排序方式: 共有23条查询结果,搜索用时 31 毫秒
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Crow YJ Hayward BE Parmar R Robins P Leitch A Ali M Black DN van Bokhoven H Brunner HG Hamel BC Corry PC Cowan FM Frints SG Klepper J Livingston JH Lynch SA Massey RF Meritet JF Michaud JL Ponsot G Voit T Lebon P Bonthron DT Jackson AP Barnes DE Lindahl T 《Nature genetics》2006,38(8):917-920
Aicardi-Goutières syndrome (AGS) presents as a severe neurological brain disease and is a genetic mimic of the sequelae of transplacentally acquired viral infection. Evidence exists for a perturbation of innate immunity as a primary pathogenic event in the disease phenotype. Here, we show that TREX1, encoding the major mammalian 3' --> 5' DNA exonuclease, is the AGS1 gene, and AGS-causing mutations result in abrogation of TREX1 enzyme activity. Similar loss of function in the Trex1(-/-) mouse leads to an inflammatory phenotype. Our findings suggest an unanticipated role for TREX1 in processing or clearing anomalous DNA structures, failure of which results in the triggering of an abnormal innate immune response. 相似文献
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Xia B Dorsman JC Ameziane N de Vries Y Rooimans MA Sheng Q Pals G Errami A Gluckman E Llera J Wang W Livingston DM Joenje H de Winter JP 《Nature genetics》2007,39(2):159-161
The Fanconi anemia and BRCA networks are considered interconnected, as BRCA2 gene defects have been discovered in individuals with Fanconi anemia subtype D1. Here we show that a defect in the BRCA2-interacting protein PALB2 is associated with Fanconi anemia in an individual with a new subtype. PALB2-deficient cells showed hypersensitivity to cross-linking agents and lacked chromatin-bound BRCA2; these defects were corrected upon ectopic expression of PALB2 or by spontaneous reversion. 相似文献
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Infectious C-type virus isolated from a baboon placenta 总被引:60,自引:0,他引:60
R E Benveniste M M Lieber D M Livingston C J Sherr G J Todaro S S Kalter 《Nature》1974,248(443):17-20
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New records for bushy-tailed wood rat ( Neotoma cinerea ) on the White Mountains of eastern California increase the elevation from which this animal is known on the White Mountains, outside of human habitation, from 3,120 to 3,648 m. These records, coupled with archaeological data, suggest that the isolated bouldery outcrops occupied by bushy-tailed wood rats above timberline here are true habitat islands, occasionally colonized by dispersing individuals and characterized by frequent local extinction. 相似文献
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A recurrent mutation in PALB2 in Finnish cancer families 总被引:1,自引:0,他引:1
Erkko H Xia B Nikkilä J Schleutker J Syrjäkoski K Mannermaa A Kallioniemi A Pylkäs K Karppinen SM Rapakko K Miron A Sheng Q Li G Mattila H Bell DW Haber DA Grip M Reiman M Jukkola-Vuorinen A Mustonen A Kere J Aaltonen LA Kosma VM Kataja V Soini Y Drapkin RI Livingston DM Winqvist R 《Nature》2007,446(7133):316-319
BRCA1, BRCA2 and other known susceptibility genes account for less than half of the detectable hereditary predisposition to breast cancer. Other relevant genes therefore remain to be discovered. Recently a new BRCA2-binding protein, PALB2, was identified. The BRCA2-PALB2 interaction is crucial for certain key BRCA2 DNA damage response functions as well as its tumour suppression activity. Here we show, by screening for PALB2 mutations in Finland that a frameshift mutation, c.1592delT, is present at significantly elevated frequency in familial breast cancer cases compared with ancestry-matched population controls. The truncated PALB2 protein caused by this mutation retained little BRCA2-binding capacity and was deficient in homologous recombination and crosslink repair. Further screening of c.1592delT in unselected breast cancer individuals revealed a roughly fourfold enrichment of this mutation in patients compared with controls. Most of the mutation-positive unselected cases had a familial pattern of disease development. In addition, one multigenerational prostate cancer family that segregated the c.1592delT truncation allele was observed. These results indicate that PALB2 is a breast cancer susceptibility gene that, in a suitably mutant form, may also contribute to familial prostate cancer development. 相似文献
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Danyi Yang Man J. Livingston Zhiwen Liu Guie Dong Ming Zhang Jian-Kang Chen Zheng Dong 《Cellular and molecular life sciences : CMLS》2018,75(4):669-688
Diabetic kidney disease, a leading cause of end-stage renal disease, has become a serious public health problem worldwide and lacks effective therapies. Autophagy is a highly conserved lysosomal degradation pathway that removes protein aggregates and damaged organelles to maintain cellular homeostasis. As important stress-responsive machinery, autophagy is involved in the pathogenesis of various diseases. Emerging evidence has suggested that dysregulated autophagy may contribute to both glomerular and tubulointerstitial pathologies in kidneys under diabetic conditions. This review summarizes the recent findings regarding the role of autophagy in the pathogenesis of diabetic kidney disease and highlights the regulation of autophagy by the nutrient-sensing pathways and intracellular stress signaling in this disease. The advances in our understanding of autophagy in diabetic kidney disease will facilitate the discovery of a new therapeutic target for the prevention and treatment of this life-threatening diabetes complication. 相似文献
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David P. Livingston III Dirk K. Hincha Arnd G. Heyer 《Cellular and molecular life sciences : CMLS》2009,66(13):2007-2023
Numerous studies have been published that attempted to correlate fructan concentrations with freezing and drought tolerance.
Studies investigating the effect of fructan on liposomes indicated that a direct interaction between membranes and fructan
was possible. This new area of research began to move fructan and its association with stress beyond mere correlation by confirming
that fructan has the capacity to stabilize membranes during drying by inserting at least part of the polysaccharide into the
lipid headgroup region of the membrane. This helps prevent leakage when water is removed from the system either during freezing
or drought. When plants were transformed with the ability to synthesize fructan, a concomitant increase in drought and/or
freezing tolerance was confirmed. These experiments indicate that besides an indirect effect of supplying tissues with hexose
sugars, fructan has a direct protective effect that can be demonstrated by both model systems and genetic transformation. 相似文献