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21.
Abelson JF Kwan KY O'Roak BJ Baek DY Stillman AA Morgan TM Mathews CA Pauls DL Rasin MR Gunel M Davis NR Ercan-Sencicek AG Guez DH Spertus JA Leckman JF Dure LS Kurlan R Singer HS Gilbert DL Farhi A Louvi A Lifton RP Sestan N State MW 《Science (New York, N.Y.)》2005,310(5746):317-320
Tourette's syndrome (TS) is a genetically influenced developmental neuropsychiatric disorder characterized by chronic vocal and motor tics. We studied Slit and Trk-like 1 (SLITRK1) as a candidate gene on chromosome 13q31.1 because of its proximity to a de novo chromosomal inversion in a child with TS. Among 174 unrelated probands, we identified a frameshift mutation and two independent occurrences of the identical variant in the binding site for microRNA hsa-miR-189. These variants were absent from 3600 control chromosomes. SLITRK1 mRNA and hsa-miR-189 showed an overlapping expression pattern in brain regions previously implicated in TS. Wild-type SLITRK1, but not the frameshift mutant, enhanced dendritic growth in primary neuronal cultures. Collectively, these findings support the association of rare SLITRK1 sequence variants with TS. 相似文献
22.
Aguado E Richelme S Nuñez-Cruz S Miazek A Mura AM Richelme M Guo XJ Sainty D He HT Malissen B Malissen M 《Science (New York, N.Y.)》2002,296(5575):2036-2040
The transmembrane protein LAT (linker for activation of T cells) couples the T cell receptor (TCR) to downstream signaling effectors. Mice homozygous for a mutation of a single LAT tyrosine residue showed impeded T cell development. However, later they accumulated polyclonal helper T (TH) cells that chronically produced type 2 cytokines in large amounts. This exaggerated TH2 differentiation caused tissue eosinophilia and massive maturation of plasma cells secreting to immunoglobulins of the E and G1 isotypes. This paradoxical phenotype establishes an unanticipated inhibitory function for LAT that is critical for the differentiation and homeostasis of TH cells. 相似文献
23.
24.
Morrow EM Yoo SY Flavell SW Kim TK Lin Y Hill RS Mukaddes NM Balkhy S Gascon G Hashmi A Al-Saad S Ware J Joseph RM Greenblatt R Gleason D Ertelt JA Apse KA Bodell A Partlow JN Barry B Yao H Markianos K Ferland RJ Greenberg ME Walsh CA 《Science (New York, N.Y.)》2008,321(5886):218-223
To find inherited causes of autism-spectrum disorders, we studied families in which parents share ancestors, enhancing the role of inherited factors. We mapped several loci, some containing large, inherited, homozygous deletions that are likely mutations. The largest deletions implicated genes, including PCDH10 (protocadherin 10) and DIA1 (deleted in autism1, or c3orf58), whose level of expression changes in response to neuronal activity, a marker of genes involved in synaptic changes that underlie learning. A subset of genes, including NHE9 (Na+/H+ exchanger 9), showed additional potential mutations in patients with unrelated parents. Our findings highlight the utility of "homozygosity mapping" in heterogeneous disorders like autism but also suggest that defective regulation of gene expression after neural activity may be a mechanism common to seemingly diverse autism mutations. 相似文献
25.
Herd CD Blinova A Simkus DN Huang Y Tarozo R Alexander CM Gyngard F Nittler LR Cody GD Fogel ML Kebukawa Y Kilcoyne AL Hilts RW Slater GF Glavin DP Dworkin JP Callahan MP Elsila JE De Gregorio BT Stroud RM 《Science (New York, N.Y.)》2011,332(6035):1304-1307
The complex suite of organic materials in carbonaceous chondrite meteorites probably originally formed in the interstellar medium and/or the solar protoplanetary disk, but was subsequently modified in the meteorites' asteroidal parent bodies. The mechanisms of formation and modification are still very poorly understood. We carried out a systematic study of variations in the mineralogy, petrology, and soluble and insoluble organic matter in distinct fragments of the Tagish Lake meteorite. The variations correlate with indicators of parent body aqueous alteration. At least some molecules of prebiotic importance formed during the alteration. 相似文献
26.
