Lista de obras - David Otaegui - Dominio Público Uruguay

A New Risk Variant for Multiple Sclerosis at 11q23.3 Locus Is Associated with Expansion of CXCR5+ Circulating Regulatory T Cells

artículo científico publicado en 2020

A functional variant that affects exon-skipping and protein expression of SP140 as genetic mechanism predisposing to multiple sclerosis.

artículo científico publicado en 2015

A genomic screen of Spanish multiple sclerosis patients reveals multiple loci associated with the disease

artículo científico publicado en 2003

ABO blood group distributions in multiple sclerosis patients from Basque Country; O- as a protective factor

scientific article published on 01 October 2019

ANKRD55 and DHCR7 are novel multiple sclerosis risk loci

article

Age gene expression and coexpression progressive signatures in peripheral blood leukocytes.

artículo científico publicado en 2015

Apolipoprotein E epsilon4 allele in familial and sporadic Parkinson's disease

scientific article published on 14 August 2006

Association between synapsin III gene promoter SNPs and multiple sclerosis in Basque patients.

artículo científico publicado en 2008

Blood Markers in Healthy-Aged Nonagenarians: A Combination of High Telomere Length and Low Amyloidβ Are Strongly Associated With Healthy Aging in the Oldest Old

artículo científico publicado en 2018

Blood miRNA expression pattern is a possible risk marker for natalizumab-associated progressive multifocal leukoencephalopathy in multiple sclerosis patients.

artículo científico publicado en 2014

CD24 V/V is an allele associated with the risk of developing multiple sclerosis in the Spanish population

scientific article published on 01 August 2006

Cancer risk in DM1 is sex-related and linked to miRNA-200/141 downregulation.

artículo científico publicado en 2016

Characterization of novel CAPN3 isoforms in white blood cells: an alternative approach for limb-girdle muscular dystrophy 2A diagnosis.

artículo científico publicado en 2008

Chitinase 3-like 1 plasma levels are increased in patients with progressive forms of multiple sclerosis

artículo científico publicado en 2011

CircRNAs and cancer: Biomarkers and master regulators

scientific article published on 11 December 2018

Circular RNA profiling reveals that circular RNAs from ANXA2 can be used as new biomarkers for multiple sclerosis

artículo científico publicado en 2017

Circulating microparticles reflect treatment effects and clinical status in multiple sclerosis

scientific article published on 01 January 2014

Cognitive function in facioscapulohumeral dystrophy correlates with the molecular defect.

artículo científico publicado en 2008

Cognitive performance and quality of life in multiple sclerosis in Gipuzkoa

artículo científico publicado en 2014

Cognitive/personality pattern and triplet expansion size in adult myotonic dystrophy type 1 (DM1): CTG repeats, cognition and personality in DM1.

artículo científico publicado en 2009

Development and validation of a LC-MS assay for the quantification of ikh12 a novel anti-tumor candidate in rat plasma and tissues and its application in a pharmacokinetic study

artículo científico publicado en 2015

Differential micro RNA expression in PBMC from multiple sclerosis patients

artículo científico publicado en 2009

ERK2 protein regulates the proliferation of human mesenchymal stem cells without affecting their mobilization and differentiation potential.

artículo científico publicado en 2008

Editorial: Novel Clinical Applications of Extracellular Vesicles

artículo científico publicado en 2015

Expression Profiling Analysis Reveals Key MicroRNA-mRNA Interactions in Early Retinal Degeneration in Retinitis Pigmentosa.

artículo científico publicado en 2018

Extracellular Vesicles in Multiple Sclerosis: What are They Telling Us?

artículo científico publicado en 2014

Ferritin-mediated siRNA delivery and gene silencing in human tumor and primary cells.

artículo científico publicado en 2016

Fine mapping and functional analysis of the multiple sclerosis risk gene CD6

artículo científico publicado en 2013

Genes related to iron metabolism and susceptibility to Alzheimer's disease in Basque population

artículo científico publicado en 2006

Genome-wide significant association of ANKRD55 rs6859219 and multiple sclerosis risk.

artículo científico publicado en 2013

HLA-DRB1*15:01 and multiple sclerosis: a female association?

artículo científico publicado en 2011

Identification of a functional variant in the KIF5A-CYP27B1-METTL1-FAM119B locus associated with multiple sclerosis

artículo científico publicado en 2012

Identification of ncRNAs as potential therapeutic targets in multiple sclerosis through differential ncRNA - mRNA network analysis.

