Results 141 to 150 of about 280,000 (306)
Bioinformatic methods for eukaryotic RNA-Seq-based promoter identification [PDF]
, 2014 Jakobi T. Bioinformatic methods for eukaryotic RNA-Seq-based promoter identification.
Jakobi, Tobias
core
Bi‐ and Mono‐Allelic RFC1 Expansion in a North American Cohort With Idiopathic Axonal Neuropathy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective RFC1 biallelic repeat expansion is increasingly recognized as a cause of chronic idiopathic axonal polyneuropathy (CIAP), but it remains challenging to know who to test. This study aims to determine the prevalence of biallelic and monoallelic RFC1 expansions and their corresponding neuropathy phenotypes in CIAP patients and identify ...
Amro M. Stino +25 more
wiley +1 more source
Schematic of the bioinformatic workflow used in this study.
Schematic of the bioinformatic workflow used in this study.
Richard J. Whittington (10690380) +4 more
core +1 more source
AI Mag., 2004 This article is an editorial introduction to the research discipline of bioinformatics and to the articles in this special issue. In particular, we address the issue of how techniques from AI can be applied to many of the open and complex problems of modern-day molecular biology.
Glasgow, Janice +2 more
openaire +2 more sources
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective The prognosis of glioblastoma (GBM) remains highly unfavorable, largely due to high tumor heterogeneity and an immunosuppressive microenvironment. However, the functional role of PANoptosis in this context is poorly understood. Methods Patients were stratified via K‐means clustering. A risk score model was constructed using prognosis‐
Langfei Tian +6 more
wiley +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
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To identify inflammatory analytes in cerebrospinal fluid (CSF) and plasma associated with cognitive decline in cognitively normal (CN) older adults at risk for Alzheimer's disease (AD). Methods In a longitudinal study of 118 CN older adults (65–80 years, 54% APOE ε4, 26% preclinical AD), 1331 CSF and 1501 plasma analytes were ...
Jagan A. Pillai +13 more
wiley +1 more source
Introducing bioinformatics [PDF]
The Journal of Laryngology & Otology, 2014 Robin, Youngs, Edward, Fisher
openaire +2 more sources
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
BOE202 – Introduction to Bioinformatic (Pengenalan kepada Bioinformatik) [PDF]
Second Semester Examination 2023/2024 Academic Session July/August 2024 BOE202 – Introduction to Bioinformatic (Pengenalan kepada Bioinformatik) Duration : 2 hours (Masa : 2 ...
PPSKJ, Pusat Pengajian Sains Kajihayat
core +3 more sources