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Neetha John Moka Rajasekhar Katta Mohan Girisha Podila Satya Venkata Narasimha Sharma Puthiya Mundyat Gopinath 《Indian journal of human genetics》2013,19(2):165-170
BACKGROUND:
Mental retardation (MR) is a heterogeneous dysfunction of the central nervous system exhibiting complex phenotypes and has an estimated prevalence of 1-3% in the general population. However, in about 50% of the children diagnosed with any form of intellectual disability or developmental delay the cause goes undetected contributing to idiopathic intellectual disability.MATERIALS AND METHODS:
A total of 122 children with developmental delay/MR were studied to identify the microscopic and submicroscopic chromosome rearrangements by using the conventional cytogenetics and multiplex ligation dependent probe amplification (MLPA) analysis using SALSA MLPA kits from Microbiology Research Centre Holland [MRC] Holland.RESULTS:
All the recruited children were selected for this study, after thorough clinical assessment and metaphases prepared were analyzed by using automated karyotyping system. None was found to have chromosomal abnormality; MLPA analysis was carried out in all subjects and identified in 11 (9%) patients.CONCLUSION:
Karyotype analysis in combination with MLPA assays for submicroscopic micro-deletions may be recommended for children with idiopathic MR. 相似文献3.
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Expression of 4600 poplar expressed sequence tags (ESTs) was studied over the 2001-2002 growing seasons using trees of the moderately ozone (O(3))-tolerant trembling aspen (Populus tremuloides) clone 216 exposed to elevated CO(2) and/or O(3) for their entire 5-yr life history. Based on replication of the experiment in years 2001 and 2002, 238 genes showed qualitatively similar expression in at least one treatment and were retained for analysis. Of these 238 genes, 185 were significantly regulated (1.5-fold) from one year to the other in at least one treatment studied. Less than 1% of the genes were regulated 2-fold or more. In the elevated CO(2) treatment, relatively small numbers of genes were up-regulated, whereas in the O(3) treatment, higher expression of many signaling and defense-related genes and lower expression of several photosynthesis and energy-related genes were observed. Senescence-associated genes (SAGs) and genes involved in the flavonoid pathway were also up-regulated under O(3), with or without CO(2) treatment. Interestingly, the combined treatment of CO(2) plus O(3) resulted in the differential expression of genes that were not up-regulated with individual gas treatments. This study represents the first investigation into gene expression following long-term exposure of trees to the interacting effects of elevated CO(2) and O(3) under field conditions. Patterns of gene-specific regulation described in this study correlated with previously published physiological responses of aspen clone 216. 相似文献
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A. Noormets A. Sôber E. J. Pell R. E. Dickson G. K. Podila J. Sôber J. G. Isebrands & D. F. Karnosky 《Plant, cell & environment》2001,24(3):327-336
Leaf gas exchange parameters and the content of ribulose‐1,5‐bisphosphate carboxylase/oxygenase (Rubisco) in the leaves of two 2‐year‐old aspen (Populus tremuloides Michx.) clones (no. 216, ozone tolerant and no. 259, ozone sensitive) were determined to estimate the relative stomatal and mesophyll limitations to photosynthesis and to determine how these limitations were altered by exposure to elevated CO2 and/or O3. The plants were exposed either to ambient air (control), elevated CO2 (560 p.p.m.) elevated O3 (55 p.p.b.) or a mixture of elevated CO2 and O3 in a free air CO2 enrichment (FACE) facility located near Rhinelander, Wisconsin, USA. Light‐saturated photosynthesis and stomatal conductance were measured in all leaves of the current terminal and of two lateral branches (one from the upper and one from the lower canopy) to detect possible age‐related variation in relative stomatal limitation (leaf age is described as a function of leaf plastochron index). Photosynthesis was increased by elevated CO2 and decreased by O3 at both control and elevated CO2. The relative stomatal limitation to photosynthesis (ls) was in both clones about 10% under control and elevated O3. Exposure to elevated CO2 + O3 in both clones and to elevated CO2 in clone 259, decreased ls even further – to about 5%. The corresponding changes in Rubisco content and the stability of Ci/Ca ratio suggest that the changes in photosynthesis in response to elevated CO2 and O3 were primarily triggered by altered mesophyll processes in the two aspen clones of contrasting O3 tolerance. The changes in stomatal conductance seem to be a secondary response, maintaining stable Ci under the given treatment, that indicates close coupling between stomatal and mesophyll processes. 相似文献
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Sai Sunil Kumar Mallineni Yongchang Dong Herbert Behlow Apparao M. Rao Ramakrishna Podila 《Liver Transplantation》2018,8(10)
A new “wireless” paradigm for harvesting mechanical energy via a 3D‐printed wireless triboelectric nanogenerator (W‐TENG) comprised of an ecofriendly graphene polylactic acid (gPLA) nanocomposite and Teflon is demonstrated. The W‐TENG generates very high output voltages >2 kV with a strong electric field that enables the wireless transmission of harvested energy over a distance of 3 m. The W‐TENG exhibited an instantaneous peak power up to 70 mW that could be wirelessly transmitted for storage into a capacitor obviating the need for hard‐wiring or additional circuitry. Furthermore, the use of W‐TENG for wireless and secure actuation of smart‐home applications such as smart tint windows, temperature sensors, liquid crystal displays, and security alarms either with a single or a specific user‐defined passcode of mechanical pulses (e.g., Fibonacci sequence) is demonstrated. The scalable additive manufacturing approach for gPLA‐based W‐TENGs, along with their high electrical output and unprecedented wireless applications, is poised for revolutionizing the present mechanical energy harvesting technologies. 相似文献
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