SwePub
Sök i SwePub databas

  Utökad sökning

Träfflista för sökning "WFRF:(Li Man) "

Sökning: WFRF:(Li Man)

  • Resultat 41-50 av 120
Sortera/gruppera träfflistan
   
NumreringReferensOmslagsbildHitta
41.
  • Gorski, Mathias, et al. (författare)
  • 1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function.
  • 2017
  • Ingår i: Scientific Reports. - : Springer Science and Business Media LLC. - 2045-2322. ; 7
  • Tidskriftsartikel (refereegranskat)abstract
    • HapMap imputed genome-wide association studies (GWAS) have revealed >50 loci at which common variants with minor allele frequency >5% are associated with kidney function. GWAS using more complete reference sets for imputation, such as those from The 1000 Genomes project, promise to identify novel loci that have been missed by previous efforts. To investigate the value of such a more complete variant catalog, we conducted a GWAS meta-analysis of kidney function based on the estimated glomerular filtration rate (eGFR) in 110,517 European ancestry participants using 1000 Genomes imputed data. We identified 10 novel loci with p-value < 5 × 10(-8) previously missed by HapMap-based GWAS. Six of these loci (HOXD8, ARL15, PIK3R1, EYA4, ASTN2, and EPB41L3) are tagged by common SNPs unique to the 1000 Genomes reference panel. Using pathway analysis, we identified 39 significant (FDR < 0.05) genes and 127 significantly (FDR < 0.05) enriched gene sets, which were missed by our previous analyses. Among those, the 10 identified novel genes are part of pathways of kidney development, carbohydrate metabolism, cardiac septum development and glucose metabolism. These results highlight the utility of re-imputing from denser reference panels, until whole-genome sequencing becomes feasible in large samples.
  •  
42.
  • Li, Jingyi, et al. (författare)
  • The crest phenotype in domestic chicken is caused by a 197 bp duplication in the intron of HOXC10
  • 2021
  • Ingår i: G3. - : Oxford University Press. - 2160-1836. ; 11:2
  • Tidskriftsartikel (refereegranskat)abstract
    • The Crest mutation in chicken shows incomplete dominance and causes a spectacular phenotype in which the small feathers normally present on the head are replaced by much larger feathers normally present only in dorsal skin. Using whole-genome sequencing, we show that the crest phenotype is caused by a 197 bp duplication of an evolutionarily conserved sequence located in the intron of HOXC10 on chromosome 33. A diagnostic test showed that the duplication was present in all 54 crested chickens representing eight breeds and absent from all 433 non-crested chickens representing 214 populations. The mutation causes ectopic expression of at least five closely linked HOXC genes, including HOXC10, in cranial skin of crested chickens. The result is consistent with the interpretation that the crest feathers are caused by an altered body region identity. The upregulated HOXC gene expression is expanded to skull tissue of Polish chickens showing a large crest often associated with cerebral hernia, but not in Silkie chickens characterized by a small crest, both homozygous for the duplication. Thus, the 197 bp duplication is required for the development of a large crest and susceptibility to cerebral hernia because only crested chicken show this malformation. However, this mutation is not sufficient to cause herniation because this malformation is not present in breeds with a small crest, like Silkie chickens.
  •  
43.
  • Li, J. W., et al. (författare)
  • Magnetocaloric effect in heavy rare-earth elements doped Fe-based bulk metallic glasses with tunable Curie temperature
  • 2014
  • Ingår i: Journal of Applied Physics. - : AIP Publishing. - 0021-8979 .- 1089-7550. ; 116:6, s. Art. no. 063902-
  • Tidskriftsartikel (refereegranskat)abstract
    • The effects of heavy rare earth (RE) additions on the Curie temperature (T-C) and magnetocaloric effect of the Fe-RE-B-Nb (RE-Gd, Dy and Ho) bulk metallic glasses were studied. The type of dopping RE element and its concentration can easily tune T-C in a large temperature range of 120K without significantly decreasing the magnetic entropy change (Delta S-M) and refrigerant capacity (RC) of the alloys. The observed values of Delta S-M and RC of these alloys compare favorably with those of recently reported Fe-based metallic glasses with enhanced RC compared to Gd5Ge1.9Si2Fe0.1. The tunable T-C and large glass-forming ability of these RE doped Fe-based bulk metallic glasses can be used in a wide temperature range with the final required shapes.
  •  
44.
  • Li, Man, et al. (författare)
  • Advances in Tin(II)-Based Perovskite Solar Cells : From Material Physics to Device Performance
  • 2022
