Abstract：
:In this review we will evaluate evidence that altered gene dosage and structure impacts neurodevelopment and neural connectivity through deleterious effects on synaptic structure and function, and evidence that the latter are key contributors to the risk for autism. We will review information on alterations of structure of mitochondrial DNA and abnormal mitochondrial function in autism and indications that interactions of the nuclear and mitochondrial genomes may play a role in autism pathogenesis. In a final section we will present data derived using Affymetrix SNP 6.0 microarray analysis of DNA of a number of subjects and parents recruited to our autism spectrum disorders project. We include data on two sets of monozygotic twins. Collectively these data provide additional evidence of nuclear and mitochondrial genome imbalance in autism and evidence of specific candidate genes in autism. We present data on dosage changes in genes that map on the X chromosomes and the Y chromosome. Precise analyses of Y located genes are often difficult because of the high degree of homology of X- and Y-related genes. However, continued efforts to analyze the latter are important, given the consistent evidence for a 4:1 ratio of males to females affected by autism. It is also important to consider whether environmental factors play a role in generating the nuclear and mitochondrial genomic instability we have observed. The study of autism will benefit from a move to analysis of pathways and multigene clusters for identification of subtypes that share a specific genetic etiology.
journal_name
Ann N Y Acad Scijournal_title
Annals of the New York Academy of Sciencesauthors
Smith M,Spence MA,Flodman Pdoi
10.1111/j.1749-6632.2008.03571.xsubject
Has Abstractpub_date
2009-01-01 00:00:00pages
102-32eissn
0077-8923issn
1749-6632pii
NYAS03571journal_volume
1151pub_type
杂志文章,评审abstract：:Deregulation of signaling pathways is a common feature observed in human cancers and other diseases. Therefore, there is a strong need for compounds that are able to modulate or inactivate upregulated signaling events. Natural compounds extracted from plants have long been used and still present a dynamic domain in th...
journal_title：Annals of the New York Academy of Sciences
pub_type： 杂志文章
doi：10.1196/annals.1397.041
更新日期：2007-01-01 00:00:00
abstract：:Teaching primary care is an important, but as yet, incompletely fulfilled responsibility of medical schools. The current surge of interest will not provide the needed personnel if primary care is defined too broadly, and if it is made everybody's business, but nobody's in particular. Primary care must not neglect firs...
journal_title：Annals of the New York Academy of Sciences
pub_type： 杂志文章
doi：10.1111/j.1749-6632.1978.tb22078.x
更新日期：1978-06-21 00:00:00
abstract：:Preclinical safety and efficacy evaluation of a novel bioartificial liver support system (BLSS) was conducted using a D-galactosamine canine liver failure model. The BLSS houses a suspension of porcine hepatocytes in a hollow fiber cartridge with the hepatocytes on one side of the membrane and whole blood flowing on t...
journal_title：Annals of the New York Academy of Sciences
pub_type： 杂志文章
doi：10.1111/j.1749-6632.1999.tb08516.x
更新日期：1999-06-18 00:00:00
abstract：:Murine typhus is a cause of fever of intermediate duration in the south of Spain, where antibodies against Rickettsia typhi and Rickettsia felis were observed in humans. This study presents the first report from the northeast of Spain. Human serum samples were tested by serological test. R. typhi and R. felis seroprev...
journal_title：Annals of the New York Academy of Sciences
pub_type： 杂志文章
doi：10.1196/annals.1374.028
更新日期：2006-10-01 00:00:00
abstract：:The transfer of nutrients from the mother through the chorioallantoic placenta meets the nutritional needs of the embryo during human prenatal development. Although all amniotes start with a similar "tool kit" of extraembryonic tissues, an enormous diversity of extraembryonic tissue formation has evolved to accommodat...
journal_title：Annals of the New York Academy of Sciences
pub_type： 杂志文章
doi：10.1111/j.1749-6632.2012.06726.x
更新日期：2012-10-01 00:00:00
abstract：:This study investigates the effects of agmatine on naloxone-precipitated withdrawal syndrome in morphine-dependent guinea pig ileum. Male guinea pigs that were starved for 24 hours were decapitated after cervical dislocation, and terminal portions of the ilea were removed. Segments were fixed at a resting tension of 1...
journal_title：Annals of the New York Academy of Sciences
pub_type： 杂志文章
doi：10.1196/annals.1304.016
更新日期：2003-12-01 00:00:00
abstract：:Preventable chronic diseases are the leading cause of death in the majority of countries throughout the world, and this trend will continue for the foreseeable future. The potential to offset the social, economic, and personal burdens associated with such conditions depends on our ability to influence people's thought...
journal_title：Annals of the New York Academy of Sciences
pub_type： 杂志文章,评审
doi：10.1111/nyas.13868
更新日期：2018-09-01 00:00:00
abstract：:Twin and family studies have demonstrated that most cognitive traits are moderately to highly heritable. Neurodevelopmental disorders such as dyslexia, autism, and specific language impairment (SLI) also show strong genetic influence. Nevertheless, it has proved difficult for researchers to identify genes that would e...
