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  • 1
    Online Resource
    Online Resource
    Proceedings of the National Academy of Sciences ; 2019
    In:  Proceedings of the National Academy of Sciences Vol. 116, No. 14 ( 2019-04-02), p. 6586-6593
    In: Proceedings of the National Academy of Sciences, Proceedings of the National Academy of Sciences, Vol. 116, No. 14 ( 2019-04-02), p. 6586-6593
    Abstract: Low-dimensional nanomaterials, such as one-dimensional (1D) nanomaterials and layered 2D materials, have exhibited significance for their respective unique electronic and optoelectronic properties. Here we show that a mixed-dimensional heterostructure with building blocks from multiple dimensions will present a synergistic effect on photodetection. A carbon nanotube (CNT)– W S e 2 –graphene photodetector is representative on this issue. Its spatial resolution can be electrically switched between high-resolution mode (HRM) and low-resolution mode (LRM) revealed by scanning photocurrent microscopy (SPCM). The reconfigurable spatial resolution can be attributed to the asymmetric geometry and the gate-tunable Fermi levels of these low-dimensional materials. Significantly, an interference fringe with 334 nm in period was successfully discriminated by the device working at HRM, confirming the efficient electrical control. Electrical control of spatial resolution in CNT– W S e 2 –graphene devices reveals the potential of the mixed-dimensional architectures in future nanoelectronics and nano-optoelectronics.
    Type of Medium: Online Resource
    ISSN: 0027-8424 , 1091-6490
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    Language: English
    Publisher: Proceedings of the National Academy of Sciences
    Publication Date: 2019
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  • 2
    In: Journal of Medical Genetics, BMJ, Vol. 57, No. 11 ( 2020-11), p. 744-751
    Abstract: Von Hippel-Lindau (VHL) disease is an autosomal dominant genetic tumour syndrome resulting from mutations in the VHL gene lineage, and its prognosis is generally poor. This study aimed to provide a more valuable genotype–phenotype correlation based on the Elongin C binding site in VHL disease. Methods This study included 553 patients (194 families) who were diagnosed with VHL disease in our centre from September 2010 to February 2019. According to the type of gene mutation, the patients were divided into the Elongin C binding site missense mutation (EM) group, the non-Elongin C binding site missense mutation (nEM) group and the truncation mutation (TR) group. We analysed and compared the age-related tumour risk and prognosis of the three groups. Results A total of 14 new intragenic mutations were found in this cohort. The age-related risk of central nervous system haemangioblastoma (CHB) and pancreatic tumour in the EM group was lower than in the combined nEM-TR group, while the corresponding risk of pheochromocytoma (PHEO) was higher. Additionally, the prognoses of EM and nEM-TR were analysed. The median survival period in the EM group was longer than that in the nEM-TR group, and both the total survival and the CHB-specific survival of the EM group were better than those of the nEM-TR group. Conclusion In conclusion, our study demonstrated that the EM was an independent risk factor for PHEO. The EM is also an independent protective factor for CHB age-related risk, overall survival and CHB-specific survival in VHL disease. This modified genotype–phenotype correlation integrates gene mutation, the Elongin B binding site, and phenotypic diversity and provides a reference for clinical diagnosis.
