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
The Human Intrinsic Factor-Vitamin B12 Receptor,Cubilin: Molecular Characterization and Chromosomal Mapping of the Gene to 10p Within the Autosomal Recessive Megaloblastic Anemia (MGA1) Region [PDF]
Renata Kozyraki +7 more
openalex +1 more source
Building a eukaryotic chromosome arm by de novo design and synthesis [PDF]
Shuangying Jiang +23 more
openalex +1 more source
Discovery and Targeted Proteomic Studies Reveal Striatal Markers Validated for Huntington's Disease
ABSTRACT Objective Clinical trials for Huntington's disease (HD) enrolling persons before clinical motor diagnosis (CMD) lack validated biomarkers. This study aimed to conduct an unbiased discovery analysis and a targeted examination of proteomic biomarkers scrutinized by clinical validation. Methods Cerebrospinal fluid was obtained from PREDICT‐HD and
Daniel Chelsky +8 more
wiley +1 more source
En los últimos años se ha registrado una disminución importante en el número de individuos de la tortuga marina Caretta caretta anidantes en el Caribe colombiano, situación que pone en evidencia la posibilidad de su extinción a mediano plazo.
Ellie Ann López +2 more
doaj
Phosphorylation-induced Rearrangement of the Histone H3 NH2-terminal Domain during Mitotic Chromosome Condensation [PDF]
Debra M. Sauvé +4 more
openalex +1 more source
The CENP-F-like Proteins HCP-1 and HCP-2 Target CLASP to Kinetochores to Mediate Chromosome Segregation [PDF]
Iain M. Cheeseman +4 more
openalex +1 more source
Objective A leading cause of death among scleroderma (SSc) patients, interstitial lung disease (ILD) remains challenging to prognosticate. The discovery of biomarkers that accurately determine which patients would benefit from close monitoring and aggressive therapy would be an essential clinical tool.
Cristina M Padilla +13 more
wiley +1 more source
Spatial organization of chromatin domains and compartments in single chromosomes
Siyuan S Wang +6 more
semanticscholar +1 more source

