In five separate families, we identified nine individuals affected by a previously unidentified syndrome characterized by growth retardation, spine malformation, facial dysmorphisms, and developmental delays. Using homozygosity mapping, array CGH, and exome sequencing, we uncovered bi-allelic loss-of-function CDK10 mutations segregating with this disease. CDK10 is a protein kinase that partners wi

The meiotic functions of Emi2, an inhibitor of the APC/C complex, have been best characterized in oocytes where it mediates metaphase II arrest as a component of the cytostatic factor. We generated knockout mice to determine the in vivo functions of Emi2—in particular, its functions in the testis, where Emi2 is expressed at high levels. Male and female Emi2 knockout mice are viable but sterile, in

Sox2 is known to be important for neuron formation, but the precise mechanism through which it activates a neurogenic program and how this differs from its well-established function in self-renewal of stem cells remain elusive. In this study, we identified a highly conserved cyclin-dependent kinase (Cdk) phosphorylation site on serine 39 (S39) in Sox2. In neural stem cells (NSCs), phosphorylation

The maintenance of cell size homeostasis has been studied for years in different cellular systems. With the focus on ‘what regulates cell size’, the question ‘why cell size needs to be maintained’ has been largely overlooked. Recent evidence indicates that animal cells exhibit nonlinear cell size dependent growth rates and mitochondrial metabolism, which are maximal in intermediate sized cells wit

In mammals, primordial germ cells (PGCs) are the embryonic cell population that serve as germ cell precursors in both females and males. During mouse embryonic development, the majority of PGCs are arrested at the G2 phase when they migrate into the hindgut at 7.75-8.75 dpc (days post coitum). It is after 9.5 dpc that the PGCs undergo proliferation with a doubling time of 12.6 h. The molecular mec

The failure of pancreatic isletβ-cells is a major contributor to the etiology of type 2 diabetes.β-Cell dysfunction and declining β-cell mass are two mechanisms that contribute to this failure, although it is unclear whether they are molecularly linked. Here, we show that the cell cycle regulator, cyclin-dependent kinase 2 (CDK2), couples primary β-cell dysfunction to the progressive deterioration

SummaryBackground Regulation of cell size requires coordination of growth and proliferation. Conditional loss of cyclin-dependent kinase 1 in mice permits hepatocyte growth without cell division, allowing us to study cell size in vivo using transcriptomics and metabolomics. Results Larger cells displayed increased expression of cytoskeletal genes but unexpectedly repressed expression of many genes

Telomere attachment to the nuclear envelope (NE) is a prerequisite for chromosomemovement duringmeiotic prophase I that is required for pairing of homologous chromosomes, synapsis, and homologous recombination. Here we show that Speedy A, a noncanonical activator of cyclin-dependent kinases (Cdks), is specifically localized to telomeres in prophase I male and female germ cells in mice, and plays a

Several studies have shown that consumers with a high organic consumption often have dietary habits that include more fruit and vegetables but less red meat. This paper takes a novel approach by investigating whether changes in consumption of organics and improvements in dietary habits also are related. The results show that many consumers seem to improve their diet while increasing the organic co

Thermoresponsive structures in the 5'-untranslated region of mRNA are known to control translation of heat shock and virulence genes. Expression of many rhizobial heat shock genes is regulated by a conserved sequence element called ROSE for repression of heat shock gene expression. This cis-acting, untranslated mRNA is thought to prevent ribosome access at low temperature through an extended secon

To ensure a continuous high standard of police units, it is critical to recruit people who perform well in stressful situations. Today, this selection process includes performing a large series of tests, which still may not objectively reveal a person’s capacity to handle a life-threatening situation when subjected to high levels of stress. To obtain more systematic and objective data, 12 police o

Searches for scalar leptoquarks pair-produced in proton–proton collisions at s=13 TeV at the Large Hadron Collider are performed by the ATLAS experiment. A data set corresponding to an integrated luminosity of 36.1 fb- 1 is used. Final states containing two electrons or two muons and two or more jets are studied, as are states with one electron or muon, missing transverse momentum and two or more

Background: Hand injuries occur at any age and cause disability in hand and arm function as well as impaired quality of life, but no study has focused on hand disability and quality of life in the elderly after a hand injury. Globally, the population over 60 years of age is expected to double by 2050 and more hand injuries are estimated among the elderly population. Our goal is to obtain more info

Climate variability is highly impacting on mosquito-borne diseases causing malaria and dengue fever across the globe. Seasonal variability change in temperature and rainfall patterns are impacting on human health. Mosquitoes cause diseases like dengue fever, yellow fever, malaria, Chikungunya, West Nile and Japanese encephalitis. According to estimations by health organizations, annually one milli

Mice with different histocompatibility loci on an identical background genome (congenic resistant lines of mice) were used to study the possible influence of the histocompatibility complex on experimental diabetes. The major histocompatibility complex (H-2) was not found to influence the diabetogenic effect of encephalomyocarditis (EMC) virus. In contrast the glucose intolerance following heterolo