Abstract:
:Identification of new genes involved in muscle disorders has dramatically changed the traditional clinical classification of the large and heterogeneous group of the muscular dystrophies. Results obtained in recent years by positional candidate cloning have demonstrated the role of the sarcolemma and of the nuclear envelope in normal muscle function and have elucidated molecular pathways perturbed by mutations that lead to muscular dystrophy.
journal_name
Curr Opin Genet Devjournal_title
Current opinion in genetics & developmentauthors
Toniolo D,Minetti Cdoi
10.1016/s0959-437x(99)80041-0subject
Has Abstractpub_date
1999-06-01 00:00:00pages
275-82issue
3eissn
0959-437Xissn
1879-0380pii
gd9313journal_volume
9pub_type
杂志文章,评审abstract::All the aspects of transcription are controlled by complexes that modify or remodel chromatin at the level of individual genes, gene clusters, or whole chromosomes. The MSL complex that is responsible for dosage compensation in Drosophila is an example of complexes that operate at the whole-chromosome level on the tra...
journal_title:Current opinion in genetics & development
pub_type: 杂志文章,评审
doi:10.1016/j.gde.2009.10.004
更新日期:2009-12-01 00:00:00
abstract::Microarray technologies enable genome-scale expression measurements. Already proved to be of value for the functional analysis of individual genes and biological processes, the application of expression profiling to disease gene discovery is now growing in importance and practicality. ...
journal_title:Current opinion in genetics & development
pub_type: 杂志文章,评审
doi:10.1016/s0959-437x(00)00187-8
更新日期:2001-06-01 00:00:00
abstract::It has been shown recently that some plant transcription factors that regulate cell fate during development can traffic through plasmodesmata-the intercellular channels that connect plant cells. This phenomenon helps explain the non-autonomous effects of many developmental mutations in plants and defines a novel mecha...
journal_title:Current opinion in genetics & development
pub_type: 杂志文章,评审
doi:10.1016/s0959-437x(97)80076-7
更新日期:1997-08-01 00:00:00
abstract::In this review we discuss the importance of genetic somatic mosaicism and its impact on brain diseases. We start from introducing the different types of somatic mutations, their frequencies and abundances across development and lifespan. We then describe how weakness in DNA repair mechanisms influences their prevalenc...
journal_title:Current opinion in genetics & development
pub_type: 杂志文章,评审
doi:10.1016/j.gde.2020.05.002
更新日期:2020-12-01 00:00:00
abstract::Both complex disorders and monogenetic diseases are often modulated in their phenotype by further genetic, epigenetic or extrinsic factors. This gives rise to extensive phenotypic variability and potentially protection from disease manifestations, known as incomplete penetrance. Approaches including whole transcriptom...
journal_title:Current opinion in genetics & development
pub_type: 杂志文章,评审
doi:10.1016/j.gde.2013.03.003
更新日期:2013-06-01 00:00:00
abstract::The ciliated protozoa undergo an extensive genome reorganization during the course of forming a transcriptionally active macronucleus. The process includes numerous chromosome fragmentation and DNA breakage and rejoining events. Recent work indicates that transposable elements play a role in the process. ...
journal_title:Current opinion in genetics & development
pub_type: 杂志文章,评审
doi:10.1016/s0959-437x(05)80306-5
更新日期:1991-10-01 00:00:00
abstract::Genetic conflicts arise when the evolutionary interests of two genetic elements are not aligned. Conflicts between genomes (e.g. pathogen versus host) or within the same genome (e.g. internal parasitic DNA sequences versus the rest of the host genome) can both foster 'molecular arms races', in which genes on both side...
journal_title:Current opinion in genetics & development
pub_type: 杂志文章,评审
doi:10.1016/j.gde.2019.07.011
更新日期:2019-10-01 00:00:00
abstract::Models in developmental biology continue to yield valuable insights, yet do not play a strong role as guides to experiment. This may be because of the largely unexplored complexity of most developing organisms, and the fact that the most powerful models work at a very abstract level. In Dictyostelium discoideum, howev...
journal_title:Current opinion in genetics & development
pub_type: 杂志文章,评审
doi:10.1016/s0959-437x(05)80186-8
更新日期:1992-08-01 00:00:00
abstract::Retrotransposons are mutagenic units able to move within the genome. Despite many defenses deployed by the host to suppress potentially harmful activities of retrotransposons, these genetic units have found ways to meld with normal cellular functions through processes of exaptation and domestication. The same host mec...
