Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases
ABSTRACT Objective Approximately half of patients with hereditary myopathies remain without a definitive genetic diagnosis after DNA next‐generation sequencing (NGS). Here, we implemented transcriptome analysis of muscle biopsies as a complementary diagnostic tool for patients with muscle disease but no definitive genetic diagnosis after exome ...
Alba Segarra‐Casas+24 more
wiley +1 more source
An optimized toolkit for high-molecular-weight DNA extraction and ultra-long-read nanopore sequencing using glass beads and hexamminecobalt(III) chloride. [PDF]
Cahyani I+6 more
europepmc +1 more source
Medical Library Association Handbook of Medical Library Practice with a Bibliography of the Reference Works and Histories in Medicine and the Allied Sciences [PDF]
openalex +1 more source
MDTraj: a modern, open library for the analysis of molecular dynamics trajectories
R. McGibbon+8 more
semanticscholar +1 more source
Whole‐Blood RNA Sequencing Profiling of Patients With Rheumatoid Arthritis Treated With Tofacitinib
Objective Patients with rheumatoid arthritis (RA) often fail to respond to therapies, including JAK inhibitors (JAKi), and treatment allocation is made via a trial‐and‐error strategy. A comprehensive analysis of responses to JAKi, including tofacitinib, by RNA sequencing (RNAseq) would allow the discovery of transcriptomic markers with a two‐fold ...
Chiara Bellocchi+11 more
wiley +1 more source
Construction of a comprehensive library of repeated sequences for the annotation of Citrus genomes. [PDF]
Giraud D+10 more
europepmc +1 more source
Ancient Egyptian Medicine: [A Bibliographical Demonstration in the Library of the Faculty of Physicians and Surgeons, Glasgow, January 12th, 1893.] [PDF]
J. Finlayson
openalex +1 more source
The axolotl's remarkable regenerative abilities decline with age, the causes may include the numerous repetitive elements within its genome. This study uncovers how Ty3 retrotransposons and coexpression networks involving muscle and immune pathways respond to aging and regeneration, suggesting that transposons respond to physiological shifts and may ...
Samuel Ruiz‐Pérez+8 more
wiley +1 more source