Abstract：
:X-linked mental retardation (XLMR) is a common cause of moderate to severe intellectual disability in males. XLMR is very heterogeneous, and about two-thirds of patients have clinically indistinguishable non-syndromic (NS-XLMR) forms, which has greatly hampered their molecular elucidation. A few years ago, international consortia overcame this impasse by collecting DNA and cell lines from large cohorts of XLMR families, thereby paving the way for the systematic study of the molecular causes of XLMR. Mutations in known genes might already account for 50% of the families with NS-XLMR, and various genes have been pinpointed that seem to be of particular diagnostic importance. Eventually, even therapy of XLMR might become possible, as suggested by the unexpected plasticity of the neuronal wiring in the brain, and the recent successful drug treatment of a fly model for fragile X syndrome.
journal_name
Curr Opin Genet Devjournal_title
Current opinion in genetics & developmentauthors
Ropers HHdoi
10.1016/j.gde.2006.04.017subject
Has Abstractpub_date
2006-06-01 00:00:00pages
260-9issue
3eissn
0959-437Xissn
1879-0380pii
S0959-437X(06)00077-3journal_volume
16pub_type
杂志文章,评审abstract：:Our understanding of the mechanism of action of retinoids has been greatly expanded by a series of recent findings. First, the three-dimensional structure of the ligand-binding domain of two retinoid receptors has been solved and suggests that ligand binding induces marked allosteric changes. Second, several co-factor...
journal_title：Current opinion in genetics & development
pub_type： 杂志文章,评审
doi：10.1016/s0959-437x(96)80085-2
更新日期：1996-10-01 00:00:00
abstract：:Subtelomeres are the regions at chromosome ends, immediately adjacent to the terminal telomeric repeats. The majority of human subtelomeres are CpG-rich in their distal two kilobases, and are methylated during early embryonic development by the de novo DNA methyltransferase DNMT3B. The biological relevance of subtelom...
journal_title：Current opinion in genetics & development
pub_type： 杂志文章,评审
doi：10.1016/j.gde.2020.02.004
更新日期：2020-02-01 00:00:00
abstract：:Ras proteins activate a signaling cascade through direct binding of the serine/threonine kinase Raf. They also activate additional signaling pathways that are essential for full biological activity. Candidate effectors for these pathways include RalGDS and phosphatidyl inositol 3' kinase, as well as several other Ras ...
journal_title：Current opinion in genetics & development
pub_type： 杂志文章,评审
doi：10.1016/s0959-437x(97)80112-8
更新日期：1997-02-01 00:00:00
abstract：:Expansions of microsatellite DNA repeats contribute to the inheritance of nearly 30 developmental and neurological disorders. Significant progress has been made in elucidating the molecular mechanisms of repeat expansions using various model organisms and mammalian cell culture, and models implicating nearly all DNA t...
journal_title：Current opinion in genetics & development
pub_type： 杂志文章,评审
doi：10.1016/j.gde.2013.04.009
更新日期：2013-06-01 00:00:00
abstract：:Understanding the past is to understand the present. Mammalian life, with all its complexity comes from a humble beginning of a single fertilized egg cell. Achieving this requires an enormous diversification of cellular function, the majority of which is generated through a series of cellular decisions during embryoge...
journal_title：Current opinion in genetics & development
pub_type： 杂志文章,评审
doi：10.1016/j.gde.2015.08.002
更新日期：2015-10-01 00:00:00
abstract：:The formation of new blood vessels through the process of angiogenesis is critical in vascular development and homeostasis. Aberrant angiogenesis leads to a variety of diseases, such as ischemia and cancer. Recent studies have revealed important roles for miRNAs in regulating endothelial cell (EC) function, especially...
journal_title：Current opinion in genetics & development
pub_type： 杂志文章,评审
doi：10.1016/j.gde.2009.04.002
更新日期：2009-06-01 00:00:00
abstract：:Microsatellites may soon become the markers of choice for molecular population genetic studies. However, our knowledge of these simple repetitive sequences and how they evolve in natural populations is far from complete. We highlight some recent results of population studies and advances in our ability to interpret so...