  • Ingår i: Small Structures. - : Wiley. - 2688-4062. ; 3:1
  • Forskningsöversikt (refereegranskat)abstract
    • During the past decade, metal halide perovskites are widely studied in the field of optoelectronic materials due to their unique optical and electrical properties. Lead-based halide perovskite solar cells (PSCs), in particular, currently achieve a record efficiency of 25.5%, thus showing strong potential in industrial application. However, toxicity of lead-based perovskite materials possesses great concerns to natural environment and human body. Therefore, the quest for nontoxic and eco-friendly elements to replace lead in perovskites is of great interest. Among all the element choices, tin(II) (Sn2+) is the most promising candidate. As a rising star of lead-free PSCs, Sn-based PSCs have drawn much attention and made promising progress during the past few years. While the rapid oxidation and decomposition of Sn-based perovskites result in poor stability and low efficiency of PSCs. In this review, structural, optoelectronic properties and the critical issues of Sn-based perovskite materials are analyzed. Then, a detailed discussion on the recent methods in solving critical issues of Sn-based perovskite devices, from optimization on materials physics to device performance, is also presented. Finally, remaining challenges and future perspective are given to advance the progression of Sn-based PSCs.
  •  
45.
  • Nie, Man, et al. (författare)
  • The dual role of CD70 in B‐cell lymphomagenesis
  • 2022
  • Ingår i: Clinical and Translational Medicine. - : John Wiley & Sons. - 2001-1326. ; 12:12
  • Tidskriftsartikel (refereegranskat)abstract
    • BackgroundCD70 is a costimulatory molecule that is transiently expressed on a small set of activated lymphocytes and is involved in T-cell-mediated immunity. However, the role of CD70 in B-cell malignancies remains controversial.MethodsWe investigated the clinical relevance of CD70 genetic alterations and its protein expression in two diffuse large B-cell lymphoma (DLBCL) cohorts with different ethnic backgrounds. We also performed transcriptomic analysis to explore the role of CD70 alterations in tumour microenvironment. We further tested the blockade of CD70 in combination with PD-L1 inhibitor in a murine lymphoma model.ResultsWe showed that CD70 genetic aberrations occurred more frequently in the Chinese DLBCL cohort (56/233, 24.0%) than in the Swedish cohort (9/84, 10.8%), especially in those with concomitant hepatitis B virus (HBV) infection. The CD70 genetic changes in DLBCL resulted in a reduction/loss of protein expression and/or CD27 binding, which might impair T cell priming and were independently associated with poor overall survival. Paradoxically, we observed that over-expression of CD70 protein was also associated with a poor treatment response, as well as an advanced disease stage and EBV infection. More exhausted CD8+ T cells were furthermore identified in CD70 high-expression DLBCLs. Finally, in a murine lymphoma model, we demonstrated that blocking the CD70/CD27 and/or PD1/PD-L1 interactions could reduce CD70+ lymphoma growth in vivo, by directly impairing the tumour cell proliferation and rescuing the exhausted T cells.ConclusionsOur findings suggest that CD70 can play a role in either tumour suppression or oncogenesis in DLBCL, likely via distinct immune evasion mechanisms, that is, impairing T cell priming or inducing T cell exhaustion. Characterisation of specific dysfunction of CD70 in DLBCL may thus provide opportunities for the development of novel targeted immuno-therapeutic strategies.
  •  
46.
  • Palmer, Nicholette D, et al. (författare)
  • A genome-wide association search for type 2 diabetes genes in African Americans.
  • 2012
  • Ingår i: PloS one. - San Francisco : Public Library of Science (PLoS). - 1932-6203. ; 7:1, s. e29202-
  • Tidskriftsartikel (refereegranskat)abstract
    • African Americans are disproportionately affected by type 2 diabetes (T2DM) yet few studies have examined T2DM using genome-wide association approaches in this ethnicity. The aim of this study was to identify genes associated with T2DM in the African American population. We performed a Genome Wide Association Study (GWAS) using the Affymetrix 6.0 array in 965 African-American cases with T2DM and end-stage renal disease (T2DM-ESRD) and 1029 population-based controls. The most significant SNPs (n = 550 independent loci) were genotyped in a replication cohort and 122 SNPs (n = 98 independent loci) were further tested through genotyping three additional validation cohorts followed by meta-analysis in all five cohorts totaling 3,132 cases and 3,317 controls. Twelve SNPs had evidence