Taxonomic arrangements for the cormorants and shags (Phalacrocoracidae) had varied greatly until two quite similar arrangements, one based on behavior and the other on osteological characters, became the basis for current thought on the evolutionary relationships of these birds. The terms cormorant and shag, which had previously been haphazardly applied to members of the group, became the verna...

In cancer, the FOXO family of transcription factors functions as tumor suppressors and is directly inactivated by oncogenic signaling through the PI3K/AKT pathway. Now, Skykes et al. (2011) identify a paradoxical requirement for FOXOs in the maintenance of leukemia-initiating cells.

The expression of the human c-myc protooncogene is subject to many levels and types of control. Evidence suggests that regulation of the expression of this gene involves elements within the gene as well as those upstream from the gene. We show that a ubiquitous mammalian sequence-specific DNA-binding protein, MDBP, binds specifically to a site in the beginning of the first intron of this gene. ...

In a previous paper, I investigated the interactions in a gene family of additive selection and biased gene conversion in a finite population when conversion events are rare. Here I extend my "weak-conversion limit" model by allowing biased interallelic conversion (conversion between alleles at the same locus) of arbitrary frequency and various threshold selection schemes for rare interlocus co...

Abstract The diffusion of Next Generation Sequencing (NGS)-based approaches has allowed the identification cardiomyopathies and channelopathies pathogenic mutations in more than 200 different genes. Since also genes considered uncommon for a clinical phenotype are now included molecular testing, detection rate disease-causing variants is increased. Here, we report prevalence genetic detected co...

Gene therapy is a relatively recent, and still highly experimental, approach to treating human disease. While traditional drug therapies involve the administration of chemicals that have been manufactured outside the body, gene therapy takes a very different approach: directing a patient’s own cells to produce and deliver a therapeutic agent. The instructions for this are contained in the thera...

Background The ARTFL-LEFFTDS Longitudinal Frontotemporal Lobar Degeneration (ALLFTD) research consortium is actively enrolling participants across 23 North American centers to characterize sporadic and familial frontotemporal dementia (FTD) prepare for disease-modifying clinical trials. ability identify, otherwise unknown, relatives among these critical rigorously build family structures downst...

The systematic identification of rare variants and novel pathways associated with myocardial infarction (MI) has introduced next-generation sequencing technology to large clinical cohorts. 1 Although this population-wide approach to uncover the full spectrum of rare variation is promising, it has not replaced the smaller scale sequencing of well-phenotyped families with Mendelian disorders. Erd...

The pentatricopeptide repeat (PPR) protein family is highly expanded in terrestrial plants. Arabidopsis contains 450 PPR genes, which represents 2% of the total protein-coding genes. PPR proteins are eukaryote-specific RNA-binding proteins implicated in multiple aspects of RNA metabolism of organellar genes. Most PPR proteins affect a single or small subset of gene(s), acting in a gene-specific...

background : alzheimer's disease (ad) is one of the most common problems for old peoples. etiology of ad is not clear, but genetic factors play a major role in determining a person's risk to develop ad. twin and family studies con-firm that ad has a genetic basis.ad genetics has been split into two broad categories: early-onset and late-onset. eo-ad cases are inherited in an autosomal dominant ...