Overexpression of DNA Polymerase Zeta Reduces the Mitochondrial Mutability Caused by Pathological Mutations in DNA Polymerase Gamma in Yeast

In yeast, DNA polymerase zeta (Rev3 and Rev7) and Rev1, involved in the error-prone translesion synthesis during replication of nuclear DNA, localize also in mitochondria. We show that overexpression of Rev3 reduced the mtDNA extended mutability caused by a subclass of pathological mutations in Mip1, the yeast mitochondrial DNA polymerase orthologous to human Pol gamma. This beneficial effect was synergistic with the effect achieved by increasing the dNTPs pools. Since overexpression of Rev3 is detrimental for nuclear DNA mutability, we constructed a mutant Rev3 isoform unable to migrate into the nucleus: its overexpression reduced mtDNA mutability without increasing the nuclear one

Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism

ANKRD17 is an ankyrin repeat-containing protein thought to play a role in cell cycle progression, whose ortholog in Drosophila functions in the Hippo pathway as a co-factor of Yorkie. Here, we delineate a neurodevelopmental disorder caused by de novo heterozygous ANKRD17 variants. The mutational spectrum of this cohort of 34 individuals from 32 families is highly suggestive of haploinsufficiency as the underlying mechanism of disease, with 21 truncating or essential splice site variants, 9 missense variants, 1 in-frame insertion-deletion, and 1 microdeletion (1.16 Mb). Consequently, our data indicate that loss of ANKRD17 is likely the main cause of phenotypes previously associated with large multi-gene chromosomal aberrations of the 4q13.3 region. Protein modeling suggests that most of the missense variants disrupt the stability of the ankyrin repeats through alteration of core structural residues. The major phenotypic characteristic of our cohort is a variable degree of developmental delay/intellectual disability, particularly affecting speech, while additional features include growth failure, feeding difficulties, non-specific MRI abnormalities, epilepsy and/or abnormal EEG, predisposition to recurrent infections (mostly bacterial), ophthalmological abnormalities, gait/balance disturbance, and joint hypermobility. Moreover, many individuals shared similar dysmorphic facial features. Analysis of single-cell RNA-seq data from the developing human telencephalon indicated ANKRD17 expression at multiple stages of neurogenesis, adding further evidence to the assertion that damaging ANKRD17 variants cause a neurodevelopmental disorder.Neurolog

Fuzzy Graph Tracking

. This paper is concerned with the problem of tracking groups of extended features in image sequences. A graph based image structure tracker is presented. The tracking is based on matching fuzzy features and feature relationships. Edges are extracted from subsequent frames. Fuzzy relational graphs are built from each image. The nodes of these graphs represent edge segments while the arcs code the relations among these segments. For each segment in one frame a set of potential assignments in the next frame is determined. Out of this assignment pool the global correspondence with highest similarity of features and feature relationships is calculated. Tracking is reduced to finding sets of mutually compatible nodes in graphs constructed from subsequent frames. The method is able to give guidelines for the correction of segmentation errors in particular frames. Keywords: tracking, fuzzy relations, graphs 1 Introduction Tracking is difficult because it requires to solve the correspondence..

Newcastle heart project

The European Cognitive Vision project VAMPIRE uses mobile AR-kits to interact with a visual active memory for teaching and retrieval purposes. This paper describes concept and technical realization of the used mobile AR-kits and discusses interactive learning and retrieval in office environments, and the active memory infrastructure. The focus is on 3D interaction for pointing in a scene coordinate system. This is achieved by 3D augmented pointing, which combines inside-out tracking for head pose recovery and 3D stereo human-computer interaction. Experimental evaluation shows that the accuracy of this 3D cursor is within a few centimeters, which is sufficient to point at an object in an office. Finally, an application of the cursor in VAMPIRE is presented, where in addition to the mobile system, at least one stationary active camera is used to obtain different views of an object. There are many potential applications, for example an improved view-based object recognition. © 2006 Elsevier B.V. All rights reserved

A physically-motivated deformable model based on fluid dynamics

A novel deformable model for image segmentation and shape recovery is presented. The model is inspired by fluid dynamics and is based on a flooding simulation similar to the watershed paradigm. Unlike most watershed methods, our model has a continuous formulation, being described by two partial differential equations. In this model, different fluids, added by placing density (dye) sources manually or automatically, are attracted towards the contours of the objects of interest by an image force. In contrast to the watershed method, when different fluids meet they may mix. When the topographical relief of the image is flooded, the interfaces separating homogeneous fluid regions can be traced to yield the object contours. We demonstrate the flexibility and potential of our model in two experimental settings: shape recovery using manual initializations and automated segmentation

Model Based Segmentation for Retinal Fundus Images

This paper presents a method for detecting and measuring the vascular structures of retinal images. Features are modelled as a superposition of Gaussian functions in a local region. The parameters i.e. centroid, orientation, width of the feature are derived by a minimum mean square error (MMSE) type of spatial regression. We employ a penalised likelihood test, the Akakie Information Criteria, to select the best model and scale for vessel segments. A maximum-cost spanning tree (MST) algorithm is then used to perform the neighbourhood linking and infer the global vascular structure. We present results of evaluations on a set of twenty digital fundus retinal images