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  • Oxford University Press (OUP)  (53)
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  • Oxford University Press (OUP)  (53)
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  • 1
    In: European Journal of Cardio-Thoracic Surgery, Oxford University Press (OUP), Vol. 54, No. 6 ( 2018-12-01), p. 1037-1044
    Type of Medium: Online Resource
    ISSN: 1010-7940 , 1873-734X
    Language: English
    Publisher: Oxford University Press (OUP)
    Publication Date: 2018
    detail.hit.zdb_id: 1500330-9
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  • 2
    In: GigaScience, Oxford University Press (OUP), Vol. 1, No. 1 ( 2012-12)
    Type of Medium: Online Resource
    ISSN: 2047-217X
    Language: English
    Publisher: Oxford University Press (OUP)
    Publication Date: 2012
    detail.hit.zdb_id: 2708999-X
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  • 3
    In: Human Molecular Genetics, Oxford University Press (OUP), Vol. 31, No. 11 ( 2022-06-04), p. 1747-1761
    Abstract: Increasing evidences suggest that mitochondrial dysfunction is implicated in diseases and aging, and whole-genome sequencing (WGS) is the most unbiased method in analyzing the mitochondrial genome (mtDNA). However, the genetic landscape of mtDNA in the Chinese population has not been fully examined. Here, we described the genetic landscape of mtDNA using WGS data from Chinese individuals (n = 3241). We identified 3892 mtDNA variants, of which 3349 (86%) were rare variants. Interestingly, we observed a trend toward extreme heterogeneity of mtDNA variants. Our study observed a distinct purifying selection on mtDNA, which inhibits the accumulation of harmful heteroplasmies at the individual level: (1) mitochondrial dN/dS ratios were much & lt;1; (2) the dN/dS ratio of heteroplasmies was higher than homoplasmies; (3) heteroplasmies had more indels and predicted deleterious variants than homoplasmies. Furthermore, we found that haplogroup M (20.27%) and D (20.15%) had the highest frequencies in the Chinese population, followed by B (18.51%) and F (16.45%). The number of variants per individual differed across haplogroup groups, with a higher number of homoplasmies for the M lineage. Meanwhile, mtDNA copy number was negatively correlated with age but positively correlated with the female sex. Finally, we developed an mtDNA variation database of Chinese populations called MTCards (http://genemed.tech/mtcards/) to facilitate the query of mtDNA variants in this study. In summary, these findings contribute to different aspects of understanding mtDNA, providing a better understanding of the genetic basis of mitochondrial-related diseases.
    Type of Medium: Online Resource
    ISSN: 0964-6906 , 1460-2083
    RVK:
    Language: English
    Publisher: Oxford University Press (OUP)
    Publication Date: 2022
    detail.hit.zdb_id: 1474816-2
    SSG: 12
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  • 4
    In: Plant Physiology, Oxford University Press (OUP), Vol. 187, No. 3 ( 2021-11-03), p. 1619-1635
    Abstract: Warty fruit in cucumber (Cucumis sativus L.) is an important quality trait that greatly affects fruit appearance and market value. The cucumber wart consists of fruit trichomes (spines) and underlying tubercules, in which the existence of spines is prerequisite for tubercule formation. Although several regulators have been reported to mediate spine or tubercule formation, the direct link between spine and tubercule development remains unknown. Here, we found that the basic Helix-Loop-Helix (bHLH) gene HECATE2 (CsHEC2) was highly expressed in cucumber fruit peels including spines and tubercules. Knockout of CsHEC2 by the CRISPR/Cas9 system resulted in reduced wart density and decreased cytokinin (CTK) accumulation in the fruit peel, whereas overexpression of CsHEC2 led to elevated wart density and CTK level. CsHEC2 is directly bound to the promoter of the CTK hydroxylase-like1 gene (CsCHL1) that catalyzes CTK biosynthesis, and activated CsCHL1 expression. Moreover, CsHEC2 physically interacted with GLABROUS3 (CsGL3, a key spine regulator) and Tuberculate fruit (CsTu, a core tubercule formation factor), and such interactions further enhanced CsHEC2-mediated CsCHL1 expression. These data suggested that CsHEC2 promotes wart formation by acting as an important cofactor for CsGL3 and CsTu to directly stimulate CTK biosynthesis in cucumber. Thus, CsHEC2 can serve as a valuable target for molecular breeding of cucumber varieties with different wart density requirements.
