Abstract:
:RET mutations have been identified as the underlying cause of two congenital diseases that predominately affect tissues of neural crest origin: the MEN 2 cancer syndromes and a proportion of cases of dominantly inherited Hirschsprung disease, a disorder of gut development. This review summarizes the disease-causing mutations and our present understanding of their possible effects on RET protein function.
journal_name
Curr Opin Genet Devjournal_title
Current opinion in genetics & developmentauthors
Mak YF,Ponder BAdoi
10.1016/s0959-437x(96)90015-5subject
Has Abstractpub_date
1996-02-01 00:00:00pages
82-6issue
1eissn
0959-437Xissn
1879-0380pii
S0959-437X(96)90015-5journal_volume
6pub_type
杂志文章,评审abstract::The specification of cell fate is integral to embryonic development. Recent research has identified several molecules that are involved in the development of the embryonic vasculature. Their combined actions are required for the specification and development of the arteries, veins and lymphatic vessels; vascular netwo...
journal_title:Current opinion in genetics & development
pub_type: 杂志文章,评审
doi:10.1016/j.gde.2004.07.005
更新日期:2004-10-01 00:00:00
abstract::After fertilization, mouse embryos go through preimplantation development to give rise to blastocyst. Two key molecular events, zygotic genome activation (ZGA) and the first cell lineage specification, are essential for the process. Recent advances in low-input epigenomics profiling techniques allow the analysis of th...
journal_title:Current opinion in genetics & development
pub_type: 杂志文章,评审
doi:10.1016/j.gde.2020.05.015
更新日期:2020-10-01 00:00:00
abstract::The genomic variability of Southern African groups is characterized by an exceptional degree of diversity, which is the result of long-term local evolutionary history, migrations and gene-flow. Over the last few years several investigations have identified and described signatures related to these processes, revealing...
journal_title:Current opinion in genetics & development
pub_type: 杂志文章,评审
doi:10.1016/j.gde.2018.11.003
更新日期:2018-12-01 00:00:00
abstract::Cardiovascular morphogenesis involves cell behavior and cell identity changes that are activated by mechanical forces associated with heart function. Recently, advances in in vivo imaging, methods to alter blood flow, and computational modelling have greatly advanced our understanding of how forces produced by heart c...
journal_title:Current opinion in genetics & development
pub_type: 杂志文章,评审
doi:10.1016/j.gde.2019.08.002
更新日期:2019-08-01 00:00:00
abstract::The DNA damage response (DDR) orchestrates DNA repair and halts cell cycle. If damage is not resolved, cells can enter into an irreversible state of proliferative arrest called cellular senescence. Organismal ageing in mammals is associated with accumulation of markers of cellular senescence and DDR persistence at tel...
journal_title:Current opinion in genetics & development
pub_type: 杂志文章,评审
doi:10.1016/j.gde.2014.06.009
更新日期:2014-06-01 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::The MCM2-7 complex, which may act as a replicative helicase during DNA synthesis, plays a central role in S-phase genome stability. MCM proteins are required for processive DNA replication and are a target of S-phase checkpoints. Loss of MCM function causes DNA damage and genome instability. MCM expression is upregula...
journal_title:Current opinion in genetics & development
pub_type: 杂志文章,评审
doi:10.1016/j.gde.2003.11.002
更新日期:2004-02-01 00:00:00
abstract::The Myc oncoprotein dimerizes with its partner, Max, to bind DNA, activate transcription, and promote cell proliferation, as well as programmed cell death. Max also forms homodimers or heterodimers with its alternative partners, Mad and Mxi-1. These complexes behave as antagonists of Myc/Max through competition for co...
journal_title:Current opinion in genetics & development
pub_type: 杂志文章,评审
doi:10.1016/0959-437x(94)90098-1
更新日期:1994-02-01 00:00:00
abstract::Centromeres represent the final frontier of eukaryotic genomes. Although they are defining features of chromosomes--the points at which spindle microtubules attach--the fundamental features that distinguish them from other parts of the chromosome remain mysterious. The function of centromeres is conserved throughout e...
journal_title:Current opinion in genetics & development
pub_type: 杂志文章,评审
doi:10.1016/j.gde.2005.01.004
更新日期:2005-04-01 00:00:00
abstract::The advent of the genomics age has greatly facilitated the study of crop evolution. While full-scale genome sequencing projects are underway for just a handful of crop plants, recent years have witnessed a tremendous increase in the availability of DNA sequence data for virtually all major crops. Such resources have b...
journal_title:Current opinion in genetics & development
pub_type: 杂志文章,评审
doi:10.1016/j.gde.2007.09.003
更新日期:2007-12-01 00:00:00
abstract::Autoimmunity is a complex disease process that results from a breakdown in the ability of the immune system to discriminate self from non-self. One approach to unraveling how autoimmunity occurs is to study monogenic diseases, for which a single gene defect is responsible. Recent work on the monogenic autoimmune disea...
journal_title:Current opinion in genetics & development
pub_type: 杂志文章,评审
doi:10.1016/j.gde.2007.04.001
更新日期:2007-06-01 00:00:00
abstract::Novel mechanisms, and molecular mediators, of the pro-tumorigenic effects of cancer-associated fibroblasts (CAFs) have been identified. These include CXCL12/SDF-1-mediated recruitment of bone marrow-derived endothelial precursor cell and pro-metastatic effects of CCL5. Co-culture experiments also suggest that CAFs can...