journal_title：Current opinion in genetics & development
pub_type： 杂志文章,评审
doi：10.1016/0959-437x(93)90017-j
更新日期：1993-12-01 00:00:00
abstract：:Cornelia de Lange Syndrome (CdLS) is a rare multiple malformation disorder with characteristic facial features, growth and cognitive retardation, and many other abnormalities. CdLS individuals were recently shown to have heterozygous mutations in a previously uncharacterised gene, NIPBL, which encodes delangin, a homo...
journal_title：Current opinion in genetics & development
pub_type： 杂志文章,评审
doi：10.1016/j.gde.2005.04.005
更新日期：2005-06-01 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：: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：: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：:The relationships among in vivo chromatin structures, chromosome organization and genome function must be understood in order to reveal the hidden regulatory information in our genomes. Rather than being stable architectural features, it appears that chromatin and chromosome conformations at all levels are highly dyna...
journal_title：Current opinion in genetics & development
pub_type： 杂志文章,评审
doi：10.1016/j.gde.2006.08.002
更新日期：2006-10-01 00:00:00
abstract：:Recent studies have uncovered a bifunctional role of the diffusible axon guidance molecules netrin-1 and UNC-6 in that they attract some axons and steer others away simultaneously. Homology screens have extended the semaphorin and collapsin family to include at least 20 members, in both secreted and membrane-bound for...
journal_title：Current opinion in genetics & development
pub_type： 杂志文章,评审
doi：10.1016/s0959-437x(96)80069-4
更新日期：1996-08-01 00:00:00
abstract：:Notch signaling has been implicated in a wide variety of processes from cell-fate decisions, tissue patterning and morphogenesis to human diseases and cancer. A model for Notch directly regulating gene expression has been proposed and at least two signaling pathways have been identified; however, the molecular mechani...
journal_title：Current opinion in genetics & development
pub_type： 杂志文章,评审
doi：10.1016/s0959-437x(98)80115-9
更新日期：1998-08-01 00:00:00
abstract：:The recent flood of information concerning Saccharomyces cerevisiae replication origins and the proteins that interact with them contrasts alarmingly to the trickle of progress in our understanding of metazoan origins. In mammalian cells, origins are complex and heterogeneous, and appear to be selected by features of ...
journal_title：Current opinion in genetics & development
pub_type： 杂志文章,评审
doi：10.1016/s0959-437x(98)80141-x
更新日期：1998-04-01 00:00:00
abstract：:The advent of methods for mapping the location of specific proteins across genomes is substantially enlightening our understanding of gene regulation. One recent discovery is that Pol II is concentrated at the 5' end of thousands of genes in mammalian and Drosophila cells. Before this, much research had focused on und...
journal_title：Current opinion in genetics & development
pub_type： 杂志文章,评审
doi：10.1016/j.gde.2011.01.010
更新日期：2011-04-01 00:00:00
abstract：:Over the last decade we have witnessed the convergence of two powerful experimental designs toward a common goal of defining the molecular subtypes that underpin the likelihood of a cancer patient responding to treatment in the clinic. The first of these 'experiments' has been the systematic sequencing of large number...
journal_title：Current opinion in genetics & development
pub_type： 杂志文章,评审
doi：10.1016/j.gde.2013.12.002
更新日期：2014-02-01 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：:The conversion of one cell type to another is defined as metaplasia (or sometimes it is referred to as transdifferentiation or cellular reprogramming). Metaplasia is important clinically and may predispose to the development of cancer. Barrett's metaplasia is one such example and is the focus of the present review. Ba...
