Abstract:
:Analysis of fetal DNA in maternal plasma has recently been introduced as a new method for noninvasive prenatal diagnosis. In the majority of cases, the Y chromosome-specific sequences are commonly used as a fetus-specific marker with a high risk of false-negative cases. We attempted to develop a sensitive and reliable X chromosome short tandem repeat (STR) multiplex PCR amplification system that is suitable for the amplification of short-sized templates of free fetal DNA. Because of specific characteristics of fetal DNA in maternal plasma, cell-free fetal DNA is smaller than corresponding maternal DNA, and so we selected 10 X-STR loci in which the allele size was 250 bp. In addition, fetal sex was also investigated using the amelogenin gene in the same multiplex assay. Twenty-six women were enrolled in the study. Eight of 26 total fetuses analyzed were male and 18 were female. In the whole sample, X-STRs were informative with a mean of 4.84 +/- 1.43. A mean of 2.67 +/- 1.28 X-STR markers per sample (range 1-5) of paternally inherited fetal alleles were detected in pregnant women carrying a female fetus. In all cases, blind determination of fetal sex by means of the identification of amelogenin and X-STR markers was confirmed by fetal karyotyping. This study showed that this noninvasive technique is a reliable and accurate tool to investigate free fetal DNA in pregnancies within the first trimester and could be widely used in clinical research and diagnosis.
journal_name
Ann N Y Acad Scijournal_title
Annals of the New York Academy of Sciencesauthors
Vecchione G,Tomaiuolo M,Sarno M,Colaizzo D,Petraroli R,Matteo M,Greco P,Grandone E,Margaglione Mdoi
10.1196/annals.1448.038subject
Has Abstractpub_date
2008-08-01 00:00:00pages
148-56eissn
0077-8923issn
1749-6632pii
NYAS1137038journal_volume
1137pub_type
杂志文章abstract::Adhesive interactions are recognized requirements for cellular proliferation, migration and differentiation during normal morphogenesis as well as disease. By differential cloning, osteopontin was identified as an adhesive protein upregulated during vascular remodeling and neointima formation in both rat models and hu...
journal_title:Annals of the New York Academy of Sciences
pub_type: 杂志文章
doi:10.1111/j.1749-6632.1995.tb44624.x
更新日期:1995-04-21 00:00:00
abstract::The acquired enamel pellicle (AEP) is a protein film with unique composition and properties, which is formed by the selective adsorption of a variety of oral fluid-derived proteins onto tooth enamel surfaces. Since events leading to caries and periodontal disease occur in close proximity to the tooth surface, pellicle...
journal_title:Annals of the New York Academy of Sciences
pub_type: 杂志文章,评审
doi:10.1196/annals.1384.023
更新日期:2007-03-01 00:00:00
abstract::We cloned a kappa 3-related opioid receptor, and although it is still not clear whether this clone corresponds to the kappa 3 receptor itself or is a related gene product, the extensive antisense mapping and the antibody immunoreactivity strongly associate this clone with the kappa 3 receptor. Our approach also indica...
journal_title:Annals of the New York Academy of Sciences
pub_type: 杂志文章,评审
doi:10.1111/j.1749-6632.1995.tb17491.x
更新日期:1995-05-10 00:00:00
abstract::We investigated the molecular mechanism by which Sph-1-P affects the FN-dependent haptotactic motility of serum-starved mouse melanoma B16/F10 cells. We found that EDG-5-induced Rho activation followed by enhanced tyrosine phosphorylation of FAK and paxillin, and beta 1-integrin activation leading to overexpression of...
journal_title:Annals of the New York Academy of Sciences
pub_type: 杂志文章
doi:10.1111/j.1749-6632.2000.tb06566.x
更新日期:2000-04-01 00:00:00
abstract::Estrogens are represented by a diverse group of compounds. Within this large family of molecules are tissue-selective estrogens that have been classified as selective estrogen receptor modulators (SERMs). These compounds are characterized by the fact that they exhibit both estrogen agonist and antagonist activity depe...
journal_title:Annals of the New York Academy of Sciences
pub_type: 杂志文章,评审
doi:10.1111/j.1749-6632.2001.tb04039.x
更新日期:2001-12-01 00:00:00
abstract::Although drugs of abuse have different chemical structures and interact with different protein targets, all appear to usurp common neuronal systems that regulate reward and motivation. Addiction is a complex disease that is thought to involve drug-induced changes in synaptic plasticity due to alterations in cell signa...
journal_title:Annals of the New York Academy of Sciences
pub_type: 杂志文章,评审
doi:10.1196/annals.1441.022
更新日期:2008-10-01 00:00:00
abstract::We investigated the role of thrombin in the pathogenesis in atherosclerosis and restenosis. First we examined the effect of thrombin on cultured human vascular smooth muscle cells (VSMC). We showed that thrombin acts as a mitogen on VSMC through thrombin receptor. The expression of thrombin receptor was increased in t...