journal_title：Annals of the New York Academy of Sciences
pub_type： 杂志文章,评审
doi：10.1111/j.1749-6632.2009.04419.x
更新日期：2009-03-01 00:00:00
abstract：:In Wegener's granulomatosis (WG), antiproteinase 3 (PR3) autoantibodies (PR3-ANCA) are crucial in the development of generalized vasculitis. Wegener's pathognomonic lesion, a granulomatous inflammation of the upper and lower respiratory tract, contains abundant lymphocytes and macrophages. Lymphocyte clusters in germi...
journal_title：Annals of the New York Academy of Sciences
pub_type： 杂志文章,评审
doi：10.1196/annals.1361.042
更新日期：2005-06-01 00:00:00
abstract：:T cell protein tyrosine phosphatase (TCPTP) dephosphorylates a number of substrates, including JAK-STAT (signal transducer and activator of transcription) signaling proteins, which are activated by interferon (IFN)-γ, a major proinflammatory cytokine involved in conditions such as inflammatory bowel disease. A critica...
journal_title：Annals of the New York Academy of Sciences
pub_type： 杂志文章
doi：10.1111/nyas.13439
更新日期：2017-10-01 00:00:00
abstract：:Brazilian spotted fever (BSF) is a highly lethal disease caused by Rickettsia rickettsii. In the present study, rickettsial infection was evaluated in 669 Amblyomma aureolatum adult ticks collected from naturally infested dogs in Taiaçupeba, a BSF-endemic area in the state of São Paulo. Ten (1.49%) ticks were infected...
journal_title：Annals of the New York Academy of Sciences
pub_type： 杂志文章
doi：10.1196/annals.1374.103
更新日期：2006-10-01 00:00:00
abstract：:Curcumin (diferuloylmethane) is a nontoxic dietary pigment in tumeric and curry and a potent inhibitor of the common transcription factor Nuclear Factor kappaB (NF-kappaB) in several cell types. It is well established that some of the catabolic effects of the proinflammatory cytokines interleukin-1beta (IL-1beta) and ...
journal_title：Annals of the New York Academy of Sciences
pub_type： 杂志文章
doi：10.1196/annals.1329.067
更新日期：2004-12-01 00:00:00
abstract：:Lesion, stimulation, and pharmacological studies point to separate hypothalamic control of pulsatile FSH and LH secretion. LH release is controlled by a region extending from the preoptic area to the anterior and mid-median eminence, whereas FSH release is controlled by a region extending from the dorsal anterior hypo...
journal_title：Annals of the New York Academy of Sciences
pub_type： 杂志文章,评审
doi：10.1111/j.1749-6632.1993.tb43853.x
更新日期：1993-05-28 00:00:00
abstract：:The strategy of "manufacturing uncertainty" has been used with great success by polluters and manufacturers of dangerous products to oppose public health and environmental regulation. This strategy entails questioning the validity of scientific evidence on which the regulation is based. While this approach is most ide...
journal_title：Annals of the New York Academy of Sciences
pub_type： 杂志文章
doi：10.1196/annals.1371.058
更新日期：2006-09-01 00:00:00
abstract：:One of the most studied effects of verbal working memory (WM) is the influence of the length of the words that compose the list to be remembered. This work aims to investigate the nature of musical WM by replicating the word length effect in the musical domain. Length and rate of presentation were manipulated in a rec...
journal_title：Annals of the New York Academy of Sciences
pub_type： 杂志文章
doi：10.1111/j.1749-6632.2009.04787.x
更新日期：2009-07-01 00:00:00
abstract：:Rats inoculated once with nicotinic acetylcholine receptor and adjuvants had two episodes of weakness, the first being acute and transient, starting on day 8, and remitting in a few days, the second, chronic, progressive, and appearing after day 20. In the acute phase, the compound action potential and twitch evoked ...
journal_title：Annals of the New York Academy of Sciences
pub_type： 杂志文章
doi：10.1111/j.1749-6632.1976.tb47694.x
更新日期：1976-01-01 00:00:00
abstract：:The first studies of the pharmacological induction of fetal hemoglobin were conducted in patients with sickle cell disease and thalassemia. Although hydroxyurea was approved by the FDA for the treatment of sickle cell disease in 1996, no similar pharmacological agent(s) has been approved for the treatment of patients ...
journal_title：Annals of the New York Academy of Sciences
pub_type： 杂志文章,评审
doi：10.1196/annals.1345.029
更新日期：2005-01-01 00:00:00
abstract：:Experiments with enzymes in situ that are dependent on ascorbic acid for maximum activity will provide critical information about ascorbic acid requirements. Our work with chromaffin tissue as a model system eventually will result in the determination of two dose-response curves for norepinephrine biosynthesis, repres...
