Search Results - "Andresen, S."
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1
Spatial and temporal distribution of mass loss from the Greenland Ice Sheet since AD 1900
Published in Nature (London) (17-12-2015)“…Aerial imagery from the 1980s is used to calculate ice mass loss around the entire Greenland Ice Sheet from 1900 to the present; during the twentieth century…”
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2
The association of selected multiple sclerosis symptoms with disability and quality of life: a large Danish self-report survey
Published in BMC neurology (16-08-2021)“…Abstract Background People with multiple sclerosis (MS) experience a wide range of unpredictable and variable symptoms. The symptomatology of MS has previously…”
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3
Pseudoexon activation in disease by non‐splice site deep intronic sequence variation — wild type pseudoexons constitute high‐risk sites in the human genome
Published in Human mutation (01-02-2022)“…Accuracy of pre‐messenger RNA (pre‐mRNA) splicing is crucial for normal gene expression. Complex regulation supports the spliceosomal distinction between…”
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4
Splicing factor 1 modulates dietary restriction and TORC1 pathway longevity in C. elegans
Published in Nature (London) (05-01-2017)“…Precursor mRNA splicing homeostasis is a biomarker and predictor of life expectancy in Caenorhabditis elegans and defects in global pre-mRNA splicing…”
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Study protocol for RUFUS-A randomized mixed methods pilot clinical trial investigating the relevance and feasibility of rumination-focused cognitive behavioral therapy in the treatment of patients with emergent psychosis spectrum disorders
Published in PloS one (25-01-2024)“…Psychosis spectrum disorders are characterized by both positive and negative symptoms, but whereas there is good effect of treatment on positive symptoms,…”
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Pain, spasticity and quality of life in individuals with traumatic spinal cord injury in Denmark
Published in Spinal cord (01-11-2016)“…Study design: Cross-sectional survey. Objectives: To estimate the prevalence, predictors and impact of self-reported pain and spasticity and examine variables…”
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All exons are not created equal-exon vulnerability determines the effect of exonic mutations on splicing
Published in Nucleic acids research (08-05-2024)“…It is now widely accepted that aberrant splicing of constitutive exons is often caused by mutations affecting cis-acting splicing regulatory elements (SREs),…”
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8
Group 2i Isochrysidales thrive in marine and lacustrine systems with ice cover
Published in Scientific reports (20-05-2024)“…Global warming is causing rapid changes to the cryosphere. Predicting the future trajectory of the cryosphere requires quantitative reconstruction of its past…”
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A regime shift in the Southeast Greenland marine ecosystem
Published in Global change biology (01-02-2023)“…Two major oceanographic changes have recently propagated through several trophic levels in coastal areas of Southeast Greenland (SEG). Firstly, the amount of…”
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10
Intronic PAH gene mutations cause a splicing defect by a novel mechanism involving U1snRNP binding downstream of the 5' splice site
Published in PLoS genetics (23-04-2018)“…Phenylketonuria (PKU), one of the most common inherited diseases of amino acid metabolism, is caused by mutations in the phenylalanine hydroxylase (PAH) gene…”
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11
Sediment discharge from Greenland’s marine-terminating glaciers is linked with surface melt
Published in Nature communications (13-02-2024)“…Sediment discharged from the Greenland Ice Sheet delivers nutrients to marine ecosystems around Greenland and shapes seafloor habitats. Current estimates of…”
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Navigating the Anthropocene: Improving Earth System Governance
Published in Science (American Association for the Advancement of Science) (16-03-2012)“…The United Nations conference in Rio de Janeiro in June is an important opportunity to improve the institutional framework for sustainable development. Science…”
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13
An aerial view of 80 years of climate-related glacier fluctuations in southeast Greenland
Published in Nature geoscience (01-06-2012)“…Widespread retreat of glaciers has been observed along the southeastern margin of Greenland. This retreat has been associated with increased air and ocean…”
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14
Global identification of hnRNP A1 binding sites for SSO-based splicing modulation
Published in BMC biology (05-07-2016)“…Many pathogenic genetic variants have been shown to disrupt mRNA splicing. Besides splice mutations in the well-conserved splice sites, mutations in splicing…”
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VLCAD deficiency: Follow-up and outcome of patients diagnosed through newborn screening in Victoria
Published in Molecular genetics and metabolism (01-08-2016)“…Very long chain acyl-CoA dehydrogenase (VLCAD) deficiency is an inherited metabolic disorder of fatty acid oxidation. Treatment practices of the disorder have…”
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ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency
Published in Brain (London, England : 1878) (01-08-2007)“…Multiple acyl-CoA dehydrogenation deficiency (MADD) is a disorder of fatty acid, amino acid and choline metabolism that can result from defects in two…”
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Surgical Management of Acute Facial Palsy
Published in Otolaryngologic clinics of North America (01-12-2018)“…Bell palsy and traumatic facial nerve injury are two common causes of acute facial palsy. Most patients with Bell palsy recover favorably with medical therapy…”
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Changes in Greenland’s peripheral glaciers linked to the North Atlantic Oscillation
Published in Nature climate change (01-01-2018)“…Glaciers and ice caps peripheral to the main Greenland Ice Sheet contribute markedly to sea-level rise 1 – 3 . Their changes and variability, however, have…”
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MRI With Gadolinium as a Measure of Blood-Labyrinth Barrier Integrity in Patients With Inner Ear Symptoms: A Scoping Review
Published in Frontiers in neurology (20-05-2021)“…Objective: Capillaries within the inner ear form a semi-permeable barrier called the blood-labyrinth barrier that is less permeable than capillary barriers…”
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Comparison of Age-Related Pigmentary Changes in the Auditory and Vestibular Systems Within Mouse and Human Temporal Bones
Published in Frontiers in neuroscience (14-05-2021)“…Melanin pigmentation is present within the auditory and vestibular systems of the mammalian inner ear and may play a role in maintaining auditory and…”
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