of association in the GWAS (P<0.0071), were directionally consistent in the Replication cohort and were associated with T2DM in subjects without nephropathy (P<0.05). Meta-analysis in all cases and controls revealed a single SNP reaching genome-wide significance (P<2.5×10(-8)). SNP rs7560163 (P = 7.0×10(-9), OR (95% CI) = 0.75 (0.67-0.84)) is located intergenically between RND3 and RBM43. Four additional loci (rs7542900, rs4659485, rs2722769 and rs7107217) were associated with T2DM (P<0.05) and reached more nominal levels of significance (P<2.5×10(-5)) in the overall analysis and may represent novel loci that contribute to T2DM. We have identified novel T2DM-susceptibility variants in the African-American population. Notably, T2DM risk was associated with the major allele and implies an interesting genetic architecture in this population. These results suggest that multiple loci underlie T2DM susceptibility in the African-American population and that these loci are distinct from those identified in other ethnic populations.
  •  
47.
  • Parsa, Afshin, et al. (författare)
  • Common Variants in Mendelian Kidney Disease Genes and Their Association with Renal Function
  • 2013
  • Ingår i: Journal of the American Society of Nephrology. - 1046-6673 .- 1533-3450. ; 24:12, s. 2105-2117
  • Tidskriftsartikel (refereegranskat)abstract
    • Many common genetic variants identified by genome-wide association studies for complex traits map to genes previously linked to rare inherited Mendelian disorders. A systematic analysis of common single-nucleotide polymorphisms (SNPs) in genes responsible for Mendelian diseases with kidney phenotypes has not been performed. We thus developed a comprehensive database of genes for Mendelian kidney conditions and evaluated the association between common genetic variants within these genes and kidney function in the general population. Using the Online Mendelian Inheritance in Man database, we identified 731 unique disease entries related to specific renal search terms and confirmed a kidney phenotype in 218 of these entries, corresponding to mutations in 258 genes. We interrogated common SNPs (minor allele frequency >5%) within these genes for association with the estimated GFR in 74,354 European-ancestry participants from the CKDGen Consortium. However, the top four candidate SNPs (rs6433115 at LRP2, rs1050700 at TSC1, rs249942 at PALB2, and rs9827843 at ROBO2) did not achieve significance in a stage 2 meta-analysis performed in 56,246 additional independent individuals, indicating that these common SNPs are not associated with estimated GFR. The effect of less common or rare variants in these genes on kidney function in the general population and disease-specific cohorts requires further research.
  •  
48.
  • Pattaro, Cristian, et al. (författare)
  • Genome-Wide Association and Functional Follow-Up Reveals New Loci for Kidney Function
  • 2012
  • Ingår i: PLoS Genetics. - : Public Library of Science (PLoS). - 1553-7390 .- 1553-7404. ; 8:3, s. e1002584-
  • Tidskriftsartikel (refereegranskat)abstract
    • Chronic kidney disease (CKD) is an important public health problem with a genetic component. We performed genomewide association studies in up to 130,600 European ancestry participants overall, and stratified for key CKD risk factors. We uncovered 6 new loci in association with estimated glomerular filtration rate (eGFR), the primary clinical measure of CKD, in or near MPPED2, DDX1, SLC47A1, CDK12, CASP9, and INO80. Morpholino knockdown of mpped2 and casp9 in zebrafish embryos revealed podocyte and tubular abnormalities with altered dextran clearance, suggesting a role for these genes in renal function. By providing new insights into genes that regulate renal function, these results could further our understanding of the pathogenesis of CKD.
  •  
49.
  • Song, Dong Yan, et al. (författare)
  • α-Synuclein induces deficiency in clathrin-mediated endocytosis through inhibiting synaptojanin1 expression
  • 2023
  • Ingår i: Journal of Neurochemistry. - 0022-3042. ; 167:3, s. 461-484
  • Tidskriftsartikel (refereegranskat)abstract
