Results 61 to 70 of about 365,728 (264)

Small RNA pathways in mammalian oocytes

open access: yesFEBS Open Bio, EarlyView.
Three distinct small RNA pathways operate in mammalian oocytes: RNAi interference (RNAi), the microRNA (miRNA) pathway, and the PIWI‐associated RNA (piRNA) pathway. These pathways use small RNAs to guide sequence‐specific repression and contribute to oocyte biology by targeting genes and mobile elements or appear insignificant since different ...
Petr Svoboda, Josef Pasulka
wiley   +1 more source

Fine tuning the extracellular environment accelerates the derivation of kidney organoids from human pluripotent stem cells

open access: yesNature Materials, 2019
The generation of organoids is one of the biggest scientific advances in regenerative medicine. Here, by lengthening the time that human pluripotent stem cells (hPSCs) were exposed to a three-dimensional microenvironment, and by applying defined renal ...
E. Garreta   +14 more
semanticscholar   +1 more source

From energy provision to protein synthesis: Tunnelling nanotubes as mediators of intercellular metabolic cooperation in cancer

open access: yesFEBS Open Bio, EarlyView.
The cytoskeleton‐mediated transport of mitochondria via tunnelling nanotubes restores respiration, increases ATP production, rescues cells from apoptosis, activates the AKT/mTOR signalling pathway, promotes cell migration and invasiveness, contributes to cancer progression and treatment resistance.
Stanislava Martínková, Jan Trnka
wiley   +1 more source

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi   +2 more
wiley   +1 more source

Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz   +3 more
wiley   +1 more source

A Human Skeletal Muscle Atlas Identifies the Trajectories of Stem and Progenitor Cells across Development and from Human Pluripotent Stem Cells.

open access: yesCell Stem Cell, 2020
The developmental trajectory of human skeletal myogenesis and the transition between progenitor and stem cell states are unclear. We used single-cell RNA sequencing to profile human skeletal muscle tissues from embryonic, fetal, and postnatal stages.
Haibin Xi   +16 more
semanticscholar   +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

Efficient derivation of microglia-like cells from human pluripotent stem cells

open access: yesNature Medicine, 2016
Microglia, the only lifelong resident immune cells of the central nervous system (CNS), are highly specialized macrophages that have been recognized to have a crucial role in neurodegenerative diseases such as Alzheimer's, Parkinson's and ...
J. Muffat   +10 more
semanticscholar   +1 more source

IN4MER Biomaterial Ink: A Phosphorescent Biosensing Biomaterial Ink for Multiple Analytes (Glucose, Lactate, Oxygen) Measurements and Temperature Sensing Applications

open access: yesAdvanced Functional Materials, EarlyView.
Multianalyte, real‐time monitoring of bioprinted scaffolds remains challenging. Phosphorescence‐lifetime–based, optically responsive microparticles are embedded in diverse printable hydrogels (κ‐carrageenan, GelMA, PEGDA) to form biomaterial inks that report oxygen, glucose, lactate, and temperature.
Waqas Saleem   +11 more
wiley   +1 more source

Induced Pluripotent Stem Cells and Human Disease [PDF]

open access: yesCell Stem Cell, 2008
Two recent studies report the generation of induced pluripotent stem cells from patients presenting with a total of eleven different diseases (Park et al., 2008; Dimos et al., 2008). Future differentiation studies using these lines may offer insight on specific disease pathophysiology and aid the design of protective drug therapies.
openaire   +2 more sources

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