Abstract：
:A casual association has been established between mutations in the fibrillin 1 gene and Marfan syndrome and related phenotypes. Analysis of mutations in these disease types has provided new insights into microfibril assembly and function. These include evidence for a mutation in a fibrillin 1 domain associated with severe phenotype; indication of profibrillin processing by a furin-like endoprotease; linkage between extracellular processing and fibrillin 1 polymerization; and involvement of calcium binding in monomer stabilization and microfibril assembly. Identification of intragenic DNA polymorphisms and determination of intron/exon junction sequences have significantly improved our ability to diagnose Marfan syndrome and to detect fibrillin 1 mutations. Additional work has provided strong evidence for structural and functional heterogeneity of microfibrillin. The evidence includes the identification of fibrillin 2, a microfibrillar component structurally related to fibrillin 1; the differential pattern of gene expression of the two fibrillin; and the association of fibrillin 2 mutations with congenital contractural arachnodactyly.
journal_name
Curr Opin Genet Devjournal_title
Current opinion in genetics & developmentauthors
Ramirez Fdoi
10.1016/s0959-437x(96)80007-4subject
Has Abstractpub_date
1996-06-01 00:00:00pages
309-15issue
3eissn
0959-437Xissn
1879-0380pii
S0959-437X(96)80007-4journal_volume
6pub_type
杂志文章,评审abstract：:Long non-coding RNAs (ncRNAs) are emerging as important regulatory factors in mammalian genomics. A number of reports within the last 2 years have identified thousands of actively expressed long ncRNA transcripts with distinct properties. The long ncRNAs show differential expression patterns and regulation in a wide v...
journal_title：Current opinion in genetics & development
pub_type： 杂志文章,评审
doi：10.1016/j.gde.2011.01.020
更新日期：2011-04-01 00:00:00
abstract：:During development, embryos perform a mesmerizing choreography, which is crucial for the correct shaping, positioning and function of all organs. The cellular properties powering animal morphogenesis have been the focus of much attention. In contrast, much less consideration has been given to the invisible engine cons...
journal_title：Current opinion in genetics & development
pub_type： 杂志文章,评审
doi：10.1016/j.gde.2019.06.015
更新日期：2019-08-01 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：:For many years, biologists' efforts in achieving gene targeting by homologous recombination in multicellular organisms have been hampered by the difficulty in culturing pluripotent stem cells. Recent advances have eliminated this requirement for several animal species. For large mammals, cloning by nuclear transfer ha...
journal_title：Current opinion in genetics & development
pub_type： 杂志文章,评审
doi：10.1016/s0959-437x(03)00018-2
更新日期：2003-04-01 00:00:00
abstract：:Loss of the retinoblastoma protein, pRb, appears to have a role in several human tumor types. Mice lacking pRb have been produced as models of human disease, but have a different spectrum of affected tissues. Recent work shows that the tumorigenic effects of pRb may be revealed only after additional genetic alteration...
journal_title：Current opinion in genetics & development
pub_type： 杂志文章,评审
doi：10.1016/s0959-437x(95)90057-8
更新日期：1995-02-01 00:00:00
abstract：:The Selfish Operon Model postulates that the organization of bacterial genes into operons is beneficial to the constituent genes in that proximity allows horizontal cotransfer of all genes required for a selectable phenotype; eukaryotic operons formed for very different reasons. Horizontal transfer of selfish operons ...
journal_title：Current opinion in genetics & development
pub_type： 杂志文章,评审
doi：10.1016/s0959-437x(99)00025-8
更新日期：1999-12-01 00:00:00
abstract：:Nucleomorphs are the vestigial nuclear genomes of eukaryotic algal cells now existing as endosymbionts within a host cell. Molecular investigation of the endosymbiont genomes has allowed important insights into the process of eukaryote/eukaryote cell endosymbiosis and has also disclosed a plethora of interesting genet...
journal_title：Current opinion in genetics & development
pub_type： 杂志文章,评审
doi：10.1016/s0959-437x(97)80043-3
更新日期：1997-12-01 00:00:00
abstract：:Eukaryotic messenger RNA utilization is a tightly controlled process. Control of translation is exerted at several levels, but the predominant step is ribosome binding, which is rate limiting for translation of most mRNAs. There appear to be several alternative modes by which ribosomes bind to the mRNA and initiate tr...
journal_title：Current opinion in genetics & development
pub_type： 杂志文章,评审
doi：10.1016/s0959-437x(05)80059-0
更新日期：1994-04-01 00:00:00
abstract：:Family-based next generation sequencing (NGS) has recently pointed to an important role for de novo germline point mutations in both rare and common genetic disorders associated with reduced fitness. In this review we highlight the impact of the mutational target size on the frequency of diseases caused by these de no...