journal_title:Current opinion in genetics & development
pub_type: 杂志文章,评审
doi:10.1016/j.gde.2016.01.001
更新日期:2016-04-01 00:00:00
abstract::Genomic information from ancient human remains is beginning to show its full potential for learning about human prehistory. We review the last few years' dramatic finds about European prehistory based on genomic data from humans that lived many millennia ago and relate it to modern-day patterns of genomic variation. T...
journal_title:Current opinion in genetics & development
pub_type: 历史文章,杂志文章,评审
doi:10.1016/j.gde.2016.09.004
更新日期:2016-12-01 00:00:00
abstract::Tumor blood vessels have multiple structural and functional abnormalities. They are unusually dynamic, and naturally undergo sprouting, proliferation, remodeling or regression. The vessels are irregularly shaped, tortuous, and lack the normal hierarchical arrangement of arterioles, capillaries and venules. Endothelial...
journal_title:Current opinion in genetics & development
pub_type: 杂志文章,评审
doi:10.1016/j.gde.2004.12.005
更新日期:2005-02-01 00:00:00
abstract::Multicellularity has evolved multiple times independently from a variety of ancestral unicellular lineages. Past research on multicellularity was focused more on explaining why it was repeatedly invented and less so on the molecular foundations associated with each transition. Several recent comparative functional ana...
journal_title:Current opinion in genetics & development
pub_type: 杂志文章,评审
doi:10.1016/j.gde.2008.09.004
更新日期:2008-12-01 00:00:00
abstract::During embryogenesis, tissues and organs are progressively shaped into their functional morphologies. While the information about tissue and organ shape is encoded genetically, the sculpting of embryonic structures in the 3D space is ultimately a physical process. The control of physical quantities involved in tissue ...
journal_title:Current opinion in genetics & development
pub_type: 杂志文章,评审
doi:10.1016/j.gde.2018.09.002
更新日期:2018-08-01 00:00:00
abstract::Flowers are central to sexual reproduction in plants. The study of floral development proved tremendously successful in obtaining key insight into processes, such as fate determination, pattern formation, and growth regulation. Recent advances relate to the complex mechanisms underlying the crosstalk between phytohorm...
journal_title:Current opinion in genetics & development
pub_type: 杂志文章,评审
doi:10.1016/j.gde.2015.01.001
更新日期:2015-06-01 00:00:00
abstract::This is the year of the chimpanzee genome. Chimpanzee chromosome 22 has been sequenced and soon will be followed by the whole genome, and thousands of chimpanzee cDNA sequences are available for comparative analysis. Not only does this genomic information allow us to identify human-specific changes in particular genes...
journal_title:Current opinion in genetics & development
pub_type: 杂志文章,评审
doi:10.1016/j.gde.2004.08.007
更新日期:2004-12-01 00:00:00
abstract::Premutation alleles (55-200 CGG repeats) of the fragile X mental retardation 1 gene (FMR1) are known to contribute to the fragile X phenotype through genetic instability and transmission of full mutation alleles (>200 repeats). There is now mounting evidence that the premutation alleles themselves contribute to clinic...
journal_title:Current opinion in genetics & development
pub_type: 杂志文章,评审
doi:10.1016/s0959-437x(02)00299-x
更新日期:2002-06-01 00:00:00
abstract::Multiple histone-modifying enzymes have been identified in the past several years. Much has been learned regarding the biochemistry of these enzymes and their effects on gene expression in cultured cells. However, the functions of these factors during development are still largely unknown. Recent genetic studies indic...
journal_title:Current opinion in genetics & development
pub_type: 杂志文章,评审
doi:10.1016/j.gde.2006.02.002
更新日期:2006-04-01 00:00:00
abstract::There has been much recent progress in our understanding of the role played by the RAS-RAF-MEK-ERK cascade in human cancer. RAS is an oncogene and this pathway is known to promote proliferation and malignant transformation. More recently, however, RAF has become the focus of attention, particularly in melanoma, where ...
journal_title:Current opinion in genetics & development
pub_type: 杂志文章,评审
doi:10.1016/j.gde.2006.12.005
更新日期:2007-02-01 00:00:00
abstract::Segmentation in Drosophila is a sequential process directed by at least 30 genes that encode various types of proteins, including: many transcription factors; a putative RNA-binding protein; a membrane-associated receptor kinase; several intracellular protein kinases; a number of secreted signaling molecules; and othe...
journal_title:Current opinion in genetics & development
pub_type: 杂志文章,评审
doi:10.1016/0959-437x(93)90094-6
更新日期:1993-08-01 00:00:00
abstract::In the past few years, the area of comparative genomics of malaria parasites has begun to come of age, with the completion of genome sequencing projects of four Plasmodium species, and several functional genomics studies. A picture is emerging of a parasite genome that is highly adapted to its mammalian and vector hos...