    • Parkinson's disease (PD) is an age-related chronic neurological disorder, mainly characterized by the pathological feature of α-synuclein (α-syn) aggregation, with the exact disease pathogenesis unclear. During the onset and progression of PD, synaptic dysfunction, including dysregulation of axonal transport, impaired exocytosis, and endocytosis are identified as crucial events of PD pathogenesis. It has been reported that over-expression of α-syn impairs clathrin-mediated endocytosis (CME) in the synapses. However, the underlying mechanisms still needs to be explored. In this study, we investigated the molecular events underlying the synaptic dysfunction caused by over-expression of wild-type human α-syn and its mutant form, involving series of proteins participating in CME. We found that excessive human α-syn causes impaired fission and uncoating of clathrin-coated vesicles during synaptic vesicle recycling, leading to reduced clustering of synaptic vesicles near the active zone and increased size of plasma membrane and number of endocytic intermediates. Furthermore, over-expressed human α-syn induced changes of CME-associated proteins, among which synaptojanin1 (SYNJ1) showed significant reduction in various brain regions. Over-expression of SYNJ1 in primary hippocampal neurons from α-syn transgenic mice recovered the synaptic vesicle density, clustering and endocytosis. Using fluorescence-conjugated transferrin, we demonstrated that SYNJ1 re-boosted the CME activity by restoring the phosphatidylinositol-4,5-bisphosphate homeostasis. Our data suggested that over-expression of α-syn disrupts synaptic function through interfering with vesicle recycling, which could be alleviated by re-availing of SYNJ1. Our study unrevealed a molecular mechanism of the synaptic dysfunction in PD pathogenesis and provided a potential therapeutic target for treating PD.
  •  
50.
  • Wang, Longxin, et al. (författare)
  • Telomere-to-telomere and haplotype-resolved genome assembly of the Chinese cork oak (Quercus variabilis)
  • 2023
  • Ingår i: Frontiers in Plant Science. - : Frontiers Media S.A.. - 1664-462X. ; 14
  • Tidskriftsartikel (refereegranskat)abstract
    • The Quercus variabilis, a deciduous broadleaved tree species, holds significant ecological and economical value. While a chromosome-level genome for this species has been made available, it remains riddled with unanchored sequences and gaps. In this study, we present a nearly complete comprehensive telomere-to-telomere (T2T) and haplotype-resolved reference genome for Q. variabilis. This was achieved through the integration of ONT ultra-long reads, PacBio HiFi long reads, and Hi-C data. The resultant two haplotype genomes measure 789 Mb and 768 Mb in length, with a contig N50 of 65 Mb and 56 Mb, and were anchored to 12 allelic chromosomes. Within this T2T haplotype-resolved assembly, we predicted 36,830 and 36,370 protein-coding genes, with 95.9% and 96.0% functional annotation for each haplotype genome. The availability of the T2T and haplotype-resolved reference genome lays a solid foundation, not only for illustrating genome structure and functional genomics studies but also to inform and facilitate genetic breeding and improvement of cultivated Quercus species.
  •  
Skapa referenser, mejla, bekava och länka
  • Resultat 41-50 av 120
Typ av publikation
tidskriftsartikel (106)
konferensbidrag (6)
forskningsöversikt (3)
samlingsverk (redaktörskap) (1)
annan publikation (1)
bokkapitel (1)
visa fler...
visa färre...
Typ av innehåll
refereegranskat (118)
övrigt vetenskapligt/konstnärligt (2)
Författare/redaktör
Kim, H. (18)
Yang, H. (18)
Brau, J. E. (17)
Chen, Y. (17)
Oh, S. H. (17)
Li, J. (17)
visa fler...
Seifert, F. (16)
Yamamoto, K. (16)
Zhang, L. (16)
Liu, Y. (15)
Thomas, P. (15)
Klimenko, S. (15)
McCarthy, R. (15)
Smith, J. R. (15)
Mitselmakher, G. (15)
Bose, S. (15)
Colla, A. (15)
Brinkmann, M. (15)
Brisson, V. (15)
Miller, J. (15)
Bartos, I. (15)
Marka, S. (15)
Marka, Z. (15)
Abbott, B. P. (15)
Abbott, R. (15)
Abbott, T. D. (15)
Adams, C. (15)
Affeldt, C. (15)
Ajith, P. (15)
Anderson, S. B. (15)
Anderson, W. G. (15)
Arai, K. (15)
Araya, M. C. (15)
Aston, S. M. (15)
Astone, P. (15)
Aufmuth, P. (15)
Aulbert, C. (15)
Babak, S. (15)
Ballardin, G. (15)
Barker, D. (15)
Barr, B. (15)
Barsotti, L. (15)
Bassiri, R. (15)
Bell, A. S. (15)
Bertolini, A. (15)
Betzwieser, J. (15)
Bilenko, I. A. (15)
Billingsley, G. (15)
Birch, J. (15)
Bitossi, M. (15)
visa färre...
Lärosäte
Lunds universitet (38)
Uppsala universitet (36)
Karolinska Institutet (21)
Stockholms universitet (18)
Umeå universitet (11)
Mittuniversitetet (9)
visa fler...
Kungliga Tekniska Högskolan (8)
Chalmers tekniska högskola (7)
Göteborgs universitet (4)
Luleå tekniska universitet (4)
Linköpings universitet (4)
Sveriges Lantbruksuniversitet (3)
Linnéuniversitetet (2)
Högskolan Dalarna (2)
Högskolan i Halmstad (1)
Högskolan i Gävle (1)
Örebro universitet (1)
Södertörns högskola (1)
Naturhistoriska riksmuseet (1)
visa färre...
Språk
Engelska (120)
Forskningsämne (UKÄ/SCB)
Naturvetenskap (54)
Medicin och hälsovetenskap (42)
Teknik (14)
Samhällsvetenskap (3)
Lantbruksvetenskap (2)

År

Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.

 
pil uppåt Stäng

Kopiera och spara länken för att återkomma till aktuell vy