共查询到20条相似文献,搜索用时 15 毫秒
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Y Li J E Slansky D J Myers N R Drinkwater W G Kaelin P J Farnham 《Molecular and cellular biology》1994,14(3):1861-1869
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Schön P Tsuchiya K Lenoir D Mochizuki T Guichard C Takai S Maiti AK Nihei H Weil J Yokoyama T Bouvagnet P 《Human genetics》2002,110(2):157-165
Determination of left-right axis is a precocious embryonic event, and all phenotypic anomalies resulting from disruption of the normal lateralization process are collectively referred to as the lateralization defect. A transgenic mouse with lateralization defect and hepatic, kidney, and pancreatic anomalies has resulted from disruption of the inv gene by insertion of a transgene. The human ortholog is thus a good candidate for lateralization defect in humans, in particular in cases with associated hepatic anomalies. Here, we have identified, mapped, and characterized the INV human gene and screened a series of heterotaxic patients (with or without biliary anomalies) for mutation in this gene. In a German family of Turkish origin, we have found that all available affected and unaffected individuals are heterozygous for a mutation in the splicing donor site of intron 12 in the INV gene resulting in two different aberrant splicing isoforms. This can be explained either by a randomization of lateralization defects or, as suggested earlier, di- or trigenic inheritance, although we have been unable to detect, in this family, a mutation in genes known to be involved in the human lateralization defect ( LEFTY1, LEFTY2, ACVR2B, NODAL, ZIC3, and CFC1). In contrast to the mouse, the affected individuals have no biliary anomalies, and the absence of mutation in a series of seven cases with lateralization defect and biliary anomalies demonstrates that INV is not frequently involved in such a phenotype in humans. 相似文献
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Mohibi S Gurumurthy CB Nag A Wang J Mirza S Mian Y Quinn M Katafiasz B Eudy J Pandey S Guda C Naramura M Band H Band V 《The Journal of biological chemistry》2012,287(35):29442-29456
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Homologous recombination in human embryonic stem cells 总被引:24,自引:0,他引:24
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