Publicacións nas que colabora con Brais Bea Mascato (7)

2023

  1. Deciphering the molecular basis of alström syndrome: genotype-phenotype correlations and a multi-omics approach to tgf-β pathway regulation

    Deciphering the molecular basis of alström syndrome: genotype-phenotype correlations and a multi-omics approach to tgf-β pathway regulation

  2. Genotype-phenotype associations in Alström syndrome: A systematic review and meta-analysis

    Journal of Medical Genetics, Vol. 61, Núm. 1, pp. 18-26

  3. Loss of the centrosomal protein ALMS1 alters lipid metabolism and the regulation of extracellular matrix-related processes

    Biology Direct, Vol. 18, Núm. 1

2022

  1. Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome

    npj Genomic Medicine, Vol. 7, Núm. 1

  2. Depletion of ALMS1 affects TGF-β signalling pathway and downstream processes such as cell migration and adhesion capacity

    Frontiers in Molecular Biosciences, Vol. 9

2021

  1. ALMS1 Regulates TGF-β Signaling and Morphology of Primary Cilia

    Frontiers in Cell and Developmental Biology, Vol. 9

  2. Prevalent alms1 pathogenic variants in spanish alström patients

    Genes, Vol. 12, Núm. 2, pp. 1-12