Lista de obras -

A genetic progression model of Braf(V600E)-induced intestinal tumorigenesis reveals targets for therapeutic intervention.

artículo científico publicado en 2013

A novel molecular diagnostics platform for somatic and germline precision oncology

artículo científico publicado en 2017

A single-copy Sleeping Beauty transposon mutagenesis screen identifies new PTEN-cooperating tumor suppressor genes.

artículo científico publicado en 2017

Accelerated ageing in mice deficient in Zmpste24 protease is linked to p53 signalling activation.

artículo científico publicado en 2005

Aging and chronic DNA damage response activate a regulatory pathway involving miR-29 and p53.

artículo científico publicado en 2011

AtFACE-2, a functional prenylated protein protease from Arabidopsis thaliana related to mammalian Ras-converting enzymes.

artículo científico publicado en 2003

CRISPR/Cas9 somatic multiplex-mutagenesis for high-throughput functional cancer genomics in mice

artículo científico publicado en 2015

Cell-cell adhesion genes CTNNA2 and CTNNA3 are tumour suppressors frequently mutated in laryngeal carcinomas.

artículo científico publicado en 2013

Clinical utility of next-generation sequencing in the aetiological diagnosis of sensorineural hearing loss in a Childhood Hearing Loss Unit

scientific article published on 06 November 2019

Combined treatment with statins and aminobisphosphonates extends longevity in a mouse model of human premature aging.

artículo científico publicado en 2008

Comprehensive genomic diagnosis of inherited retinal and optical nerve disorders reveals hidden syndromes and personalized therapeutic options

scientific article published on 01 June 2020

Comprehensive genomic diagnosis of non-syndromic and syndromic hereditary hearing loss in Spanish patients.

artículo científico publicado en 2018

Disentangling PTEN-cooperating tumor suppressor gene networks in cancer.

artículo científico publicado en 2017

Elucidating the clinical significance of two PMS2 missense variants coexisting in a family fulfilling hereditary cancer criteria.

artículo científico publicado en 2017

Evolutionary routes and KRAS dosage define pancreatic cancer phenotypes

artículo científico publicado en 2018

From immature lamin to premature aging: molecular pathways and therapeutic opportunities.

artículo científico publicado en 2005

Generation of an inducible and optimized piggyBac transposon system.

artículo científico publicado en 2007

Genome-wide transposon screening and quantitative insertion site sequencing for cancer gene discovery in mice.

artículo científico publicado en 2017

Genomic instability in laminopathy-based premature aging

artículo científico publicado en 2005

Identification, functional expression and enzymic analysis of two distinct CaaX proteases from Caenorhabditis elegans.

artículo científico publicado en 2003

Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors.

artículo científico publicado en 2005

Novel germline CDKN2A mutation associated with head and neck squamous cell carcinomas and melanomas.

artículo científico publicado en 2011

Néstor-Guillermo progeria syndrome: A novel premature aging condition with early onset and chronic development caused by BANF1 mutations

article

PiggyBac transposon mutagenesis: a tool for cancer gene discovery in mice.

artículo científico publicado en 2010

PiggyBac transposon tools for recessive screening identify B-cell lymphoma drivers in mice

artículo científico publicado en 2019

Prelamin A causes progeria through cell-extrinsic mechanisms and prevents cancer invasion.

scientific article published on January 2013

Premature aging in mice activates a systemic metabolic response involving autophagy induction.

artículo científico publicado en 2008

Sequencing results from multiple individuals of different ethnicities strongly question the existence of the KCNE1B pseudogene

scientific article published on 16 September 2019

Splicing-Directed Therapy in a New Mouse Model of Human Accelerated Aging

article

The piggyBac transposon displays local and distant reintegration preferences and can cause mutations at noncanonical integration sites

artículo científico publicado en 2013

Lista de obras de

A genetic progression model of Braf(V600E)-induced intestinal tumorigenesis reveals targets for therapeutic intervention.

A novel molecular diagnostics platform for somatic and germline precision oncology

A single-copy Sleeping Beauty transposon mutagenesis screen identifies new PTEN-cooperating tumor suppressor genes.

Accelerated ageing in mice deficient in Zmpste24 protease is linked to p53 signalling activation.

Aging and chronic DNA damage response activate a regulatory pathway involving miR-29 and p53.

AtFACE-2, a functional prenylated protein protease from Arabidopsis thaliana related to mammalian Ras-converting enzymes.

CRISPR/Cas9 somatic multiplex-mutagenesis for high-throughput functional cancer genomics in mice

Cell-cell adhesion genes CTNNA2 and CTNNA3 are tumour suppressors frequently mutated in laryngeal carcinomas.

Clinical utility of next-generation sequencing in the aetiological diagnosis of sensorineural hearing loss in a Childhood Hearing Loss Unit

Combined treatment with statins and aminobisphosphonates extends longevity in a mouse model of human premature aging.

Comprehensive genomic diagnosis of inherited retinal and optical nerve disorders reveals hidden syndromes and personalized therapeutic options

Comprehensive genomic diagnosis of non-syndromic and syndromic hereditary hearing loss in Spanish patients.

Disentangling PTEN-cooperating tumor suppressor gene networks in cancer.

Elucidating the clinical significance of two PMS2 missense variants coexisting in a family fulfilling hereditary cancer criteria.

Evolutionary routes and KRAS dosage define pancreatic cancer phenotypes

From immature lamin to premature aging: molecular pathways and therapeutic opportunities.

Generation of an inducible and optimized piggyBac transposon system.

Genome-wide transposon screening and quantitative insertion site sequencing for cancer gene discovery in mice.

Genomic instability in laminopathy-based premature aging

Identification, functional expression and enzymic analysis of two distinct CaaX proteases from Caenorhabditis elegans.

Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors.

Novel germline CDKN2A mutation associated with head and neck squamous cell carcinomas and melanomas.

Néstor-Guillermo progeria syndrome: A novel premature aging condition with early onset and chronic development caused by BANF1 mutations

PiggyBac transposon mutagenesis: a tool for cancer gene discovery in mice.

PiggyBac transposon tools for recessive screening identify B-cell lymphoma drivers in mice

Prelamin A causes progeria through cell-extrinsic mechanisms and prevents cancer invasion.

Premature aging in mice activates a systemic metabolic response involving autophagy induction.

Sequencing results from multiple individuals of different ethnicities strongly question the existence of the KCNE1B pseudogene

Splicing-Directed Therapy in a New Mouse Model of Human Accelerated Aging

The piggyBac transposon displays local and distant reintegration preferences and can cause mutations at noncanonical integration sites