Results 61 to 70 of about 1,858 (192)
We present the implementation of our RIM prototype within a microscopy core facility. We describe the system setup, characterization, and optimization, and, as a proof of concept, we provide biological examples demonstrating the prototype's performance, here in resolving microvilli brush border intestine in adult C. elegans.
Nina Soler +13 more
wiley +1 more source
The CCM1–CCM2 complex controls complementary functions of ROCK1 and ROCK2 that are required for endothelial integrity [PDF]
ABSTRACT Endothelial integrity relies on a mechanical crosstalk between intercellular and cell–matrix interactions. This crosstalk is compromised in hemorrhagic vascular lesions of patients carrying loss-of-function mutations in cerebral cavernous malformation (CCM) genes.
Lisowska, Justyna +15 more
openaire +4 more sources
Fibronectin rescues aberrant phenotype of endothelial cells lacking either CCM1, CCM2 or CCM3.
Loss-of-function variants in CCM1/KRIT1, CCM2, and CCM3/PDCD10 are associated with autosomal dominant cerebral cavernous malformations (CCMs). CRISPR/Cas9-mediated CCM3 inactivation in human endothelial cells (ECs) has been shown to induce profound ...
Strom, T.M. +9 more
core +1 more source
Cerebral cavernous malformations (CCMs) are vascular abnormalities that primarily occur in adulthood and cause cerebral hemorrhage, stroke, and seizures.
Huanjiao Jenny Zhou +10 more
doaj +1 more source
Next-Generation Sequencing Advances the Genetic Diagnosis of Cerebral Cavernous Malformation (CCM)
Cerebral Cavernous Malformation (CCM) is a cerebrovascular disease of genetic origin that predisposes to seizures, focal neurological deficits and fatal intracerebral hemorrhage. It may occur sporadically or in familial forms, segregating as an autosomal
Valerio Benedetti +6 more
doaj +1 more source
Multi‐modal optical imaging reveals microvascular pulsatility in the brain cortex of awake and anaesthetized mice. Awake hemodynamics in male mice are found to be remarkably stable until late life, with flow pulsatility being significantly higher than in females, despite similar average perfusion.
Mia Viuf Skøtt +5 more
wiley +1 more source
A novel CCM1 mutation associated with multiple cerebral and vertebral cavernous malformations [PDF]
Background: Cerebral cavernous malformations are relatively rare vascular disorders that may affect any part of the central nervous system. This presentation has been associated with heterozygous mutations in CCM1/KRIT1, CCM2/malcavernin and CCM3/PDCD10.
D. Ronchi +15 more
core +1 more source
Mutations in the genes KRIT1, CCM2, and PDCD10 are known to result in the formation of cerebral cavernous malformations (CCMs). CCMs are intracranial lesions comprised of aberrantly enlarged cavernous endothelial channels that can result in cerebral ...
Jacob F. Baranoski +2 more
doaj +1 more source
Molecular Diagnosis in a Specialised Neurogenetic Clinic With Access to Whole‐Genome Sequencing
Background Rare diseases, collectively affecting 1 in 17 people in the United Kingdom and Ireland, require coordinated care. Specialised multidisciplinary clinics offer a streamlined approach for diagnosis and management of rare neurogenetic disorders.
Patrick B. Moloney +2 more
wiley +1 more source
Label free super resolution imaging with photonic nanojets from tunable tapered optical fibers
Abstract We demonstrate a label‐free, far‐field super‐resolution imaging approach based on photonic nanojets generated by tapered dielectric fibers. By systematically analyzing the dependence of nanojet confinement and focal distance on cylinder diameter (8–16 μm), we establish a geometric design framework for tunable light localization below the ...
Maya Hen Shor Peled +3 more
wiley +1 more source

