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Träfflista för sökning "WFRF:(Kumar Satish) ;lar1:(uu)"

Sökning: WFRF:(Kumar Satish) > Uppsala universitet

  • Resultat 1-5 av 5
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1.
  • Flannick, Jason, et al. (författare)
  • Data Descriptor : Sequence data and association statistics from 12,940 type 2 diabetes cases and controls
  • 2017
  • Ingår i: Scientific Data. - : Springer Science and Business Media LLC. - 2052-4463. ; 4
  • Tidskriftsartikel (refereegranskat)abstract
    • To investigate the genetic basis of type 2 diabetes (T2D) to high resolution, the GoT2D and T2D-GENES consortia catalogued variation from whole-genome sequencing of 2,657 European individuals and exome sequencing of 12,940 individuals of multiple ancestries. Over 27M SNPs, indels, and structural variants were identified, including 99% of low-frequency (minor allele frequency [MAF] 0.1-5%) non-coding variants in the whole-genome sequenced individuals and 99.7% of low-frequency coding variants in the whole-exome sequenced individuals. Each variant was tested for association with T2D in the sequenced individuals, and, to increase power, most were tested in larger numbers of individuals (> 80% of low-frequency coding variants in similar to ~82 K Europeans via the exome chip, and similar to ~90% of low-frequency non-coding variants in similar to ~44 K Europeans via genotype imputation). The variants, genotypes, and association statistics from these analyses provide the largest reference to date of human genetic information relevant to T2D, for use in activities such as T2D-focused genotype imputation, functional characterization of variants or genes, and other novel analyses to detect associations between sequence variation and T2D.
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2.
  • Manning, Alisa, et al. (författare)
  • A Low-Frequency Inactivating AKT2 Variant Enriched in the Finnish Population Is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk
  • 2017
  • Ingår i: Diabetes. - : AMER DIABETES ASSOC. - 0012-1797 .- 1939-327X. ; 66:7, s. 2019-2032
  • Tidskriftsartikel (refereegranskat)abstract
    • To identify novel coding association signals and facilitate characterization of mechanisms influencing glycemic traits and type 2 diabetes risk, we analyzed 109,215 variants derived from exome array genotyping together with an additional 390,225 variants from exome sequence in up to 39,339 normoglycemic individuals from five ancestry groups. We identified a novel association between the coding variant (p.Pro50Thr) in AKT2 and fasting plasma insulin (FI), a gene in which rare fully penetrant mutations are causal for monogenic glycemic disorders. The low-frequency allele is associated with a 12% increase in FI levels. This variant is present at 1.1% frequency in Finns but virtually absent in individuals from other ancestries. Carriers of the FI-increasing allele had increased 2-h insulin values, decreased insulin sensitivity, and increased risk of type 2 diabetes (odds ratio 1.05). In cellular studies, the AKT2-Thr50 protein exhibited a partial loss of function. We extend the allelic spectrum for coding variants in AKT2 associated with disorders of glucose homeostasis and demonstrate bidirectional effects of variants within the pleckstrin homology domain of AKT2.
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3.
  • Graham, Lesley A, et al. (författare)
  • Validation of Uromodulin as a Candidate Gene for Human Essential Hypertension
  • 2014
  • Ingår i: Hypertension. - 0194-911X .- 1524-4563. ; 63:3, s. 551-558
  • Tidskriftsartikel (refereegranskat)abstract
    • A recent genome-wide association study identified a locus on chromosome 16 in the promoter region of the uromodulin (UMOD) gene that is associated with hypertension. Here, we examined the hypertension signal with functional studies in Umod knockout (KO) mice. Systolic blood pressure was significantly lower in KO versus wild-type (WT) mice under basal conditions (KO: 116.6±0.3 mm Hg versus WT: 136.2±0.4 mm Hg; P<0.0001). Administration of 2% NaCl did not alter systolic blood pressure in KO mice, whereas it increased in WT mice by ≈33%, P<0.001. The average 24-hour urinary sodium excretion in the KO was greater than that of WT mice (P<0.001). Chronic renal function curves demonstrate a leftward shift in KO mice, suggesting that the relationship between UMOD and blood pressure is affected by sodium. Creatinine clearance was increased during salt loading with 2% NaCl in the KO mice, leading to augmented filtered Na(+) excretion and further Na(+) loss. The difference in sodium uptake that exists between WT and KO strains was explored at the molecular level. Urinary tumor necrosis factor-α levels were significantly higher in KO mice compared with WT mice (P<0.0001). Stimulation of primary thick ascending limb of the loop of Henle cells with exogenous tumor necrosis factor-α caused a reduction in NKCC2A expression (P<0.001) with a concurrent rise in the levels of UMOD mRNA (P<0.001). Collectively, we demonstrate that UMOD regulates sodium uptake in the thick ascending limb of the loop of Henle by modulating the effect of tumor necrosis factor-α on NKCC2A expression, making UMOD an important determinant of blood pressure control.
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4.
  • Kawalkar, Rajat, et al. (författare)
  • A review for advancements in standardization for additive manufacturing
  • 2022
  • Ingår i: Materials today. - : Elsevier. - 2214-7853. ; , s. 1983-1990
  • Konferensbidrag (refereegranskat)abstract
    • The need for standardization is important for all sectors starting from industrial manufacturers to delivering it to the consumers. The acceptance of AM in all aspects of manufacturing is always subjected to a lack of additive manufacturing standards. This issue is always being addressed by an eminent group of researchers, and scientists and organizations over the last three decades for developing the desired qualified standards in additive manufacturing. However, ASTM) and ISO along with different research groups have been working with high integrity to resolve this aspect to a greater extent across all sectors. The current research signifies the adoption of standards between ASTM and ISO for enforcing it globally by law with the inculcation of common AM standards. This work emphasizes recent development carried by such organizations and projects, depending on pathways laid by the conductance of several workshops with a focus on developing new standards in this field.
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5.
  • Kawalkar, Rajat, et al. (författare)
  • Wire arc additive manufacturing : A brief review on advancements in addressing industrial challenges incurred with processing metallic alloys
  • 2022
  • Ingår i: Materials today. - : Elsevier. - 2214-7853. ; , s. 1971-1978
  • Konferensbidrag (refereegranskat)abstract
    • Whenever there is a need for manufacturing products with higher deposition rates (usually more than 10 kg per hour) with different alloys of primary metal materials such as titanium, nickel, aluminum, steel and other superalloys, wire arc additive manufacturing is often considered the best AM (additive manufacturing) technology from the state of art technologies around practice. This practice usually incorporates usage of wire as a feedstock material with standard tools used for arc welding. The perks associated with higher deposition rates of material, low wastage and higher equipment costs combined with structure intactness makes it an irresistible process to override traditional billeting and forging methods ranging from low to medium complex manufacturing products. Large applications can be seen in existence with the help of this technology such as manufacturing assembly line for automobile sectors, wing ribs in aerospace industry, wind tunnels in hydraulic sector. This paper discusses the usual complexities faced with managing residual stress in manufactured product, also with prime focus on improving mechanical properties as compared to traditional methods while eliminating defects such as porosity and distortions are widely discussed in detail. Finally, the prospects of post machining operations carried over product such as non-destructive testing, in-situ process and monitoring are assessed.
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