A myotrophic lateral sclerosis (ALS) is an adultonset neurodegenerative disease characterized by progressive loss of motor neurons from the spinal cord, brainstem, and cerebral cortex that typically results in death 2 to 5 years following onset. Approximately 10% of patients with ALS have a family history, of which 15% to 20% are linked to mutations in the SOD1 gene; these patients most frequen...

Understanding aging is a grand challenge in biology. Exceptionally long-lived animals have mechanisms that underpin extreme longevity. Telomeres are protective nucleotide repeats on chromosome tips that shorten with cell division, potentially limiting life span. Bats are the longest-lived mammals for their size, but it is unknown whether their telomeres shorten. Using >60 years of cumulative ma...

A Covering Separating System on a setX is a collection of blocks in which each element of X appears at least once, and for each pair of distinct points a, b ∈ X, there is a block containing a and not b, or vice versa. An introduction to Covering Separating Systems is given, constructions are described for a class of minimal Covering Separating Systems and an application to Search Theory is pres...

The present paper provides first and second-order characterizations of a radially lower semicontinuous strictly pseudoconvex function f : X → R defined on a convex setX in the real Euclidean space Rn in terms of the lower Dini-directional derivative. In particular we obtain connections between the strictly pseudoconvex functions, nonlinear programming problem, Stampacchia variational inequality...

BACKGROUND Array-based comparative genomic hybridization (aCGH) is a reference high-throughput technology for detecting large pathogenic or polymorphic copy-number variations in the human genome; however, a number of quantitative monogenic mutations, such as smaller heterozygous deletions or duplications, are usually missed in most disease genes when proper multiplex ligation-dependent probe as...

The nuclear RNA and DNA helicase Sen1 is essential in the yeast Saccharomyces cerevisiae and is required for efficient termination of RNA polymerase II transcription of many short noncoding RNA genes. However, the mechanism of Sen1 function is not understood. We created a plasmid-based genetic system to study yeast Sen1 in vivo. Using this system, we show that (1) the minimal essential region o...

The visibility graph V(X) of a discrete point set X ⊂ R has vertex set X and an edge xy for every two points x, y ∈ X whenever there is no other point in X on the line segment between x and y. We show that for every graphG, there is a point setX ∈ R, such that the subgraph of V(X∪Z) induced by X is isomorphic to G. As a consequence, we show that there are visibility graphs of arbitrary high chr...

Senataxin is encoded by the SETX gene and is mainly involved in two different neurodegenerative diseases, the dominant juvenile form of amyotrophic lateral sclerosis type 4 and a recessive form of ataxia with oculomotor apraxia type 2. Based on protein homology, senataxin is predicted to be a putative DNA/RNA helicase, while senataxin interactors from patients' lymphoblast cell lines suggest a ...

Charcot-Marie-Tooth (CMT) disease is the most prevalent inherited neuropathy. Today more than 40 CMT genes have been identified. Diagnosing heterogeneous diseases by conventional Sanger sequencing is time consuming and expensive. Thus, more efficient and less costly methods are needed in clinical diagnostics. We included a population based sample of 81 CMT families. Gene mutations had previousl...