Results 91 to 100 of about 1,964,998 (260)
Removing noise from pyrosequenced amplicons [PDF]
, 2011 <b>Background</b><p></p> In many environmental genomics applications a homologous region of DNA from a diverse sample is first amplified by PCR and then sequenced.
Quince, Christopher +41 more
core +1 more source
Augmenting and Assaying Nav1.1 Protein Quantity for Dravet Syndrome Therapy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Dravet Syndrome (DS) is a developmental and epileptic encephalopathy predominantly caused by heterozygous loss‐of‐function variants in SCN1A, which encodes Nav1.1. Conserved upstream open reading frames (uORFs) in SCN1A were validated to regulate translation in reporter assays, demonstrating the therapeutic viability of increasing Nav1.1 from ...
Aiswarya Saravanan +7 more
wiley +1 more source
, 2018 Summary sequence data from a single Illumina run (several runs were performed for different antibodies).
Michał T. Lorenc (3775852) +5 more
core +1 more source
Special features of RAD Sequencing data:implications for genotyping [PDF]
, 2012 Restriction site-associated DNA Sequencing (RAD-Seq) is an economical and efficient method for SNP discovery and genotyping. As with other sequencing-by-synthesis methods, RAD-Seq produces stochastic count data and requires sensitive analysis to develop ...
Fuentes-Utrilla, Pablo +12 more
core +1 more source
Generalized Dystonia With Cervical Predominance in a Patient With a De Novo TCF20 Variant
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT TCF20 has been implicated in developmental delay and intellectual disability, with dystonia reported less frequently. We describe a woman in her early twenties with childhood‐onset learning difficulties, progressive dysarthria, tremor, and generalized dystonia with marked cervical predominance, associated with a de novo TCF20 frameshift ...
Melisa Kilic +7 more
wiley +1 more source
Sequence statistics of the Illumina deep sequencing of Chilo suppressalis larvae transcriptome.
, 2013 Sequence statistics of the Illumina deep sequencing of Chilo suppressalis larvae transcriptome.
Fang-Da Sun (462257) +7 more
core +1 more source
Juvenile Huntington Disease With Cerebellar‐Predominant Atrophy Identified by Genome Sequencing
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Juvenile Huntington disease accounts for a small fraction of Huntington disease cases and is driven by the largest trinucleotide repeat expansions. We describe a 6‐year‐old boy with progressive global regression, generalized dystonia, and epilepsy, in whom serial imaging showed striking cerebellar‐predominant atrophy with an initially normal ...
Enrique Gonzalez Saez‐Diez +5 more
wiley +1 more source
Complete Genome Assemblies of the Rare Salmonella enterica Serovar Adjame Using Nanopore and Illumina Sequence Reads. [PDF]
Microbiol Resour Announc, 2020 Gao R +4 more
europepmc +1 more source
Advanced Functional Materials, EarlyView.This study presents a magneto‐mechanical strategy that incorporates FP@MSCs into an aligned PCL/GelMA nerve guidance conduit. Magnetic stimulation increases membrane tension in FP@MSCs, triggering cytoskeletal remodeling, Schwann cell‐like differentiation, and TIMP1 secretion. TIMP1 activates ITGB1/CD63–FAK signaling in NE‐4C cells, increasing membrane
Xinyu Zhu +14 more
wiley +1 more source
Lake Tanganyika eDNA Metabarcoding Study: Illumina MiSeq Raw Sequence Data
, 2019 Raw sequence data for three Illumina Miseq runs that were used within: Doble C. J, Hipperson H, Salzburger W, Horsburgh G, Mwita C, Murrell D. J and Day J. J.
Helen Hipperson (2797600) +6 more
core +1 more source