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1.
Haider MZ Habeeb Y Al-Nakkas E Al-Anzi H Zaki M Al-Tawari A Al-Bloushi M 《Journal of biomedical science》2005,12(5):815-818
Summary Idiopathic generalized epilepsies (IGEs) are the most common types of epilepsy in childhood and adolescence. A variety of
data suggest that IGEs have a predominant genetic etiology. Recently, a number of gene mutations have been found to be associated
with various types of epilepsy in mainly the Caucasian populations. The objective of this study was to investigate the association
of three different candidate genes with IGE in Kuwaiti Arab children. This study includes 123 Kuwaiti patients with a confirmed
diagnosis of epilepsy. Most of the patients have had a diagnostic EEG with generalized spike-wave discharges (GSWs). All patients
were evaluated by using a validated seizure questionnaire. The clinical type of epilepsy was determined by a trained neurologist/pediatrician.
The study also include 100 controls, the control subjects were children which did not have any history of neurological disorders.
Blood samples were collected from all patients and control subjects after taking informed consent. DNA was isolated and analyzed
by molecular methods. A FokI polymorphism in neuronal nicotinic acetylcholine receptor alpha-4 subunit (CHRNA4) gene was detected by PCR-RFLP method.
A missense mutation (Ser248Phe) in CHRNA4 gene was analyzed by PCR-RFLP using HpaII. A C121W mutation in sodium-channel beta-1 subunit (SCN1B) gene was screened by a PCR-RFLP method using HinPI. A 2-bp deletion in Cystatin B gene was detected by PCR-RFLP using XcmI. The incidence of three FokI polymorphism genotypes in Kuwaiti IGE patients was 1,1 (85%), 1,2 (14%) and 2,2 (1%) respectively. The missense mutation
Ser248Phe of CHRNA4 gene was not detected at all in Kuwaiti IGE patients. The C387G transversion resulting in C121W change
in third exon of the SCN1B gene was detected in 3/123 patients (2%). The patients carrying this mutation also exhibited febrile
seizures. The incidence of 2 bp deletion in the cystatin B gene was found to be 4% (5/123 IGE patients). The data obtained
from molecular analysis show a lack of association between three candidate genes and clinical expression of IGE in Kuwaiti
Arab children. This is completely different from the findings reported from Caucasian populations of France, Australia and
USA in which case a strong association has been reported between IGE and these genes.
To whom corresspondence should be addressed. Tel: +965-5319486; Fax: +965-5338940; E-mail: haider@hsc.edu.kw 相似文献
2.
Treatment of intact potato (Solanum tuberosum L., cv. Nevskii) tubers with 24-epibrassinolide (EB) resulted in prolonged deep dormancy, increased production of ethylene and higher contents of free and bound abscisic acid (ABA) in buds. EB at the most efficient concentration 0.021 mg dm–3, applied immediately after tuber harvest, inhibited sprouting by 36 – 38 d, increased ethylene formation after 1 and 7 d of storage by almost 300 and 150%, respectively, and increased the content of both free and bound ABA during the whole period of storage (on average by about 80%). Electron microscopic and morphometric studies showed that EB brings about a decrease in cell volume in tunica and all types of meristems and an increase in the number of vacuoles, accompanied by a decrease in their volume. 相似文献
3.
A theory has been developed for outer sphere non-adiabatic electron transfer reactions in polar media, involving transfer from one reactant to another via a third species having many closely spaced electronic energy levels. Expressions have been developed for the overall probability of electron transfer per unit time, and it is shown that for suitable positions of the electronic terms a pronounced increase in the rate constants, compared with the direct electron transfer between the reactants, can be expected. 相似文献
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5.
