| 1. |
- Fatima, Iza, et al.
(författare)
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Individual and synergistic effects of different fertilizers and gibberellin on growth and morphology of chili seedlings
- 2024
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Ingår i: Ecological Frontiers. - 1872-2032. ; 44:2, s. 275-281
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Tidskriftsartikel (refereegranskat)abstract
- Gibberellins (GA3), as well as the basic elements phosphorus (P), nitrogen (N), and potassium (K), are crucial to the growth of chili. This study investigates the effect of different fertilizers and plant growth regulator on the growth and morphology of chili seedlings. Soil application of NPK, urea, SOP, and DAP (2.5 g/L) was applied during sowing, and N in two splits at sowing and after twenty days of sowing while foliar application of GA3 (50 mg/L) was applied after fifteen days of germination. The result of five seedlings' traits plant height (PH), plant girth (PG), plant spread (PS), number of leaves (NOF), and root length (RL) demonstrated a significant difference among growth-related traits in chili seedlings owing to the use of fertilizers, GA3, and their combinations. An optimum level of K and P alone or in combination with GA3 had a significant effect on all traits. PH was particularly influenced by the combination of GA3 with K and P whereas other traits like PG, NOF, PS, and RL are greatly influenced by the application of NPK, urea, SOP, DAP, and their combination with GA3. The study results showed an increase in chili seedlings' growth and morphology in response to various fertilizers and GA3.
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| 2. |
- Akram, Talia, et al.
(författare)
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Aberrant splicing due to a novel RPS7 variant causes Diamond-Blackfan Anemia associated with spontaneous remission and meningocele
- 2020
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Ingår i: International Journal of Hematology. - : Springer Science and Business Media LLC. - 0925-5710 .- 1865-3774. ; 112:6, s. 894-899
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Tidskriftsartikel (refereegranskat)abstract
- Diamond-Blackfan Anemia (DBA) is a congenital pure red cell aplasia caused by heterozygous variants in ribosomal protein genes. The hematological features associated with DBA are highly variable and non-hematological abnormalities are common. We report herein on an affected mother and her daughter presenting with transfusion-dependent anemia. The mother showed mild physical abnormalities and entered spontaneous remission at age 13 years. Her daughter was born with occipital meningocele. Exome sequencing of DNA from the mother revealed a heterozygous novel splice site variant (NM_001011.4:c.508-3T > G) in the Ribosomal Protein S7 gene (RPS7) inherited by the daughter. Functional analysis of the RPS7 variant expressed from a mini-gene construct revealed that the exon 7 acceptor splice site was replaced by a cryptic splice resulting in a transcript missing 64 bp of exon 7 (p.Val170Serfs*8). Our study confirms a pathogenic effect of a novel RPS7 variant in DBA associated with spontaneous remission in the mother and meningocele in her daughter, thus adding to the genotype-phenotype correlations in DBA.
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| 3. |
- Ali, Zafar, et al.
(författare)
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Novel SACS mutations associated with intellectual disability, epilepsy and widespread supratentorial abnormalities
- 2016
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Ingår i: Journal of the Neurological Sciences. - : Elsevier BV. - 0022-510X .- 1878-5883. ; 371, s. 105-111
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Tidskriftsartikel (refereegranskat)abstract
- We describe eight subjects from two consanguineous families segregating with autosomal recessive childhood onset spastic ataxia, peripheral neuropathy and intellectual disability. The degree of intellectual disability varied from mild to severe and all four affected individuals in one family developed aggressive behavior and epilepsy. Using exome sequencing, we identified two novel truncating mutations (c.2656C>T (p.Gln886*)) and (c.4756_4760delAATCA (p.Asn1586Tyrfs*3)) in the SACS gene responsible for autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). MRI revealed typical cerebellar and pontine changes associated with ARSACS as well as multiple supratentorial changes in both families as likely contributing factors to the cognitive symptoms. Intellectual disability and behavioral abnormalities have been reported in some cases of ARSACS but are not a part of the characteristic triad of symptoms that includes cerebellar ataxia, spasticity and peripheral neuropathy. Our combined findings bring further knowledge to the phenotypic spectrum, neurodegenerative changes and genetic variability associated with the SACS gene of clinical and diagnostic importance.
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| 4. |
- Cheema, Huzaifa Ahmad, et al.