Rüfenacht S Bögli-Stuber K Bodmer T Jaunin VF Jmaa DC Gunn-Moore DA 《Journal of Feline Medicine and Surgery》2011,13(3):195-204
OVERVIEW: Mycobacterium microti infection is infrequently described in cats in the veterinary literature. It can be one of a large number of possible differential diagnoses in a feline patient with dermal nodules and non-healing draining ulcers, and can occasionally spread to involve the lungs and/or other areas of the body. CASE SUMMARY: This report describes the clinical signs, eventual diagnosis and variable response to treatment in a cat in Switzerland with recurrent cutaneous M microti infection. Only after several diagnostic and therapeutic attempts, over more than 2 years, was the species of Mycobacterium finally identified and targeted therapy given. PRACTICAL RELEVANCE: For any cat in which there is even a low suspicion of mycobacterial infection, the authors recommend that an aggressive diagnostic approach is taken. Tissue specimens should be collected and frozen early on, and, as soon as acid-fast bacilli are detected, samples should be sent to a mycobacterial reference laboratory for definitive identification. LITERATURE REVIEW: A review of the literature relating to the aetiopathogenesis, diagnosis and management of M microti infection in cats and dogs is included. This is supplemented with clinical and therapeutic experience gained from this case and other, unpublished cases managed over the past 15 years by one of the authors (DGM). 相似文献
27.
Bennett AD Gunn-Moore DA Brewer M Lappin MR 《Journal of Feline Medicine and Surgery》2011,13(8):553-557
The objective of this study was to determine the prevalence rates for select infectious agents of cats presented to the Royal (Dick) School of Veterinary Studies at the University of Edinburgh, Scotland. Whole blood, serum, and oral mucosal and nail bed swabs were collected. While Ehrlichia species, Anaplasma species or Rickettsia felis DNA were not amplified from any cat, 44.2% of the cats had evidence of infection or exposure to either a Bartonella species (15.3% were seropositive and 5.8% polymerase chain reaction (PCR) positive), a haemoplasma (28.6% PCR positive), and/or Toxoplasma gondii (19.2% seropositive). No Bartonella species DNA was amplified from the nail or oral mucosal swabs despite a 5.8% amplification rate from the blood samples. This finding likely reflects the absence of Ctenocephalides felis infection from our study population, as this organism is a key component for Bartonella species translocation in cats. The results from this study support the use of flea control products to lessen exposure of cats (and people) to Bartonella species and support discouraging the feeding of raw meat to cats and preventing them from hunting to lessen T gondii infection. 相似文献
28.
Bergeron C Gafner S Clausen E Carrier DJ 《Journal of agricultural and food chemistry》2005,53(8):3076-3080
The aqueous extract of American skullcap (Scutellaria lateriflora L. (S. lateriflora), Lamiaceae) has been traditionally used by North American Indians as a nerve tonic and for its sedative and diuretic properties. Recent reports stated that flavonoids and possibly amino acids are responsible for the anxiolytic activity. As a part of our search for environmentally friendly solvents to extract the active components from medicinal plants, we used S. lateriflora in a comparison of accelerated solvent extraction (ASE) using water, and supercritical fluid extraction (SFE) using CO2 and 10% EtOH as modifier, at different temperatures. Flavonoids and amino acids were quantified by HPLC-UV and HPLC-MS, respectively. The flavonoid content was compared with conventional extraction methods (hot water extraction and 70% ethanol). The use of ASE at 85 degrees C with water as solvent gave the best results for flavonoid glycosides and amino acids, whereas SFE gave higher yields of flavonoid aglycones. However, the results obtained for total flavonoids were not significatively superior to hot water extraction or 70% aqueous EtOH extract. 相似文献
29.
Besombes S Robert D Utille JP Taravel FR Mazeau K 《Journal of agricultural and food chemistry》2003,51(1):34-42
As a new approach for the study of the ultrastructure of lignin, the conformational preferences of lignin beta-O-4 model compounds have been investigated by molecular modeling. The computed results have been compared with the experimental data (X-ray crystal structures and (3)J(H)(alpha)(H)(beta) NMR coupling constant values) reported in the literature. This comparison has led to an improved understanding of the influence of the structure, stereochemistry, and intramolecular H-bonding upon the conformational properties of the beta-O-4 dimers. A large number of low-energy conformations have been predicted for the structures. It has also appeared that the conformational features are predominantly governed by local steric interactions rather than by differences in the H-bonding interactions. The threo and erythro forms differ significantly in their conformational features, with a preferential extended overall shape for the threo form in which the bulky aromatic groups are distant from each other. 相似文献
30.
Garsin DA 《Science (New York, N.Y.)》2004,306(5705):2202-2203