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11.
Bis JC DeCarli C Smith AV van der Lijn F Crivello F Fornage M Debette S Shulman JM Schmidt H Srikanth V Schuur M Yu L Choi SH Sigurdsson S Verhaaren BF DeStefano AL Lambert JC Jack CR Struchalin M Stankovich J Ibrahim-Verbaas CA Fleischman D Zijdenbos A den Heijer T Mazoyer B Coker LH Enzinger C Danoy P Amin N Arfanakis K van Buchem MA de Bruijn RF Beiser A Dufouil C Huang J Cavalieri M Thomson R Niessen WJ Chibnik LB Gislason GK Hofman A Pikula A Amouyel P Freeman KB Phan TG Oostra BA Stein JL 《Nature genetics》2012,44(5):545-551
Aging is associated with reductions in hippocampal volume that are accelerated by Alzheimer's disease and vascular risk factors. Our genome-wide association study (GWAS) of dementia-free persons (n = 9,232) identified 46 SNPs at four loci with P values of <4.0 × 10(-7). In two additional samples (n = 2,318), associations were replicated at 12q14 within MSRB3-WIF1 (discovery and replication; rs17178006; P = 5.3 × 10(-11)) and at 12q24 near HRK-FBXW8 (rs7294919; P = 2.9 × 10(-11)). Remaining associations included one SNP at 2q24 within DPP4 (rs6741949; P = 2.9 × 10(-7)) and nine SNPs at 9p33 within ASTN2 (rs7852872; P = 1.0 × 10(-7)); along with the chromosome 12 associations, these loci were also associated with hippocampal volume (P < 0.05) in a third younger, more heterogeneous sample (n = 7,794). The SNP in ASTN2 also showed suggestive association with decline in cognition in a largely independent sample (n = 1,563). These associations implicate genes related to apoptosis (HRK), development (WIF1), oxidative stress (MSR3B), ubiquitination (FBXW8) and neuronal migration (ASTN2), as well as enzymes targeted by new diabetes medications (DPP4), indicating new genetic influences on hippocampal size and possibly the risk of cognitive decline and dementia. 相似文献
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Extensive and coordinated transcription of noncoding RNAs within cell-cycle promoters 总被引:5,自引:0,他引:5
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Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme,in spinocerebellar ataxia with axonal neuropathy 总被引:14,自引:0,他引:14
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Benjamin Förthmann Hella Brinkmann Andreas Ratzka Michal K. Stachowiak Claudia Grothe Peter Claus 《Cellular and molecular life sciences : CMLS》2013,70(14):2555-2568
Reduced levels of survival of motoneuron (SMN) protein lead to spinal muscular atrophy, but it is still unknown how SMN protects motoneurons in the spinal cord against degeneration. In the nucleus, SMN is associated with two types of nuclear bodies denoted as gems and Cajal bodies (CBs). The 23 kDa isoform of fibroblast growth factor-2 (FGF-223) is a nuclear protein that binds to SMN and destabilizes the SMN-Gemin2 complex. In the present study, we show that FGF-223 depletes SMN from CBs without affecting their general structure. FRAP analysis of SMN-EGFP in CBs demonstrated that the majority of SMN in CBs remained mobile and allowed quantification of fast, slow and immobile nuclear SMN populations. The potential for SMN release was confirmed by in vivo photoconversion of SMN-Dendra2, indicating that CBs concentrate immobile SMN that could have a specialized function in CBs. FGF-223 accelerated SMN release from CBs, accompanied by a conversion of immobile SMN into a mobile population. Furthermore, FGF-223 caused snRNP accumulation in CBs. We propose a model in which Cajal bodies store immobile SMN that can be mobilized by its nuclear interaction partner FGF-223, leading to U4 snRNP accumulation in CBs, indicating a role for immobile SMN in tri-snRNP assembly. 相似文献
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Abundance, seasonal use, and species composition of waterfowl and other aquatic birds are described along a 32.8 km stretch of the White River, Uintah County, Utah, at the site of the proposed White River Dam. Fourteen species of waterfowl and eight other species of aquatic birds were recorded. Waterfowl populations along the river were highest in April, but densities were much lower than on lakes and reservoirs at nearby Ouray National Wildlife Refuge. 相似文献
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This report includes data collected during an investigation by Brigham Young University personnel from 1971 to 1976, as well as a literature review. The fauna of the Kaiparowits Basin is represented by 7 species of amphibians (1 salamander, 5 toads, and 1 tree frog), 29 species of reptiles (1 turtle, 16 lizards, and 12 snakes), 183 species of birds (plus 2 hypothetical), and 74 species of mammals. Geographic distribution of the various species within the basin are discussed. Birds are categorized according to their population and seasonal status. Avian habitat relationships are discussed, and extensions of range are reported for 5 species of birds. Three threatened or endangered avian species occur in the basin. Four avian species seem to have declined significantly in numbers in recent years. 相似文献
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Kerkel K Spadola A Yuan E Kosek J Jiang L Hod E Li K Murty VV Schupf N Vilain E Morris M Haghighi F Tycko B 《Nature genetics》2008,40(7):904-908
Allele-specific DNA methylation (ASM) is a hallmark of imprinted genes, but ASM in the larger nonimprinted fraction of the genome is less well characterized. Using methylation-sensitive SNP analysis (MSNP), we surveyed the human genome at 50K and 250K resolution, identifying ASM as recurrent genotype call conversions from heterozygosity to homozygosity when genomic DNAs were predigested with the methylation-sensitive restriction enzyme HpaII. Using independent assays, we confirmed ASM at 16 SNP-tagged loci distributed across various chromosomes. At 12 of these loci (75%), the ASM tracked strongly with the sequence of adjacent SNPs. Further analysis showed allele-specific mRNA expression at two loci from this methylation-based screen--the vanin and CYP2A6-CYP2A7 gene clusters--both implicated in traits of medical importance. This recurrent phenomenon of sequence-dependent ASM has practical implications for mapping and interpreting associations of noncoding SNPs and haplotypes with human phenotypes. 相似文献