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71.
Jin Y Birlea SA Fain PR Ferrara TM Ben S Riccardi SL Cole JB Gowan K Holland PJ Bennett DC Luiten RM Wolkerstorfer A van der Veen JP Hartmann A Eichner S Schuler G van Geel N Lambert J Kemp EH Gawkrodger DJ Weetman AP Taïeb A Jouary T Ezzedine K Wallace MR McCormack WT Picardo M Leone G Overbeck A Silverberg NB Spritz RA 《Nature genetics》2012,44(6):676-680
We previously reported a genome-wide association study (GWAS) identifying 14 susceptibility loci for generalized vitiligo. We report here a second GWAS (450 individuals with vitiligo (cases) and 3,182 controls), an independent replication study (1,440 cases and 1,316 controls) and a meta-analysis (3,187 cases and 6,723 controls) identifying 13 additional vitiligo-associated loci. These include OCA2-HERC2 (combined P = 3.80 × 10(-8)), MC1R (P = 1.82 × 10(-13)), a region near TYR (P = 1.57 × 10(-13)), IFIH1 (P = 4.91 × 10(-15)), CD80 (P = 3.78 × 10(-10)), CLNK (P = 1.56 × 10(-8)), BACH2 (P = 2.53 × 10(-8)), SLA (P = 1.58 × 10(-8)), CASP7 (P = 3.56 × 10(-8)), CD44 (P = 1.78 × 10(-9)), IKZF4 (P = 2.75 × 10(-14)), SH2B3 (P = 3.54 × 10(-18)) and TOB2 (P = 6.81 × 10(-10)). Most vitiligo susceptibility loci encode immunoregulatory proteins or melanocyte components that likely mediate immune targeting and the relationships among vitiligo, melanoma, and eye, skin and hair coloration. 相似文献
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Painter JN Anderson CA Nyholt DR Macgregor S Lin J Lee SH Lambert A Zhao ZZ Roseman F Guo Q Gordon SD Wallace L Henders AK Visscher PM Kraft P Martin NG Morris AP Treloar SA Kennedy SH Missmer SA Montgomery GW Zondervan KT 《Nature genetics》2011,43(1):51-54
Endometriosis is a common gynecological disease associated with pelvic pain and subfertility. We conducted a genome-wide association study (GWAS) in 3,194 individuals with surgically confirmed endometriosis (cases) and 7,060 controls from Australia and the UK. Polygenic predictive modeling showed significantly increased genetic loading among 1,364 cases with moderate to severe endometriosis. The strongest association signal was on 7p15.2 (rs12700667) for 'all' endometriosis (P = 2.6 × 10??, odds ratio (OR) = 1.22, 95% CI 1.13-1.32) and for moderate to severe disease (P = 1.5 × 10??, OR = 1.38, 95% CI 1.24-1.53). We replicated rs12700667 in an independent cohort from the United States of 2,392 self-reported, surgically confirmed endometriosis cases and 2,271 controls (P = 1.2 × 10?3, OR = 1.17, 95% CI 1.06-1.28), resulting in a genome-wide significant P value of 1.4 × 10?? (OR = 1.20, 95% CI 1.13-1.27) for 'all' endometriosis in our combined datasets of 5,586 cases and 9,331 controls. rs12700667 is located in an intergenic region upstream of the plausible candidate genes NFE2L3 and HOXA10. 相似文献
73.
Yellow phenocopies of Drosophila melanogaster were produced by raising larvae on alpha-DMT contaminated media. Using a survivorship test, the sensitive period for phenocopy induction was found to occur during the third larval instar of development, with increased survivorship at 1% alpha-DMT compared with lower concentrations. It was also found that treatment with alpha-DMT significantly slowed development. These findings are related to the relevant morphological and behavioral developmental pathways and to phenocopy induction. 相似文献
74.
Summary Rabbit kidney cortex slices behave as osmometers when withstanding either hyperosmotic shocks or hypoosmotic shocks of amplitude up to P1/P2=1.25. For hypo-osmotic shocks of amplitude larger or equal to P1/P2=1.5 a volume regulation process occurs. Na+ is the main osmotic effector implicated in volume control.This work has been aided by a grant 1.5.422.82F from the FNRS to R.G. We wish to thank Mr J.M. Theate for his skilful assistance. 相似文献
75.
Synthesis and metabolism of vertebrate-type steroids by tissues of insects: A critical evaluation 总被引:2,自引:0,他引:2
Prof. L. Swevers J. G. D. Lambert A. De Loof 《Cellular and molecular life sciences : CMLS》1991,47(7):687-698
Summary This review covers the synthesis and the metabolism of vertebrate-type steroids (progesterone, testosterone, estradiol, corticosteroids) by insect tissues and discusses the significance of the reactions for insect physiology. Biosynthesis of vertebrate-type steroids from cholesterol hitherto has been demonstrated in only two insect species, i.e. the water beetleAcilius sulcatus (Coleoptera) and the tobacco hornwormManduca sexta (Lepidoptera). InAcilius, steroid synthesis is associated with exosecretion (chemical defense). Nothing, however, is known about a physiological role of the C21 steroid conjugate present in ovaries and eggs ofManduca. No synthesis of vertebrate-type steroids was observed in any other insect investigated to date. Most metabolic conversions of steroids by insects concerned oxidoreduction of oxygen groups (hydroxysteroid dehydrogenase activity) and (polar and apolar) conjugate formation. All important enzymatic steps involved in synthesis and catabolism, as known from studies with tissues of vertebrates, were not, or hardly observed. The conclusion is drawn that typical vertebrate-type (C21, C19 and C18) steroids probably do not act as physiologically active substances in insects. 相似文献
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77.
R. P. Duffley G. Lambert H. C. Dalzell R. K. Razdan 《Cellular and molecular life sciences : CMLS》1981,37(9):931-932
Summary The synthesis of (±)-211-dihydroxy-
9-THC, a difunctionalized metabolite of
9-THC, is presented.Acknowledgment. This work was carried out with the support of NIDA Grant No. DA 00574. We are grateful to Mr. J. Coe for assistance with some of the experiments. 相似文献
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