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排序方式: 共有139条查询结果,搜索用时 15 毫秒
71.
Huang L Szymanska K Jensen VL Janecke AR Innes AM Davis EE Frosk P Li C Willer JR Chodirker BN Greenberg CR McLeod DR Bernier FP Chudley AE Müller T Shboul M Logan CV Loucks CM Beaulieu CL Bowie RV Bell SM Adkins J Zuniga FI Ross KD Wang J Ban MR Becker C Nürnberg P Douglas S Craft CM Akimenko MA Hegele RA Ober C Utermann G Bolz HJ Bulman DE Katsanis N Blacque OE Doherty D Parboosingh JS Leroux MR Johnson CA Boycott KM 《American journal of human genetics》2011,(6):713-730
Joubert syndrome related disorders (JSRDs) have broad but variable phenotypic overlap with other ciliopathies. The molecular etiology of this overlap is unclear but probably arises from disrupting common functional module components within primary cilia. To identify additional module elements associated with JSRDs, we performed homozygosity mapping followed by next-generation sequencing (NGS) and uncovered mutations in TMEM237 (previously known as ALS2CR4). We show that loss of the mammalian TMEM237, which localizes to the ciliary transition zone (TZ), results in defective ciliogenesis and deregulation of Wnt signaling. Furthermore, disruption of Danio rerio (zebrafish) tmem237 expression produces gastrulation defects consistent with ciliary dysfunction, and Caenorhabditis elegans jbts-14 genetically interacts with nphp-4, encoding another TZ protein, to control basal body-TZ anchoring to the membrane and ciliogenesis. Both mammalian and C. elegans TMEM237/JBTS-14 require RPGRIP1L/MKS5 for proper TZ localization, and we demonstrate additional functional interactions between C. elegans JBTS-14 and MKS-2/TMEM216, MKSR-1/B9D1, and MKSR-2/B9D2. Collectively, our findings integrate TMEM237/JBTS-14 in a complex interaction network of TZ-associated proteins and reveal a growing contribution of a TZ functional module to the spectrum of ciliopathy phenotypes. 相似文献
72.
Abjal Pasha Shaik Abbas H Alsaeed S Kiranmayee VK Bammidi Asma Sultana 《Bioinformation》2013,9(1):29-36
Cubilin, (CUBN; also known as intrinsic factor-cobalamin receptor [Homo sapiens Entrez Pubmed ref ; NM_001081.3;
GI: 119606627]), located in the epithelium of intestine and kidney acts as a receptor for intrinsic factor – vitamin B12 complexes.
Mutations in CUBN may play a role in autosomal recessive megaloblastic anemia. The current study investigated the possible role
of CUBN in evolution using phylogenetic testing. A total of 588 BLAST hits were found for the cubilin query sequence and these
hits showed putative conserved domain, CUB superfamily (as on 27th Nov 2012). A first-pass phylogenetic tree was constructed to
identify the taxa which most often contained the CUBN sequences. Following this, we narrowed down the search by manually
deleting sequences which were not CUBN. A repeat phylogenetic analysis of 25 taxa was performed using PhyML, RAxML and
TreeDyn softwares to confirm that CUBN is a conserved protein emphasizing its importance as an extracellular domain and being
present in proteins mostly known to be involved in development in many chordate taxa but not found in prokaryotes, plants and
yeast.. No horizontal gene transfers have been found between different taxa. NG_008967.1相似文献
73.
VK Satya R Radhajeyalakshmi K Kavitha V Paranidharan R Bhaskaran 《Archives Of Phytopathology And Plant Protection》2013,46(3):185-192
The fungitoxic effect of various medicinal plants belonging to different families was evaluated in vitro on Rhizoctonia solani, the rice sheath blight pathogen. Of the various plant extracts, the leaf extract of zimmu (Allium cepa × Allium sativum) showed the maximum antifungal activity against R. solani and recorded an inhibition zone of 12?mm. The leaf extract of zimmu was also effective in inhibiting the growth of other agronomically important fungal and bacterial pathogens viz., Aspergillus flavus, Curvularia lunata, Alternaria solani, Xanthomonas oryzae pv. oryzae, Xanthomonas campestris pv. malvacearum and Xanthomonas axonopodis pv. citri. The antimicrobial compound was dissoluble in methanol and the methanolic extract showed the absorption maxima at 210?nm and 230?nm. Phenolic compounds were present in greater amounts in methanol extract of zimmu. TLC analysis showed the appearance of two blue spots at R f ?=?0.65 and R f ?=?0.90. The compounds eluted at R f ?=?0.65 and R f ?=?0.90 by preparative TLC exhibited strong antifungal activity against R. solani. 相似文献
74.
