ABSTRACT Objective Facioscapulohumeral muscular dystrophy type 1 (FSHD1) is a progressive neuromuscular disorder with no approved treatments. Identifying reliable biomarkers is critical to monitor disease severity, activity, and progression. Interleukin‐6 (IL‐6) has been proposed as a candidate biomarker, but longitudinal validation is limited ...
Jonathan Pini +13 more
wiley +1 more source
Are chromosome number and genome size associated with habit and environmental niche variables? Insights from the Neotropical orchids. [PDF]
Moraes AP +5 more
europepmc +1 more source
Molecular studies of Arabidopsis and Brassica with focus on resistance to Leptosphaeria maculans [PDF]
Blackleg caused by Leptosphaeria maculans is a widespread fungal disease on B~assica napus (oilseed rape). In contrast, Arabidopsis thaliana and B. nigra are in general highly resistant. This study presents results from genomic interaction between the A.
Bohman, Svante
core
ABSTRACT Background Neurodegeneration with brain iron accumulation (NBIA) comprises a genetically and clinically heterogeneous group of rare neurological disorders characterized particularly by iron accumulation in the basal ganglia. To date, 15 genes have been associated with NBIA.
Seda Susgun +95 more
wiley +1 more source
Chromosome Number, Ploidy Level, and Nuclear DNA Content in 23 Species of Echeveria (Crassulaceae). [PDF]
Palomino G +5 more
europepmc +1 more source
Influence of a Heavy-Metal-Polluted Environment on Viola tricolor Genome Size and Chromosome Number [PDF]
Aneta Słomka +4 more
openalex +1 more source
Copy Number Variants and Their Association With Intracerebral Hemorrhage Risk: A Case–Control Study
ABSTRACT Introduction Intracerebral Hemorrhage (ICH) is a leading cause of morbidity and mortality worldwide and lacks effective therapeutic interventions. Despite previous studies, the genetic underpinnings of ICH remain poorly understood. We sought to investigate the role of copy number variants (CNVs) in ICH pathophysiology to identify novel ...
Savvina Prapiadou +12 more
wiley +1 more source
Genome Size and Chromosome Number Evaluation of Astragalus L. sect. Hymenostegis Bunge (Fabaceae). [PDF]
Bagheri A +3 more
europepmc +1 more source
Fluorescence in situ hybridization in sugarcane or fish-ing in the genomic wilderness. [MO06] [PDF]
Cytogenetics applied to sugarcane has brought our fundamental understanding of the sugarcane genome to a new level. In the mid-nineties, Genomic in situ Hybridisation (GISH) was first applied to sugarcane to determine the specific composition of the ...
Aitken, Karen S. +2 more
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Chronological and Spatial Distribution of Skeletal Muscle Fat Replacement in FHL1‐Related Myopathies
ABSTRACT Objectives Variants in the FHL1 gene cause FHL1‐related myopathies (FHL1‐RMs), a group of neuromuscular disorders with diverse clinical presentations. This study aimed to comprehensively characterize the spatial and temporal patterns of skeletal muscle fat replacement throughout the whole body in FHL1‐RMs, to examine disease progression over ...
Rui Shimazaki +8 more
wiley +1 more source

