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Showing papers in "Current Opinion in Genetics & Development in 2009"


Journal ArticleDOI
TL;DR: There are numerous overlapping phenotypic features between the RASopathies, including characteristic facial features, cardiac defects, cutaneous abnormalities, neurocognitive delay and a predisposition to malignancies.

681 citations


Journal ArticleDOI
TL;DR: The 'Common Disease, Rare Variant (CDRV)' hypothesis argues that multiple rare DNA sequence variations, each with relatively high penetrance, are the major contributors to genetic susceptibility to common diseases.

664 citations


Journal ArticleDOI
TL;DR: Clinical studies aiming at CAF-targeting can now be envisioned based on findings from experimental intervention studies with agents targeting, for example FAP or PDGF-, TGF-beta- or hedgehog-signaling.

518 citations


Journal ArticleDOI
TL;DR: Manipulating angiomiRs in the settings of pathological vascularization represents a new therapeutic approach in regulating endothelial cell function, especially angiogenesis.

423 citations


Journal ArticleDOI
TL;DR: This review will focus on recent progress in understanding how glucose and glutamine metabolism is redirected by oncogenes in order to support de novo nucleotide biosynthesis during proliferation and how metabolic reprogramming can be potentially exploited in the development of new cancer therapies.

293 citations


Journal ArticleDOI
TL;DR: Polycomb group (PcG) proteins are transcriptional repressors that control expression of developmental regulator genes in animals and plants as discussed by the authors, and have been shown to be a powerful mechanism for dynamic control of gene transcription.

252 citations


Journal ArticleDOI
TL;DR: Advances in the development of strategies to identify long-range regulatory sequences throughout the human genome are reviewed, focusing on two important classes of distal regulatory sequences-enhancers and insulators.

238 citations


Journal ArticleDOI
Marianna Bei1
TL;DR: The fundamental understanding of the control mechanisms responsible for normal tooth patterning in the embryo will help to understand cell fate specificity and may provide valuable information towards tooth organ regeneration.

215 citations


Journal ArticleDOI
TL;DR: The recent discovery of recurrent rearrangements within genomic hotspots and their association with both syndromic and nonsyndromic diseases are reviewed.

213 citations


Journal ArticleDOI
TL;DR: It is argued that this designation of PARK loci is misleading and that if the authors seek to understand the pathogenesis, they should study the genetics of Lewy body diseases: these include not only idiopathic Parkinson's disease, but also such disparate syndromes as Hallevorden-Spatz disease and Niemann-Pick Type C.

205 citations


Journal ArticleDOI
TL;DR: The mouse hematopoietic stem cell is probably the best-understood somatic stem cell in higher organisms and a series of intracellular regulatory molecules mediate the processes of dormancy, cycling, self-renewal, differentiation, and survival.

Journal ArticleDOI
TL;DR: Ongoing research on the formation of the first skeletal muscle, the myotome, is presented with emphasis on mechanisms controlling the early segregation of slow and fast muscle lineages that characterizes this process in the zebrafish embryo.

Journal ArticleDOI
TL;DR: The transition from juvenile to adult development in flowering plants is regulated by two temporally expressed miRNAs, miR156 and miR172, which target two families of plant-specific transcription factors that cooperate to regulate phase-specific vegetative traits, as well as genes involved in flowering.

Journal ArticleDOI
Mitinori Saitou1
TL;DR: The recent clarification of the mechanism by which signaling activities confer the germ cell fate to the epiblast cells underscores the feasibility of generating the mammalian germ cell lineage in vitro.

Journal ArticleDOI
TL;DR: This work focuses on recent advances in the understanding of the influence of specific nuclear neighborhoods on gene expression or repression within different nuclear neighborhoods.

Journal ArticleDOI
TL;DR: Recent studies have provided new insights into these Notch trafficking steps, and have uncovered additional endosomal mechanisms that contribute to asymmetric Notch activation and ligand-independent Notch signaling.

Journal ArticleDOI
TL;DR: Over the last five years, a large number of autism susceptibility loci have emerged, redefining their notion of autism's etiologies, and reframing how the authors think about ASD.

Journal ArticleDOI
TL;DR: This review will focus on recent advances that demonstrate that genomic repeats have had a global impact on vertebrate gene regulatory networks and results that show how transposable elements have been a major catalyst of structural rearrangements throughout evolution.

Journal ArticleDOI
TL;DR: New findings are quickly lending insight into the functions of this cellular extension that seems to be especially important in modulation of subcellular signaling cascades at various stages of development and adult homeostasis.

Journal ArticleDOI
TL;DR: The first such systematic mapping experiments using the recently developed ChIP-Sequencing technique have revealed a combinatorial modification 'backbone' consisting of multiple histone modifications associated with active transcription.

Journal ArticleDOI
TL;DR: Recent studies of 12 zebrafish mutant genes that illuminate the maternal molecular controls on embryonic development are discussed, including advances in the regulation of animal-vegetal polarity, egg activation, cleavage development, body plan formation, tissue morphogenesis, microRNA function and germ cell development.

Journal ArticleDOI
TL;DR: Gain-of-function assays in which chromatin is targeted to the nuclear periphery have now been carried out, suggesting that certain principles of nuclear organization may hold true from yeast to man.

Journal ArticleDOI
TL;DR: It is becoming clear that, from being an all-or-nothing switch, EMT can be applied in a fine-tuned manner to allow the efficient migration of cohesive epithelia that maintain their internal organisation.

Journal ArticleDOI
TL;DR: Several cases of HGT conferring a plausible adaptive advantage are reviewed to examine emerging trends in such transfer events and seem to play an important role in adaptation to parasitism and pathogenesis, as well as to other specific environmental conditions such as anaerobiosis or nitrogen and iron limitation in marine environments.

Journal ArticleDOI
TL;DR: The emerging concepts of the molecular actions of Wnt-signalling in regulating differential behaviour and/or cell functions during vascular development are reviewed.

Journal ArticleDOI
TL;DR: The ancestral metazoan genome included members of the bHLH, Mef2, Fox, Sox, T-box, ETS, nuclear receptor, Rel/NF-kappaB, bZIP, and Smad families, and a diversity of homeobox-containing classes, including ANTP, Prd-like, Pax, POU, LIM-HD, Six, and TALE.

Journal ArticleDOI
TL;DR: Recent studies on HIF-2alpha are summarized and the potential mechanisms whereby it contributes to tumor aggressiveness are discussed.

Journal ArticleDOI
TL;DR: Cancer stem cells may be formed by epithelial-mesenchymal transition and seem to be less prevalent in metastases than in corresponding primary tumors, and appear to have therapeutic sensitivities different from those of cancer cells with more differentiated features.

Journal ArticleDOI
TL;DR: The discovery that cellular senescence can be bypassed during the epithelial-mesenchymal transition (EMT) that typically accompanies tumor progression, the observation that organ fibrosis is controlled by cellularsenescence and the mounting evidence linking cellularSenescence to inflammation, make cellular Senescence a still flaming hot subject after all these years.

Journal ArticleDOI
TL;DR: The major issue is that these genes have been looked at one at a time rather than in some more holistic manner where epistasis is considered and for asthma genetics to begin to have an impact on clinical medicine the authors need to consider epistatic interaction.