The estimation of membrane potential of cyanide-resistant mitochondria of Candida lipolytica yeast was carried out using positively charged dye phenosafranine. The electron transfer via alternative pathway of cynide resistant mitochondria was shown not to be coupled with the formation of potential on membrane mitochondria. 相似文献
75.
Tolerance of the yeast Yarrowia lipolytica to oxidative stress 总被引:1,自引:0,他引:1
The adaptive response of the yeast Yarrowia lipolytica to the oxidative stress induced by the oxidants hydrogen peroxide, menadione, and juglone has been studied. H2O2, menadione, and juglone completely inhibited yeast growth at concentrations higher than 120, 0.5, and 0.03 mM, respectively. The stationary-phase yeast cells were found to be more resistant to the oxidants than the exponential-phase cells. The 60-min pre-treatment of logarithmic-phase cells with nonlethal concentrations of H2O2 (0.3 mM), menadione (0.05 mM), and juglone (0.005 mM) made the cells more resistant to high concentrations of these oxidants. The adaptation of yeast cells to H2O2, menadione, and juglone was associated with an increase in the activity of cellular catalase, superoxide dismutase, glucose-6-phosphate dehydrogenase, and glutathione reductase, the main enzymes involved in cell defense against oxidative stress. 相似文献
76.
77.
Shomu Bohora Narayanan Namboodiri Santosh Dora VK Ajit Kumar Jaganmohan Tharakan 《Indian pacing and electrophysiology journal》2010,10(1):62-66
Mahaim Fiber tachycardia characteristically causes a wide QRS tachycardia with left bundle branch morphology and left axis deviation, especially in young patients, having no structural heart disease. Mahaim fiber automaticity further cements the proposition of Mahaim fiber, due to its Atrioventricular (AV) node like property, being called as an ectopic AV node. 相似文献
78.
Trutko S. M. Evtushenko L. I. Dorofeeva L. V. Shlyapnikov M. G. Gavrish E. Yu. Suzina N. E. Akimenko V. K. 《Microbiology》2003,72(3):259-265
The nature of terminal oxidases in representatives of four different genera of the family Microbacteriaceae was studied. It was found that the late-logarithmic and early-stationary cells of all of the investigated strains of the genera Plantibacter and Okibacterium contain the aa
3-type cytochrome oxidase. Bacteria of the genera Rathayibacter and Agreia synthesize three oxidases, the bb
3- and aa
3-type cytochrome oxidases and nonheme cyanide-resistant oxidase, in proportions dependent on the cultivation conditions and the growth phase. Oxygen deficiency in the cultivation medium induces the synthesis of the bd-type oxidase in all of the microorganisms studied. The data obtained provide evidence that the type of terminal oxidases, along with the known chemotaxonomic characteristics, may serve to differentiate the genera of the family Microbacteriaceae at the phenotypic level. 相似文献
79.
Shcherbakova V. A. Laurinavichyu K. S. Lysenko A. M. Suzina N. E. Akimenko V. K. 《Microbiology》2003,72(4):490-495
The methanogenic strain MM isolated from an anaerobic microbial community degrading p-toluene sulfonate showed optimal values of temperature and pH for growth equal to 37°C and 6.3–6.9, respectively. The doubling times of the isolate grown on methanol, acetate, and methylamines under the optimal conditions were 8.8, 19.1, and 10.3–28.1 h, respectively. The growth of strain MM was observed only when the cultivation medium contained casamino acids or p-toluene sulfonate. The G+C content of the DNA of the isolate was 40.3 mol %. This, together with DNA–DNA hybridization data, allowed the new isolate to be identified as a strain of the species Methanosarcina mazei. The new isolate differed from the known representatives of this species in that it was resistant to alkylbenzene sulfonates and able to demethylate p-toluene sulfonate when grown on acetate. 相似文献
80.
Heat shock (45 degrees C) and the effect of oxidants (H2O2) resulted in a decrease of the respiratory activity of yeast cells and their survival rate. Increased resistance to stress effects after mild heat treatment (37 degrees C) or treatment with a nonlethal dose of oxidants (0.5 mM H2O2 for 60 min) was accompanied by appearance of an alternative (cyanide-resistant) oxidative pathway in the mitochondria, which promotes survival due to retention of the capacity for ATP synthesis in the first coupling point at the level of endogenous NADH dehydrogenase. The alternative oxidative pathway is more resistant to the effect of stressors that disrupt electron transfer in the cytochrome site of the respiratory chain. 相似文献