Showing papers in "Trends in Genetics in 2000"
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TL;DR: The European Molecular Biology Open Software Suite is a mature package of software tools developed for the molecular biology community that includes a comprehensive set of applications for molecular sequence analysis and other tasks and integrates popular third-party software packages under a consistent interface.
9,493 citations
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TL;DR: Methylation changes constitute potentially sensitive molecular markers to define risk states, monitor prevention strategies, achieve early diagnosis, and track the prognosis of cancer.
1,625 citations
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TL;DR: This work was supported in part by the National Library of Medicine, grant 5 P41 LM06252-3.
963 citations
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TL;DR: This Wnt pathway was the first described feature of the noncanonical pathway, and as Ca2+ probably plays a key role in the activation of CamKII and PKC, it is named the Wnt/Ca2+ pathway.
901 citations
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TL;DR: In this paper, the authors discuss and integrate microsatellite mutation data in an evolutionary context, and show that the micro-satellite-length distribution is a delicate balance between biased mutation processes and point mutations acting towards the decay of repetitive DNA.
696 citations
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TL;DR: The focus of this article is how SOX proteins specifically pair off with respective partner factors and, as a consequence, select distinct sets of genes as their regulatory targets.
654 citations
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TL;DR: This work examines 15 terminological problems related to the usage of homology and its associated terms and suggests a set of definitions that are intended to be totally consistent among themselves and also as consistent as possible with most current usage.
642 citations
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TL;DR: Double-strand chromosome breaks can arise in a number of ways, by ionizing radiation, by spontaneous chromosome breaks during DNA replication, or by the programmed action of endonucleases, such as in meiosis.
615 citations
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TL;DR: The ADAM gene products with known functions that act in a highly diverse set of biological processes, including fertilization, neurogenesis, myogenesis, embryonic TGF-alpha release and the inflammatory response are discussed.
607 citations
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TL;DR: Genetic analysis of plant mutants impaired in mounting a resistance response to invading pathogens has uncovered a number of distinct, but interconnecting, signaling networks that are under both positive and negative control.
550 citations
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TL;DR: The recent findings on LIM-homeobox gene function are summarized, the function of these genes from different organisms are compared, and specific co-factor requirements are described.
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TL;DR: The pachytene checkpoint prevents meiotic nuclear division in cells that fail to complete meiotic recombination and chromosome synapsis and prevents chromosome missegregation that would lead to the production of aneuploid gametes.
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TL;DR: A 'working draft' of the human genome sequence is now available and Comparisons with the sequences of mouse and other species will be a powerful approach to identifying functional segments of the noncoding regions, such as gene regulatory elements.
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TL;DR: The role of histone deacetylase (HDAC) complexes in the development of the human brain has been investigated in this paper, showing that these complexes have specific functions in development, rather than being required for most cellular processes.
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TL;DR: Technological changes have advanced protein expression studies and the identification of proteins in complexes, two types of studies that are essential in deciphering the networks of proteins that are involved in biological processes.
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TL;DR: This work investigates the relationship between the frequency of tRNA genes and dosage compensation on the X chromosome in C. elegans and the results suggest that the former are more predictive of disease than the latter.
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TL;DR: Understanding of the function of the Swi/Snf family of complexes is transformed and it is suggested that they control transcription in diverse ways.
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TL;DR: Questions regarding BRCA1 and BRCa2 biology remain, and their resolution is critical for clinical development, including why are the same genes required for embryonic proliferation and for tumor suppression.
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TL;DR: How studies of human PEX genes, their protein products and PBD cell lines are shaping current models of peroxisome biogenesis is discussed.
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TL;DR: This review focuses on present knowledge and perspectives concerning endoderm patterning and organogenesis.
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TL;DR: This description of the structure of human variation across populations and genomic regions will help to elucidate the evolutionary forces that shape patterns of variability and facilitate the design and interpretation of disease-mapping studies.
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TL;DR: Over forty years of research on the L-arabinose operon of Escherichia coli have provided insights into the mechanism of positive regulation of gene activity and the mechanism by which the regulatory protein changes its DNA-binding properties in response to the presence of arabinose.
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TL;DR: Evidence for alternative transposition from a number of unrelated but structurally similar TEs is reviewed, and the similarities betweenAlternative transposition and V(D)J recombination are discussed, as is the use of alternative transposable elements as a genetic tool.
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TL;DR: The goal of LocusLink and RefSeq is to include all known genes and their major products and to encourage collaborations with the scientific community to ensure that these resources are as comprehensive and accurate as possible.
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TL;DR: Interestingly, IRES elements are found in the mRNAs of several survival factors, oncogenes and proteins crucially involved in the control of apoptosis, suggesting that IRES-mediated translational control might have evolved to regulate cellular responses in acute but transient stress conditions that would otherwise lead to cell death.
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TL;DR: The insights that have come from standard molecular genetic experiments are reviewed and how the recently completed genome sequence has contributed to understanding of TGFβ-related pathways are discussed.
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TL;DR: The mammalian mitochondrial genome is a small double-stranded DNA molecule that is exclusively transmitted down the maternal line, and a woman harbouring one of these mutations transmits a variable amount of mutant mtDNA to each offspring.
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TL;DR: The analysis of mutant mice is bringing novel insights on the role of extracellular matrix (ECM) and integrin receptors during a variety of physiological processes, including embryonic development.
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TL;DR: Molecular genetic evidence from mouse and zebrafish on biological and biochemical roles of the EGF-CFC family is reviewed, and differing models for EGF -CFC protein function are discussed.