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51.
Summary Three patients with mental retardation and multiple congenital abnormalities are described.Although their clinical appearance was not suggestive of Down's syndrome, chromosome studies showed a non-disjunctional trisomy 21 in two of the patients. The third case had an unsuspected XXY karyotype. 相似文献
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53.
Mayflies from the family Leptophlebiidae are cosmopolitan and highly diverse morphologically; they are also the largest family in numbers of genera and the second in number of species in the order Ephemeroptera. In spite of their broad diversity and the efforts employed to understand the evolution of this group, the internal classification of Leptophlebiidae remains controversial at all levels. More recently, important changes have been incorporated into the systematics of the family, increasing the number of subfamilies (from two to six) and recognizing several tribes. We present a phylogeny of the family based on 153 taxa (53 genera) and two molecular markers, representing 1655 bp, and verify the taxonomic status of the subfamilies, tribes and complexes. Based on these results, the number of subfamilies has been increased from six to eight and one new tribes and two new subtribes have been added. In addition, new ranks are proposed and the concept of Atalophlebiinae revised, including genera with distributions in the Australasian and Neotropical regions. 相似文献
54.
Yann Cormerais Marina Pagnuzzi‐Boncompagni Sandra Schrtter Sandy Giuliano Eric Tambutt Hitoshi Endou Michael F. Wempe Gilles Pags Jacques Pouyssgur Vincent Picco 《Journal of cellular and molecular medicine》2019,23(4):2711-2718
Most cases of medulloblastoma (MB) occur in young children. While the overall survival rate can be relatively high, current treatments combining surgery, chemo‐ and radiotherapy are very destructive for patient development and quality of life. Moreover, aggressive forms and recurrences of MB cannot be controlled by classical therapies. Therefore, new therapeutic approaches yielding good efficacy and low toxicity for healthy tissues are required to improve patient outcome. Cancer cells sustain their proliferation by optimizing their nutrient uptake capacities. The L‐type amino acid transporter 1 (LAT1) is an essential amino acid carrier overexpressed in aggressive human cancers that was described as a potential therapeutic target. In this study, we investigated the therapeutic potential of JPH203, a LAT1‐specific pharmacological inhibitor, on two independent MB cell lines belonging to subgroups 3 (HD‐MB03) and Shh (DAOY). We show that while displaying low toxicity towards normal cerebral cells, JPH203 disrupts AA homeostasis, mTORC1 activity, proliferation and survival in MB cells. Moreover, we demonstrate that a long‐term treatment with JPH203 does not lead to resistance in MB cells. Therefore, this study suggests that targeting LAT1 with JPH203 is a promising therapeutic approach for MB treatment. 相似文献
55.
Protein and peptide arrays: recent trends and new directions 总被引:3,自引:0,他引:3
Microarrays of proteins and peptides make it possible the screening of thousands of binding events in a parallel and high throughput fashion; therefore they are emerging as a powerful tool for proteomics and clinical assays. The complex nature of Proteome, the wide dynamic range of protein concentration in real samples and the critical role of immobilized protein orientation must be taken into account to maximize the utility of protein microarrays. Immobilization strategy and designing of an ideal local chemical environment on the solid surface are both essential for the success of a protein microarray experiment. This review article will focus on protein and peptide arrays highlighting their technical challenges and presenting new directions by means of a set of selected recent applications. 相似文献
56.
Burbaeva GSh Boksha IS Tereshkina EB Savushkina OK Starodubtseva LI Turishcheva MS Mukaetova-Ladinska E 《Neurochemical research》2007,32(9):1434-1444
We have used a systemic approach to establish a relationship between enzyme measures of glial glutamate and energy metabolism
(glutamine synthetase and glutamine synthetase-like protein, glutamate dehydrogenase isoenzymes, brain isoform creatine phosphokinase)
and two major glial proteins (glial fibrillary acidic protein and myelin basic protein) in autopsied brain samples taken from
patients with schizophrenia (SCH) and mentally healthy subjects (23 and 22 cases, respectively). These biochemical parameters
were measured in tissue extracts in three brain areas (prefrontal cortex, caudate nucleus, and cerebellum). Significant differences
in the level of at least one of the glutamate metabolizing enzymes were observed between two studied groups in all studied
brain areas. Different patterns of correlative links between the biochemical parameters were found in healthy and schizophrenic
brains. These findings give a new perspective to our understanding of the impaired regulation of enzyme levels in the brain
in SCH. 相似文献
57.
Genomewide Multipoint Linkage Analysis of Seven Extended Palauan Pedigrees with Schizophrenia, by a Markov-Chain Monte Carlo Method 总被引:2,自引:0,他引:2
Nicola J. Camp Susan L. Neuhausen Josepha Tiobech Anthony Polloi Hilary Coon Marina Myles-Worsley 《American journal of human genetics》2001,69(6):1278-1289
Palauans are an isolated population in Micronesia with lifetime prevalence of schizophrenia (SCZD) of 2%, compared to the world rate of approximately 1%. The possible enrichment for SCZD genes, in conjunction with the potential for reduced etiological heterogeneity and the opportunity to ascertain statistically powerful extended pedigrees, makes Palauans a population of choice for the mapping of SCZD genes. We have used a Markov-chain Monte Carlo method to perform a genomewide multipoint analysis in seven extended pedigrees from Palau. Robust multipoint parametric and nonparametric linkage (NPL) analyses were performed under three nested diagnostic classifications-core, spectrum, and broad. We observed four regions of interest across the genome. Two of these regions-on chromosomes 2p13-14 (for which, under core diagnostic classification, NPL=6.5 and parametric LOD=4.8) and 13q12-22 (for which, under broad diagnostic classification, parametric LOD=3.6, and, under spectrum diagnostic classification, parametric LOD=3.5)-had evidence for linkage with genomewide significance, after correction for multiple testing; with the current pedigree resource and genotyping, these regions are estimated to be 4.3 cM and 19.75 cM in size, respectively. A third region, with intermediate evidence for linkage, was identified on chromosome 5q22-qter (for which, under broad diagnostic classification, parametric LOD=2.5). The fourth region of interest had only borderline suggestive evidence for linkage (on 3q24-28; for this region, under broad diagnostic classification, parametric LOD=2.0). All regions exhibited evidence for genetic heterogeneity. Our findings provide significant evidence for susceptibility loci on chromosomes 2p13-14 and 13q12-22 and support both a model of genetic heterogeneity and the utility of a broader set of diagnostic classifications in the population from Palau. 相似文献
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59.