Anticipation in lynch syndrome: where we are where we go

Lynch syndrome (LS) is the most common form of inherited predisposition to develop cancer mainly in the colon and endometrium but also in other organ sites. Germline mutations in DNA mismatch repair (MMR) gene cause the transmission of the syndrome in an autosomal dominant manner. The management of LS patients is complicated by the large variation in age at cancer diagnosis which requires these patients to be enrolled in surveillance protocol starting as early as in their second decade of life. Several environmental and genetic factors have been proposed to explain this phenotypic heterogeneity, but the molecular mechanisms remain unknown. Although the presence of genetic anticipation in Lynch syndrome has been suspected since 15 years, only recently the phenomenon has been increasingly reported to be present in different cancer genetic syndromes including LS. While the biological basis of earlier cancer onset in successive generations remains poorly known, recent findings point to telomere dynamics as a mechanism significantly contributing to genetic anticipation in Lynch syndrome and in other familial cancers. In this review, we summarize the clinical and molecular features of Lynch syndrome, with a particular focus on the latest studies that have investigated the molecular mechanisms of genetic anticipation.     

Single-cell metabolomics: where are we and where are we going?

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Review: protein design--where we were, where we are, where we're going

Protein design has become a powerful approach for understanding the relationship between amino acid sequence and 3-dimensional structure. In the past 5 years, there have been many breakthroughs in the development of computational methods that allow the selection of novel sequences given the structure of a protein backbone. Successful design of protein scaffolds has now paved the way for new endeavors to design function. The ability to design sequences compatible with a fold may also be useful in structural and functional genomics by expanding the range of proteins used for fold recognition and for the identification of functionally important domains from multiple sequence alignments.     

Glycosaminoglycanomics: where we are

Glycosaminoglycans regulate numerous physiopathological processes such as development, angiogenesis, innate immunity, cancer and neurodegenerative diseases. Cell surface GAGs are involved in cell-cell and cell-matrix interactions, cell adhesion and signaling, and host-pathogen interactions. GAGs contribute to the assembly of the extracellular matrix and heparan sulfate chains are able to sequester growth factors in the ECM. Their biological activities are regulated by their interactions with proteins. The structural heterogeneity of GAGs, mostly due to chemical modifications occurring during and after their synthesis, makes the development of analytical techniques for their profiling in cells, tissues, and biological fluids, and of computational tools for mining GAG-protein interaction data very challenging. We give here an overview of the experimental approaches used in glycosaminoglycomics, of the major GAG-protein interactomes characterized so far, and of the computational tools and databases available to analyze and store GAG structures and interactions.     

Application of stem cells in cardiology: where we are and where we are going

Heart disease including myocardial infarction and ischemia is associated with the irreversible loss of cardiomyocytes and vasculature, both via apoptosis or necrosis. However, the native capacity for the renewal and repair of myocardial tissue is inadequate as have been current therapeutic measures to prevent left ventricular remodeling. Cell transplantation has emerged as a potentially viable therapeutic approach to directly repopulate and repair the damaged myocardium. A detailed analysis and a vision for future progress in stem cell applications, both in research and clinical cardiology are presented in this review, highlighting the use of a wide spectrum of stem/progenitor cell types including embryonic or fetal stem cells, myoblasts, and adult bone marrow stem cells. An up-to-date comparison of donor cell-types used, and evaluation of the myocardial disorders that might be most amenable to stem cell therapy are discussed. The roles that myocardial cell fusion and transdifferentiation play in stem cell transplantation, the specific shortcomings of available technologies, and recommendations for practical ways that these concerns might be overcome, are also presented.     

Two Decades of Molecular Ecology: where are we and where are we heading?

The twentieth anniversary of the journal Molecular Ecology was celebrated with a symposium on the current state and the future directions of the field. The event, organized by Tim Vines and Loren Rieseberg, took place on the opening day of the First Joint Congress on Evolutionary Biology organized by the American Society of Naturalists (ASN), the Canadian Society for Ecology and Evolution (CSEE), the European Society for Evolutionary Biology (ESEB), the Society for the Study of Evolution (SSE) and the Society of Systematic Biologists (SSB) in Ottawa (Canada) from 6–10 July 2012. The get together of these five societies created a truly international and exciting “Evolution conference” and the ideal framework for the Molecular Ecology symposium. Its thirteen talks were grouped into the five different subject areas of the journal: Speciation and Hybridization; Landscape Genetics, Phylogeography and Conservation; Ecological Genomics and Molecular Adaptation; Kinship, Parentage and Behaviour; Ecological Interactions. Each session was followed by a panel discussion on the future direction of the subfield. That more than 300 colleagues registered for this special symposium illustrates the broad interest in, and appreciation of, molecular ecology – both the field and the journal.     

