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排序方式: 共有45条查询结果,搜索用时 15 毫秒
1.
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
2.
Davila S Furu L Gharavi AG Tian X Onoe T Qian Q Li A Cai Y Kamath PS King BF Azurmendi PJ Tahvanainen P Kääriäinen H Höckerstedt K Devuyst O Pirson Y Martin RS Lifton RP Tahvanainen E Torres VE Somlo S 《Nature genetics》2004,36(6):575-577
Mutations in PRKCSH, encoding the beta-subunit of glucosidase II, an N-linked glycan-processing enzyme in the endoplasmic reticulum (ER), cause autosomal dominant polycystic liver disease. We found that mutations in SEC63, encoding a component of the protein translocation machinery in the ER, also cause this disease. These findings are suggestive of a role for cotranslational protein-processing pathways in maintaining epithelial luminal structure and implicate noncilial ER proteins in human polycystic disease. 相似文献
3.
Active genes are tri-methylated at K4 of histone H3 总被引:92,自引:0,他引:92
Santos-Rosa H Schneider R Bannister AJ Sherriff J Bernstein BE Emre NC Schreiber SL Mellor J Kouzarides T 《Nature》2002,419(6905):407-411
Lysine methylation of histones in vivo occurs in three states: mono-, di- and tri-methyl. Histone H3 has been found to be di-methylated at lysine 4 (K4) in active euchromatic regions but not in silent heterochromatic sites. Here we show that the Saccharomyces cerevisiae Set1 protein can catalyse di- and tri-methylation of K4 and stimulate the activity of many genes. Using antibodies that discriminate between the di- and tri-methylated state of K4 we show that di-methylation occurs at both inactive and active euchromatic genes, whereas tri-methylation is present exclusively at active genes. It is therefore the presence of a tri-methylated K4 that defines an active state of gene expression. These findings establish the concept of methyl status as a determinant for gene activity and thus extend considerably the complexity of histone modifications. 相似文献
4.
Helena De Preester 《Foundations of Science》2012,17(4):385-390
The main suggestions and objections raised by Don Ihde and Charles Lenay to my ‘Technology and the body: the (im)possibilities of re-embodiment’ are summarized and discussed. On the one hand, I agree that we should pay more attention to whole body experience and to further resisting Cartesian assumptions in the field of cognitive neuroscience and philosophy of cognition. On the other hand, I explain that my account in no way presupposes the myth of ‘natural man’ or of a natural, delineated body from before the fall into technology. 相似文献
5.
6.
Ultrastructure of a mucous gland cell found in the tube feet of the starfishAsterina stellifera 总被引:1,自引:0,他引:1
Helena de Souza Santos 《Cellular and molecular life sciences : CMLS》1966,22(12):812-813
Resumen Es describida la ultraestrutura de un segundo tipo de célula glandular mucosa que es encontrada en el pié ambulacrario de la estrella del marAsterina stellifera. Los gránulos secretores de esta célula tienen en su interior una ultraestrutura en forma de pequeños puntos densos y delicadas fibrillas, mas faltando una organizatión, principalmente comparada con la organizatión del otro tipo de granulo mucoso, también encontrado en el mismo pié ambulacrario. 相似文献
7.
Helena de Souza Santos W. da Silva Sasso 《Cellular and molecular life sciences : CMLS》1961,17(1):17-19
Résumé L'auteur constate que dans la dent du Requin du genreOdontaspis l'ultrastucture de la substance qui recouvre la dentine est morphologiquement très semblable à celle de l'émail de la dent humaine. Par diffraction électronique le composant cristallin de l'émail du Requin a été déterminé comme étant del'apatite. Ces résultats montrent que le revêtement externe de la dent d'Odontaspis peut être considéré comme un véritable émail. 相似文献
8.
Inhibitory neurotransmission mediated by GABA(A) receptors can be modulated by the endogenous neurosteroids, allopregnanolone and tetrahydro-deoxycorticosterone. Neurosteroids are synthesized de novo in the brain during stress, pregnancyand after ethanol consumption, and disrupted steroid regulation of GABAergic transmission is strongly implicated in several debilitating conditions such as panic disorder, major depression, schizophrenia, alcohol dependence and catamenial epilepsy. Determining how neurosteroids interact with the GABA(A) receptor is a prerequisite for understanding their physiological and pathophysiological roles in the brain. Here we identify two discrete binding sites in the receptor's transmembrane domains that mediate the potentiating and direct activation effects of neurosteroids. They potentiate GABA responses from a cavity formed by the alpha-subunit transmembrane domains, whereas direct receptor activation is initiated by interfacial residues between alpha and beta subunits and is enhanced by steroid binding to the potentiation site. Thus, significant receptor activation by neurosteroids relies on occupancy of both the activation and potentiation sites. These sites are highly conserved throughout the GABA(A )receptor family, and their identification provides a unique opportunity for the development of new therapeutic, neurosteroid-based ligands and transgenic disease models of neurosteroid dysfunction. 相似文献
9.
Helena Knyazeva 《Foundations of Science》2009,14(3):167-179
The modern conception of enactive cognition is under discussion from the standpoint concerning the notions of nonlinear dynamics
and synergetics. The contribution of Francisco Varela and his precursors is considered. It is shown that the perceptual and
mental processes are bound up with the “architecture” of human body and nonlinear and circular connecting links between the
subject of cognition and the world constructed by him can be metaphorically called a nonlinear cobweb of cognition. Cognition
is an autopoietic activity because it is directed to the search of elements that are missed; it serves to completing integral
structures.
相似文献
Helena KnyazevaEmail: |
10.
Jialu Chen Jemima J.Davies Alister S.Goodfellow Sarah M.D.Hall Helena G.Lancaster Xinyu Liu Cameron J.Rhodes Wuzong Zhou 《自然科学进展(英文版)》2021,31(1):141-151
Dendritic silver and copper crystals were produced via Galvanic replacement reactions on zinc and aluminum plates, respectively. The growth orientations of these metals were determined using electron microscopy. The results showed that a fast crystal growth associated with a high concentration of metal cations led to kinetically controlled growth along the <112> axes of the cubic close-packed structures. However, a slow growth rate resulted in thermodynamically controlled growth along the ... 相似文献