(författare)
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Vitamin D supplementation for the prevention of total cancer incidence and mortality : An updated systematic review and meta-analysis
- 2022
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Ingår i: Heliyon. - : Elsevier BV. - 2405-8440. ; 8:11
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Tidskriftsartikel (refereegranskat)abstract
- IntroductionPrevious randomized controlled trials (RCTs) and meta-analyses of RCTs evaluating vitamin D supplementation for the prevention of cancer incidence and mortality have found inconsistent results and no meta-analysis has assessed the quality of the evidence available. We, therefore, aimed to perform an updated meta-analysis by including recent large-scale RCTs and assessing the quality of the pooled evidence.MethodsWe searched several databases and trial registers from inception to April 2022. We used a random-effects model to estimate pooled risk ratios (RRs) and 95% confidence intervals (CIs). We used the Grades of Recommendation, Assessment, Development, and Evaluation (GRADE) considerations to evaluate the certainty of evidence.ResultsWe included 13 RCTs in our study. Vitamin D supplementation had no effect on the risk of total cancer incidence (RR 0.99, 95% CI: 0.94–1.04; I2 = 0%), total cancer mortality (RR 0.93, 95% CI: 0.84–1.03; I2 = 24%) and total mortality (RR 0.92, 95% CI: 0.82–1.04; I2 = 36%). The overall quality of evidence was high for all outcomes.DiscussionVitamin D supplementation is ineffective in reducing total cancer incidence and mortality in largely vitamin D-replete older adult populations. Future research should be based on populations with a higher prevalence of vitamin D deficiency and should involve more extended follow-up periods.
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| 5. |
- Fatima, Ambrin, et al.
(författare)
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Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy
- 2021
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Ingår i: American Journal of Human Genetics. - : Cell Press. - 0002-9297 .- 1537-6605. ; 108:4, s. 739-748
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Tidskriftsartikel (refereegranskat)abstract
- Neurochondrin (NCDN) is a cytoplasmatic neural protein of importance for neural growth, glutamate receptor (mGluR) signaling, and synaptic plasticity. Conditional loss of Ncdn in mice neural tissue causes depressive-like behaviors, impaired spatial learning, and epileptic seizures. We report on NCDN missense variants in six affected individuals with variable degrees of developmental delay, intellectual disability (ID), and seizures. Three siblings were found homozygous for a NCDN missense variant, whereas another three unrelated individuals carried different de novo missense variants in NCDN. We assayed the missense variants for their capability to rescue impaired neurite formation in human neuroblastoma (SH-SY5Y) cells depleted of NCDN. Overexpression of wild-type NCDN rescued the neurite-phenotype in contrast to expression of NCDN containing the variants of affected individuals. Two missense variants, associated with severe neurodevelopmental features and epilepsy, were unable to restore mGluR5-induced ERK phosphorylation. Electrophysiological analysis of SH-SY5Y cells depleted of NCDN exhibited altered membrane potential and impaired action potentials at repolarization, suggesting NCDN to be required for normal biophysical properties. Using available transcriptome data from human fetal cortex, we show that NCDN is highly expressed in maturing excitatory neurons. In combination, our data provide evidence that bi-allelic and de novo variants in NCDN cause a clinically variable form of neurodevelopmental delay and epilepsy, highlighting a critical role for NCDN in human brain development.
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| 6. |
- Kanoni, Stavroula, et al.
(författare)
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Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis.
- 2022
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Ingår i: Genome biology. - : Springer Science and Business Media LLC. - 1474-760X .- 1465-6906 .- 1474-7596. ; 23:1
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Tidskriftsartikel (refereegranskat)abstract
- Genetic variants within nearly 1000 loci are known to contribute to modulation of blood lipid levels. However, the biological pathways underlying these associations are frequently unknown, limiting understanding of these findings and hindering downstream translational efforts such as drug target discovery.To expand our understanding of the underlying biological pathways and mechanisms controlling blood lipid levels, we leverage a large multi-ancestry meta-analysis (N=1,654,960) of blood lipids to prioritize putative causal genes for 2286 lipid associations using six gene prediction approaches. Using phenome-wide association (PheWAS) scans, we identify relationships of genetically predicted lipid levels to other diseases and conditions. We confirm known pleiotropic associations with cardiovascular phenotypes and determine novel associations, notably with cholelithiasis risk. We perform sex-stratified GWAS meta-analysis of lipid levels and show that 3-5% of autosomal lipid-associated loci demonstrate sex-biased effects. Finally, we report 21 novel lipid loci identified on the X chromosome. Many of the sex-biased autosomal and X chromosome lipid loci show pleiotropic associations with sex hormones, emphasizing the role of hormone regulation in lipid metabolism.Taken together, our findings provide insights into the biological mechanisms through which associated variants lead to altered lipid levels and potentially cardiovascular disease risk.
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| 7. |
- Khan, Umar Hasan, et al.