journal_title:Annals of the New York Academy of Sciences
pub_type: 杂志文章
doi:10.1111/j.1749-6632.1997.tb52024.x
更新日期:1997-04-15 00:00:00
abstract::To develop new treatments for beta-thalassemia, it is essential to identify the genes involved in the relevant pathophysiological processes. Iron metabolism in thalassemia mice being investigated, focusing on the expression of a gene called hepcidin (Hamp), which is expressed in the liver and whose product (Hamp) is s...
journal_title:Annals of the New York Academy of Sciences
pub_type: 杂志文章
doi:10.1196/annals.1345.069
更新日期:2005-01-01 00:00:00
abstract::The free radical theory of aging proposes that oxidative stress is one of the determinants of an organism's life span. In Caenorhabditis elegans, genetic or environmental changes have been shown to modulate life span. Here we discuss whether changes in the generation and destruction of free radicals are implicated in ...
journal_title:Annals of the New York Academy of Sciences
pub_type: 杂志文章,评审
doi:10.1111/j.1749-6632.2002.tb02117.x
更新日期:2002-04-01 00:00:00
abstract::Compelling evidence now exists for estrogen's involvement in the regulation of mood and cognitive functions. Serum estrogen levels have been shown to play an important role in the expression of psychiatric disorders such as depression and schizophrenia. We have characterized the distribution of the estrogen receptors,...
journal_title:Annals of the New York Academy of Sciences
pub_type: 杂志文章,评审
doi:10.1196/annals.1286.006
更新日期:2003-12-01 00:00:00
abstract::Previous studies have established that methanolic extracts of bovine brain and lung possess CDS activity with an agonist-like profile at alpha(2)-adrenoceptor binding sites (i.e., greater potency against [(3)H]-clonidine sites than against [(3)H]-RX-821001 sites). Following prolonged reflux in ethylacetate, monovalent...
journal_title:Annals of the New York Academy of Sciences
pub_type: 杂志文章
doi:10.1196/annals.1304.026
更新日期:2003-12-01 00:00:00
abstract::Choir singing is positively associated with well-being and quality of life, and requires the coordination of physiological systems within and across individuals. Informed by models of interpersonal action coordination, we delineate the network topography of choir singing by analyzing cross-frequency couplings and with...
journal_title:Annals of the New York Academy of Sciences
pub_type: 杂志文章
doi:10.1111/nyas.13940
更新日期:2018-11-01 00:00:00
abstract::Early dissemination, blood circulation, or homing of single tumor cells in bone marrow and other organs is usually undetectable at primary diagnosis, even by high resolution imaging technologies. However, ultrasensitive approaches now enable the detection of "occult" tumor cells. Many researchers are currently focusin...
journal_title:Annals of the New York Academy of Sciences
pub_type: 杂志文章
doi:10.1111/j.1749-6632.2010.05779.x
更新日期:2010-10-01 00:00:00
abstract::Lambert-Eaton myasthenic syndrome (LEMS) is an autoimmune disorder caused by antibodies directed against the voltage-gated calcium channels that provide the calcium ion flux that triggers acetylcholine release at the neuromuscular junction. To study the pathophysiology of LEMS and test candidate therapeutic strategies...
journal_title:Annals of the New York Academy of Sciences
pub_type: 杂志文章,评审
doi:10.1111/nyas.13512
更新日期:2018-01-01 00:00:00
abstract::We studied the effects of change of head position in the pitch plane on the ability to hold horizontal eccentric gaze in five patients with cerebellar disorders. All patient showed a change in the time constant of horizontal centripetal drift when the head was pitched forward or back. This result suggests that otolith...
journal_title:Annals of the New York Academy of Sciences
pub_type: 杂志文章
doi:10.1196/annals.1325.075
更新日期:2005-04-01 00:00:00
abstract::The relationship between chaos and quantum mechanics has been somewhat uneasy--even stormy, in the minds of some people. However, much of the confusion may stem from inappropriate comparisons using formal analyses. In contrast, our starting point here is that a complete dynamical description requires a full understand...
journal_title:Annals of the New York Academy of Sciences
pub_type: 杂志文章
doi:10.1196/annals.1350.026
更新日期:2005-06-01 00:00:00
abstract::This has been an overview of fish health, a comparison of some aspects of fish husbandry with other animal husbandry, and comments concerning fish health research--especially where it is going. The 1972 disease survey identified current problems; it ranked the problems according to priority. More important, research e...
journal_title:Annals of the New York Academy of Sciences
pub_type: 杂志文章,评审
doi:10.1111/j.1749-6632.1975.tb26826.x
更新日期:1975-01-24 00:00:00
abstract::Tazobactam was the most recent β-lactamase inhibitor to be approved in 1993. Since the approval of piperacillin-tazobactam, the complexity of β-lactamase-mediated resistance among Gram-negative bacilli has increased enormously. After more than 20 years since the first such combination, amoxicillin-clavulanic acid, was...
journal_title:Annals of the New York Academy of Sciences
pub_type: 杂志文章,评审
doi:10.1111/nyas.12010
更新日期:2013-01-01 00:00:00
abstract::This paper presents a review of the publicly available knowledge base concerning turbine blade tip heat transfer, from the early fundamental research which laid the foundations of our knowledge, to current experimental and numerical studies utilizing engine-scaled blade cascades and turbine rigs. Focus is placed on hi...