    Type of Medium: Online Resource
    ISSN: 0022-2593 , 1468-6244
    RVK:
    Language: English
    Publisher: BMJ
    Publication Date: 2020
    detail.hit.zdb_id: 2009590-9
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  • 3
    Online Resource
    Online Resource
    Proceedings of the National Academy of Sciences ; 2018
    In:  Proceedings of the National Academy of Sciences Vol. 115, No. 27 ( 2018-07-03), p. 6928-6933
    In: Proceedings of the National Academy of Sciences, Proceedings of the National Academy of Sciences, Vol. 115, No. 27 ( 2018-07-03), p. 6928-6933
    Abstract: The interlayer coupling can be used to engineer the electronic structure of van der Waals heterostructures (superlattices) to obtain properties that are not possible in a single material. So far research in heterostructures has been focused on commensurate superlattices with a long-ranged Moiré period. Incommensurate heterostructures with rotational symmetry but not translational symmetry (in analogy to quasicrystals) are not only rare in nature, but also the interlayer interaction has often been assumed to be negligible due to the lack of phase coherence. Here we report the successful growth of quasicrystalline 30° twisted bilayer graphene (30°-tBLG), which is stabilized by the Pt(111) substrate, and reveal its electronic structure. The 30°-tBLG is confirmed by low energy electron diffraction and the intervalley double-resonance Raman mode at 1383 cm −1 . Moreover, the emergence of mirrored Dirac cones inside the Brillouin zone of each graphene layer and a gap opening at the zone boundary suggest that these two graphene layers are coupled via a generalized Umklapp scattering mechanism—that is, scattering of a Dirac cone in one graphene layer by the reciprocal lattice vector of the other graphene layer. Our work highlights the important role of interlayer coupling in incommensurate quasicrystalline superlattices, thereby extending band structure engineering to incommensurate superstructures.
    Type of Medium: Online Resource
    ISSN: 0027-8424 , 1091-6490
    RVK:
    RVK:
    Language: English
    Publisher: Proceedings of the National Academy of Sciences
    Publication Date: 2018
    detail.hit.zdb_id: 209104-5
    detail.hit.zdb_id: 1461794-8
    SSG: 11
    SSG: 12
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  • 4
    In: Journal of Medical Genetics, BMJ, Vol. 60, No. 5 ( 2023-05), p. 477-483
    Abstract: Approximately 20%–40% of patients with von Hippel-Lindau (VHL) disease, an autosomal dominant hereditary disease, exhibit large deletions (LDs). Few studies have focused on this population. Hence, we aimed to elucidate the genotype–phenotype correlations and clinical outcomes in VHL patients with LDs. Methods In this retrospective study, we included 119 patients with VHL disease from 50 unrelated families in whom LDs were detected using traditional and next-generation sequencing methods. Other germline mutations were confirmed by Sanger sequencing. Genotype–phenotype correlations and survival were analysed in different groups using Kaplan-Meier and Cox regression. We also evaluated therapeutic response to tyrosine kinase inhibitor (TKI) therapy. Results The overall penetrance of patients aged 〈 60 was 95.2%. Two VHL patients with LDs also carried CHEK2 and FLCN germline mutations. An earlier age of onset of retinal haemangioblastoma was observed in the next generation. Patients with exon 2 deletion of VHL had an earlier onset age of renal cell carcinoma and pancreatic lesions. The risk of renal cell carcinoma was lower in VHL patients with LDs and a BRK1 deletion. The group with earlier age of onset received poorer prognosis. Four of eight (50%) patients showed partial response to TKI therapy. Conclusion The number of generations and the status of exon 2 could affect age of onset of VHL-related manifestations. Onset age was an independent risk factor for overall survival. TKI therapy was effective in VHL patients with LDs. Our findings would further support clinical surveillance and decision-making processes.
