List of works - Xose S. Puente

A B-cell epigenetic signature defines three biologic subgroups of chronic lymphocytic leukemia with clinical impact.

scientific article published on 25 August 2014

A comprehensive assessment of somatic mutation detection in cancer using whole-genome sequencing.

scientific article

A genomic analysis of rat proteases and protease inhibitors

scientific article

A genomic view of the complexity of mammalian proteolytic systems.

scientific article

A practical guide for mutational signature analysis in hematological malignancies

scientific article published on 05 July 2019

Association Between Germline Mutations in BRF1, a Subunit of the RNA Polymerase III Transcription Complex, and Hereditary Colorectal Cancer.

scientific article

Author Correction: A practical guide for mutational signature analysis in hematological malignancies

scientific article published on 25 July 2019

Author Correction: Comparative and demographic analysis of orang-utan genomes

correction of a scholarly article

CCND2 and CCND3 hijack immunoglobulin light-chain enhancers in cyclin D1- mantle cell lymphoma

scientific article published on 11 December 2018

Cell autonomous and systemic factors in progeria development

scientific article

Chromosome 12p Amplification in Triple-Negative/BRCA1-Mutated Breast Cancer Associates with Emergence of Docetaxel Resistance and Carboplatin Sensitivity

scientific article published on 18 June 2019

Chronic lymphocytic leukemia and mantle cell lymphoma: Crossroads of genetic and microenvironment interactions.

scientific article published on 17 April 2018

Circulating tumour DNA from the cerebrospinal fluid allows the characterisation and monitoring of medulloblastoma

scientific article published on 27 October 2020

Clinical impact of clonal and subclonal TP53, SF3B1, BIRC3, NOTCH1, and ATM mutations in chronic lymphocytic leukemia.

scientific article

Clinical impact of the subclonal architecture and mutational complexity in chronic lymphocytic leukemia.

scientific article

Common and rare variants of microRNA genes in autism spectrum disorders

scientific article

Comparative analysis of cancer genes in the human and chimpanzee genomes

scientific article

Comparative and demographic analysis of orang-utan genomes

scientific article

Comparative genomic analysis of human and chimpanzee proteases

scientific article

Comparative genomic analysis of the zebra finch degradome provides new insights into evolution of proteases in birds and mammals

scientific article (publication date: April 2010)

Comprehensive characterization of complex structural variations in cancer by directly comparing genome sequence reads

scientific article

Congenital dilated cardiomyopathy caused by biallelic mutations in Filamin C.

scientific article published on 7 September 2016

Decapping protein EDC4 regulates DNA repair and phenocopies BRCA1.

scientific article published on 6 March 2018

Erratum: Corrigendum: Signatures of mutational processes in human cancer

scientific article published in Nature

Erratum: Scarce evidence of the causal role of germline mutations in UNC5C in hereditary colorectal cancer and polyposis

scientific article published on 20 April 2016

Estimation of copy number alterations from exome sequencing data

scientific article

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

scientific article

Exome sequencing identifies MUTYH mutations in a family with colorectal cancer and an atypical phenotype

scientific article published in April 2014

Exome sequencing identifies recurrent mutations of the splicing factor SF3B1 gene in chronic lymphocytic leukemia

scientific article

Genetic Predisposition to Chronic Lymphocytic Leukemia Is Mediated by a BMF Super-Enhancer Polymorphism.

scientific article published on 10 August 2016

Genome analysis of the platypus reveals unique signatures of evolution

scientific article

Genome analysis of the platypus reveals unique signatures of evolution

scientific article published in Nature

Genome sequence of the Brown Norway rat yields insights into mammalian evolution

scientific article

Germline Mutations in FAN1 Cause Hereditary Colorectal Cancer by Impairing DNA Repair.

scientific article

Germline mutations in the spindle assembly checkpoint genes BUB1 and BUB3 are infrequent in familial colorectal cancer and polyposis

scientific article published on 15 February 2018

Germline variation in the oxidative DNA repair genes NUDT1 and OGG1 is not associated with hereditary colorectal cancer or polyposis

article

Human and mouse proteases: a comparative genomic approach

scientific article (publication date: July 2003)

Human autophagins, a family of cysteine proteinases potentially implicated in cell degradation by autophagy

scientific article

IgCaller for reconstructing immunoglobulin gene rearrangements and oncogenic translocations from whole-genome sequencing in lymphoid neoplasms

scientific article published on 07 July 2020

Impact of the functional CD5 polymorphism A471V on the response of chronic lymphocytic leukaemia to conventional chemotherapy regimens

scientific article published on 15 March 2016

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

scientific article published on 28 March 2007

Insight into genetic predisposition to chronic lymphocytic leukemia from integrative epigenomics

scientific article published on 09 August 2019

LPS responsiveness and neutrophil chemotaxis in vivo require PMN MMP-8 activity

scientific article

Landscape of somatic mutations and clonal evolution in mantle cell lymphoma.