    Type of Medium: Online Resource
    ISSN: 0032-0889 , 1532-2548
    RVK:
    Language: English
    Publisher: Oxford University Press (OUP)
    Publication Date: 2021
    detail.hit.zdb_id: 2004346-6
    detail.hit.zdb_id: 208914-2
    SSG: 12
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  • 5
    In: The Journals of Gerontology: Series A, Oxford University Press (OUP), Vol. 78, No. 7 ( 2023-07-08), p. 1083-1091
    Abstract: GrimAge acceleration (GrimAgeAccel) and PhenoAge acceleration (PhenoAgeAccel) are DNA methylation-based markers of accelerated biological aging, standing out in predicting mortality and age-related cardiometabolic morbidities. Causal risk factors for GrimAgeAccel and PhenoAgeAccel are unclear. In this study, we performed 2-sample univariable and multivariable Mendelian randomization (MR) to investigate causal associations of 19 modifiable socioeconomic, lifestyle, and cardiometabolic factors with GrimAgeAccel and PhenoAgeAccel. Instrument variants representing 19 modifiable factors were extracted from genome-wide association studies (GWASs) with up to 1 million Europeans. Summary statistics for GrimAgeAccel and PhenoAgeAccel were derived from a GWAS of 34 710 Europeans. We identified 12 and 8 factors causally associated with GrimAgeAccel and PhenoAgeAccel, respectively. Smoking was the strongest risk factor (β [standard error {SE}]: 1.299 [0.107] year) for GrimAgeAccel, followed by higher alcohol intake, higher waist circumference, daytime napping, higher body fat percentage, higher body mass index, higher C-reactive protein, higher triglycerides, childhood obesity, and type 2 diabetes; whereas education was the strongest protective factor (β [SE]: −1.143 [0.121] year), followed by household income. Furthermore, higher waist circumference (β [SE]: 0.850 [0.269] year) and education (β [SE]: −0.718 [0.151] year) were the leading causal risk and protective factors for PhenoAgeAccel, respectively. Sensitivity analyses strengthened the robustness of these causal associations. Multivariable MR analyses further demonstrated independent effects of the strongest risk and protective factors on GrimAgeAccel and PhenoAgeAccel, respectively. In conclusion, our findings provide novel quantitative evidence on modifiable causal risk factors for accelerated epigenetic aging, suggesting promising intervention targets against age-related morbidity and improving healthy longevity.
    Type of Medium: Online Resource
    ISSN: 1079-5006 , 1758-535X
    Language: English
    Publisher: Oxford University Press (OUP)
    Publication Date: 2023
    detail.hit.zdb_id: 2043927-1
    SSG: 12
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  • 6
    In: Nucleic Acids Research, Oxford University Press (OUP), Vol. 50, No. 16 ( 2022-09-09), p. 9115-9126
    Abstract: A proportion of previously defined benign variants or variants of uncertain significance in humans, which are challenging to identify, may induce an abnormal splicing process. An increasing number of methods have been developed to predict splicing variants, but their performance has not been completely evaluated using independent benchmarks. Here, we manually sourced ∼50 000 positive/negative splicing variants from & gt; 8000 studies and selected the independent splicing variants to evaluate the performance of prediction methods. These methods showed different performances in recognizing splicing variants in donor and acceptor regions, reminiscent of different weight coefficient applications to predict novel splicing variants. Of these methods, 66.67% exhibited higher specificities than sensitivities, suggesting that more moderate cut-off values are necessary to distinguish splicing variants. Moreover, the high correlation and consistent prediction ratio validated the feasibility of integration of the splicing prediction method in identifying splicing variants. We developed a splicing analytics platform called SPCards, which curates splicing variants from publications and predicts splicing scores of variants in genomes. SPCards also offers variant-level and gene-level annotation information, including allele frequency, non-synonymous prediction and comprehensive functional information. SPCards is suitable for high-throughput genetic identification of splicing variants, particularly those located in non-canonical splicing regions.
    Type of Medium: Online Resource
    ISSN: 0305-1048 , 1362-4962
    RVK:
    Language: English
    Publisher: Oxford University Press (OUP)
    Publication Date: 2022
    detail.hit.zdb_id: 1472175-2
    SSG: 12
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  • 7
    In: Age and Ageing, Oxford University Press (OUP), Vol. 51, No. 2 ( 2022-02-02)
    Abstract: China has the biggest stroke burden in the world. Continued measures have been taken to enhance post-stroke rehabilitation management in the last two decades. The weak link is with home-based rehabilitation, with more attention and resources devoted to inpatient rehabilitation. Objective to address the service gap, this study tested a home-based transitional care model for stroke survivors. Methods a randomized controlled trial was conducted from February 2019 to May 2020 in Harbin, China, involving 116 patients with ischemic stroke. The intervention group participants (n = 58, 50%) received a 12-week home-based care program with components of transitional care measures and the national guidelines for facilitating patients to perform home-based exercises with continued monitoring and gradual progression. Control group participants received standard care including medication advice, rehabilitation exercise and one nurse-initiated follow-up call. Data were collected at baseline and after a 90-day (post-intervention) and a 180-day (post-intervention) follow-up. The primary outcome was quality of life (QOL), measured using the EuroQol-Five Dimension 5-Level scale (EQ-5D-5L). Results both intervention and control groups showed improvement in EQ-5D-5L from baseline to post-intervention (0.66 versus 0.83, P  & lt; 0.001) and (0.66 versus 0.77, P  & lt; 0.001), respectively, and there was significant group-by-time interaction in EuroQol-Visual Analogue Scale from baseline to post-intervention at 90 days and follow-up at 180 days with the intervention group experiencing better improvement. Similarly, significant interaction effects were also found in the Stroke Impact Symptom scale, self-efficacy and modified Barthel Index. Conclusions home-based transitional care was effective in improving QOL, symptoms, self-efficacy and activities of daily living.