journal_title:Annals of the New York Academy of Sciences
pub_type: 杂志文章
doi:10.1111/j.1749-6632.2001.tb05843.x
更新日期:2001-05-01 00:00:00
abstract::The endothelial regulation of vWF synthesis, storage, regulated and constitutive release, and now binding are the focus of numerous research laboratories. The understanding of these phenomena is important to the pathophysiology of local hemostasis. Although the structural understanding of the relationship of vW AgII t...
journal_title:Annals of the New York Academy of Sciences
pub_type: 杂志文章,评审
doi:10.1111/j.1749-6632.1987.tb30984.x
更新日期:1987-01-01 00:00:00
abstract::This paper considers issues arising from presentations by Barry Everitt and Gorica Petrovich concerning amygdalar involvement in appetitive conditioning. Studies reported by these researchers are beginning to unravel the distribution of associative functions among amygdalar nuclei and their efferent targets. The main ...
journal_title:Annals of the New York Academy of Sciences
pub_type: 杂志文章,评审
doi:10.1111/j.1749-6632.2003.tb07083.x
更新日期:2003-04-01 00:00:00
abstract::Patient privacy is one of the major issues in the development of modern clinical information system networks. Such networks will have to demonstrate an appropriate concern for privacy as a precondition of operation. Regulatory effectiveness analysis is a novel technique for measuring compliance with a technological re...
journal_title:Annals of the New York Academy of Sciences
pub_type: 杂志文章,评审
doi:10.1111/j.1749-6632.1992.tb26090.x
更新日期:1992-12-17 00:00:00
abstract::Methamphetamine (METH) produces nigrostriatal dopamine (DA) loss, partly resembling that which occurs in Parkinson's disease (PD). In PD there is also a marked alteration in the gut. Given the similarities between the central DA denervation produced by METH and PD, in the present study we evaluated the alterations in ...
journal_title:Annals of the New York Academy of Sciences
pub_type: 杂志文章
doi:10.1196/annals.1432.015
更新日期:2008-10-01 00:00:00
abstract::It has been proposed that spacetime should be regarded as an evolving block universe, bounded to the future by the present time, which continually extends to the future. This future boundary is defined at each time by measuring proper time along Ricci eigenlines from the start of the universe. A key point, then, is th...
journal_title:Annals of the New York Academy of Sciences
pub_type: 杂志文章,评审
doi:10.1111/nyas.12559
更新日期:2014-10-01 00:00:00
abstract::Interleukin (IL)-17-producing helper T (Th17) cells serve as a Th subset involved in epithelial cell- and neutrophil-mediated immune responses against extracellular microbes and in the development of various autoimmune diseases. The differentiation of Th17 cells is controlled by a number of intracellular signaling cas...
journal_title:Annals of the New York Academy of Sciences
pub_type: 杂志文章,评审
doi:10.1111/nyas.12059
更新日期:2013-03-01 00:00:00
abstract::The coordinated regulation between cellular glucose uptake and endogenous glucose production is indispensable for the maintenance of constant blood glucose concentrations. The liver contributes significantly to this process by altering the levels of hepatic glucose release, through controlling the processes of de novo...
journal_title:Annals of the New York Academy of Sciences
pub_type: 杂志文章,评审
doi:10.1111/nyas.13435
更新日期:2018-01-01 00:00:00
abstract::After nearly a century of inquiry, the cause of Alzheimer's disease (AD) remains to be found. In this review, basic and clinical evidence is presented that assembles and hypothetically explains most of the key pathologic events associated with the development of AD. These pathologic events are triggered in AD by impai...
journal_title:Annals of the New York Academy of Sciences
pub_type: 杂志文章,评审
doi:10.1111/j.1749-6632.2000.tb05572.x
更新日期:2000-01-01 00:00:00
abstract::The mechanism of action of tocopherol transfer protein (TTP) and its role in the intracellular processing of vitamin E were investigated using confocal fluorescence microscopy. The results from this work suggest that TTP functions by transporting vitamin E from endocytic organelles to other locations in the cell. ...
journal_title:Annals of the New York Academy of Sciences
pub_type: 杂志文章
doi:10.1196/annals.1331.034
更新日期:2004-12-01 00:00:00
abstract::The behavior of neurons in the basal ganglia is severely disrupted in Parkinson's disease (PD). In nonhuman parkinsonian primate models, the disturbance in neurons in basal ganglia output structures include increased firing, bursting, an augmented synchrony, correlated activity, and a tendency towards loss of specific...
journal_title:Annals of the New York Academy of Sciences
pub_type: 杂志文章
doi:10.1111/j.1749-6632.2003.tb07459.x
更新日期:2003-06-01 00:00:00
abstract::The discovery of mtDNA types common to Asians and Amerinds (types A, B, C, and D) forced investigators to search for those nations of Asia which, though not considered the ancestors of the Amerinds, have retained a close genetic resemblance with them. We collected samples and studied the gene pools of the Turkic-speak...
journal_title:Annals of the New York Academy of Sciences
pub_type: 杂志文章
doi:10.1007/978-3-662-41088-2_3
更新日期:2004-04-01 00:00:00