    Type of Medium: Online Resource
    ISSN: 0022-2593 , 1468-6244
    RVK:
    Language: English
    Publisher: BMJ
    Publication Date: 2023
    detail.hit.zdb_id: 2009590-9
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  • 5
    Online Resource
    Online Resource
    IOP Publishing ; 2023
    In:  Physics in Medicine & Biology Vol. 68, No. 16 ( 2023-08-21), p. 165001-
    In: Physics in Medicine & Biology, IOP Publishing, Vol. 68, No. 16 ( 2023-08-21), p. 165001-
    Abstract: Rectal cancer is one of the most common malignancies in the gastrointestinal tract. Currently, magnetic resonance imaging has become a vital tool in diagnosing and treating patients with rectal cancer. Notably, early diagnosis of rectal cancer can help improve patient survival rate; however, the clinical expertize of physicians is a limiting factor. Therefore, we propose an attention-based multiscale densely connected convolutional neural network based on an attention mechanism to improve the accuracy of diagnosis by automatically segmenting rectal tumors from two-dimensional (2D) magnetic resonance images (MRI) using computer-aided diagnostic techniques. First, to address the inability of U-Net (a classical segmentation network for medical images) and extract rich semantic features and the inconsistent shape and size of tumors between different patients, we replace the conventional convolutional blocks in the U-Net network with multiscale densely connected convolutional blocks. Second, to make the network focus better on global contextual information, we add central blocks with atrous convolution in the final coding layer or the last coding layer. Finally, we add a hybrid attention mechanism to each decoder module to help the model focus on the features of the rectal tumor region. We validated the effectiveness of the proposed method using 3773 2D MRI datasets from 572 patients. The sensitivity, specificity, Dice correlation coefficient, and Hausdorff distance of MRI rectal tumor segmentation were 85.47%, 86.35%, 94.71%, and 7.88 mm, respectively. The results showed that the proposed method outperforms conventional approaches. Moreover, the proposed method has better segmentation results in the rectal tumor segmentation task and can provide physicians with the second-most important clinical diagnostic opinion.
    Type of Medium: Online Resource
    ISSN: 0031-9155 , 1361-6560
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    Language: Unknown
    Publisher: IOP Publishing
    Publication Date: 2023
    detail.hit.zdb_id: 1473501-5
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  • 6
    In: Leukemia, Springer Science and Business Media LLC, Vol. 36, No. 12 ( 2022-12), p. 2835-2844
    Type of Medium: Online Resource
    ISSN: 0887-6924 , 1476-5551
    RVK:
    Language: English
    Publisher: Springer Science and Business Media LLC
    Publication Date: 2022
    detail.hit.zdb_id: 2008023-2
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  • 7
    In: Journal of Medical Genetics, BMJ, Vol. 59, No. 10 ( 2022-10), p. 951-956
    Abstract: Von Hippel-Lindau (VHL) disease is an autosomal dominant genetic tumour syndrome with poor prognosis. The clinical manifestation was found to be more serious in affected offspring of patients with VHL disease, but the risk factors and survival for them have never been reported before. We aimed to explore how these patients were influenced by genetic and clinical factors. Methods In this retrospective study, we collected 372 affected offspring of VHL patients from 118 unrelated VHL families. Patients were stratified into different groups based on sets of variables. The age-related risk, overall survival and central nervous systemhaemangioblastoma (CHB)-specific survival were analysed between different groups using Kaplan-Meier survival analysis and Cox regression analysis. Results The estimated median life expectancy and median age of onset for affected offspring of VHL patients were 66 years and 28 years, respectively. The later generation and patients with mutations in exon 3 had an earlier onset age. The first presenting symptom was the only independent risk factor influencing overall survival and CHB-specific survival. Patients that the first presenting symptom is central nervous system (CNS) significantly had a lower life expectancy both in overall survival and CHB-specific survival analysis than abdominal lesions group. Conclusion This study indicated that affected offspring of VHL patients with CNS as the first presenting symptom was an independent risk factor for overall survival and CHB-specific survival. Generation and mutation region only had an effect on the onset age, which is helpful to clinical decision-making and generate a more precise surveillance protocol.
