021-12, Vol.144, p.112278-112278, Article 112278 [Periódico revisado por pares]

France: Elsevier Masson SAS

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18
Expanding the Clinical and Genetic Spectrum of KRT1, KRT2 and KRT10 Mutations in Keratinopathic Ichthyosis
Expanding the Clinical and Genetic Spectrum of KRT1, KRT2 and KRT10 Mutations in Keratinopathic Ichthyosis
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Expanding the Clinical and Genetic Spectrum of KRT1, KRT2 and KRT10 Mutations in Keratinopathic Ichthyosis

Hotz, Alrun ; Oji, Vinzenz ; Bourrat, Emmanuelle ; Jonca, Nathalie ; Mazereeuw-Hautier, Juliette ; Betz, Regina C ; Blume-Peytavi, Ulrike ; Stieler, Karola ; Morice-Picard, Fanny ; Schönbuchner, Ines ; Markus, Susanne ; Schlipf, Nina ; Fischer, Judith

Acta dermato-venereologica, 2016-01, Vol.96 (4), p.473-478 [Periódico revisado por pares]

Sweden

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19
Investigations into SARS-CoV-2 and other coronaviruses on mink farms in France late in the first year of the COVID-19 pandemic
Investigations into SARS-CoV-2 and other coronaviruses on mink farms in France late in the first year of the COVID-19 pandemic
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Investigations into SARS-CoV-2 and other coronaviruses on mink farms in France late in the first year of the COVID-19 pandemic

Wasniewski, Marine ; Boué, Franck ; Richomme, Céline ; Simon-Lorière, Etienne ; der Werf, Sylvie Van ; Donati, Flora ; Enouf, Vincent ; Blanchard, Yannick ; Beven, Véronique ; Leperchois, Estelle ; Leterrier, Bryce ; Corbet, Sandrine ; Le Gouil, Meriadeg ; Monchatre-Leroy, Elodie ; Picard-Meyer, Evelyne Motayo, Babatunde Olanrewaju

PloS one, 2023-08, Vol.18 (8), p.e0290444-e0290444 [Periódico revisado por pares]

United States: Public Library of Science

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20
Inherited MST1 deficiency underlies susceptibility to EV-HPV infections
Inherited MST1 deficiency underlies susceptibility to EV-HPV infections
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Inherited MST1 deficiency underlies susceptibility to EV-HPV infections

Crequer, Amandine ; Picard, Capucine ; Patin, Etienne ; D'Amico, Aurelia ; Abhyankar, Avinash ; Munzer, Martine ; Debré, Marianne ; Zhang, Shen-Ying ; de Saint-Basile, Geneviève ; Fischer, Alain ; Abel, Laurent ; Orth, Gérard ; Casanova, Jean-Laurent ; Jouanguy, Emmanuelle Wurfel, Mark M.

PloS one, 2012-08, Vol.7 (8), p.e44010-e44010 [Periódico revisado por pares]

United States: Public Library of Science

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