Results 31 to 40 of about 964,159 (277)

A new targeted CFTR mutation panel based on next-generation sequencing technology [PDF]

, 2017
Searching for mutations in the cystic fibrosis transmembrane conductance regulator gene (CFTR) is a key step in the diagnosis of and neonatal and carrier screening for cystic fibrosis (CF), and it has implications for prognosis and personalized therapy ...
Alberti, Luisella, Biffignandi, Alice, Bruno, Sabina Maria, Colombo, Carla, Corbetta, Carlo, Costantino, Lucy, Giannone, Valentina, Lucarelli, Marco, Porcaro, Luigi, Seia, Manuela, Torresani, Erminio   +10 more
core   +2 more sources

Defining Culture Conditions for the Hidden Nitrite-Oxidizing Bacterium Nitrolancea

Frontiers in Microbiology, 2020
Nitrification is a key process for N-removal in engineered and natural environments, but recent findings of novel nitrifying microorganisms with surprising features revealed that our knowledge of this functional guild is still incomplete.
Eva Spieck, Katharina Sass, Sabine Keuter, Sophia Hirschmann, Michael Spohn, Daniela Indenbirken, Linnea F. M. Kop, Sebastian Lücker, Alejandra Giaveno   +8 more
doaj   +1 more source

Neuroinflammation regulates the balance between hippocampal neuron death and neurogenesis in an ex vivo model of thiamine deficiency

Journal of Neuroinflammation, 2022
Background Thiamine (vitamin B1) is a cofactor for enzymes of central energy metabolism and its deficiency (TD) impairs oxidative phosphorylation, increases oxidative stress, and activates inflammatory processes that can lead to neurodegeneration ...
Larissa M. G. Cassiano, Marina S. Oliveira, Jeanne Pioline, Anna C. M. Salim, Roney S. Coimbra   +4 more
doaj   +1 more source

Target enrichment using parallel nanoliter quantitative PCR amplification [PDF]

, 2014
Background: Next generation targeted resequencing is replacing Sanger sequencing at high pace in routine genetic diagnosis. The need for well validated, high quality enrichment platforms to complement the bench-top next generation sequencing devices is ...
De Wilde, Bram, Derveaux, Stefaan, Dong, Wes, Dunne, Jude, Hellemans, Jan, Husain, Syed, Lefever, Steve, Vandesompele, Jo   +7 more
core   +2 more sources

The Evolution of Post-Vaccine G8P[4] Group a Rotavirus Strains in Rwanda; Notable Variance at the Neutralization Epitope Sites

Pathogens, 2023
Africa has a high level of genetic diversity of rotavirus strains, which is suggested to be a possible reason contributing to the suboptimal effectiveness of rotavirus vaccines in this region.
Peter N. Mwangi, Robyn-Lee Potgieter, Jeannine Uwimana, Leon Mutesa, Narcisse Muganga, Didier Murenzi, Lisine Tusiyenge, Jason M. Mwenda, Milton T. Mogotsi, Kebareng Rakau, Mathew D. Esona, A. Duncan Steele, Mapaseka L. Seheri, Martin M. Nyaga   +13 more
doaj   +1 more source

Clustering and Alignment of Polymorphic Sequences for HLA-DRB1 Genotyping [PDF]

, 2013
Located on Chromosome 6p21, classical human leukocyte antigen genes are highly polymorphic. HLA alleles associate with a variety of phenotypes, such as narcolepsy, autoimmunity, as well as immunologic response to infectious disease.
A McKenna, A van Dijk, AA Rossini, AK Lancaster, C Gabriel, C Karanes, C Lind, C Wang, CE Voorter, CL Holcomb, G Bentley, Gaia Bellone, Gualtiero Colombo, H Erlich, J Ng, J Richards, J Robinson, JM Rothberg, JP Achkar, Kathryn Roeder, KK Ballen, L Becquemont, L Breiman, M Hamady, M Maiers, Massimo Trucco, RL Erlich, S Kurtz, S Lafon, SA Dunbar, SM Lank, SM Lank, Steven Ringquist, T Shiina, T Shiina, Ying Lu   +35 more
core   +3 more sources

BATCH-GE : batch analysis of next-generation sequencing data for genome editing assessment [PDF]

, 2016
Targeted mutagenesis by the CRISPR/Cas9 system is currently revolutionizing genetics. The ease of this technique has enabled genome engineering in-vitro and in a range of model organisms and has pushed experimental dimensions to unprecedented proportions.
Boel, Annekatrien, Callewaert, Bert, Coucke, Paul, De Paepe, Anne, De Rocker, Nina, Menten, Björn, Steyaert, Wouter, Willaert, Andy   +7 more
core   +2 more sources

Suppressing gain-of-function proteins via CRISPR/Cas9 system in SCA1 cells

Scientific Reports, 2022
SCAs are autosomal dominant neurodegenerative disorders caused by a gain-of-function protein with toxic activities, containing an expanded polyQ tract in the coding region.
Mariangela Pappadà, Ottavia Bonuccelli, Mattia Buratto, Riccardo Fontana, Mariaconcetta Sicurella, Anna Caproni, Silvia Fuselli, Andrea Benazzo, Roberto Bertorelli, Veronica De Sanctis, Paolo Cavallerio, Valentina Simioni, Valeria Tugnoli, Francesca Salvatori, Peggy Marconi   +14 more
doaj   +1 more source

Base calling for high-throughput short-read sequencing: dynamic programming solutions [PDF]

, 2013
Shreepriya Das and Haris Vikalo are with the Electrical and Computer Engineering Department, The University of Texas at Austin, Austin, Texas 78712, USABackground: Next-generation DNA sequencing platforms are capable of generating millions of reads in ...
Das, Shreepriya, Vikalo, Haris
core   +3 more sources

High Detection Frequency of Vaccine-Associated Polioviruses and Non-Polio Enteroviruses in the Stools of Asymptomatic Infants from the Free State Province, South Africa

Microorganisms
Enterovirus (EV) infections are widespread and associated with a range of clinical conditions, from encephalitis to meningitis, gastroenteritis, and acute flaccid paralysis.
Milton T. Mogotsi, Ayodeji E. Ogunbayo, Hester G. O’Neill, Martin M. Nyaga   +3 more
doaj   +1 more source