    Type of Medium: Online Resource
    ISSN: 0022-2593 , 1468-6244
    RVK:
    Language: English
    Publisher: BMJ
    Publication Date: 2022
    detail.hit.zdb_id: 2009590-9
    SSG: 12
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  • 8
    In: Leukemia, Springer Science and Business Media LLC, Vol. 37, No. 10 ( 2023-10), p. 2142-2142
    Type of Medium: Online Resource
    ISSN: 0887-6924 , 1476-5551
    RVK:
    Language: English
    Publisher: Springer Science and Business Media LLC
    Publication Date: 2023
    detail.hit.zdb_id: 2008023-2
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  • 9
    Online Resource
    Online Resource
    Proceedings of the National Academy of Sciences ; 2021
    In:  Proceedings of the National Academy of Sciences Vol. 118, No. 35 ( 2021-08-31)
    In: Proceedings of the National Academy of Sciences, Proceedings of the National Academy of Sciences, Vol. 118, No. 35 ( 2021-08-31)
    Abstract: The dynamics of granular materials are critical to many natural and industrial processes; granular motion is often strikingly similar to flow in conventional liquids. Food, pharmaceutical, and clean energy processes utilize bubbling fluidized beds, systems in which gas is flowed upward through granular particles, suspending the particles in a liquid-like state through which gas voids or bubbles rise. Here, we demonstrate that vibrating these systems at a resonant frequency can transform the normally chaotic motion of these bubbles into a dynamically structured configuration, creating reproducible, controlled motion of particles and gas. The resonant frequency is independent of particle properties and system size, and a simple harmonic oscillator model captures this frequency. Discrete particle simulations show that bubble structuring forms because of rapid, local transitions between solid-like and fluid-like behavior in the grains induced by vibration. Existing continuum models for gas–solid flows struggle to capture these fluid–solid transitions and thus cannot predict the bubble structuring. We propose a constitutive relationship for solids stress that predicts fluid–solid transitions and hence captures the experimental structured bubbling patterns. Similar structuring has been observed by oscillating gas flow in bubbling fluidized beds. We show that vibrating bubbling fluidized beds can produce a more ordered structure, particularly as system size is increased. The scalable structure and continuum model proposed here provide the potential to address major issues with scale-up and optimal operation, which currently limit the use of bubbling fluidized beds in existing and emerging technologies.
    Type of Medium: Online Resource
    ISSN: 0027-8424 , 1091-6490
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    RVK:
    Language: English
    Publisher: Proceedings of the National Academy of Sciences
    Publication Date: 2021
    detail.hit.zdb_id: 209104-5
    detail.hit.zdb_id: 1461794-8
    SSG: 11
    SSG: 12
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  • 10
    In: Proceedings of the National Academy of Sciences, Proceedings of the National Academy of Sciences, Vol. 113, No. 31 ( 2016-08-02)
    Abstract: The rising incidence of antimicrobial resistance (AMR) makes it imperative to understand the underlying mechanisms. Mycobacterium tuberculosis (Mtb) is the single leading cause of death from a bacterial pathogen and estimated to be the leading cause of death from AMR. A pyrido-benzimidazole, 14, was reported to have potent bactericidal activity against Mtb. Here, we isolated multiple Mtb clones resistant to 14. Each had mutations in the putative DNA-binding and dimerization domains of rv2887 , a gene encoding a transcriptional repressor of the MarR family. The mutations in Rv2887 led to markedly increased expression of rv0560c. We characterized Rv0560c as an S -adenosyl- L -methionine-dependent methyltransferase that N -methylates 14, abolishing its mycobactericidal activity. An Mtb strain lacking rv0560c became resistant to 14 by mutating decaprenylphosphoryl-β- d -ribose 2-oxidase (DprE1), an essential enzyme in arabinogalactan synthesis; 14 proved to be a nanomolar inhibitor of DprE1, and methylation of 14 by Rv0560c abrogated this activity. Thus, 14 joins a growing list of DprE1 inhibitors that are potently mycobactericidal. Bacterial methylation of an antibacterial agent, 14, catalyzed by Rv0560c of Mtb, is a previously unreported mechanism of AMR.
    Type of Medium: Online Resource
    ISSN: 0027-8424 , 1091-6490
    RVK:
    RVK:
    Language: English
    Publisher: Proceedings of the National Academy of Sciences
    Publication Date: 2016
    detail.hit.zdb_id: 209104-5
    detail.hit.zdb_id: 1461794-8
    SSG: 11
    SSG: 12
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