Results 71 to 80 of about 311,295 (269)

SPG4 and Dementia: Expanding the Clinical Spectrum

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza   +19 more
wiley   +1 more source

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu   +21 more
wiley   +1 more source

Microenvironmental Reprogramming by 3D Anisotropic Cardiac Extracellular Matrix Induces Nuclear Remodeling and Epigenetic Maturation of Chemically Induced Cardiomyocytes

open access: yesAdvanced Functional Materials, EarlyView.
A 3D anisotropic hydrogel derived from heart extracellular matrix guides cytoskeletal alignment and nuclear remodeling in reprogrammed cardiomyocyte‐like cells. This study reveals how matrix alignment modulates nuclear envelope dynamics and chromatin state, triggering transcriptional and functional maturation.
Seung Ju Seo   +7 more
wiley   +1 more source

Comparative analysis of chloroplast and mitochondrial genomes of sweet potato provides evidence of gene transfer

open access: yesScientific Reports
The increasing number of plant mitochondrial DNA genomes (mtDNA) sequenced reveals the extent of transfer from both chloroplast DNA genomes (cpDNA) and nuclear DNA genomes (nDNA).
GuoLiang Li   +10 more
doaj   +1 more source

MitoIMP: A Computational Framework for Imputation of Missing Data in Low-Coverage Human Mitochondrial Genome

open access: yesBioinformatics and Biology Insights, 2019
The incompleteness of partial human mitochondrial genome sequences makes it difficult to perform relevant comparisons among multiple resources. To deal with this issue, we propose a computational framework for deducing missing nucleotides in the human ...
Koji Ishiya   +3 more
doaj   +1 more source

Lysosome‐Acidifying Nanoparticles Rescue A30P α‐Synuclein Induced Neuronal Death in Cellular and Drosophila Models of Parkinson's Disease

open access: yesAdvanced Healthcare Materials, EarlyView.
Lysosome‐targeted acidic nanoparticles based on a biodegradable poly(ethylene tetrafluorosuccinate‐co‐succinate) copolymer are engineered to restore impaired lysosomal acidification through pH‐responsive intracellular degradation. Localized acid release enhances autophagic proteolysis, reduces α‐synuclein accumulation, and preserves dopaminergic neuron
Chih Hung Lo   +6 more
wiley   +1 more source

Sequencing and phylogenetic analysis of the complete mitochondrial genome of the Eurasian Harvest Mouse (Micromys minutus) Pallas 1771 from China

open access: yesMitochondrial DNA. Part B. Resources
This study aimed to examine the complete mitochondrial genome sequence of the Eurasian Harvest Mouse (Micromys minutus) through polymerase chain reaction. The mitochondrial genome of M.
Hong-Yan Wang   +3 more
doaj   +1 more source

Genome Digging: Insight into the Mitochondrial Genome of Homo

open access: yesPLoS ONE, 2010
A fraction of the Neanderthal mitochondrial genome sequence has a similarity with a 5,839-bp nuclear DNA sequence of mitochondrial origin (numt) on the human chromosome 1. This fact has never been interpreted. Although this phenomenon may be attributed to contamination and mosaic assembly of Neanderthal mtDNA from short sequencing reads, we explain the
Igor V Ovchinnikov, Olga I Kholina
openaire   +4 more sources

Infusible Extracellular Matrix Biomaterial Enhances Cell‐Specific Pro‐Repair Responses Following Acute Myocardial Infarction

open access: yesAdvanced Healthcare Materials, EarlyView.
We measure the cell‐specific responses of administering infusible ECM (iECM) in acute myocardial infarction (MI) across multiple timepoints. Using single‐nucleus RNA sequencing and spatial transcriptomics, we measure macrophage activation, fibroblast remodeling, increased vascular development, lymphangiogenesis, cardioprotection, and neurogenesis ...
Joshua M. Mesfin   +18 more
wiley   +1 more source

Chamber‐Specific Decellularized Extracellular Matrices Differentially Modulate Cardiomyocyte Subtypes to Drive Engineered Heart Tissue Development and Function

open access: yesAdvanced Healthcare Materials, EarlyView.
Chamber‐specific decellularized extracellular matrices (ECMs) were developed, preserving native proteomic profiles of ventricular and atrial myocardium. These innate biochemical cues differentially modulate cardiomyocyte subtypes to drive engineered heart tissue development and function, highlighting the importance of incorporating regional ECM cues in
Dong Gyu Hwang   +7 more
wiley   +1 more source

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