Publicaciones en las que colabora con ANA YOLANDA GUTIERREZ FERNANDEZ (16)

2022

  1. PanCancer analysis of somatic mutations in repetitive regions reveals recurrent mutations in snRNA U2

    npj Genomic Medicine, Vol. 7, Núm. 1

2019

  1. Recurrent noncoding U1 snRNA mutations drive cryptic splicing in SHH medulloblastoma

    Nature, Vol. 574, Núm. 7780, pp. 707-711

  2. The U1 spliceosomal RNA is recurrently mutated in multiple cancers

    Nature, Vol. 574, Núm. 7780, pp. 712-716

2017

  1. A t(1;9) translocation involving CSF3R as a novel mechanism in unclassifiable chronic myeloproliferative neoplasm

    Haematologica

2016

  1. Congenital dilated cardiomyopathy caused by biallelic mutations in Filamin C

    European Journal of Human Genetics, Vol. 24, Núm. 12, pp. 1792-1796

2015

  1. Loss of MT1-MMP causes cell senescence and nuclear defects which can be reversed by retinoic acid

    EMBO Journal, Vol. 34, Núm. 14, pp. 1875-1888

2014

  1. Mutations in filamin C cause a new form of familial hypertrophic cardiomyopathy

    Nature Communications, Vol. 5

2011

  1. Exome sequencing and functional analysis identifies BANF1 mutation as the cause of a hereditary progeroid syndrome

    American Journal of Human Genetics, Vol. 88, Núm. 5, pp. 650-656

  2. Whole-genome sequencing identifies recurrent mutations in chronic lymphocytic leukaemia

    Nature, Vol. 475, Núm. 7354, pp. 101-105

2010

  1. Absence or inhibition of matrix metalloproteinase-8 decreases ventilator-induced lung injury

    American Journal of Respiratory Cell and Molecular Biology, Vol. 43, Núm. 5, pp. 555-563

  2. Resistance to bleomycin-induced lung fibrosis in MMP-8 deficient mice is mediated by interleukin-10

    PLoS ONE, Vol. 5, Núm. 10

2008

  1. Matrix metalloproteinase-8 functions as a metastasis suppressor through modulation of tumor cell adhesion and invasion

    Cancer Research, Vol. 68, Núm. 8, pp. 2755-2763

2007

  1. Increased inflammation delays wound healing in mice deficient in collagenase-2 (MMP-8)

    FASEB Journal, Vol. 21, Núm. 10, pp. 2580-2591

2006

  1. Comparative analysis of cancer genes in the human and chimpanzee genomes

    BMC Genomics, Vol. 7

2005

  1. A genomic view of the complexity of mammalian proteolytic systems

    Biochemical Society Transactions

  2. Comparative genomic analysis of human and chimpanzee proteases

    Genomics, Vol. 86, Núm. 6, pp. 638-647