CRIS

Permanent URI for this communityhttps://investigadores.udd.cl/handle/123456789/1

Browse

Settings

Subject: search.filters.subject.genetic

Search Results

Now showing 1 - 3 of 3
  • Loading...
    Thumbnail Image
    Some of the metrics are blocked by your 
    consent settings
    Item type:Publication,
    Connexin46 in the nucleus of cancer cells: a possible role as transcription modulator
    (Springer Science and Business Media LLC, 2025-03-27)
    Ainoa Fernández-Olivares
    ;
    Viviana P Orellana
    ;
    Jesús Llanquinao
    ;
    NUÑEZ VASQUEZ, GONZALO ESTEBAN  
    ;
    Pablo Pérez-Moreno
    Scopus© Citations 1  10
  • Loading...
    Thumbnail Image
    Some of the metrics are blocked by your 
    consent settings
    Item type:Publication,
    Genetic and epigenetic landscape of early-onset oral squamous cell carcinoma: Insights of genomic underserved and underrepresented populations
    (2024)
    Daniela Adorno-Farias
    ;
    Sebastián Morales-Pisón
    ;
    Guilherme Gischkow-Rucatti
    ;
    Sonia Margarit
    ;
    Ricardo Fernández-Ramires
    Scopus© Citations 8  1
  • Loading...
    Thumbnail Image
    Some of the metrics are blocked by your 
    consent settings
    Item type:Publication,
    The 2021 European Alliance of Associations for Rheumatology/American College of Rheumatology points to consider for diagnosis and management of autoinflammatory type I interferonopathies: CANDLE/PRAAS, SAVI and AGS
    (2022)
    Kader Cetin Gedik
    ;
    Lovro Lamot
    ;
    Micol Romano
    ;
    Erkan Demirkaya
    ;
    David Piskin
    <jats:sec><jats:title>Objective</jats:title><jats:p>Autoinflammatory type I interferonopathies, chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature/proteasome-associated autoinflammatory syndrome (CANDLE/PRAAS), stimulator of interferon genes (STING)-associated vasculopathy with onset in infancy (SAVI) and Aicardi-Goutières syndrome (AGS) are rare and clinically complex immunodysregulatory diseases. With emerging knowledge of genetic causes and targeted treatments, a Task Force was charged with the development of ‘points to consider’ to improve diagnosis, treatment and long-term monitoring of patients with these rare diseases.</jats:p></jats:sec><jats:sec><jats:title>Methods</jats:title><jats:p>Members of a Task Force consisting of rheumatologists, neurologists, an immunologist, geneticists, patient advocates and an allied healthcare professional formulated research questions for a systematic literature review. Then, based on literature, Delphi questionnaires and consensus methodology, ‘points to consider’ to guide patient management were developed.</jats:p></jats:sec><jats:sec><jats:title>Results</jats:title><jats:p>The Task Force devised consensus and evidence-based guidance of 4 overarching principles and 17 points to consider regarding the diagnosis, treatment and long-term monitoring of patients with the autoinflammatory interferonopathies, CANDLE/PRAAS, SAVI and AGS.</jats:p></jats:sec><jats:sec><jats:title>Conclusion</jats:title><jats:p>These points to consider represent state-of-the-art knowledge to guide diagnostic evaluation, treatment and management of patients with CANDLE/PRAAS, SAVI and AGS and aim to standardise and improve care, quality of life and disease outcomes.</jats:p></jats:sec>
    Scopus© Citations 30  1