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.tb23779.x
更新日期：1987-01-01 00:00:00
abstract：:Rituximab (RTX) is currently used in many diseases, but its efficacy and safety in juvenile systemic lupus erythematosus (SLEj) is still unknown. In this chapter we present four case reports of children treated with RTX: three SLE and one immune thrombocytopenic purpura (ITP). Two of the three SLEj patients had class ...
journal_title：Annals of the New York Academy of Sciences
pub_type： 杂志文章
doi：10.1111/j.1749-6632.2009.04804.x
更新日期：2009-09-01 00:00:00
abstract：:Our studies have shown that the acyclic nucleotide analogues PMEA and HPMPC are able to penetrate into cells and are then activated to mono- and diphosphate derivatives. The latter correspond to triphosphate analogues and presumably serve an important role in the biological activity exerted by these antiviral agents. ...
journal_title：Annals of the New York Academy of Sciences
pub_type： 杂志文章,评审
doi：10.1111/j.1749-6632.1990.tb17859.x
更新日期：1990-01-01 00:00:00
abstract：:Uncertainty in exposure assessment and uncertainty in kinetic models of early effects after exposure to a toxin are addressed in this paper. Sources of uncertainty in the determination of exposure of workers in chemical industry exposed to dioxins are exhibited and a simple kinetic model for biomonitor measurements of...
journal_title：Annals of the New York Academy of Sciences
pub_type： 杂志文章
doi：10.1111/j.1749-6632.1999.tb08078.x
更新日期：1999-01-01 00:00:00
abstract：:Normal human mitotic cells do not proliferate indefinitely in culture but undergo a limited number of divisions and progressively reach a state of irreversible growth arrest, a process termed replicative senescence. Hypoxia is a situation of reduced oxygen concentration that relates to many physiological and pathophys...
journal_title：Annals of the New York Academy of Sciences
pub_type： 杂志文章
doi：10.1196/annals.1404.025
更新日期：2007-11-01 00:00:00
abstract：:In visual working memory tasks, memory for an item is enhanced if participants are told that the item is relatively more valuable than others presented within the same trial. Experiment 1 explored whether these probe value boosts (termed prioritization effects in previous literature) are affected by probe frequency (i...
journal_title：Annals of the New York Academy of Sciences
pub_type： 杂志文章
doi：10.1111/nyas.13634
更新日期：2018-07-01 00:00:00
abstract：:The avoidance of autoimmunity requires mechanisms to actively silence or tolerize self reactive T cells in the periphery. During infection, dendritic cells are not only capturing microbial antigens, but also are processing self antigens from dying cells as well as innocuous environmental proteins. Since the dendritic ...
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.tb06029.x
更新日期：2003-04-01 00:00:00
abstract：:In humans any effects of dietary saturated fats or omega-6 polyunsaturates on blood pressure appear to be mediated by changes in caloric intake and long-term weight changes. In contrast, omega-3 fatty acids have a mild antihypertensive effect which is seen most clearly in untreated subjects with higher blood pressures...
journal_title：Annals of the New York Academy of Sciences
pub_type： 杂志文章,评审
doi：10.1111/j.1749-6632.1993.tb35690.x
更新日期：1993-06-14 00:00:00
abstract：:Clinical and basic research in the area of drugs of abuse are of utmost importance since they provide the necessary background for health programs in one of the main problems of contemporary society. The available data in this field demonstrate that acute, subacute and/or chronic abuse of illicit drugs, e.g., cocaine,...
journal_title：Annals of the New York Academy of Sciences
pub_type： 杂志文章
doi：10.1111/j.1749-6632.1996.tb17448.x
更新日期：1996-10-31 00:00:00
abstract：:The aim of the study was to investigate the effect of functional polymorphisms in promoters of the MMP-2 (-1306 C > T), MMP-3 (-1171 5A > 6A), MMP-9 (-1562 C > T), MMP-12 (-82 A > G), TIMP-1 (-372 C > T), and PAI-1 (-675 4G > 5G and -847 A > G) genes on the growth rate of small abdominal aortic aneurysms. The patients...
journal_title：Annals of the New York Academy of Sciences
pub_type： 杂志文章
doi：10.1196/annals.1383.042
更新日期：2006-11-01 00:00:00
abstract：:The slowpoke gene of Drosophila melanogaster encodes a Ca-activated K channel. This gene is expressed in neurons, muscles, tracheal cells, and the copper and iron cells of the midgut. The gene produces a large number of alternative products using tissue-specific transcriptional promoters and alternative mRNA splicing....
journal_title：Annals of the New York Academy of Sciences
pub_type： 杂志文章,评审
doi：10.1111/j.1749-6632.1998.tb09057.x
更新日期：1998-11-16 00:00:00
abstract：:The receptive field of a direction-selective unit of any type consists of an excitatory center 3 degrees -5 degrees in size, a near inhibitory surround and a far surround upon which illumination exerts an influence for both spontaneous activity and specific cell response. ...
journal_title：Annals of the New York Academy of Sciences
pub_type： 杂志文章
doi：10.1196/annals.1342.057
更新日期：2005-06-01 00:00:00
abstract：:Hepatitis B virus (HBV) of man has several characteristics that distinguish it from viruses of other groups. These include its ultrastructure, viral DNA size and structure, a virion DNA polymerase which repairs a single-stranded region in the viral DNA, liver tropism, character of persistent infection, and association...
journal_title：Annals of the New York Academy of Sciences
pub_type： 杂志文章,评审
doi：10.1111/j.1749-6632.1980.tb27978.x
更新日期：1980-01-01 00:00:00