scientific article published on 21 October 2013

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

scientific article

Loss of genes implicated in gastric function during platypus evolution

scientific article published on 15 May 2008

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

scientific article

Metalloproteases and the Degradome

Minimal spatial heterogeneity in chronic lymphocytic leukemia at diagnosis

scientific article published on 04 February 2020

Non-coding recurrent mutations in chronic lymphocytic leukaemia

scientific article published in Nature

Nuclear envelope alterations generate an aging-like epigenetic pattern in mice deficient in Zmpste24 metalloprotease

POLE and POLD1 mutations in 529 kindred with familial colorectal cancer and/or polyposis: review of reported cases and recommendations for genetic testing and surveillance

scientific article

POT1 mutations cause telomere dysfunction in chronic lymphocytic leukemia

scientific article

Polymorphism +17 C/G in matrix metalloprotease MMP8 decreases lung cancer risk

scientific article

Polymorphisms in XPC, XPD, XRCC1, and XRCC3 DNA repair genes and lung cancer risk in a population of northern Spain

scientific article

Protease Genomics and the Cancer Degradome

article

Protease degradomics: mass spectrometry discovery of protease substrates and the CLIP-CHIP, a dedicated DNA microarray of all human proteases and inhibitors

scientific article

Proteolytic systems: constructing degradomes

scientific article published on January 2009

Recurrent gene mutations in CLL.

scientific article published on January 2013

Scarce evidence of the causal role of germline mutations in UNC5C in hereditary colorectal cancer and polyposis

scientific article published on 8 February 2016

Signatures of mutational processes in human cancer

scientific article (publication date: 22 August 2013)

Specific NOTCH1 antibody targets DLL4-induced proliferation, migration, and angiogenesis in NOTCH1-mutated CLL cells

scientific article published on 15 October 2019

The Degradome database: mammalian proteases and diseases of proteolysis

scientific article published on 06 September 2008

The evolutionary biography of chronic lymphocytic leukemia

scientific article

The genome of a songbird

scientific article

The genomic landscape of chronic lymphocytic leukemia: clinical implications

scientific article

The prognostic impact of minimal residual disease in patients with chronic lymphocytic leukemia requiring first-line therapy

scientific article

The proliferative history shapes the DNA methylome of B-cell tumors and predicts clinical outcome

scientific article published on 02 November 2020

The reference epigenome and regulatory chromatin landscape of chronic lymphocytic leukemia

scientific article published on 21 May 2018

Timing the initiation of multiple myeloma

scientific article published on 21 April 2020

Transcriptome characterization by RNA sequencing identifies a major molecular and clinical subdivision in chronic lymphocytic leukemia

scientific article

Transplacental transfer of essential thrombocythemia in monozygotic twins.

scientific article

List of works by Xose S. Puente

A B-cell epigenetic signature defines three biologic subgroups of chronic lymphocytic leukemia with clinical impact.

A comprehensive assessment of somatic mutation detection in cancer using whole-genome sequencing.

A genomic analysis of rat proteases and protease inhibitors

A genomic view of the complexity of mammalian proteolytic systems.

A practical guide for mutational signature analysis in hematological malignancies

Association Between Germline Mutations in BRF1, a Subunit of the RNA Polymerase III Transcription Complex, and Hereditary Colorectal Cancer.

Author Correction: A practical guide for mutational signature analysis in hematological malignancies

Author Correction: Comparative and demographic analysis of orang-utan genomes

CCND2 and CCND3 hijack immunoglobulin light-chain enhancers in cyclin D1- mantle cell lymphoma

Cell autonomous and systemic factors in progeria development

Chromosome 12p Amplification in Triple-Negative/BRCA1-Mutated Breast Cancer Associates with Emergence of Docetaxel Resistance and Carboplatin Sensitivity

Chronic lymphocytic leukemia and mantle cell lymphoma: Crossroads of genetic and microenvironment interactions.

Circulating tumour DNA from the cerebrospinal fluid allows the characterisation and monitoring of medulloblastoma

Clinical impact of clonal and subclonal TP53, SF3B1, BIRC3, NOTCH1, and ATM mutations in chronic lymphocytic leukemia.

Clinical impact of the subclonal architecture and mutational complexity in chronic lymphocytic leukemia.