Jinlong Jian Shuai Zhao Qingyun Tian Elena Gonzalez-Gugel Jyoti Joshi Mundra Sardar MZ Uddin Ben Liu Brendon Richbourgh Ryan Brunetti Chuan-ju Liu 《FEBS letters》2013
We previously reported that PGRN directly bound to TNF receptors (TNFR) in vitro and in chondrocytes (Tang, et al., Science, 2011). Here we report that PGRN also associated with TNFR in splenocytes, and inhibited the binding of TNFα to immune cells. Proper folding of PGRN is essential for its binding to TNFR, as DTT treatment abolished its binding to TNFR. In contrast, the binding of PGRN to Sortilin was enhanced by DTT. Protein interaction assays with mutants of the TNFR extracellular domain demonstrated that CRD2 and CRD3 of TNFR are important for the interaction with PGRN, similar to the binding to TNFα. Taken together, these findings provide the molecular basis underlying PGRN/TNFR interaction and PGRN-mediated anti-inflammatory activity in various autoimmune diseases and conditions. 相似文献
6.
J. A. Bespyatykh O. A. Manicheva A. V. Smolyakov M. Z. Dogonadze V. Yu. Zhuravlev E. A. Shitikov E. N. Ilina 《Biochemistry (Moscow) Supplemental Series B: Biomedical Chemistry》2018,12(1):32-38
Comparative proteomic profiling of M. tuberculosis H37Rv strains cultured on two different nutrient media, Lowenstein-Jensen and Middlebrook 7H11, was performed using a label-free LC-MS/MS approach. It was shown that results obtained from two media possessed high convergence. The only difference was observed in the representation of fumarate reductase FrdB, its abundance was higher in the mycobacterial cells cultured on the Lowenstein-Jensen medium. The correlation analysis of biological repeats revealed the high convergence of the results obtained using the Middlebrook 7H11 medium. Thus, we can conclude that the use of the Middlebrook 7H11 medium is most appropriate in the scientific laboratory. 相似文献
7.
Mikhail Krasavin Prashant Mujumdar Vladislav Parchinsky Tatiana Vinogradova Olga Manicheva Marine Dogonadze 《Journal of enzyme inhibition and medicinal chemistry》2016,31(6):1146-1155
A novel library based on quinolin-4-ylimidazoline core was designed to incorporate a general quinoline antimicrobial pharmacophore. A synthesis of the well-characterized library of 36 compounds was achieved using the Pd-catalyzed Buchwald–Hartwig-type imidazoline arylation chemistry developed earlier. Compounds were tested for biological activity and were found to possess no antimalarial activity. However, the library delivered two promising antitubercular leads, which are non-cytotoxic and can be further optimized with respect to antimycobacterial potency. 相似文献
8.
Dogonadze MZ Korableva NP Platonova TA Shaposhnikov GL 《Prikladnaia biokhimiia i mikrobiologiia》2000,36(5):588-591
Gibberellic and beta-indolylacetic acids at concentrations of 10(-7)-10(-5) M were shown to change the hormonal status and duration of dormancy in potato tubers. Gibberellic acid shortened the dormancy and decreased the contents of abscisic acid and ethylene in apical meristems. beta-Indolylacetic acid elongated the dormancy, decreased abscisic acid production, but caused a more than tenfold increase in the production of ethylene by apical tissues. The data suggest that beta-indolylacetic acid and ethylene, as well as gibberellic and abscisic acids, are involved in the regulation of dormancy in potato tubers. 相似文献
9.
Effects of gibberellin and auxin on the synthesis of abscisic acid and ethylene in buds of dormant and sprouting potato tubers 总被引:2,自引:0,他引:2
M. Z. Dogonadze N. P. Korableva T. A. Platonova G. L. Shaposhnikov 《Applied Biochemistry and Microbiology》2000,36(5):507-509
Gibberellic and β-indolylacetic acids at concentrations of 10−7-10−5 M were shown to change the hormonal status and duration of true dormancy in potato tubers. Gibberellic acid shortened the
true dormancy and decreased the contents of abscisic acid and ethylene in the apical meristem. β-Indolylacetic acid elongated
the true dormancy and decreased abscisic acid production, but caused a more than tenfold increase in the production of ethylene
by apical tissues. The data suggest that β-indolylacetic acid and ethylene, as well as gibberellic and abscisic acids, are
involved in the regulation of true dormancy in potato tubers. 相似文献
10.