journal_title：Current opinion in genetics & development
pub_type： 杂志文章,评审
doi：10.1016/j.gde.2012.08.001
更新日期：2012-10-01 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
abstract：:The past few years have been significant advances in our understanding of eukaryotic genomes. In the field of parasitology, this is best exemplified by the application of genome mapping techniques to the study of genome structure and function in the protozoan parasite, Leishmania. Although much is known about the orga...
journal_title：Current opinion in genetics & development
pub_type： 杂志文章,评审
doi：10.1016/s0959-437x(96)80024-4
更新日期：1996-12-01 00:00:00
abstract：:Colonial ascidians are marine invertebrate chordates that are the closest invertebrate relative to the vertebrates. Colonies of Botryllus schlosseri undergo a continuous asexual reproduction process that involves the regeneration of entire new bodies, which include all somatic and germline tissues. This adult regenera...
journal_title：Current opinion in genetics & development
pub_type： 杂志文章,评审
doi：10.1016/j.gde.2016.06.001
更新日期：2016-08-01 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：:Individual susceptibility to cancer in humans is determined by complex interactions between germline genetic variation and levels of exposure to environmental carcinogens or tumour promoters. Only a small fraction of cancer susceptibility is inherited in a Mendelian manner (high-penetrance familial cancer), and most t...
journal_title：Current opinion in genetics & development
pub_type： 杂志文章,评审
doi：10.1016/s0959-437x(03)00005-4
更新日期：2003-02-01 00:00:00
abstract：:The mammalian genome is folded into topological domains, chromosomal units that probably serve to spatially accommodate enhancer-promoter interactions and control gene expression levels across cell populations. Longer-range contacts beyond topological domains are also formed, but only in subpopulations of cells. We pr...
journal_title：Current opinion in genetics & development
pub_type： 杂志文章,评审
doi：10.1016/j.gde.2012.12.010
更新日期：2013-04-01 00:00:00
abstract：:In eukaryotic cells, transcription and DNA replication occur on DNA templates associated with chromatin proteins, most notably histone octamers. Protein factors that can assemble these units have been isolated from many sources. In particular, one factor from human cells is associated with ongoing DNA synthesis; other...
journal_title：Current opinion in genetics & development
pub_type： 杂志文章,评审
doi：10.1016/s0959-437x(05)80049-8
更新日期：1994-04-01 00:00:00
abstract：:The recent discovery of self-splicing introns in cyanobacteria has given renewed interest to the question of whether introns may have been present in the ancestor of all living things. The properties of introns in genes of bacteria and bacteriophages are discussed in the context of their possible origin and biological...
journal_title：Current opinion in genetics & development
pub_type： 杂志文章,评审
doi：10.1016/s0959-437x(05)80195-9
更新日期：1991-12-01 00:00:00
abstract：:The advent of gene targeting in the mouse has led to rapid advances in the identification of factors controlling gene expression that are essential for normal hematopoietic development. Recent work has also uncovered roles for some of these factors in leukemogenesis and in the global regulation of chromatin structure....
journal_title：Current opinion in genetics & development
pub_type： 杂志文章,评审
doi：10.1016/s0959-437x(99)00008-8
更新日期：1999-10-01 00:00:00
abstract：:Ten years after the initial description of acquired immune deficiency syndrome, its causative agent, the human immunodeficiency virus, remains the subject of intense scientific interest. Recent research has focused on the detailed analysis of the molecular principles governing gene expression and virion formation and ...
journal_title：Current opinion in genetics & development
pub_type： 杂志文章,评审
doi：10.1016/s0959-437x(05)80327-2
更新日期：1992-02-01 00:00:00
abstract：:D-type cyclin homologs have been found in the genomes of herpesviruses associated with neoplasias. They appear to exploit features of G(1) cyclins but extend their properties to allow for deregulation of the cell cycle. Advances in the study of the molecular basis for these novel features as well as the potential role...
journal_title：Current opinion in genetics & development
pub_type： 杂志文章,评审
doi：10.1016/s0959-437x(99)00045-3
更新日期：2000-02-01 00:00:00
