Publicacións en colaboración con investigadores/as de Johns Hopkins University School of Medicine (11)

2017

  1. NEDD4-family E3 ligase dysfunction due to PKHD1/Pkhd1 defects suggests a mechanistic model for ARPKD pathobiology

    Scientific Reports, Vol. 7, Núm. 1

2014

  1. Intragenic motifs regulate the transcriptional complexity of Pkhd1/PKHD1

    Journal of Molecular Medicine, Vol. 92, Núm. 10, pp. 1045-1056

2012

  1. A missense mutation in PKD1 attenuates the severity of renal disease

    Kidney International, Vol. 81, Núm. 4, pp. 412-417

2010

  1. Pkd1 and Pkd2 are required for normal placental development

    PLoS ONE, Vol. 5, Núm. 9, pp. 1-12

2008

  1. TRPP2 and TRPV4 form a polymodal sensory channel complex

    Journal of Cell Biology, Vol. 182, Núm. 3, pp. 437-447

2007

  1. A critical developmental switch defines the kinetics of kidney cyst formation after loss of Pkd1

    Nature Medicine, Vol. 13, Núm. 12, pp. 1490-1495

  2. Evaluating the clinical utility of a molecular genetic test for polycystic kidney disease

    Molecular Genetics and Metabolism, Vol. 92, Núm. 1-2, pp. 160-167

  3. Genetic interaction studies link autosomal dominant and recessive polycystic kidney disease in a common pathway

    Human Molecular Genetics, Vol. 16, Núm. 16, pp. 1940-1950

  4. Loss of Bardet-Biedl syndrome proteins causes defects in peripheral sensory innervation and function

    Proceedings of the National Academy of Sciences of the United States of America, Vol. 104, Núm. 44, pp. 17524-17529

  5. Polyductin undergoes notch-like processing and regulated release from primary cilia

    Human Molecular Genetics, Vol. 16, Núm. 8, pp. 942-956

2006

  1. Loss of polycystin-1 or polycystin-2 results in dysregulated apolipoprotein expression in murine tissues via alterations in nuclear hormone receptors

    Human Molecular Genetics, Vol. 15, Núm. 1, pp. 11-21