Beatriz Sobrino
YOU?
Author Swipe
View article: Characterization of snRNA-related neurodevelopmental disorders through the Spanish Undiagnosed Rare Disease Programs
Characterization of snRNA-related neurodevelopmental disorders through the Spanish Undiagnosed Rare Disease Programs Open
Programs for Undiagnosed Rare Diseases (URD) with anonymized data sharing are contributing to the earlier genetic diagnosis of patients and to the identification and characterization of novel genetic disorders. Recently, de novo pathogenic…
View article: DICER1-Related Pediatric Thyroid Neoplasm with Follicular and Morular Growth: A Tumor that Did Not Read the Textbook
DICER1-Related Pediatric Thyroid Neoplasm with Follicular and Morular Growth: A Tumor that Did Not Read the Textbook Open
Thyroid lesions associated with DICER1 syndrome include multifocal hyperplastic and benign neoplastic proliferations (follicular nodular disease) with characteristic macrofollicular and/or intrafollicular centripetal papillary growth patte…
View article: Chronic Kidney Disease After Lung Transplantation in Spain: A Retrospective Single-Center Analysis
Chronic Kidney Disease After Lung Transplantation in Spain: A Retrospective Single-Center Analysis Open
Objectives: Chronic kidney disease (CKD) among lung transplant (LTx) recipients has increased in recent decades. However, there is insufficient evidence regarding clinical outcomes, and current guidelines lack specific recommendations for …
View article: Gram-positive infections in special populations. Expert view on the role of dalbavancin
Gram-positive infections in special populations. Expert view on the role of dalbavancin Open
Dalbavancin may be a valid alternative to overcome the difficulties of infection management in these populations. We hope our insights will prove useful for patient-centered care. A long half-life, evidence-based efficacy and good safety p…
View article: Prevalence and population genetic analyses of parasites in invasive Vespa velutina and native Hymenoptera
Prevalence and population genetic analyses of parasites in invasive Vespa velutina and native Hymenoptera Open
Invasive species pose a threat to the ecological balance of the ecosystems they invade by altering local host-pathogen dynamics. To investigate these relationships and their potential consequences, we examined the prevalence and genetic di…
View article: The treatment of bacterial biofilms cultivated on knee arthroplasty implants using the bioelectric effect
The treatment of bacterial biofilms cultivated on knee arthroplasty implants using the bioelectric effect Open
Introduction: The formation of bacterial biofilms on knee arthroplasty implants can have catastrophic consequences. The aim of this study was to analyze the effectiveness of the bioelectric effect in the elimination of bacterial biofilms o…
View article: Design, synthesis and validation of a new Crimped Head-Piece for DNA-Encoded libraries generation
Design, synthesis and validation of a new Crimped Head-Piece for DNA-Encoded libraries generation Open
Codification of DNA Encoded Libraries (DELs) is critical for successful ligand identification of molecules that bind a protein of interest (POI). There are different encoding strategies that permit, for instance, the customization of a DEL…
View article: Cribriform morular thyroid carcinoma: a case report with pathological, immunohistochemical, and molecular findings suggesting an origin from follicular cells (or their endodermal precursors)
Cribriform morular thyroid carcinoma: a case report with pathological, immunohistochemical, and molecular findings suggesting an origin from follicular cells (or their endodermal precursors) Open
Cribriform morular thyroid carcinoma (CMTC) is a rare malignant thyroid tumor with a peculiar growth pattern secondary to permanent activation of the WNT/β-catenin pathway. CMTC may be associated with familial adenomatous polyposis or spor…
View article: Impact of different COVID-19 waves on kidney replacement therapy epidemiology and mortality: REMER 2020
Impact of different COVID-19 waves on kidney replacement therapy epidemiology and mortality: REMER 2020 Open
Background Kidney replacement therapy (KRT) confers the highest risk of death from coronavirus disease 2019 (COVID-19). However, most data refer to the early pandemic waves. Whole-year analysis compared with prior secular trends are scarce…
View article: Whole-Blood DNA Methylation Analysis Reveals Respiratory Environmental Traits Involved in COVID-19 Severity Following SARS-CoV-2 Infection
Whole-Blood DNA Methylation Analysis Reveals Respiratory Environmental Traits Involved in COVID-19 Severity Following SARS-CoV-2 Infection Open
SARS-CoV-2 causes a severe inflammatory syndrome (COVID-19) leading, in many cases, to bilateral pneumonia, severe dyspnea and in ∼5% of these, death. DNA methylation is known to play an important role in the regulation of the immune proce…
View article: Clinical and immunoserological status 12 weeks after infection with COVID-19: prospective observational study
Clinical and immunoserological status 12 weeks after infection with COVID-19: prospective observational study Open
Objectives to undertake a multidisciplinary follow-up at 12 weeks after an acute episode of COVID-19 to assess the functional status, persistence of symptoms and immunoserological situation. Methods this prospective, observational, single-…
View article: Molecular and Clinical Characterization of a Novel Nonsense Variant in Exon 1 of the UPF3B Gene Found in a Large Spanish Basque Family (MRX82)
Molecular and Clinical Characterization of a Novel Nonsense Variant in Exon 1 of the UPF3B Gene Found in a Large Spanish Basque Family (MRX82) Open
X-linked intellectual disability (XLID) is known to explain up to 10% of the intellectual disability in males. A large number of families in which intellectual disability is the only clinically consistent manifestation have been described.…
View article: The Different Microbial Etiology of Prosthetic Joint Infections according to Route of Acquisition and Time after Prosthesis Implantation, Including the Role of Multidrug-Resistant Organisms
The Different Microbial Etiology of Prosthetic Joint Infections according to Route of Acquisition and Time after Prosthesis Implantation, Including the Role of Multidrug-Resistant Organisms Open
The aim of our study was to characterize the etiology of prosthetic joint infections (PJIs)—including multidrug-resistant organisms (MDRO)—by category of infection. A multicenter study of 2544 patients with PJIs was performed. We analyzed …
View article: Genetic analysis of Sephardic ancestry in the Iberian Peninsula
Genetic analysis of Sephardic ancestry in the Iberian Peninsula Open
The Sephardim are a major Jewish ethnic division whose origins can be traced back to the Iberian Peninsula. We used genome-wide SNP data to investigate the degree of Sephardic admixture in seven populations from the Iberian Peninsula and s…
View article: tagFinder: A Novel Tag Analysis Methodology That Enables Detection of Molecules from DNA-Encoded Chemical Libraries
tagFinder: A Novel Tag Analysis Methodology That Enables Detection of Molecules from DNA-Encoded Chemical Libraries Open
Available tools to analyze sequencing data coming from DNA-encoded chemical libraries (DELs) are often limited to in-house methods, which usually rely on strictly looking for the particular DEL structure used. Current methods do not take i…