artículo científico publicado en 2015

Increased transcriptional activity of milk-related genes following the active phase of experimental autoimmune encephalomyelitis and multiple sclerosis

artículo científico publicado en 2007

Inflammaging and Frailty Status Do Not Result in an Increased Extracellular Vesicle Concentration in Circulation.

artículo científico publicado en 2016

Influence of CCR5-Delta32 genotype in Spanish population with multiple sclerosis

scientific article published on 10 March 2007

LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene.

artículo científico publicado en 2005

Liquid Biopsy in Glioblastoma: Opportunities, Applications and Challenges

scientific article published on 05 July 2019

Longitudinal clinical follow-up of a large family with the R357P Twinkle mutation.

artículo científico publicado en 2013

Methods for extracellular vesicles isolation in a hospital setting.

artículo científico

Minimizing creatine kinase variability in rats for neuromuscular research purposes

artículo científico publicado en 2008

Mitochondrial DNA depletion: mutations in thymidine kinase gene with myopathy and SMA.

artículo científico publicado en 2002

Mitochondrial haplogroups in Basque multiple sclerosis patients

artículo científico publicado en 2004

Mitochondrial polymporphisms in Parkinson's Disease

artículo científico publicado en 2004

Models for Studying Myelination, Demyelination and Remyelination

artículo científico publicado en 2017

Molecular characterization of putative modulatory factors in two Spanish families with A1555G deafness

artículo científico publicado en 2008

Mutations in progranulin gene: clinical, pathological, and ribonucleic acid expression findings.

artículo científico publicado en 2007

Neural-competent cells of adult human dermis belong to the Schwann lineage

artículo científico publicado en 2014

Neurogenetic disorders in the Basque population

artículo científico publicado en 2014

Open Access of COVID-19-related publications in the first quarter of 2020: a preliminary study based in PubMed

scientific article published on 26 June 2020

Open Access of COVID-19-related publications in the first quarter of 2020: a preliminary study based in PubMed

artículo científico publicado en 2020

Penetrance in Parkinson's disease related to the LRRK2 R1441G mutation in the Basque country (Spain).

artículo científico publicado en 2010

Progressive changes in non-coding RNA profile in leucocytes with age.

artículo científico publicado en 2017

Replication of top markers of a genome-wide association study in multiple sclerosis in Spain.

artículo científico publicado en 2010

Replication study of 10 genes showing evidence for association with multiple sclerosis: validation of TMEM39A, IL12B and CLBL genes

article

SncRNA (microRNA &snoRNA) opposite expression pattern found in multiple sclerosis relapse and remission is sex dependent.

artículo científico publicado en 2016

Somatic mosaicism in a case of apparently sporadic Creutzfeldt-Jakob disease carrying a de novo D178N mutation in the PRNP gene

artículo científico publicado en 2010

Study of mitochondrial DNA mutations in patients with migraine with prolonged aura

scientific article published on 01 July 2004

T cells and immune functions of plasma extracellular vesicles are differentially modulated from adults to centenarians

scientific article published on 27 November 2019

TACI mutation in Good's Syndrome: in search of a genetic basis

artículo científico publicado en 2012

The First Dose of Fingolimod Affects Circulating Extracellular Vesicles in Multiple Sclerosis Patients

artículo científico publicado en 2018

The Rare IL22RA2 Signal Peptide Coding Variant rs28385692 Decreases Secretion of IL-22BP Isoform-1, -2 and -3 and Is Associated with Risk for Multiple Sclerosis

artículo científico publicado en 2020

The autoimmune disease-associated KIF5A, CD226 and SH2B3 gene variants confer susceptibility for multiple sclerosis

artículo científico publicado en 2010

The circulating transcriptome as a source of cancer liquid biopsy biomarkers

artículo científico publicado en 2019

The circulating transcriptome as a source of non-invasive cancer biomarkers: concepts and controversies of non-coding and coding RNA in body fluids

artículo científico publicado en 2015

The genetics of multiple sclerosis: review of current and emerging candidates

artículo científico publicado en 2013

Therapeutic Potential of Extracellular Vesicles for Demyelinating Diseases; Challenges and Opportunities

artículo científico publicado en 2018

To Be or Not to Be: Circular RNAs or mRNAs From Circular DNAs?

