Results 51 to 60 of about 3,591 (208)
Novel KRIT1/CCM1 mutation in a patient with retinal cavernous hemangioma and cerebral cavernous malformation [PDF]
Retinal cavernous hemangiomas are rare vascular anomalies, and can be associated with cerebral cavernous malformations (CCM). Distinct mutations have been reported in patients who have both CCMs and retinal cavernous hemangiomas. Fluorescein angiography,
Shantan Reddy +4 more
core +2 more sources
Rap1 and its effector KRIT1/CCM1 regulate β-catenin signaling [PDF]
SUMMARYKRIT1, also called CCM1, is a member of a multiprotein complex that contains the products of the CCM2 and PDCD10 (also known as CCM3) loci. Heterozygous loss of any of the genes that encode these proteins leads to cerebral cavernous malformations (CCM), which are vascular lesions that are found in around 0.5% of humans.
Angela J, Glading, Mark H, Ginsberg
openaire +2 more sources
Systems-wide analysis unravels the new roles of CCM signal complex (CSC)
Cerebral cavernous malformations (CCMs) are characterized by abnormally dilated intracranial capillaries that result in increased susceptibility to stroke. Three genes have been identified as causes of CCMs; KRIT1 (CCM1), MGC4607 (CCM2) and PDCD10 (CCM3);
Johnathan Abou-Fadel +4 more
doaj +1 more source
Transitivity properties of surface temperature and ice cover in the CCM1
Abstract A frequently made assumption in simple models of long-term climatic behavior (e.g. ‘energy balance’ models) is that, owing to instability engendered by the ice-albedo feedback, the climatic system (surface temperature, in particular) can exhibit multiple steady states within the paleoclimatologically observed range of temperature.
Barry Saltzman +2 more
openaire +1 more source
Loss of flavonol 3‐O‐glucosyltransferase activity confers soybean resistance to leaf‐chewing insects
Significance Statement The loss of flavonol 3‐O‐glucosyltransferase activity in soybean reduces feeding damage from defoliating insects and is accompanied by a concomitant increase in proanthocyanidins (red arrowhead). Unraveling the biochemical and genetic basis of soybean resistance to leaf‐chewing insects facilitates the development of new ...
P. K. Prabhakar +8 more
wiley +1 more source
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
Autosomal dominant cerebral cavernous malformation (CCM) represents a genetic disorder with a high mutation detection rate given that stringent inclusion criteria are used and copy number variation analyses are part of the diagnostic workflow. Pathogenic
Christiane D. Much +11 more
doaj +1 more source
A conserved CCM complex promotes apoptosis non-autonomously by regulating zinc homeostasis
Cerebral Cavernous Malformations (CCM) are often caused by mutations in CCM1/KRIT1. Here, Chapman et al. elegantly show that the CCM complex promotes apoptosis by regulating zinc homeostasis and storage via a conserved mechanism that likely generates the
Eric M. Chapman +14 more
doaj +1 more source
Small GTPase Rap1 Is Essential for Mouse Development and Formation of Functional Vasculature [PDF]
BACKGROUND: Small GTPase Rap1 has been implicated in a number of basic cellular functions, including cell-cell and cell-matrix adhesion, proliferation and regulation of polarity.
Chrzanowska-Wodnicka, Magdalena +3 more
core +2 more sources
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

