Mortality in patients with alpha-mannosidosis: a review of patients' data and the literature.

Background: Alpha-mannosidosis is a rare autosomal recessive lysosomal storage disorder (LSD) caused by reduced activity of alpha-mannosidase. Clinical manifestations include skeletal dysmorphism, mental impairment, hearing loss and recurrent infections. The severe type of the disease leads to early childhood death, while patients with milder forms can live into adulthood.

Complex process of image color correction: a test of a target-based framework.

This paper aims at presenting the complexity of the process of image target-based color correction (CC). We present issues encountered from acquisition to rendering using colorimetric traditional tools. Target-based CC can be seen as an optimization problem.

Securing Color Fidelity in 3D Architectural Heritage Scenarios.

Ensuring color fidelity in image-based 3D modeling of heritage scenarios is nowadays still an open research matter. Image colors are important during the data processing as they affect algorithm outcomes, therefore their correct treatment, reduction and enhancement is fundamental. In this contribution, we present an automated solution developed to improve the radiometric quality of an image datasets and the performances of two main steps of the photogrammetric pipeline (camera orientation and dense image matching).

Time to tackle the incumbency advantage in science: A survey of scientists shows strong support for funding policies that would distribute funds more evenly among laboratories and thereby benefit new and smaller research groups.

The fact that larger, well‐established labs have more success securing research grants creates an unfair situation for younger researchers. A survey shows that many scientists favour alternative funding schemes that would distribute grant money more equally or based on the merit of the individual.[Image: see text]

Increasing both the public health potential of basic research and the scientist satisfaction. An international survey of bio-scientists.

Basic scientific research generates knowledge that has intrinsic value which is independent of future applications. Basic research may also lead to practical benefits, such as a new drug or diagnostic method. Building on our previous study of basic biomedical and biological researchers at Harvard, we present findings from a new survey of similar scientists from three countries.

Publications in PubMed on Ebola and the 2014 outbreak.

In this research note we examine the biomedical publication output about Ebola in 2014. We show that the volume of publications has dramatically increased in the past year. In 2014 there have been over 888 publications with 'ebola' or 'ebolavirus' in the title, approximately 13 times the volume of publication of 2013.

A nontranscriptional role for Oct4 in the regulation of mitotic entry.

Rapid progression through the cell cycle and a very short G1 phase are defining characteristics of embryonic stem cells. This distinct cell cycle is driven by a positive feedback loop involving Rb inactivation and reduced oscillations of cyclins and cyclin-dependent kinase (Cdk) activity. In this setting, we inquired how ES cells avoid the potentially deleterious consequences of premature mitotic entry.

Policies to increase the social value of science and the scientist satisfaction. An exploratory survey among Harvard bioscientists.

Basic research in the biomedical field generates both knowledge that has a value per se regardless of its possible practical outcome and knowledge that has the potential to produce more practical benefits. Policies can increase the benefit potential to society of basic biomedical research by offering various kinds of incentives to basic researchers. In this paper we argue that soft incentives or "nudges" are particularly promising.

Countries' Biomedical Publications and Attraction Scores. A PubMed-based assessment.

Studying publication volumes at the country level is key to understanding and improving a country's research system. PubMed is a public search engine of publications in all life sciences areas. Here, we show how this search engine can be used to assess the outputs of life science-related research by country.

Geminin deploys multiple mechanisms to regulate Cdt1 before cell division thus ensuring the proper execution of DNA replication.

Cdc10-dependent transcript 1 (Cdt1) is an essential DNA replication protein whose accumulation at the end of the cell cycle promotes the formation of pre-replicative complexes and replication in the next cell cycle. Geminin is thought to be involved in licensing replication by promoting the accumulation of Cdt1 in mitosis, because decreasing the Geminin levels prevents Cdt1 accumulation and impairs DNA replication. Geminin is known to inhibit Cdt1 function; its depletion during G2 leads to DNA rereplication and checkpoint activation.

Gap 1 phase length and mouse embryonic stem cell self-renewal.

In somatic cells, the length of the G1 phase of the cell cycle is tightly linked to differentiation, and its elongation can drive differentiation in many cases. Although it has been suggested that the situation is very similar in embryonic stem cells (ESCs), where a rapid cell cycle and a short G1 phase maintain the pluripotent state, evidence has been contradictory. Here we show that, in murine ESCs, elongation of the cell cycle and elongation of G1 are compatible with their pluripotent state.

Cell cycle adaptations of embryonic stem cells.

ES cells proliferate with very short gap phases yet maintain their capacity to differentiate. It had been thought that the levels of cyclins and other substrates of ubiquitin ligase APC/C remain nearly constant and Cdk activity remains constitutively high in mouse ES cells. Here we demonstrate that APC/C (anaphase-promoting complex/cyclosome) enzyme is active in ES cells but attenuated by high levels of the Emi1 (early mitotic inhibitor-1) protein.

Human CDT1 associates with CDC7 and recruits CDC45 to chromatin during S phase.

The initiation of DNA replication is a tightly controlled process that involves the formation of distinct complexes at origins of DNA replication at specific periods of the cell cycle. Pre-replicative complexes are formed during telophase and early G(1). They rearrange at the start of S phase to form pre-initiation complexes, which are a prerequisite for DNA replication.

Developmental outcomes at one and two years of children conceived by intracytoplasmic sperm injection.

Background: Present opinions regarding developmental delay of children conceived with intracytoplasmic sperm injection (ICSI) are variable and without consensus.

Methods: We compared developmental outcome at 1 and 2 years of 50 children conceived by ICSI with 51 spontaneously conceived children. Assessments were performed using the Bayley Scales of Infant Development for motor and mental development and quality of behavior, and the CARE-Index for the quality of parent-child interaction.

Human geminin promotes pre-RC formation and DNA replication by stabilizing CDT1 in mitosis.

Geminin is an unstable inhibitor of DNA replication that negatively regulates the licensing factor CDT1 and inhibits pre-replicative complex (pre-RC) formation in Xenopus egg extracts. Here we describe a novel function of Geminin. We demonstrate that human Geminin protects CDT1 from proteasome-mediated degradation by inhibiting its ubiquitination.

Loss of Geminin induces rereplication in the presence of functional p53.

Strict regulation of DNA replication is essential to ensure proper duplication and segregation of chromosomes during the cell cycle, as its deregulation can lead to genomic instability and cancer. Thus, eukaryotic organisms have evolved multiple mechanisms to restrict DNA replication to once per cell cycle. Here, we show that inactivation of Geminin, an inhibitor of origin licensing, leads to rereplication in human normal and tumor cells within the same cell cycle.

Loss of MYC confers resistance to doxorubicin-induced apoptosis by preventing the activation of multiple serine protease- and caspase-mediated pathways.

c-Myc plays an essential role in proliferation, differentiation, and apoptosis. Because of its relevance to cancer, most studies have focused on the cellular consequences of c-Myc overexpression. Here, we address the role of physiological levels of c-Myc in drug-induced apoptosis.