scientific article published on 11 October 2019

Transcriptomic profile reveals gender-specific molecular mechanisms driving multiple sclerosis progression

artículo científico publicado en 2014

UCP2 and mitochondrial haplogroups as a multiple sclerosis risk factor

artículo científico publicado en 2007

Validation of IRF5 as multiple sclerosis risk gene: putative role in interferon beta therapy and human herpes virus-6 infection.

artículo científico publicado en 2010

Validation of the CD6 and TNFRSF1A loci as risk factors for multiple sclerosis in Spain.

artículo científico publicado en 2010

Whole-Transcriptome Analysis in Peripheral Blood Mononuclear Cells from Patients with Lipid-Specific Oligoclonal IgM Band Characterization Reveals Two Circular RNAs and Two Linear RNAs as Biomarkers of Highly Active Disease

scientific article published on 26 November 2020

X-linked dominant scapuloperoneal myopathy is due to a mutation in the gene encoding four-and-a-half-LIM protein 1 ⬇️

artículo científico publicado en 2008

Yerba mate (Ilex paraguariensis) inhibits lymphocyte activation in vitro

artículo científico publicado en 2016

Lista de obras de David Otaegui

A New Risk Variant for Multiple Sclerosis at 11q23.3 Locus Is Associated with Expansion of CXCR5+ Circulating Regulatory T Cells

A functional variant that affects exon-skipping and protein expression of SP140 as genetic mechanism predisposing to multiple sclerosis.

A genomic screen of Spanish multiple sclerosis patients reveals multiple loci associated with the disease

ABO blood group distributions in multiple sclerosis patients from Basque Country; O- as a protective factor

ANKRD55 and DHCR7 are novel multiple sclerosis risk loci

Age gene expression and coexpression progressive signatures in peripheral blood leukocytes.

Apolipoprotein E epsilon4 allele in familial and sporadic Parkinson's disease

Association between synapsin III gene promoter SNPs and multiple sclerosis in Basque patients.

Blood Markers in Healthy-Aged Nonagenarians: A Combination of High Telomere Length and Low Amyloidβ Are Strongly Associated With Healthy Aging in the Oldest Old

Blood miRNA expression pattern is a possible risk marker for natalizumab-associated progressive multifocal leukoencephalopathy in multiple sclerosis patients.

CD24 V/V is an allele associated with the risk of developing multiple sclerosis in the Spanish population

Cancer risk in DM1 is sex-related and linked to miRNA-200/141 downregulation.

Characterization of novel CAPN3 isoforms in white blood cells: an alternative approach for limb-girdle muscular dystrophy 2A diagnosis.

Chitinase 3-like 1 plasma levels are increased in patients with progressive forms of multiple sclerosis

CircRNAs and cancer: Biomarkers and master regulators

Circular RNA profiling reveals that circular RNAs from ANXA2 can be used as new biomarkers for multiple sclerosis

Circulating microparticles reflect treatment effects and clinical status in multiple sclerosis

Cognitive function in facioscapulohumeral dystrophy correlates with the molecular defect.

Cognitive performance and quality of life in multiple sclerosis in Gipuzkoa

Cognitive/personality pattern and triplet expansion size in adult myotonic dystrophy type 1 (DM1): CTG repeats, cognition and personality in DM1.

Development and validation of a LC-MS assay for the quantification of ikh12 a novel anti-tumor candidate in rat plasma and tissues and its application in a pharmacokinetic study

Differential micro RNA expression in PBMC from multiple sclerosis patients

ERK2 protein regulates the proliferation of human mesenchymal stem cells without affecting their mobilization and differentiation potential.

Editorial: Novel Clinical Applications of Extracellular Vesicles

Expression Profiling Analysis Reveals Key MicroRNA-mRNA Interactions in Early Retinal Degeneration in Retinitis Pigmentosa.

Extracellular Vesicles in Multiple Sclerosis: What are They Telling Us?

Ferritin-mediated siRNA delivery and gene silencing in human tumor and primary cells.

Fine mapping and functional analysis of the multiple sclerosis risk gene CD6

Genes related to iron metabolism and susceptibility to Alzheimer's disease in Basque population

Genome-wide significant association of ANKRD55 rs6859219 and multiple sclerosis risk.