journal_title:Current opinion in genetics & development
pub_type: 杂志文章,评审
doi:10.1016/j.gde.2009.01.003
更新日期:2009-02-01 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::During the past year, significant advances have been made in understanding the functions of the oncoproteins, E6 and E7, of human papillomaviruses that are associated with malignant genital tumors. In addition, important new information is now available on the responses of both the keratinocyte and of the individual f...
journal_title:Current opinion in genetics & development
pub_type: 杂志文章,评审
doi:10.1016/s0959-437x(05)80329-6
更新日期:1992-02-01 00:00:00
abstract::Baculoviruses continue to serve as workhorse vectors for the high-level expression of eukaryotic genes in insect cells; however, numerous researchers are also finding novel uses for these vectors by taking advantage of the unique nature of the viruses and their host cells. Concurrently, the technology involved in cons...
journal_title:Current opinion in genetics & development
pub_type: 杂志文章,评审
doi:10.1016/s0959-437x(05)80348-x
更新日期:1993-02-01 00:00:00
abstract::Eukaryotic genomes encode genetic information in their linear sequence, but appropriate expression of their genes requires chromosomes to fold into complex three-dimensional structures. Fueled by a growing collection of sequencing and imaging-based technologies, studies have uncovered a hierarchy of DNA interactions, ...
journal_title:Current opinion in genetics & development
pub_type: 杂志文章,评审
doi:10.1016/j.gde.2020.03.005
更新日期:2020-04-01 00:00:00
abstract::Plant genomes exhibit tremendous diversity in both their size and structure, with genome sizes across land plants ranging over two to three orders of magnitude and significant variation in structural organization was observed across species (EA Kellogg, JL Bennetzen, The evolution of nuclear genome structure in seed p...
journal_title:Current opinion in genetics & development
pub_type: 杂志文章,评审
doi:10.1016/j.gde.2008.11.005
更新日期:2008-12-01 00:00:00
abstract::Cancer remains one of the leading causes of death in the developed world and despite impressive advances in therapeutic modalities, only a small subset of patients are currently cured. The underlying genetic heterogeneity of cancers clearly plays a crucial role in determining both the clinical course of individual pat...
journal_title:Current opinion in genetics & development
pub_type: 杂志文章,评审
doi:10.1016/j.gde.2020.02.012
更新日期:2020-02-01 00:00:00
abstract::Human pluripotent stem cells derived from embryos (human Embryonic Stem Cells or hESCs) or generated by direct reprogramming of somatic cells (human Induced Pluripotent Stem Cells or hiPSCs) can proliferate almost indefinitely in vitro while maintaining the capacity to differentiate into a broad diversity of cell type...
journal_title:Current opinion in genetics & development
pub_type: 杂志文章,评审
doi:10.1016/j.gde.2017.07.004
更新日期:2017-10-01 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::Recent advances in cell reprogramming via employing different sets of factors, which allows generation of various cell types that are beyond the downstream developmental lineages from the starting cell type, provide significant opportunities to study fundamental biology and hold enormous promise in regenerative medici...
journal_title:Current opinion in genetics & development
pub_type: 杂志文章,评审
doi:10.1016/j.gde.2014.09.006
更新日期:2014-10-01 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::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::Folding is an important way by which epithelia are sculpted into three-dimensional shapes during development. Recent studies have integrated quantitative image analysis and physical modeling to uncover contributing mechanisms. It is becoming clear that folding processes often employ multiple mechanisms of force genera...
journal_title:Current opinion in genetics & development
pub_type: 杂志文章,评审
doi:10.1016/j.gde.2020.02.014
更新日期:2020-08-01 00:00:00
abstract::The largest subunit of eukaryotic RNA polymerase II has an unusual tandemly repeated heptapeptide sequence at its carboxyl terminus. The function of this evolutionarily conserved carboxy-terminal domain is unknown; however, new evidence links it to the formation of a large multi-component RNA polymerase II complex pos...
journal_title:Current opinion in genetics & development
pub_type: 杂志文章,评审
doi:10.1016/0959-437x(95)80009-3
更新日期:1995-04-01 00:00:00
abstract::Empowered by modern genotyping and large samples, population structure can be accurately described and quantified even when it only explains a fraction of a percent of total genetic variance. This is especially relevant and interesting for humans, where fine-scale population structure can both confound disease-mapping...
journal_title:Current opinion in genetics & development
pub_type: 历史文章,杂志文章,评审
doi:10.1016/j.gde.2016.08.007
更新日期:2016-12-01 00:00:00
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 se...
journal_title:Current opinion in genetics & development
pub_type: 杂志文章,评审
doi:10.1016/s0959-437x(96)80007-4
更新日期:1996-06-01 00:00:00
abstract::The ability to reprogram cell lineage specification through the activity of master regulatory transcription factors has transformed disease modeling, drug screening, and cell therapy for regenerative medicine. Recent advances in the engineering of synthetic transcription factors to modulate endogenous gene expression ...
journal_title:Current opinion in genetics & development
pub_type: 杂志文章,评审
doi:10.1016/j.gde.2018.05.001
更新日期:2018-10-01 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::Since the recognition of the uniqueness and coherence of the archaebacteria (sometimes called Archaea), our perception of their role in early evolution has been modified repeatedly. The deluge of sequence data and rapidly improving molecular systematic methods have combined with a better understanding of archaebacteri...
journal_title:Current opinion in genetics & development
pub_type: 杂志文章,评审
doi:10.1016/0959-437x(94)90065-5
更新日期:1994-12-01 00:00:00