Search Results - "Andresen, S."

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    The association of selected multiple sclerosis symptoms with disability and quality of life: a large Danish self-report survey by Gustavsen, S, Olsson, A, Sandergaard, H. B, Andresen, S. R, Sarensen, P. S, Sellebjerg, F, Oturai, A

    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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    Pseudoexon activation in disease by non‐splice site deep intronic sequence variation — wild type pseudoexons constitute high‐risk sites in the human genome by Petersen, Ulrika S. S., Doktor, Thomas K., Andresen, Brage S.

    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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    Pain, spasticity and quality of life in individuals with traumatic spinal cord injury in Denmark by Andresen, S R, Biering-Sørensen, F, Hagen, E M, Nielsen, J F, Bach, F W, Finnerup, N B

    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 by Holm, Lise L, Doktor, Thomas K, Flugt, Katharina K, Petersen, Ulrika S S, Petersen, Rikke, Andresen, Brage S

    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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    Group 2i Isochrysidales thrive in marine and lacustrine systems with ice cover by Wang, Karen J., Huang, Yongsong, Kartzinel, Tyler, Majaneva, Markus, Richter, Nora, Liao, Sian, Andresen, Camilla S., Vermassen, Flor

    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 by Heide‐Jørgensen, Mads Peter, Chambault, Philippine, Jansen, Teunis, Gjelstrup, Caroline V. B., Rosing‐Asvid, Aqqalu, Macrander, Andreas, Víkingsson, Gísli, Zhang, Xiangdong, Andresen, Camilla S., MacKenzie, Brian R.

    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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    Intronic PAH gene mutations cause a splicing defect by a novel mechanism involving U1snRNP binding downstream of the 5' splice site by Martínez-Pizarro, Ainhoa, Dembic, Maja, Pérez, Belén, Andresen, Brage S, Desviat, Lourdes R

    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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    Sediment discharge from Greenland’s marine-terminating glaciers is linked with surface melt by Andresen, Camilla S., Karlsson, Nanna B., Straneo, Fiammetta, Schmidt, Sabine, Andersen, Thorbjørn J., Eidam, Emily F., Bjørk, Anders A., Dartiguemalle, Nicolas, Dyke, Laurence M., Vermassen, Flor, Gundel, Ida E.

    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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    An aerial view of 80 years of climate-related glacier fluctuations in southeast Greenland by Bjørk, Anders A., Kjær, Kurt H., Korsgaard, Niels J., Khan, Shfaqat A., Kjeldsen, Kristian K., Andresen, Camilla S., Box, Jason E., Larsen, Nicolaj K., Funder, Svend

    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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    Global identification of hnRNP A1 binding sites for SSO-based splicing modulation by Bruun, Gitte H, Doktor, Thomas K, Borch-Jensen, Jonas, Masuda, Akio, Krainer, Adrian R, Ohno, Kinji, Andresen, Brage S

    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 by Evans, Maureen, Andresen, Brage S., Nation, Judy, Boneh, Avihu

    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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    Surgical Management of Acute Facial Palsy by Sun, Daniel Q., MD, Andresen, Nicholas S., MD, Gantz, Bruce J., MD

    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 by Bjørk, A. A., Aagaard, S., Lütt, A., Khan, S. A., Box, J. E., Kjeldsen, K. K., Larsen, N. K., Korsgaard, N. J., Cappelen, J., Colgan, W. T., Machguth, H., Andresen, C. S., Peings, Y., Kjær, K. H.

    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 by Song, Christopher I., Pogson, Jacob M., Andresen, Nicholas S., Ward, Bryan K.

    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 by Andresen, Nicholas S, Coreas, Sarah, Villavisanis, Dillan F, Lauer, Amanda M

    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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