HLA-DRB1*15:01 and multiple sclerosis: a female association?

Identification of a functional variant in the KIF5A-CYP27B1-METTL1-FAM119B locus associated with multiple sclerosis

Identification of ncRNAs as potential therapeutic targets in multiple sclerosis through differential ncRNA - mRNA network analysis.

Increased transcriptional activity of milk-related genes following the active phase of experimental autoimmune encephalomyelitis and multiple sclerosis

Inflammaging and Frailty Status Do Not Result in an Increased Extracellular Vesicle Concentration in Circulation.

Influence of CCR5-Delta32 genotype in Spanish population with multiple sclerosis

LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene.

Liquid Biopsy in Glioblastoma: Opportunities, Applications and Challenges

Longitudinal clinical follow-up of a large family with the R357P Twinkle mutation.

Methods for extracellular vesicles isolation in a hospital setting.

Minimizing creatine kinase variability in rats for neuromuscular research purposes

Mitochondrial DNA depletion: mutations in thymidine kinase gene with myopathy and SMA.

Mitochondrial haplogroups in Basque multiple sclerosis patients

Mitochondrial polymporphisms in Parkinson's Disease

Models for Studying Myelination, Demyelination and Remyelination

Molecular characterization of putative modulatory factors in two Spanish families with A1555G deafness

Mutations in progranulin gene: clinical, pathological, and ribonucleic acid expression findings.

Neural-competent cells of adult human dermis belong to the Schwann lineage

Neurogenetic disorders in the Basque population

Open Access of COVID-19-related publications in the first quarter of 2020: a preliminary study based in PubMed

Open Access of COVID-19-related publications in the first quarter of 2020: a preliminary study based in PubMed

Penetrance in Parkinson's disease related to the LRRK2 R1441G mutation in the Basque country (Spain).

Progressive changes in non-coding RNA profile in leucocytes with age.

Replication of top markers of a genome-wide association study in multiple sclerosis in Spain.

Replication study of 10 genes showing evidence for association with multiple sclerosis: validation of TMEM39A, IL12B and CLBL genes

SncRNA (microRNA &snoRNA) opposite expression pattern found in multiple sclerosis relapse and remission is sex dependent.

Somatic mosaicism in a case of apparently sporadic Creutzfeldt-Jakob disease carrying a de novo D178N mutation in the PRNP gene

Study of mitochondrial DNA mutations in patients with migraine with prolonged aura

T cells and immune functions of plasma extracellular vesicles are differentially modulated from adults to centenarians

TACI mutation in Good's Syndrome: in search of a genetic basis

The First Dose of Fingolimod Affects Circulating Extracellular Vesicles in Multiple Sclerosis Patients

The Rare IL22RA2 Signal Peptide Coding Variant rs28385692 Decreases Secretion of IL-22BP Isoform-1, -2 and -3 and Is Associated with Risk for Multiple Sclerosis

The autoimmune disease-associated KIF5A, CD226 and SH2B3 gene variants confer susceptibility for multiple sclerosis

The circulating transcriptome as a source of cancer liquid biopsy biomarkers

The circulating transcriptome as a source of non-invasive cancer biomarkers: concepts and controversies of non-coding and coding RNA in body fluids

The genetics of multiple sclerosis: review of current and emerging candidates

Therapeutic Potential of Extracellular Vesicles for Demyelinating Diseases; Challenges and Opportunities

To Be or Not to Be: Circular RNAs or mRNAs From Circular DNAs?

Transcriptomic profile reveals gender-specific molecular mechanisms driving multiple sclerosis progression

UCP2 and mitochondrial haplogroups as a multiple sclerosis risk factor

Validation of IRF5 as multiple sclerosis risk gene: putative role in interferon beta therapy and human herpes virus-6 infection.

Validation of the CD6 and TNFRSF1A loci as risk factors for multiple sclerosis in Spain.

Whole-Transcriptome Analysis in Peripheral Blood Mononuclear Cells from Patients with Lipid-Specific Oligoclonal IgM Band Characterization Reveals Two Circular RNAs and Two Linear RNAs as Biomarkers of Highly Active Disease

X-linked dominant scapuloperoneal myopathy is due to a mutation in the gene encoding four-and-a-half-LIM protein 1 ⬇️

Yerba mate (Ilex paraguariensis) inhibits lymphocyte activation in vitro