(författare)
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Localization of Compact Circularly Polarized RFID Tag Using ToA Technique
- 2017
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Ingår i: Radioengineering. - : SPOLECNOST PRO RADIOELEKTRONICKE INZENYRSTVI. - 1210-2512 .- 1805-9600. ; 26:1, s. 147-153
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Tidskriftsartikel (refereegranskat)abstract
- A compact, flexible crossed-dipole circularly polarized antenna using commercially available paper substrate is presented which caters North American frequency band. The crossed-dipoles have meandered lines for reduction of size as well as increased inductivity in the antenna. Dipoles have asymmetric T-shaped rectangular endings to provide the required compactness. Two semicircles are induced between the orthogonal dipoles and meandering matching structure to accomplish circular polarization excitation. Good impedance matching with the chip is achieved through a modified meander line matching structure. The proposed design dimensions are 32 x 32 x 0.4 mm(3). Systematic analysis revealed the results comprising circular polarization 3dB-AR bandwidth of 12 MHz (908-920 MHz) and power transmission coefficient bandwidth of 36 MHz (900-936 MHz). Time delay between interrogating signal and backscattered signal is measured and relative distance is calculated. Linear Least Square (LLS) method is applied to approximate the position of tag in interrogation area. The proposed tag is placed at known locations and its position is measured to analyze accuracy of the method by simulating the positioning algorithm code in MATLAB. Six valid tag positions 0.5-2 m read range and 0 degrees-150 degrees angular resolution has been investigated.
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| 8. |
- Klar, Joakim, 1974-, et al.
(författare)
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Altered paracellular cation permeability due to a rare CLDN10B variant causes anhidrosis and kidney damage
- 2017
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Ingår i: PLOS Genetics. - : Public Library of Science (PLoS). - 1553-7390 .- 1553-7404. ; 13:7
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Tidskriftsartikel (refereegranskat)abstract
- Claudins constitute the major component of tight junctions and regulate paracellular permeability of epithelia. Claudin-10 occurs in two major isoforms that form paracellular channels with ion selectivity. We report on two families segregating an autosomal recessive disorder characterized by generalized anhidrosis, severe heat intolerance and mild kidney failure. All affected individuals carry a rare homozygous missense mutation c.144C>G, p.(N48K) specific for the claudin-10b isoform. Immunostaining of sweat glands from patients suggested that the disease is associated with reduced levels of claudin-10b in the plasma membranes and in canaliculi of the secretory portion. Expression of claudin-10b N48K in a 3D cell model of sweat secretion indicated perturbed paracellular Na+ transport. Analysis of paracellular permeability revealed that claudin-10b N48K maintained cation over anion selectivity but with a reduced general ion conductance. Furthermore, freeze fracture electron microscopy showed that claudin-10b N48K was associated with impaired tight junction strand formation and altered cis-oligomer formation. These data suggest that claudin-10b N48K causes anhidrosis and our findings are consistent with a combined effect from perturbed TJ function and increased degradation of claudin-10b N48K in the sweat glands. Furthermore, affected individuals present with Mg2+ retention, secondary hyperparathyroidism and mild kidney failure that suggest a disturbed reabsorption of cations in the kidneys. These renal-derived features recapitulate several phenotypic aspects detected in mice with kidney specific loss of both claudin-10 isoforms. Our study adds to the spectrum of phenotypes caused by tight junction proteins and demonstrates a pivotal role for claudin-10b in maintaining paracellular Na+ permeability for sweat production and kidney function.
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| 9. |
- Masood, Asad, et al.
(författare)
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Atmospheric Pressure Plasma Polymerization of Carvone: A Promising Approach for Antimicrobial Coatings
- 2023
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Ingår i: Coatings. - : Mdpi. - 2079-6412. ; 13:6
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Tidskriftsartikel (refereegranskat)abstract
- Medical devices are often vulnerable to colonization by nosocomial pathogens (bacteria), leading to infections. Traditional sterilization methods may not always be effective, and as a result, alternative options are being explored to prevent microbial contamination. Recently, scientists are emphasizing using plant-derived essential oils that possess inherent antibacterial properties to produce antimicrobial coatings using plasma polymerization technology carried out at atmospheric pressure (AP). This approach shows promise compared to other coating strategies that need several processing steps, including a high-vacuum system, and are laborious, such as the immobilization of antimicrobial materials on precoated layers in the low-pressure plasma polymerization approach. The present study demonstrates the potential of AP plasma polymerization for producing thin films with excellent antibacterial properties and surface characteristics. The resulting coatings are stable, smooth, and have high wettability, making them ideal for repelling bacteria. The calculated zeta potential and deposition rate for the films are also favorable. These AP plasma-polymerized thin films created from carvone show a reduction rate of more than 90% for Escherichia coli and Staphylococcus aureus bacteria. Our computational docking studies also reveal strong binding interactions between the original carvone monomer and both bacteria. The study suggests that these AP plasma-produced coatings have great potential as antibacterial coatings for biomedical devices.
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| 10. |
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