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Péterfy M Ben-Zeev O Mao HZ Weissglas-Volkov D Aouizerat BE Pullinger CR Frost PH Kane JP Malloy MJ Reue K Pajukanta P Doolittle MH 《Nature genetics》2007,39(12):1483-1487
Hypertriglyceridemia is a hallmark of many disorders, including metabolic syndrome, diabetes, atherosclerosis and obesity. A well-known cause is the deficiency of lipoprotein lipase (LPL), a key enzyme in plasma triglyceride hydrolysis. Mice carrying the combined lipase deficiency (cld) mutation show severe hypertriglyceridemia owing to a decrease in the activity of LPL and a related enzyme, hepatic lipase (HL), caused by impaired maturation of nascent LPL and hepatic lipase polypeptides in the endoplasmic reticulum (ER). Here we identify the gene containing the cld mutation as Tmem112 and rename it Lmf1 (Lipase maturation factor 1). Lmf1 encodes a transmembrane protein with an evolutionarily conserved domain of unknown function that localizes to the ER. A human subject homozygous for a deleterious mutation in LMF1 also shows combined lipase deficiency with concomitant hypertriglyceridemia and associated disorders. Thus, through its profound effect on lipase activity, LMF1 emerges as an important candidate gene in hypertriglyceridemia. 相似文献
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Materials Science: erasing electron mass 总被引:3,自引:0,他引:3
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Jun Yang Ying Wu Ping Ma Yanhua Zhao Ying You Susan E. Kane Ning Mao Yangpei Zhang 《科学通报(英文版)》2000,45(15):1390-1394
A series of retro viral vectors encoding humanmdr1 gene alone as wetl as in combination with either humanmgmt gene or human mutantSer
31-dhfr gene are engineered. The resultant retroviruses are used to transduce human umbilical cord blood CD34+ cetls. It has been shown that expression of dual drug resistance genes in transduced cetls confers a broad range of resistance
to both kinds of corresponding drugs. These data suggest a rationale for the use of such double chemoresistance gene constructs
in anin vivo model in which transduced hematopoietic cetls will acquire multiple protection against the cytotoxic side effects of combination
chemotherapy and may have future application in chemoprotection of normal tissues, thus killing tumor cetls more effectivety. 相似文献
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岩石扩容与巷道底臌 总被引:1,自引:0,他引:1
康红普 《辽宁工程技术大学学报(自然科学版)》1992,(3)
岩石扩容与围岩性质及应力状态密切相关.本文在描述岩石扩容现象的基础上,运用现有的岩石扩容本构方程,得出了求解扩容引起的底臌量的表达式,它适用于煤矿井下巷道.基于该公式,分析了实际巷道中扩容对底臌的影响程度及与之有关的诸因素.最后阐明了在软岩、大地压巷道中,扩容是引起底臌的一个重要原因,并论述了各种防治底臌的措施控制岩石扩容的机理. 相似文献
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A brain-specific microRNA regulates dendritic spine development 总被引:6,自引:0,他引:6
Schratt GM Tuebing F Nigh EA Kane CG Sabatini ME Kiebler M Greenberg ME 《Nature》2006,439(7074):283-289
MicroRNAs are small, non-coding RNAs that control the translation of target messenger RNAs, thereby regulating critical aspects of plant and animal development. In the mammalian nervous system, the spatiotemporal control of mRNA translation has an important role in synaptic development and plasticity. Although a number of microRNAs have been isolated from the mammalian brain, neither the specific microRNAs that regulate synapse function nor their target mRNAs have been identified. Here we show that a brain-specific microRNA, miR-134, is localized to the synapto-dendritic compartment of rat hippocampal neurons and negatively regulates the size of dendritic spines--postsynaptic sites of excitatory synaptic transmission. This effect is mediated by miR-134 inhibition of the translation of an mRNA encoding a protein kinase, Limk1, that controls spine development. Exposure of neurons to extracellular stimuli such as brain-derived neurotrophic factor relieves miR-134 inhibition of Limk1 translation and in this way may contribute to synaptic development, maturation and/or plasticity. 相似文献
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Wang Y Putnam CD Kane MF Zhang W Edelmann L Russell R Carrión DV Chin L Kucherlapati R Kolodner RD Edelmann W 《Nature genetics》2005,37(7):750-755
Most cancers have multiple chromosomal rearrangements; the molecular mechanisms that generate them remain largely unknown. Mice carrying a heterozygous missense change in one of the DNA-binding domains of Rpa1 develop lymphoid tumors, and their homozygous littermates succumb to early embryonic lethality. Array comparative genomic hybridization of the tumors identified large-scale chromosomal changes as well as segmental gains and losses. The Rpa1 mutation resulted in defects in DNA double-strand break repair and precipitated chromosomal breaks as well as aneuploidy in primary heterozygous mutant mouse embryonic fibroblasts. The equivalent mutation in yeast is hypomorphic and semidominant and enhanced the formation of gross chromosomal rearrangements in multiple genetic backgrounds. These results indicate that Rpa1 functions in DNA metabolism are essential for the maintenance of chromosomal stability and tumor suppression. 相似文献
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Harold J. Cook Nicholas H. Steneck Arthur J. Vander Gordon L. Kane 《Annals of science》2013,70(3):323-351
Two overriding considerations shaped the development of early research on the biological effects of microwave radiation—possible medical application (diathermy) and uncertainty about the hazards of exposure to radar. Reports in the late 1940s and early 1950s of hazards resulting from microwave exposure led to the near abandonment of medical research related to microwave diathermy at the same time that military and industrial concern over hazards grew, culminating in the massive research effort known as ‘the Tri-Service program’ (1957–1960). Both the early focus on medical application and the later search for hazards played important roles in dictating how this field of research developed as a science. 相似文献
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