Zobrazeno 1 - 10
of 53
pro vyhledávání: '"Thierry Nouspikel"'
Autor:
Roberto Ricciardiello, Giulia Forleo, Lina Cipolla, Geraldine van Winckel, Caterina Marconi, Thierry Nouspikel, Thanos D. Halazonetis, Omar Zgheib, Simone Sabbioneda
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-8 (2024)
Abstract DNA polymerase eta (Polη) is the only translesion synthesis polymerase capable of error-free bypass of UV-induced cyclobutane pyrimidine dimers. A deficiency in Polη function is associated with the human disease Xeroderma pigmentosum varia
Externí odkaz:
https://doaj.org/article/98bb223a95e14e1fac273cbabf508600
Autor:
Valérie M. Schwitzgebel, Jean-Louis Blouin, Barbara Dehos, Bettina Köhler-Ballan, Jardena J. Puder, Claudine Rieubland, Maria Triantafyllidou, Anne Zanchi, Marc Abramowicz, Thierry Nouspikel
Publikováno v:
Frontiers in Medicine, Vol 11 (2024)
BackgroundMutations in the GCK gene cause Maturity Onset Diabetes of the Young (GCK-MODY) by impairing glucose-sensing in pancreatic beta cells. During pregnancy, managing this type of diabetes varies based on fetal genotype. Fetuses carrying a GCK m
Externí odkaz:
https://doaj.org/article/e4add68890ec4c8bb0e802631da0d9d9
Autor:
Omar Zgheib, Kamonwan Chamchoy, Thierry Nouspikel, Jean-Louis Blouin, Laurent Cimasoni, Lina Quteineh, Usa Boonyuen
Publikováno v:
Communications Biology, Vol 6, Iss 1, Pp 1-7 (2023)
Abstract Glucose-6-phosphate dehydrogenase (G6PD) deficiency is one of the most common enzymopathies in humans, present in approximately half a billion people worldwide. More than 230 clinically relevant G6PD mutations of different classes have been
Externí odkaz:
https://doaj.org/article/a85cb1b65351446c84414580b584c7c2
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
Publikováno v:
Journal of Personalized Medicine, Vol 14, Iss 6, p 648 (2024)
Large-scale next-generation sequencing (NGS) germline testing is technically feasible today, but variant interpretation represents a major bottleneck in analysis workflows. This includes extensive variant prioritization, annotation, and time-consumin
Externí odkaz:
https://doaj.org/article/3722586b49164fedad407d6675067559
Autor:
Thierry Nouspikel, Jean‐Louis Blouin, Jardena J Puder, Bettina Köhler Ballan, Valerie M Schwitzgebel
Publikováno v:
Journal of Diabetes Investigation, Vol 13, Iss 2, Pp 256-261 (2022)
ABSTRACT Hyperglycemia caused by mutations in the glucokinase gene, GCK, is the most common form of monogenic diabetes. Prenatal diagnosis is important, as it impacts on treatment. This study reports a monogenic non‐invasive prenatal diagnostic (NI
Externí odkaz:
https://doaj.org/article/3ec00bfa9d8543a89ed22d57b37eb57d
Publikováno v:
Frontiers in Oncology, Vol 10 (2020)
Immuno-oncology is an ever growing field that has seen important progress across the spectrum of cancers. Responses can be deep and durable. However, as only a minority of patients respond to checkpoint inhibition, predictive biomarkers are needed. C
Externí odkaz:
https://doaj.org/article/1833d4a3e885445c8ab06cec75a4258e
Autor:
Cynthia Janine Huppermans, Anna Elisabeth Minder, Lukas Frischknecht, Eric Grouzmann, Jean-Louis Blouin, Thierry Nouspikel, Andreas Werner Jehle, Henryk Zulewski
Publikováno v:
Swiss Medical Forum ‒ Schweizerisches Medizin-Forum.
Autor:
Cynthia Janine Huppermans, Anna Elisabeth Minder, Lukas Frischknecht, Eric Grouzmann, Jean-Louis Blouin, Thierry Nouspikel, Andreas Werner Jehle, Henryk Zulewski
Publikováno v:
Forum Médical Suisse ‒ Swiss Medical Forum.
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
Publikováno v:
Schweizerische Ärztezeitung.