Zobrazeno 1 - 10
of 33
pro vyhledávání: '"Fabienne Maurer"'
Autor:
Fabienne Maurer, Sylvain Pradervand, Isabelle Guilleret, David Nanchen, Ali Maghraoui, Laurence Chapatte, Karolina Bojkowska, Zahurul Alam Bhuiyan, Nathalie Jacquemont, Keith Harshman, Vincent Mooser
Publikováno v:
Swiss Medical Weekly, Vol 146, Iss 3132 (2016)
AIMS: We aimed to identify familial hypercholesterolaemia mutation carriers among participants to the Lausanne Institutional Biobank (BIL). Our experimental workflow was designed as a proof-of-concept demonstration of the resources and services provi
Externí odkaz:
https://doaj.org/article/61b32441e79c4de487042eb4a414c680
Autor:
Micha Hersch, Bastian Peter, Hyun Min Kang, Fanny Schüpfer, Hugues Abriel, Thierry Pedrazzini, Eleazar Eskin, Jacques S. Beckmann, Sven Bergmann, Fabienne Maurer
Publikováno v:
PLoS ONE, Vol 9, Iss 1 (2014)
Externí odkaz:
https://doaj.org/article/680d63122f53464d8c1d5ebb51e452a6
Autor:
Micha Hersch, Bastian Peter, Hyun Min Kang, Fanny Schüpfer, Hugues Abriel, Thierry Pedrazzini, Eleazar Eskin, Jacques S Beckmann, Sven Bergmann, Fabienne Maurer
Publikováno v:
PLoS ONE, Vol 7, Iss 7, p e41032 (2012)
β-blockers and β-agonists are primarily used to treat cardiovascular diseases. Inter-individual variability in response to both drug classes is well recognized, yet the identity and relative contribution of the genetic players involved are poorly u
Externí odkaz:
https://doaj.org/article/2e240413ba254489ac98886f32c83757
Autor:
Corinne Berthonneche, Bastian Peter, Fanny Schüpfer, Pamela Hayoz, Zoltán Kutalik, Hugues Abriel, Thierry Pedrazzini, Jacques S Beckmann, Sven Bergmann, Fabienne Maurer
Publikováno v:
PLoS ONE, Vol 4, Iss 8, p e6610 (2009)
We report the characterisation of 27 cardiovascular-related traits in 23 inbred mouse strains. Mice were phenotyped either in response to chronic administration of a single dose of the beta-adrenergic receptor blocker atenolol or under a low and a hi
Externí odkaz:
https://doaj.org/article/5b45e8963ff34d2bb1f91365efe30e60
Autor:
Dennis Kraemer, Dillenn Terumalai, Maria Livia Famiglietti, Isabel Filges, Pascal Joset, Samuel Koller, Fabienne Maurer, Stéphanie Meier, Thierry Nouspikel, Javier Sanz, Christiane Zweier, Marc Abramowicz, Wolfgang Berger, Sven Cichon, André Schaller, Andrea Superti-Furga, Valérie Barbié, Anita Rauch
Large-scale next-generation sequencing (NGS) germline testing is technically feasible today, but variant interpretation represents a major bottleneck in analysis workflows including the extensive variant prioritization, annotation, and time-consuming
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b22a0ecd6ab22544aaa90fbfd38d1a39
https://doi.org/10.1101/2023.01.11.22283790
https://doi.org/10.1101/2023.01.11.22283790
Autor:
Claire Redin, Despina Christina Pavlidou, Zahurul Bhuiyan, Alessandra Pia Porretta, Pierre Monney, Nicola Bedoni, Fabienne Maurer, Nicole Sekarski, Isis Atallah, Davoine Émeline, Xavier Jeanrenaud, Etienne Pruvot, Jacques Fellay, Andrea Superti-Furga
Publikováno v:
European journal of medical genetics, vol. 65, no. 12, pp. 104627
MYBPC3 is the most frequently mutated gene in hypertrophic cardiomyopathy (HCM). Several loss-of-function founder variants have been reported in MYBPC3 from various geographic regions, altogether suggestive of a modest or absent effect of these varia
Autor:
Jean-Jacques Médard, Jacques S. Beckmann, Roman Chrast, Carmen Espinós, Vincenzo Lupo, Luca Bartesaghi, Jan Senderek, Eduardo Calpena, Fabienne Maurer, Fanny Schüpfer, Francesc Palau, Estelle Arnaud Gouttenoire
Publikováno v:
Glia. 61:1041-1051
Mutations in SH3TC2 trigger autosomal recessive demyelinating Charcot-Marie-Tooth type 4C (CMT4C) neuropathy. Sh3tc2 is specifically expressed in Schwann cells and is necessary for proper myelination of peripheral axons. In line with the early onset
Autor:
Isabelle Guilleret, Fabienne Maurer, Zahurul A. Bhuiyan, Sylvain Pradervand, Nathalie Jacquemont, David Nanchen, Karolina Bojkowska, Keith Harshman, Laurence Chapatte, Ali Maghraoui, Vincent Mooser
Publikováno v:
Swiss medical weekly, vol. 146, pp. w14326
AIMS We aimed to identify familial hypercholesterolaemia mutation carriers among participants to the Lausanne Institutional Biobank (BIL). Our experimental workflow was designed as a proof-of-concept demonstration of the resources and services provid
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43607d03c69b8646cf902602c6b2b417
https://serval.unil.ch/notice/serval:BIB_3496C46C20B6
https://serval.unil.ch/notice/serval:BIB_3496C46C20B6
Autor:
Valérie Buchillier, Jianhua Chen, Laurence Ladrière, Christophe Bonny, Decio L. Eizirik, Fabienne Maurer, Alessandra K Cardozo, Stephan Kellenberger, Jacques S. Beckmann, Fernanda Ortis, Olivier Poirot, Marc Mathieu, Nathalie Allaman-Pillet
Publikováno v:
Biochimica et Biophysica Acta (BBA) - Biomembranes. 1768(9):2222-2234
We have explored the threshold of tolerance of three unrelated cell types to treatments with potential cytoprotective peptides bound to Tat(48-57) and Antp(43-58) cell-permeable peptide carriers. Both Tat(48-57) and Antp(43-58) are well known for the
Autor:
Amar Abderrahmani, Ole Kristensen, Michael Gajhede, Fabienne Maurer, Jette S. Kastrup, Nathalie Allaman-Pillet, Imran Dar, Raphaël Roduit, Mourad Ferdaoussi, Sylvie Guenat, Jacques S. Beckmann, Christophe Bonny
Publikováno v:
The EMBO Journal. 25:785-797
Islet-brain 1 (IB1 or JIP-1) is a scaffold protein that interacts with components of the c-Jun N-terminal kinase (JNK) signal-transduction pathway. IB1 is expressed at high levels in neurons and in pancreatic beta-cells, where it controls expression