Search Results - "MELIS, A"
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Capitalizing on the heterogeneous effects of CFTR nonsense and frameshift variants to inform therapeutic strategy for cystic fibrosis
Published in PLoS genetics (16-11-2018)“…CFTR modulators have revolutionized the treatment of individuals with cystic fibrosis (CF) by improving the function of existing protein. Unfortunately, almost…”
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2
LFV and (g-2) in non-universal SUSY models with light higgsinos
Published in The journal of high energy physics (01-05-2020)“…A bstract We consider a supersymmetric type-I seesaw framework with non-universal scalar masses at the GUT scale to explain the long-standing discrepancy of…”
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3
Anomaly-free ALP from non-Abelian flavor symmetry
Published in The journal of high energy physics (31-08-2022)“…A bstract Motivated by the XENON1T excess in electron-recoil measurements, we investigate the prospects of probing axion-like particles (ALP) in lepton flavor…”
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4
Hydrogeochemical fingerprints of a mixohaline wetland in the Mediterranean: Güllük coastal wetland systems- GCWS (Muğla, Turkey)
Published in Turkish journal of earth sciences (01-01-2021)Get full text
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5
Silencing XIST on the future active X: Searching human and bovine preimplantation embryos for the repressor
Published in European journal of human genetics : EJHG (01-04-2024)“…X inactivation is the means of equalizing the dosage of X chromosomal genes in male and female eutherian mammals, so that only one X is active in each cell…”
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6
Increased expression of anion transporter SLC26A9 delays diabetes onset in cystic fibrosis
Published in The Journal of clinical investigation (01-01-2020)“…Diabetes is a common complication of cystic fibrosis (CF) that affects approximately 20% of adolescents and 40%-50% of adults with CF. The age at onset of…”
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7
Evaluation of both exonic and intronic variants for effects on RNA splicing allows for accurate assessment of the effectiveness of precision therapies
Published in PLoS genetics (21-10-2020)“…Elucidating the functional consequence of molecular defects underlying genetic diseases enables appropriate design of therapeutic options. Treatment of cystic…”
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8
Hydrogen Production. Green Algae as a Source of Energy
Published in Plant physiology (Bethesda) (01-11-2001)“…Hydrogen gas is thought to be the ideal fuel for a world in which air pollution has been alleviated, global warming has been arrested, and the environment has…”
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9
Modelling annual scintillation arc variations in PSR J1643−1224 using the Large European Array for Pulsars
Published in Monthly notices of the Royal Astronomical Society (04-02-2022)“…ABSTRACT In this work, we study variations in the parabolic scintillation arcs of the binary millisecond pulsar PSR J1643−1224 over five years using the Large…”
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10
Spectropolarimetric observations of the CIZA J2242.8+5301 northern radio relic: no evidence of high-frequency steepening
Published in Monthly notices of the Royal Astronomical Society (01-10-2020)“…ABSTRACT Observations of radio relics at very high frequency (>10 GHz) can help to understand how particles age and are (re-)accelerated in galaxy cluster…”
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11
Genetic Modifiers of Cystic Fibrosis-Related Diabetes Have Extensive Overlap With Type 2 Diabetes and Related Traits
Published in The journal of clinical endocrinology and metabolism (01-05-2020)“…Abstract Context Individuals with cystic fibrosis (CF) develop a distinct form of diabetes characterized by β-cell dysfunction and islet amyloid accumulation…”
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12
Observations of a nearby filament of galaxy clusters with the Sardinia Radio Telescope
Published in Monthly notices of the Royal Astronomical Society (01-09-2018)“…We report the detection of diffuse radio emission which might be connected to a large-scale filament of the cosmic web covering a 8° × 8° area in the sky,…”
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13
Variable scintillation arcs of millisecond pulsars observed with the Large European Array for Pulsars
Published in Monthly notices of the Royal Astronomical Society (09-08-2023)“…ABSTRACT We present the first large sample of scintillation arcs in millisecond pulsars (MSPs), analysing 12 sources observed with the Large European Array for…”
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14
Assessment of the Salinization Process at the Coastal Area with Hydrogeochemical Tools and Geographical Information Systems (GIS): Selçuk Plain, Izmir, Turkey
Published in Water, air, and soil pollution (01-07-2009)“…The salinization process was investigated with hydrogeochemical tools to evaluate the origin of salinity in the Selçuk Plain. Na/Cl and Cl/Br molar ratios of…”
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15
Sardinia Radio Telescope wide-band spectral-polarimetric observations of the galaxy cluster 3C 129
Published in Monthly notices of the Royal Astronomical Society (01-10-2016)“…We present new observations of the galaxy cluster 3C 129 obtained with the Sardinia Radio Telescope in the frequency range 6000–7200 MHz, with the aim to image…”
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16
Caregivers in home palliative care: gender, psychological aspects, and patient’s functional status as main predictors for their quality of life
Published in Supportive care in cancer (01-07-2020)“…Purpose This study aims to investigate the impact of possible predictors of quality of life (QoL) in a group of Italian caregivers assisting a cancer patient…”
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17
Genetic variation in severe cystic fibrosis liver disease is associated with novel mechanisms for disease pathogenesis
Published in Hepatology (Baltimore, Md.) (01-11-2024)“…It is not known why severe cystic fibrosis (CF) liver disease (CFLD) with portal hypertension occurs in only ~7% of people with CF. We aimed to identify…”
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18
Improved biomechanical metrics of cerebral vasospasm identified via sensitivity analysis of a 1D cerebral circulation model
Published in Journal of biomechanics (11-06-2019)“…Cerebral vasospasm (CVS) is a life-threatening condition that occurs in a large proportion of those affected by subarachnoid haemorrhage and stroke. CVS…”
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19
Complete CFTR gene sequencing in 5,058 individuals with cystic fibrosis informs variant-specific treatment
Published in Journal of cystic fibrosis (01-05-2022)“…•Full-gene CFTR sequencing identifies CF-causing genotypes in almost all individuals with CF.•Full-gene sequencing can identify gene rearrangements that are…”
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20
Investigating the high-frequency spectral features of SNRs Tycho, W44, and IC443 with the Sardinia Radio Telescope
Published in Monthly notices of the Royal Astronomical Society (21-01-2019)Get full text
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