Prevalence of BRCA homopolymeric indels in an ION Torrent-based tumour-to-germline testing workflow in high-grade ovarian carcinoma

Autor: Jacopo Azzollini, Luca Agnelli, Elena Conca, Tommaso Torelli, Adele Busico, Iolanda Capone, Marta Angelini, Elena Tamborini, Federica Perrone, Andrea Vingiani, Daniele Lorenzini, Bernard Peissel, Giancarlo Pruneri, Siranoush Manoukian

Publikováno v: Scientific Reports, Vol 13, Iss 1, Pp 1-9 (2023)

Abstract Tumour DNA sequencing is essential for precision medicine since it guides therapeutic decisions but also fosters the identification of patients who may benefit from germline testing. Notwithstanding, the tumour-to-germline testing workflow p

Externí odkaz: https://doaj.org/article/1201518e80a843888ac0f10a86f7d812

Présentation

Autor: Gilles Brougère, Sébastien Genvo, Bernard Perron

Publikováno v: Sciences du Jeu, Vol 20 (2023)

Externí odkaz: https://doaj.org/article/cf2675ac2cea41fa916443373ea6785c

Microbial taxa related to natural hydrogen and methane emissions in serpentinite-hosted hyperalkaline springs of New Caledonia

Autor: Marianne Quéméneur, Nan Mei, Christophe Monnin, Anne Postec, Sophie Guasco, Julie Jeanpert, Pierre Maurizot, Bernard Pelletier, Gaël Erauso

Publikováno v: Frontiers in Microbiology, Vol 14 (2023)

The southeastern part of New Caledonia main island (Grande Terre) is the location of a large ophiolitic formation that hosts several hyperalkaline springs discharging high pH (∼11) and warm (

Externí odkaz: https://doaj.org/article/4f4f0fbf8e844d9caf6a8ea9213354f3

Gene expression signature predicts rate of type 1 diabetes progressionResearch in context

Autor: Tomi Suomi, Inna Starskaia, Ubaid Ullah Kalim, Omid Rasool, Maria K. Jaakkola, Toni Grönroos, Tommi Välikangas, Caroline Brorsson, Gianluca Mazzoni, Sylvaine Bruggraber, Lut Overbergh, David Dunger, Mark Peakman, Piotr Chmura, Søren Brunak, Anke M. Schulte, Chantal Mathieu, Mikael Knip, Riitta Lahesmaa, Laura L. Elo, Pieter Gillard, Kristina Casteels, Lutgart Overbergh, Chris Wallace, Mark Evans, Ajay Thankamony, Emile Hendriks, Loredana Marcoveccchio, Timothy Tree, Noel G. Morgan, Sarah Richardson, John A. Todd, Linda Wicker, Adrian Mander, Colin Dayan, Mohammad Alhadj Ali, Thomas Pieber, Decio L. Eizirik, Myriam Cnop, Flemming Pociot, Jesper Johannesen, Peter Rossing, Cristina Legido Quigley, Roberto Mallone, Raphael Scharfmann, Christian Boitard, Timo Otonkoski, Riitta Veijola, Matej Oresic, Jorma Toppari, Thomas Danne, Anette G. Ziegler, Peter Achenbach, Teresa Rodriguez-Calvo, Michele Solimena, Ezio E. Bonifacio, Stephan Speier, Reinhard Holl, Francesco Dotta, Francesco Chiarelli, Piero Marchetti, Emanuele Bosi, Stefano Cianfarani, Paolo Ciampalini, Carine De Beaufort, Knut Dahl-Jørgensen, Torild Skrivarhaug, Geir Joner, Lars Krogvold, Przemka Jarosz-Chobot, Tadej Battelino, Bernard Thorens, Martin Gotthardt, Bart O. Roep, Tanja Nikolic, Arnaud Zaldumbide, Ake Lernmark, Marcus Lundgren, Guillaume Costacalde, Thorsten Strube, Almut Nitsche, Jose Vela, Matthias Von Herrath, Johnna Wesley, Antonella Napolitano-Rosen, Melissa Thomas, Nanette Schloot, Allison Goldfine, Frank Waldron-Lynch, Jill Kompa, Aruna Vedala, Nicole Hartmann, Gwenaelle Nicolas, Jean van Rampelbergh, Nicolas Bovy, Sanjoy Dutta, Jeannette Soderberg, Simi Ahmed, Frank Martin, Esther Latres, Gina Agiostratidou, Anne Koralova, Ruben Willemsen, Anne Smith, Binu Anand, Vipan Datta, Vijith Puthi, Sagen Zac-Varghese, Renuka Dias, Premkumar Sundaram, Bijay Vaidya, Catherine Patterson, Katharine Owen, Barbara Piel, Simon Heller, Tabitha Randell, Tasso Gazis, Elise Bismuth Reismen, Jean-Claude Carel, Jean-Pierre Riveline, Jean-Francoise Gautier, Fabrizion Andreelli, Florence Travert, Emmanuel Cosson, Alfred Penfornis, Catherine Petit, Bruno Feve, Nadine Lucidarme, Jean-Paul Beressi, Catherina Ajzenman, Alina Radu, Stephanie Greteau-Hamoumou, Cecile Bibal, Thomas Meissner, Bettina Heidtmann, Sonia Toni, Birgit Rami-Merhar, Bart Eeckhout, Bernard Peene, N. Vantongerloo, Toon Maes, Leen Gommers

Publikováno v: EBioMedicine, Vol 92, Iss , Pp 104625- (2023)

Summary: Background: Type 1 diabetes is a complex heterogenous autoimmune disease without therapeutic interventions available to prevent or reverse the disease. This study aimed to identify transcriptional changes associated with the disease progress

Externí odkaz: https://doaj.org/article/2c41bdea112542e1901b5cf0742fc2e4

Combining data to perform population-based observational studies: know your sources. The case of thyroid cancer in Belgium

Autor: Brigitte Decallonne, Bérengère Snyers, Nathalie Elaut, Bernard Peene, Julie Verbeeck, Annick Van den Bruel, Harlinde De Schutter

Publikováno v: Archives of Public Health, Vol 80, Iss 1, Pp 1-9 (2022)

Abstract Background Large scale observational studies are crucial to study thyroid cancer incidence and management, known to vary in time and place. Combining cancer registry data with other data sources enables execution of population-based studies,

Externí odkaz: https://doaj.org/article/fc27fb82f3544b3fbdfd76ae6908809c