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A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene 总被引:18,自引:0,他引:18
Bitner-Glindzicz M Lindley KJ Rutland P Blaydon D Smith VV Milla PJ Hussain K Furth-Lavi J Cosgrove KE Shepherd RM Barnes PD O'Brien RE Farndon PA Sowden J Liu XZ Scanlan MJ Malcolm S Dunne MJ Aynsley-Green A Glaser B 《Nature genetics》2000,26(1):56-60
Usher syndrome type 1 describes the association of profound, congenital sensorineural deafness, vestibular hypofunction and childhood onset retinitis pigmentosa. It is an autosomal recessive condition and is subdivided on the basis of linkage analysis into types 1A through 1E. Usher type 1C maps to the region containing the genes ABCC8 and KCNJ11 (encoding components of ATP-sensitive K + (KATP) channels), which may be mutated in patients with hyperinsulinism. We identified three individuals from two consanguineous families with severe hyperinsulinism, profound congenital sensorineural deafness, enteropathy and renal tubular dysfunction. The molecular basis of the disorder is a homozygous 122-kb deletion of 11p14-15, which includes part of ABCC8 and overlaps with the locus for Usher syndrome type 1C and DFNB18. The centromeric boundary of this deletion includes part of a gene shown to be mutated in families with type 1C Usher syndrome, and is hence assigned the name USH1C. The pattern of expression of the USH1C protein is consistent with the clinical features exhibited by individuals with the contiguous gene deletion and with isolated Usher type 1C. 相似文献
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L. E. Lindblad R. R. Lorenz J. T. Shepherd P. M. Vanhoutte 《Cellular and molecular life sciences : CMLS》1984,40(12):1372-1373
Summary 1–3 h after prolonged (3–16 h) vibration (120 Hz, 0.2–0.3 mm amplitude) of rings of canine saphenous arteries there was no significant change in the contractile response to electrical stimulation, exogenous norepinephrine or of neuronal uptake of tritium labeled norepinephrine. These results did not provide evidence for persistent aftereffects of prolonged vibration.Acknowledgments. Supported in part by NIH grant HL 05883 and the Swedish Work Environmental Fund. 相似文献
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Nuclear histones and early embryogenesis of the chick 总被引:1,自引:0,他引:1
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Zusammenfassung Nach Formaldehydfixation und Vorbehandlung mit dem Carcinogen DMBA oder Äthylphenylpropiolat (das nicht cancerogen oder co-cancerogen wirkt) wird in der Epidermis der Maus eine Tryptophanbedingte blaue Fluoreszenz gefunden. Die gelbe Fluoreszenz in den Mastzellen beruht auf 5-HT. 相似文献
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介绍了轿车车门断面设计的基本方法,探讨了控制断面的作用和设置原则.结合车门间隙、车门密封、车门运动校核及车门结构件连接等具体设计过程,分析了车门断面设计中需要考虑的控制要素,阐述了轿车车门断面设计的基本思路和程序. 相似文献