Zobrazeno 1 - 10
of 29
pro vyhledávání: '"Anaı̈s Baudot"'
Autor:
Clara D. M. van Karnebeek, Anne O’Donnell-Luria, Gareth Baynam, Anaïs Baudot, Tudor Groza, Judith J. M. Jans, Timo Lassmann, Mary Catherine V. Letinturier, Stephen B. Montgomery, Peter N. Robinson, Stefaan Sansen, Ruty Mehrian-Shai, Charles Steward, Kenjiro Kosaki, Patricia Durao, Bekim Sadikovic
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-16 (2024)
Abstract Genetic diagnosis plays a crucial role in rare diseases, particularly with the increasing availability of emerging and accessible treatments. The International Rare Diseases Research Consortium (IRDiRC) has set its primary goal as: “Ensuri
Externí odkaz:
https://doaj.org/article/669290e2ed32488ea080f09a5a972315
Autor:
Jumamurat R. Bayjanov, Cenna Doornbos, Ozan Ozisik, Woosub Shin, Núria Queralt-Rosinach, Daphne Wijnbergen, Jean-Sébastien Saulnier-Blache, Joost P. Schanstra, Bénédicte Buffin-Meyer, Julie Klein, José M. Fernández, Rajaram Kaliyaperumal, Anaïs Baudot, Peter A. C. ’t Hoen, Friederike Ehrhart
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-12 (2024)
Abstract Congenital Anomalies of the Kidney and Urinary Tract (CAKUT) is the leading cause of childhood chronic kidney failure and a significant cause of chronic kidney disease in adults. Genetic and environmental factors are known to influence CAKUT
Externí odkaz:
https://doaj.org/article/2a843009b02340a58dc09c8c3a8c4ed7
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-10 (2024)
Abstract Muscular dystrophies (MDs) are inherited genetic diseases causing weakness and degeneration of muscles. The distribution of muscle weakness differs between MDs, involving distal muscles or proximal muscles. While the mutations in most of the
Externí odkaz:
https://doaj.org/article/0e56696c26d047e4ac070b18adefc3e4
Publikováno v:
BMC Bioinformatics, Vol 25, Iss 1, Pp 1-19 (2024)
Abstract Background Biological networks have proven invaluable ability for representing biological knowledge. Multilayer networks, which gather different types of nodes and edges in multiplex, heterogeneous and bipartite networks, provide a natural w
Externí odkaz:
https://doaj.org/article/9f1e34c21ed543a08beaa9d321659347
Publikováno v:
SoftwareX, Vol 26, Iss , Pp 101701- (2024)
Environmental factors are external conditions that can affect the health of living organisms. For a number of rare genetic diseases, an interplay between genetic and environmental factors is known or suspected. However, the studies are limited by the
Externí odkaz:
https://doaj.org/article/ef1592731ecb4a76873c40929c1cb9a5
Publikováno v:
EMBO Molecular Medicine, Vol 15, Iss 7, Pp 1-19 (2023)
Abstract Giant axonal neuropathy (GAN) is a fatal neurodegenerative disorder for which there is currently no treatment. Affecting the nervous system, GAN starts in infancy with motor deficits that rapidly evolve toward total loss of ambulation. Using
Externí odkaz:
https://doaj.org/article/e65f099e7b7d4a7eb50038ba56f7b508
Publikováno v:
BMC Bioinformatics, Vol 23, Iss 1, Pp 1-12 (2022)
Abstract Background Enrichment analyses are widely applied to investigate lists of genes of interest. However, such analyses often result in long lists of annotation terms with high redundancy, making the interpretation and reporting difficult. Long
Externí odkaz:
https://doaj.org/article/ac185b7f653e405eafeb8c666163e9b8
Publikováno v:
Communications Physics, Vol 5, Iss 1, Pp 1-9 (2022)
With the amount of data available growing at exponential rates, methods based on networks have become a key tool for their investigation. The authors propose a framework to the study multilayer networks using a random walks with restart (RWR) method,
Externí odkaz:
https://doaj.org/article/74101f989ec14b688d6ea3cfde7c6f9b
Autor:
Camille Laberthonnière, Elva‐Maria Novoa‐del‐Toro, Mégane Delourme, Raphaël Chevalier, Natacha Broucqsault, Kilian Mazaleyrat, Nathalie Streichenberger, Véronique Manel, Rafaëlle Bernard, Emmanuelle Salort Campana, Shahram Attarian, Karine Nguyen, Jérôme D. Robin, Anais Baudot, Frédérique Magdinier
Publikováno v:
Journal of Cachexia, Sarcopenia and Muscle, Vol 13, Iss 1, Pp 621-635 (2022)
Abstract Background Facioscapulohumeral dystrophy (FSHD) is a late‐onset autosomal dominant form of muscular dystrophy involving specific groups of muscles with variable weakness that precedes inflammatory response, fat infiltration, and muscle atr
Externí odkaz:
https://doaj.org/article/8f932ee1e4384c53a16531a5f4c02563
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-20 (2021)
Abstract Network embedding approaches are gaining momentum to analyse a large variety of networks. Indeed, these approaches have demonstrated their effectiveness in tasks such as community detection, node classification, and link prediction. However,
Externí odkaz:
https://doaj.org/article/8ad03b7ac4f64e018d34f0f53b0b45b0