Results 151 to 160 of about 1,562,582 (397)

Chronological and Spatial Distribution of Skeletal Muscle Fat Replacement in FHL1‐Related Myopathies

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
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]

open access: bronze, 1998
Renata Kozyraki   +7 more
openalex   +1 more source

Building a eukaryotic chromosome arm by de novo design and synthesis [PDF]

open access: gold, 2023
Shuangying Jiang   +23 more
openalex   +1 more source

Discovery and Targeted Proteomic Studies Reveal Striatal Markers Validated for Huntington's Disease

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
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

A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes

open access: yesCell, 1993
M. MacDonald   +57 more
semanticscholar   +1 more source

Condiciones óptimas de cultivo de linfocitos y análisis parcial del cariotipo de la tortuga cabezona, Caretta caretta (Testudines: Cheloniidae) en Santa Marta, Caribe Colombiano

open access: yesRevista de Biología Tropical, 2008
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  

The CENP-F-like Proteins HCP-1 and HCP-2 Target CLASP to Kinetochores to Mediate Chromosome Segregation [PDF]

open access: bronze, 2005
Iain M. Cheeseman   +4 more
openalex   +1 more source

LOXHD1 and RHOB Expression by Monocytes Predicts Progressive Systemic Sclerosis associated Interstitial Lung Disease

open access: yesArthritis Care &Research, Accepted Article.
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

open access: yesScience, 2016
Siyuan S Wang   +6 more
semanticscholar   +1 more source

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