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
Correction: Geng et al. Identification of New Cultivar and Different Provenances of <i>Dendrocalamus brandisii</i> (Poaceae: Bambusoideae) Using Simple Sequence Repeats Developed from the Whole Genome. <i>Plants</i> 2024, <i>13</i>, 2910. [PDF]
Geng R+6 more
europepmc +1 more source
Military Service Roles and ALS Among Veterans: A Matched Case–Control Study
ABSTRACT While military service is an established risk factor for amyotrophic lateral sclerosis (ALS), it remains unclear whether this association is linked to combat. We conducted a matched case–control study comparing 191 ALS patients who were veterans of the Israeli Defense Forces (IDF) with known military service type and 1910 matched controls. The
Asaf Honig+4 more
wiley +1 more source
Understanding the cellular and molecular heterogeneity in colorectal cancer through the use of single-cell RNA sequencing. [PDF]
Chen Y, Huang J, Fan Y, Huang L, Cai X.
europepmc +1 more source
Pathway Analyses of Inherited Neuropathies Identify Putative Common Mechanisms of Axon Degeneration
ABSTRACT Objective Inherited neuropathies (IN) are associated with over 100 different genetic mutations presenting with a variety of phenotypes. This complexity suggests multiple pathways may converge onto a limited number of downstream pathways to effect axonal injury.
Christopher R. Cashman+2 more
wiley +1 more source
Identification of functional SNP associated with sperm quality in porcine <i>ANXA5</i> that contributes to the growth of immature Sertoli cell. [PDF]
Han M+9 more
europepmc +1 more source
Objective Posttraumatic osteoarthritis (PTOA) accounts for nearly 12% of osteoarthritis incidences and often occurs after anterior cruciate ligament (ACL) tear. Ensuring the uptake of preventive treatments for PTOA requires that investigators and clinicians understand factors influencing patients to seek preventive therapies.
Lily M. Waddell+10 more
wiley +1 more source
Molecular basis of autism spectrum disorders. [PDF]
Desai R, Reddy S, Truong M, Thankam FG.
europepmc +1 more source
Objective Promoting Resilience in Stress Management (PRISM) is a resilience coaching program designed for adolescents with chronic illness. We aimed to examine the perceived feasibility, acceptability, and appropriateness of PRISM among pediatric rheumatologists treating adolescents with chronic musculoskeletal pain and obtain recommendations for ...
Sabrina Gmuca+9 more
wiley +1 more source
Integrative multi-omics identifies AP-1 transcription factor as a targetable mediator of acquired osimertinib resistance in non-small cell lung cancer. [PDF]
Dayanc B+8 more
europepmc +1 more source