    Type of Medium: Online Resource
    ISSN: 0002-0729 , 1468-2834
    Language: English
    Publisher: Oxford University Press (OUP)
    Publication Date: 2022
    detail.hit.zdb_id: 2065766-3
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  • 8
    In: Cerebral Cortex, Oxford University Press (OUP), Vol. 31, No. 3 ( 2021-02-05), p. 1500-1510
    Abstract: Autism spectrum disorder is an early-onset neurodevelopmental condition. This study aimed to investigate the progressive structural alterations in the autistic brain during early childhood. Structural magnetic resonance imaging scans were examined in a cross-sectional sample of 67 autistic children and 63 demographically matched typically developing (TD) children, aged 2–7 years. Voxel-based morphometry and a general linear model were used to ascertain the effects of diagnosis, age, and a diagnosis-by-age interaction on the gray matter volume. Causal structural covariance network analysis was performed to map the interregional influences of brain structural alterations with increasing age. The autism group showed spatially distributed increases in gray matter volume when controlling for age-related effects, compared with TD children. A significant diagnosis-by-age interaction effect was observed in the fusiform face area (FFA, Fpeak = 13.57) and cerebellum/vermis (Fpeak = 12.73). Compared with TD children, the gray matter development of the FFA in autism displayed altered influences on that of the social brain network regions (false discovery rate corrected, P  & lt; 0.05). Our findings indicate the atypical neurodevelopment of the FFA in the autistic brain during early childhood and highlight altered developmental effects of this region on the social brain network.
    Type of Medium: Online Resource
    ISSN: 1047-3211 , 1460-2199
    Language: English
    Publisher: Oxford University Press (OUP)
    Publication Date: 2021
    detail.hit.zdb_id: 1483485-6
    SSG: 12
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  • 9
    In: Stem Cells, Oxford University Press (OUP), Vol. 38, No. 3 ( 2020-03-01), p. 451-463
    Abstract: Recent evidence revealed that lysophosphatidic acid receptor 4 (LPAR4) plays a role in osteogenesis and bone remodeling in mice. However, the molecular mechanism by which LPAR4 controls osteogenic and adipogenic differentiation of mesenchymal progenitor cells remains pending. In the current study, our data showed that Lpar4 was expressed in bone and adipose tissue and the expression increased during osteoblast and adipocyte differentiation. Lpar4 overexpression in stromal ST2 and preosteoblastic MC3T3-E1 cells inhibited osteogenic differentiation. By contrast, Lpar4 overexpression in ST2 and mesenchymal C3H10T1/2 cells enhanced adipogenic differentiation. Conversely, depletion of endogenous Lpar4 in the progenitor cells induced osteogenic differentiation and inhibited adipogenic differentiation. Furthermore, enhanced osteoblast differentiation and alleviated fat accumulation were observed in marrow of mice after in vivo transfection of Lpar4 siRNA. Mechanism investigations revealed that LPAR4 inhibited the activation of ras homolog family member A (RhoA)/Rho-associated kinases 1 (ROCK1) and canonical Wnt signal pathways. ROCK1 was shown to be able to activate Wnt/β-catenin pathway. We further demonstrated that the overexpression of ROCK1 stimulated osteogenic differentiation and restrained adipogenic differentiation from stromal progenitor cells. Moreover, overexpression of ROCK1 attenuated the inhibition of osteogenic differentiation by LPAR4. The current study has provided evidences demonstrating that RhoA/ROCK1 activates β-catenin signaling to promote osteogenic differentiation and conversely restrain adipogenic differentiation. The inactivation of RhoA/ROCK1/β-catenin signaling is involved in LPAR4 regulation of the directional differentiation of marrow stromal progenitor cells.
    Type of Medium: Online Resource
    ISSN: 1066-5099 , 1549-4918
    Language: English
    Publisher: Oxford University Press (OUP)
    Publication Date: 2020
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    detail.hit.zdb_id: 1143556-2
    detail.hit.zdb_id: 605570-9
    SSG: 12
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  • 10
    Online Resource
    Online Resource
    Oxford University Press (OUP) ; 2015
    In:  European Journal of Cardio-Thoracic Surgery
    In: European Journal of Cardio-Thoracic Surgery, Oxford University Press (OUP)
    Type of Medium: Online Resource
    ISSN: 1010-7940 , 1873-734X
    Language: English
    Publisher: Oxford University Press (OUP)
    Publication Date: 2015
    detail.hit.zdb_id: 1500330-9
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