journal_title：Current opinion in genetics & development
pub_type： 杂志文章,评审
doi：10.1016/j.gde.2013.01.007
更新日期：2013-06-01 00:00:00
abstract：:Proteins, the main cell machinery which play a major role in nearly every cellular process, have always been a central focus in biology. We live in the post-genomic era, and inferring information from massive data sets is a steadily growing universal challenge. The increasing availability of fully sequenced genomes ca...
journal_title：Current opinion in genetics & development
pub_type： 杂志文章,评审
doi：10.1016/j.gde.2015.08.010
更新日期：2015-12-01 00:00:00
abstract：:Transcription is the first step in gene expression, and its regulation underlies multicellular development and the response to environmental changes. Most studies of transcriptional regulation have focused on the recruitment of RNA polymerase to promoters. However, recent work has shown that, for many promoters, post-...
journal_title：Current opinion in genetics & development
pub_type： 杂志文章,评审
doi：10.1016/j.gde.2007.12.008
更新日期：2008-04-01 00:00:00
abstract：:Most of the knowledge we have on the molecular mechanisms of transcription factor mediated reprogramming comes from studies conducted in induced pluripotency. Recently however, a few studies investigated the mechanisms of cellular reprogramming in direct and indirect transdifferentiation, which allows us to explore wh...
journal_title：Current opinion in genetics & development
pub_type： 杂志文章,评审
doi：10.1016/j.gde.2017.06.001
更新日期：2017-10-01 00:00:00
abstract：:The success of treatment of cancer patients depends on matching the most effective therapeutic regimen with the characteristics of the individual patient, balancing benefit against risk of adverse events. The primary challenge in achieving this goal is the heterogeneity of the disease, recognizing that breast, lung, c...
journal_title：Current opinion in genetics & development
pub_type： 杂志文章,评审
doi：10.1016/j.gde.2008.01.018
更新日期：2008-02-01 00:00:00
abstract：:TGFβ acts as a potent tumor suppressor and tumor promoter in a context dependent manner. Tumor suppressive functions include inhibition of cell proliferation, induction of apoptosis and regulation of autophagy. As tumors develop they switch their response to TGFβ and utilise this factor as a potent promoter of cell mo...
journal_title：Current opinion in genetics & development
pub_type： 杂志文章,评审
doi：10.1016/j.gde.2010.12.004
更新日期：2011-02-01 00:00:00
abstract：:Logical models provide insight about key control elements of biological networks. Based solely on the logical structure, we can determine state transition diagrams that give the allowed possible transitions in a coarse grained phase space. Attracting pathways and stable nodes in the state transition diagram correspond...
journal_title：Current opinion in genetics & development
pub_type： 杂志文章,评审
doi：10.1016/j.gde.2010.09.005
更新日期：2010-12-01 00:00:00
abstract：:Studies of primate lentivirus phylogeny over the past decade have established a minimum of five related, but genetically distinct, groups of simian immunodeficiency virus (SIV), each originating from a different African primate species. The hypothesis that HIV-2 (and SIVmac) arose by cross-species transmission from so...
journal_title：Current opinion in genetics & development
pub_type： 杂志文章,评审
doi：10.1016/0959-437x(95)80014-v
更新日期：1995-12-01 00:00:00
abstract：:The detection of sequence variation with restriction fragment length polymorphisms is advancing our knowledge of plant genetics on several fronts. In the past year, there has been progress in genetic map construction, phylogeny studies, and the dissection of multigenic traits. In addition, new methods that are indepen...
journal_title：Current opinion in genetics & development
pub_type： 杂志文章,评审
doi：10.1016/0959-437x(91)80051-m
更新日期：1991-06-01 00:00:00
abstract：:Eukaryotic organisms have the remarkable ability to inherit states of gene activity without altering the underlying DNA sequence. This epigenetic inheritance can persist over thousands of years, providing an alternative to genetic mutations as a substrate for natural selection. Epigenetic inheritance might be propagat...
journal_title：Current opinion in genetics & development
pub_type： 杂志文章,评审
doi：10.1016/j.gde.2005.07.002
更新日期：2005-10-01 00:00:00
abstract：:The discovery that rare POT1 variants are associated with extremely long telomeres and increased cancer predisposition has provided a framework to revisit the relationship between telomere length and cancer development. Telomere shortening is linked with increased risk for cancer. However, over the past decade, there ...
