排序方式: 共有27条查询结果,搜索用时 468 毫秒
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Burdon KP Macgregor S Hewitt AW Sharma S Chidlow G Mills RA Danoy P Casson R Viswanathan AC Liu JZ Landers J Henders AK Wood J Souzeau E Crawford A Leo P Wang JJ Rochtchina E Nyholt DR Martin NG Montgomery GW Mitchell P Brown MA Mackey DA Craig JE 《Nature genetics》2011,43(6):574-578
We report a genome-wide association study for open-angle glaucoma (OAG) blindness using a discovery cohort of 590 individuals with severe visual field loss (cases) and 3,956 controls. We identified associated loci at TMCO1 (rs4656461[G] odds ratio (OR) = 1.68, P = 6.1 × 10(-10)) and CDKN2B-AS1 (rs4977756[A] OR = 1.50, P = 4.7 × 10(-9)). We replicated these associations in an independent cohort of cases with advanced OAG (rs4656461 P = 0.010; rs4977756 P = 0.042) and two additional cohorts of less severe OAG (rs4656461 combined discovery and replication P = 6.00 × 10(-14), OR = 1.51, 95% CI 1.35-1.68; rs4977756 combined P = 1.35 × 10(-14), OR = 1.39, 95% CI 1.28-1.51). We show retinal expression of genes at both loci in human ocular tissues. We also show that CDKN2A and CDKN2B are upregulated in the retina of a rat model of glaucoma. 相似文献
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N Viswanathan 《Experientia》1989,45(4):383-385
The relative roles of conflicting zeitgebers [presence/absence (PA) cycles versus light/dark (LD) cycles] on entrainment of circadian rhythm of locomotor activity were tested in pups of the night active mouse Mus booduga. During the early days of the pups' life the PA cycles of the mother acted as a zeitgeber and entrained their activity rhythm, even though the LD cycles were available. Entrainment by LD cycles took place only when the pups' eyes opened and probably became functional. 相似文献
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N. Narasimhachari B. N. Vasavada S. Viswanathan 《Cellular and molecular life sciences : CMLS》1965,21(7):376-376
Zusammenfassung Aus Herqueinon erhält man Desoxyherqueinon (Atrovenetin-monomethyl-äther) mit antibakteriellen Eigenschaften. Spektrum ähnlich wie Atrovenetin, obwohl die minimale Hemmungskonzentration höher liegt. 相似文献
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I. N. Bhatt T. A. Venkitasubramaniam R. Viswanathan 《Cellular and molecular life sciences : CMLS》1960,16(12):537
Zusammenfassung Der Einfluss einer Ganzkörperbestrahlung mit CO60--Strahlen auf die Blutlipoide von Ratten wurde untersucht. Die Gesamtblutlipoide waren 24 h nach der Bestrahlung um 38,8% erhöht. Die Cholesterin- und Phospholipoidkonzentration des Bluts blieb unverändert.
Our thanks are due to the Indian Council of Medical Research for financial aid and to Dr.Brewbaker, U.S. Atomic Energy Pavilion, World Agriculture Fair, New Delhi, 1960 for irradiation facilities. 相似文献
Our thanks are due to the Indian Council of Medical Research for financial aid and to Dr.Brewbaker, U.S. Atomic Energy Pavilion, World Agriculture Fair, New Delhi, 1960 for irradiation facilities. 相似文献
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N. Viswanathan M. K. Chandrashekaran 《Cellular and molecular life sciences : CMLS》1987,43(5):576-578
Summary 1212-h cycles of presence and absence of mother mouse act as a zeitgeber and entrain the circadian rhythm of locomotor activity in the pups ofMus booduga under continuous darkness or continuous dim light. Continuous higher illumination of 15–25 lx abolishes this impressive maternal entrainment.Acknowledgment. We are grateful to the DST, Government of India, for financial support under their IRHPA scheme. N.V. is the recipient of a Senior Research Fellowship of CSIR, New Delhi. We thank Dr. R. Subbaraj for discussions. 相似文献
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A sodium-channel mutation causes isolated cardiac conduction disease 总被引:25,自引:0,他引:25
Tan HL Bink-Boelkens MT Bezzina CR Viswanathan PC Beaufort-Krol GC van Tintelen PJ van den Berg MP Wilde AA Balser JR 《Nature》2001,409(6823):1043-1047
Cardiac conduction disorders slow the heart rhythm and cause disability in millions of people worldwide. Inherited mutations in SCN5A, the gene encoding the human cardiac sodium (Na+) channel, have been associated with rapid heart rhythms that occur suddenly and are life-threatening; however, a chief function of the Na+ channel is to initiate cardiac impulse conduction. Here we provide the first functional characterization of an SCN5A mutation that causes a sustained, isolated conduction defect with pathological slowing of the cardiac rhythm. By analysing the SCN5A coding region, we have identified a single mutation in five affected family members; this mutation results in the substitution of cysteine 514 for glycine (G514C) in the channel protein. Biophysical characterization of the mutant channel shows that there are abnormalities in voltage-dependent 'gating' behaviour that can be partially corrected by dexamethasone, consistent with the salutary effects of glucocorticoids on the clinical phenotype. Computational analysis predicts that the gating defects of G514C selectively slow myocardial conduction, but do not provoke the rapid cardiac arrhythmias associated previously with SCN5A mutations. 相似文献