Common and rare variants of microRNA genes in autism spectrum disorders

Comparative analysis of cancer genes in the human and chimpanzee genomes

Comparative and demographic analysis of orang-utan genomes

Comparative genomic analysis of human and chimpanzee proteases

Comparative genomic analysis of the zebra finch degradome provides new insights into evolution of proteases in birds and mammals

Comprehensive characterization of complex structural variations in cancer by directly comparing genome sequence reads

Congenital dilated cardiomyopathy caused by biallelic mutations in Filamin C.

Decapping protein EDC4 regulates DNA repair and phenocopies BRCA1.

Erratum: Corrigendum: Signatures of mutational processes in human cancer

Erratum: Scarce evidence of the causal role of germline mutations in UNC5C in hereditary colorectal cancer and polyposis

Estimation of copy number alterations from exome sequencing data

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

Exome sequencing identifies MUTYH mutations in a family with colorectal cancer and an atypical phenotype

Exome sequencing identifies recurrent mutations of the splicing factor SF3B1 gene in chronic lymphocytic leukemia

Genetic Predisposition to Chronic Lymphocytic Leukemia Is Mediated by a BMF Super-Enhancer Polymorphism.

Genome analysis of the platypus reveals unique signatures of evolution

Genome analysis of the platypus reveals unique signatures of evolution

Genome sequence of the Brown Norway rat yields insights into mammalian evolution

Germline Mutations in FAN1 Cause Hereditary Colorectal Cancer by Impairing DNA Repair.

Germline mutations in the spindle assembly checkpoint genes BUB1 and BUB3 are infrequent in familial colorectal cancer and polyposis

Germline variation in the oxidative DNA repair genes NUDT1 and OGG1 is not associated with hereditary colorectal cancer or polyposis

Human and mouse proteases: a comparative genomic approach

Human autophagins, a family of cysteine proteinases potentially implicated in cell degradation by autophagy

IgCaller for reconstructing immunoglobulin gene rearrangements and oncogenic translocations from whole-genome sequencing in lymphoid neoplasms

Impact of the functional CD5 polymorphism A471V on the response of chronic lymphocytic leukaemia to conventional chemotherapy regimens

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

Insight into genetic predisposition to chronic lymphocytic leukemia from integrative epigenomics

LPS responsiveness and neutrophil chemotaxis in vivo require PMN MMP-8 activity

Landscape of somatic mutations and clonal evolution in mantle cell lymphoma.

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

Loss of genes implicated in gastric function during platypus evolution

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

Metalloproteases and the Degradome

Minimal spatial heterogeneity in chronic lymphocytic leukemia at diagnosis

Non-coding recurrent mutations in chronic lymphocytic leukaemia

Nuclear envelope alterations generate an aging-like epigenetic pattern in mice deficient in Zmpste24 metalloprotease

POLE and POLD1 mutations in 529 kindred with familial colorectal cancer and/or polyposis: review of reported cases and recommendations for genetic testing and surveillance

POT1 mutations cause telomere dysfunction in chronic lymphocytic leukemia

Polymorphism +17 C/G in matrix metalloprotease MMP8 decreases lung cancer risk

Polymorphisms in XPC, XPD, XRCC1, and XRCC3 DNA repair genes and lung cancer risk in a population of northern Spain

Protease Genomics and the Cancer Degradome

Protease degradomics: mass spectrometry discovery of protease substrates and the CLIP-CHIP, a dedicated DNA microarray of all human proteases and inhibitors

Proteolytic systems: constructing degradomes

Recurrent gene mutations in CLL.

Scarce evidence of the causal role of germline mutations in UNC5C in hereditary colorectal cancer and polyposis

Signatures of mutational processes in human cancer

Specific NOTCH1 antibody targets DLL4-induced proliferation, migration, and angiogenesis in NOTCH1-mutated CLL cells

The Degradome database: mammalian proteases and diseases of proteolysis

The evolutionary biography of chronic lymphocytic leukemia

The genome of a songbird

The genomic landscape of chronic lymphocytic leukemia: clinical implications

The prognostic impact of minimal residual disease in patients with chronic lymphocytic leukemia requiring first-line therapy

The proliferative history shapes the DNA methylome of B-cell tumors and predicts clinical outcome

The reference epigenome and regulatory chromatin landscape of chronic lymphocytic leukemia

Timing the initiation of multiple myeloma

Transcriptome characterization by RNA sequencing identifies a major molecular and clinical subdivision in chronic lymphocytic leukemia

Transplacental transfer of essential thrombocythemia in monozygotic twins.