Melanoma: Where we are and where we go

Melanoma is known as an aggressive tumor which shows an increasing incidence and poor prognosis in the metastatic phase. Hence, it seems that diagnosis and effective management (including early diagnosis, choosing of the effective therapeutic platform, caring, and training of patients for early detection) are major aspects of melanoma therapy. Early detection of melanoma is a key point for melanoma therapy. There are various diagnosis options such as assessing of biopsy, imaging techniques, and biomarkers (i.e., several proteins, polymorphism, and liquid biopsy). Among the various biomarkers, assessing circulating tumor cells, cell-free DNAs, cell-free RNAs, and microRNAs (miRNAs) have emerged as powerful diagnosis tools for melanoma patients. Deregulations of these molecules are associated with melanoma pathogenesis. After detection of melanoma, choosing of effective therapeutic regimen is a key step for recovery of melanoma patients. Several studies indicated that various therapeutic approaches including surgery, immunotherapy, systematic therapy, radiation therapy and antibodies therapy could be used as potential therapeutic candidates for melanoma therapy. Caring for melanoma patients is one of the important components of melanoma therapy. Caring and training for melanoma patients could contribute to better monitoring of patients in response to various therapeutic options. Here, we summarized various diagnosis approaches such as assessing biopsy, imaging techniques, and utilization of various biomarkers (i.e., proteins, CTCs, cfDNAs, and miRNAs) as a diagnostic biomarker for detection and monitoring patients with melanoma. Moreover, we highlighted various therapeutic options and caring aspects in patients with melanoma.     

Vascularization in skin wound healing: where do we stand and where do we go?

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The current state of microbial proteomics: where we are and where we want to go

Proteomics allows the assessment of cellular processes in an unprecedented scale by providing a comprehensive quantitative and qualitative overview of the protein content of a cell. Consequently, proteomics has been employed to investigate a multitude of bacterial processes ranging from the analysis of environmental communities, identification of virulence factors to the proteome-guided optimization of production strains. Proteomics has, in short, become an indispensable tool for the global analysis of bacterial physiology. Nonetheless, challenges exist, especially in the accurate prediction of phenotypic consequences based on any given proteome composition. In this review, we will give an overview of current highlights in the area of microbial proteomics, discuss some current challenges and present new developments that may help in overcoming them.     

Biological AFM: where we come from--where we are--where we may go

Biological atomic force microscopy (AFM) is a fast growing and advancing field. This review's objective is to overview the state of the art and to retrace achievements of biological AFM as presented by past and present research, and wishes to give a (subjective) outlook where AFM may go in the upcoming years. The following areas of interest are discussed: High-resolution imaging, cell imaging, single molecule force spectroscopy, cell mechanical measurements, combined AFM instrumentation, and AFM instrumentation. Of all these topics, particular representative examples are shown, each of them standing for a variety of achievements by many research groups.     

Race statistics: how to get from where we are to where we should be: a rejoinder

America's race statistics are inadequate to the policy challenges of the twenty-first century, especially for social justice and immigrant incorporation policy. But inertial forces – technical and political – complicate change. Overcome technical barriers by taking advantage of an experiment fielded in 2010. To miss that opportunity would be a huge failure. Political barriers are more difficult. Start with what is familiar – more emphasis on national origin – and add flexibility and granularity, both are politically desirable. Introduce change without disrupting the existing policy practices. Phase in improvements gradually, taking advantage of generational turnover. One generation changes the statistical basis for policy. The next generation, which has grown up with the new statistics, implements the policy changes. An example of how this works is found in the multiple-race option introduced in the 2000 census but probably not put to policy use until after the 2030 census.     

Birdlife International: who we are and where we have come from

Rands, M. 2000. Birdlife International: who we are and where we have come from. Ostrich 71 (1 & 2): 148–149.

The International Council for Bird Preservation (ICBP)—the forerunner of BirdLife International—was founded in 1922 by a small and dedicated group of individuals. It has grown into a world-wide network of Partner organisations and individuals committed to achieving the conservation of the world's birds and other biological diversity. The evolution and some major achievements of the organisation are outlined, from the early days of ICBP, to the current status of BirdLife International, actively represented in 80 countries world-wide. The BirdLife Vision, the mission of the Partnership, the regional structures and some of the personalities behind the conservation action are presented as the organisation looks forward to the challenge of conserving the world's birds in the 21st century.