Publicaciones en colaboración con investigadores/as de Radboud University Nijmegen Medical Centre (16)

2024

  1. Stratified analyses refine association between TLR7 rare variants and severe COVID-19

    Human Genetics and Genomics Advances, Vol. 5, Núm. 4

2023

  1. A TGFβ-ECM-integrin signaling axis drives structural reconfiguration of the bile duct to promote polycystic liver disease

    Science translational medicine, Vol. 15, Núm. 713, pp. eabq5930

2022

  1. Genetics, pathobiology and therapeutic opportunities of polycystic liver disease

    Nature Reviews Gastroenterology and Hepatology, Vol. 19, Núm. 9, pp. 585-604

  2. Targeting NAE1-mediated protein hyper-NEDDylation halts cholangiocarcinogenesis and impacts on tumor-stroma crosstalk in experimental models

    Journal of Hepatology, Vol. 77, Núm. 1, pp. 177-190

2021

  1. Inhibition of NAE-dependent protein hyper-NEDDylation in cystic cholangiocytes halts cystogenesis in experimental models of polycystic liver disease

    United European Gastroenterology Journal, Vol. 9, Núm. 7, pp. 848-859

  2. Targeting UBC9-mediated protein hyper-SUMOylation in cystic cholangiocytes halts polycystic liver disease in experimental models

    Journal of Hepatology, Vol. 74, Núm. 2, pp. 394-406

2020

  1. Novel GANAB variants associated with polycystic liver disease

    Orphanet Journal of Rare Diseases, Vol. 15, Núm. 1

  2. Proteostasis disturbances and endoplasmic reticulum stress contribute to polycystic liver disease: New therapeutic targets

    Liver International, Vol. 40, Núm. 7, pp. 1670-1685

2019

  1. Severity in polycystic liver disease is associated with aetiology and female gender: Results of the International PLD Registry

    Liver International, Vol. 39, Núm. 3, pp. 575-582

2018

  1. Clinical management of polycystic liver disease

    Journal of Hepatology, Vol. 68, Núm. 4, pp. 827-837

  2. MicroRNAs and extracellular vesicles in cholangiopathies

    Biochimica et Biophysica Acta - Molecular Basis of Disease, Vol. 1864, Núm. 4, pp. 1293-1307

2017

  1. Fibrocystic Diseases of the Liver

    Zakim and Boyer's Hepatology: A Textbook of Liver Disease (Elsevier), pp. 995-1014

  2. New Advances in Polycystic Liver Diseases

    Seminars in Liver Disease

2016

  1. Ursodeoxycholic acid in advanced polycystic liver disease: A phase 2 multicenter randomized controlled trial

    Journal of Hepatology, Vol. 65, Núm. 3, pp. 601-607

2015

  1. Ursodeoxycholic acid inhibits hepatic cystogenesis in experimental models of polycystic liver disease

    Journal of Hepatology, Vol. 63, Núm. 4, pp. 952-961

2004

  1. Heterogeneity of structural abnormalities in the 7q31.3∼q34 region in myeloid malignancies

    Cancer Genetics and Cytogenetics