journal_title:Current opinion in genetics & development
pub_type: 杂志文章,评审
doi:10.1016/j.gde.2005.09.001
更新日期:2005-12-01 00:00:00
abstract::Following neurulation, neural crest cells emerge from the neural tube and undergo extensive migrations. At the onset of migration, multipotent stem cells exist within the neural crest population. Eventually, these assume one of a number of possible fates, ranging from neurons and glia of the peripheral nervous system ...
journal_title:Current opinion in genetics & development
pub_type: 杂志文章,评审
doi:10.1016/0959-437x(93)90101-t
更新日期:1993-08-01 00:00:00
abstract::Hox proteins regulate specific sets of target genes to give rise to morphological distinctions along the anterior-posterior body axis of metazoans. Though they have high developmental specificity, Hox proteins have low DNA binding specificity, so how they select the appropriate target genes has remained enigmatic. The...
journal_title:Current opinion in genetics & development
pub_type: 杂志文章,评审
doi:10.1016/j.gde.2005.06.009
更新日期:2005-08-01 00:00:00
abstract::There are several enzymes, acetylases and deacetylases, that can regulate transcription by modifying the acetylation state of histones or other promoter-bound transcription factors. Some of these enzymes are present in multisubunit complexes. Recent efforts to understand the biological role of these enzymes reveals th...
journal_title:Current opinion in genetics & development
pub_type: 杂志文章,评审
doi:10.1016/s0959-437x(99)80006-9
更新日期:1999-02-01 00:00:00
abstract::A rooted phylogenetic tree of the kinetoplastid protozoa has been constructed that, together with a comparative analysis of editing of several genes, leads to the surprising conclusion that extensive or pan-editing with multiple overlapping guide RNAs is more ancient than 5'-editing. The mechanism of editing is still ...
journal_title:Current opinion in genetics & development
pub_type: 杂志文章,评审
doi:10.1016/0959-437x(94)90075-2
更新日期:1994-12-01 00:00:00
abstract::Cell-cell and starvation signals are funneled through the phosphorelay to initiate sporulation by activating the transcription regulator SpoOA. Activation of SpoOA leads to synthesis of the transcription factors sigmaF and sigmaE. Substantial advances have been made in our understanding of the signal circuitry of the ...
journal_title:Current opinion in genetics & development
pub_type: 杂志文章,评审
doi:10.1016/s0959-437x(96)80080-3
更新日期:1996-10-01 00:00:00
abstract::The human genome is replete with interspersed repetitive sequences derived from the propagation of mobile DNA elements. Three families of human retrotransposons remain active today: LINE1, Alu, and SVA elements. Since 1988, de novo insertions at previously recognized disease loci have been shown to generate highly pen...
journal_title:Current opinion in genetics & development
pub_type: 杂志文章,评审
doi:10.1016/j.gde.2013.02.007
更新日期:2013-06-01 00:00:00
abstract::The induction of an appropriate cellular response to a stimulus often depends on the intricate interplay between multiple signaling pathways. Recent work utilizing Caenorhabditis elegans has enabled the identification of points of convergence between signaling pathways and permitted the elucidation of how multiple sig...
journal_title:Current opinion in genetics & development
pub_type: 杂志文章,评审
doi:10.1016/s0959-437x(00)00122-2
更新日期:2000-10-01 00:00:00
abstract::There have been remarkably rapid advances in the understanding of prion diseases over the past year. The controversial notion that the transmissible agent may be an abnormal isoform of a host-encoded protein, the prion protein, is now gaining wide acceptance. The conundrum of how a disease can both be inherited as an ...
journal_title:Current opinion in genetics & development
pub_type: 杂志文章,评审
doi:10.1016/s0959-437x(05)80156-x
更新日期:1992-06-01 00:00:00
abstract::Recent research has broadened significantly our understanding of how the somite, a specialized mesodermal structure found in vertebrate embryos, gives rise to the cartilage, muscle and tendon cell lineages. The specification of somite derivatives involves the action of patterning signals secreted from adjacent tissue ...
journal_title:Current opinion in genetics & development
pub_type: 杂志文章,评审
doi:10.1016/s0959-437x(02)00339-8
更新日期:2002-10-01 00:00:00
abstract::A wealth of pharmacological data point to the involvement of catecholamine metabolism in a number of psychiatric and behavioral disorders. Furthermore, evidence points to many of these affective disorders having a moderate to large genetic component. These observations have provided the impetus to search for differenc...
journal_title:Current opinion in genetics & development
pub_type: 杂志文章,评审
doi:10.1016/0959-437x(94)90031-0
更新日期:1994-06-01 00:00:00