The recent generation of induced pluripotent stem cells (iPSCs) from a patient with Parkinson's disease (PD) resulting from triplication of the α-synuclein (SNCA) gene locus allows unprecedented opportunities to explore its contribution to the molecular pathogenesis of PD. We used the double-nicking CRISPR/Cas9 system to conduct site-specific mutagenesis of SNCA in these cells, generating an is...

The Candida albicans cell wall participates in both growth and morphological transitions between yeast and hyphae. Our studies here focus on Dfg5p and Dcw1p, two similar proteins with features of glycosylphosphatidylinositol-linked cell surface proteins. Mutants lacking Dfg5p are defective in alkaline pH-induced hypha formation; mutants lacking Dcw1p have no detected hypha formation defect. Bot...

Recently, a metastable thermal-chemical convection model was proposed to explain the African Superplume. Its bulk tabular shape remains relatively stable while its interior undergoes significant stirring with low-velocity conduits along its edges and down-welling near the middle. Here, we perform a mapping of chemistry and temperature into P and S velocity variations and replace a seismically d...

We present a stepwise optimal genome halving algorithm designed for large eukaryote genomes with largely single-copy genes, taking advantage of a signature pattern of paralog distribution in ancient polyploids. This is applied to the genome of Nelumbo nucifera, the sacred lotus, which is the descendant of a duplicated basal eudicot genome. In concert with the reconstructed ancestor of the grape...

The Triple Modular Redundant (TMR) architecture is based on the triplication of application modules. To mask faults, copies of modules are mapped on processing units, capable of direct communication. In the approach used in this paper, each processing unit (or a processor) mapping a module, is equipped with a kernel. This kernel allows it to mask faults via an agreement protocol involving the t...

We report a retrospective analysis carried out on 23,485 subjects submitted to a screening program from 2000 to 2006. Of these subjects, 3,934 had borderline HbA(2) values from 3.1 to 3.9%; 410 samples, analyzed previously using PCR methods and sequencing because all of these were partners of a carrier of classical beta-thalassemia, were selected for statistical analysis. Of 410 subjects, 94 (2...

Down syndrome, caused by the triplication of human chromosome 21, is the most frequent genetic cause of mental retardation. Mice with a segmental trisomy for mouse chromosome 16, which is orthologous to human chromosome 21, exhibit abnormalities similar to those in individuals with Down syndrome and therefore offer the opportunity for a genotype-phenotype correlation. In the current review, I p...

Down syndrome (DS) is one of the most common genetic disorders accompanying with mental retardation, cognitive impairment, and deficits in learning and memory. The brains with DS also display many neuropathological features including alteration in neurogenesis and synaptogenesis and early onset of Alzheimer's disease (AD)-like symptoms. Triplication of all or a part of human chromosome 21, espe...

Introduction The palmaris longus muscle is one of the most variable muscles in the human body [1] . It usually arises from the common flexor origin at the medial epicondyle of the humerus, and from the intermuscular septum. It inserts into the central palmar surface of the palmar aponeurosis. The palmaris longus is an important muscle for hand surgeons as it is commonly used in tendon graft and...

Vertebrobasilar system and its branches constitute the posterior circulation of the brain. The anatomy of the posterior circulation is very complex and is subjected to variations. 1 Superior Cerebellar Arteries (SCAs) are the most consistent branches arising from the basilar artery just below or at the level of its bifurcation. It supplies some portion of the midbrain, the superior surface of t...