journal_title：Current opinion in genetics & development
pub_type： 杂志文章,评审
doi：10.1016/j.gde.2020.02.002
更新日期：2020-02-01 00:00:00
abstract：:Mutant onco-proteins play a direct, causal role in cancer and are therefore considered attractive drug targets. Clinical experience has supported this view, with some exceptions. However, clinical benefit has often been restricted by rapid emergence of drug-resistant clones through several distinct mechanisms. This pr...
journal_title：Current opinion in genetics & development
pub_type： 杂志文章,评审
doi：10.1016/j.gde.2010.12.002
更新日期：2011-02-01 00:00:00
abstract：:Several decades of research provided detailed insight into how genes control development and evolution, whereas recent studies have expanded this purely genetic perspective by presenting strong evidence for environmental and epigenetic influences. We summarize examples of phenotypic plasticity and trans-generational e...
journal_title：Current opinion in genetics & development
pub_type： 杂志文章,评审
doi：10.1016/j.gde.2017.03.001
更新日期：2017-08-01 00:00:00
abstract：:In metazoans, lineage-specific transcription factors and epigenetic modifiers function to establish and maintain proper gene expression programs during development. Recent landmark studies in both mouse and human have defined a set of transcription factors whose ectopic expression by retroviral transduction is capable...
journal_title：Current opinion in genetics & development
pub_type： 杂志文章,评审
doi：10.1016/j.gde.2008.01.013
更新日期：2008-04-01 00:00:00
abstract：:An epigenetic imprinting mechanism that is based on a gamete-specific methylation imprint restricts expression of a subset of mammalian genes to one parental chromosome. Recent results suggest that imprints may act only indirectly to induce monoallelic expression of coding genes. Instead, atypical non-coding RNAs appe...
journal_title：Current opinion in genetics & development
pub_type： 杂志文章,评审
doi：10.1016/s0959-437x(00)00062-9
更新日期：2000-04-01 00:00:00
abstract：:Cellular phenotypes can critically rely on mono-allelic gene expression. Recent studies suggest that in mammalian cells inter-chromosomal DNA interactions may mediate the decision which allele to activate and which to silence. Here, these findings are discussed in the context of knowledge on gene competition, chromati...
journal_title：Current opinion in genetics & development
pub_type： 杂志文章,评审
doi：10.1016/j.gde.2007.07.009
更新日期：2007-10-01 00:00:00
abstract：:Many zebrafish transcription factors have been isolated, and the challenge at present is to uncover the genes and pathways they regulate. The wealth of developmental mutants available for study and recent advances in zebrafish transgenic technology have allowed identification of putative transcriptional regulatory pat...
journal_title：Current opinion in genetics & development
pub_type： 杂志文章,评审
doi：10.1016/s0959-437x(99)00017-9
更新日期：1999-10-01 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：:The eukaryotic nucleus is a highly compartmentalized and dynamic environment. Chromosome territories are arranged nonrandomly within the nucleus and numerous studies have indicated that a gene's position in the nucleus can impact its transcriptional activity. Here, we focus on recent advances in our understanding of t...
journal_title：Current opinion in genetics & development
pub_type： 杂志文章,评审
doi：10.1016/j.gde.2009.02.007
更新日期：2009-04-01 00:00:00
abstract：:The generation of induced pluripotent stem cells (iPSCs) with Oct4, Sox2, Klf4, c-Myc has been described as 'direct' reprogramming in contrast to reprogramming via nuclear transfer. Interestingly, recent studies have suggested that the conversion process itself includes transient up-regulation and down-regulation of h...
journal_title：Current opinion in genetics & development
pub_type： 杂志文章,评审
doi：10.1016/j.gde.2014.08.006
更新日期：2014-10-01 00:00:00
abstract：:Recent reprogramming studies indicate that mammalian, somatic cells have the potential to achieve pluripotent states and undergo cell type switching. Such cellular traits are observed under natural conditions in animals that regenerate complex organs. A number of invertebrates display the amazing trait of whole body r...
journal_title：Current opinion in genetics & development
pub_type： 杂志文章,评审
doi：10.1016/j.gde.2012.09.006
更新日期：2012-10-01 00:00:00
abstract：:Many acquired and familial renal diseases in man lead to kidney dysfunction and nephrotic syndrome. These diseases share a common pathological fate in the form of glomerular dysfunction and proteinuria. Classification of the disease is difficult because the onset of pathological appearance in congenital nephrotic synd...
journal_title：Current opinion in genetics & development
pub_type： 杂志文章,评审
doi：10.1016/s0959-437x(00)00197-0
更新日期：2001-06-01 00:00:00
