Ricardo Fujita
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View article: Distribution of CCR5-Δ32 and HLA-B*57:01 alleles in HIV-seropositive and HIV-exposed seronegative Peruvian individuals
Distribution of CCR5-Δ32 and HLA-B*57:01 alleles in HIV-seropositive and HIV-exposed seronegative Peruvian individuals Open
Little information is available about CCR5-Δ32 and HLA-B*57:01 alleles in the Peruvian population, especially in human immunodeficiency virus (HIV)-negative people with high-risk sexual behavior. Here we describe the prevalence of these al…
View article: Functionally deficient UBOX5 variants and primary angle-closure glaucoma
Functionally deficient UBOX5 variants and primary angle-closure glaucoma Open
Primary angle-closure glaucoma is a major cause of irreversible blindness worldwide afflicting >20 million people. Through whole exome sequencing, we analysed the association between gene-based burden of rare, protein-altering genetic vari…
View article: Human population history on the North Coast of Peru from Y chromosomes and mitogenomes
Human population history on the North Coast of Peru from Y chromosomes and mitogenomes Open
View article: Distribution of CCR5-∆32 and HLA-B*57:01alleles in HIV-seropositive and HIV-exposed seronegative Peruvian individuals
Distribution of CCR5-∆32 and HLA-B*57:01alleles in HIV-seropositive and HIV-exposed seronegative Peruvian individuals Open
Little information is available about CCR5-Δ32 and HLA-B*57:01 alleles in the Peruvian population, especially in HIV-negative people with high-risk sexual behavior. In this study, we described the prevalence of these alleles in HIV-exposed…
View article: Trazando los haplogrupos alóctonos de Perú a través de los marcadores de ADN uniparentales
Trazando los haplogrupos alóctonos de Perú a través de los marcadores de ADN uniparentales Open
Es conocido que las actuales poblaciones peruanas son el resultado de la contribución de los bagajes genéticos, fundamentalmente de América, Eurasia y África. Asimismo, que el mestizaje inicialmente se dio generalmente entre el varón europ…
View article: New Associations with the HIV Predisposing and Protective Alleles of the Human Leukocyte Antigen System in a Peruvian Population
New Associations with the HIV Predisposing and Protective Alleles of the Human Leukocyte Antigen System in a Peruvian Population Open
The accurate determination of an individual’s unique human leukocyte antigen (HLA) allele holds important significance in evaluating the risk associated with autoimmune and infectious diseases, such as human immunodeficiency virus (HIV) in…
View article: Variants in the N-acetyltranferase 2 gene, acetylator phenotypes and their association with tuberculosis: Findings in Peruvian patients
Variants in the N-acetyltranferase 2 gene, acetylator phenotypes and their association with tuberculosis: Findings in Peruvian patients Open
The A allele, GA heterozygous genotype of the rs1799931 variant of the NAT2 gene, and SA + IA acetylator phenotype showed an association with increased risk for the development of TB. In addition to xenobiotic metabolism, other metabolic a…
View article: New Associations with HIV Predisposing and Protective Alleles of the HLA System in a Peruvian Population
New Associations with HIV Predisposing and Protective Alleles of the HLA System in a Peruvian Population Open
Accurate determination of an individual’s unique human leukocyte antigen (HLA) allele holds important significance in evaluating the risk associated with autoimmune and infectious diseases, such as human immunodeficiency virus (HIV) infect…
View article: Variantes genéticas y niveles séricos de la ApoA1 y ApoB100 en gestantes peruanas con preeclampsia severa
Variantes genéticas y niveles séricos de la ApoA1 y ApoB100 en gestantes peruanas con preeclampsia severa Open
Background: Preeclampsia is a multi-organ disease that causes maternal and perinatalmorbidity and mortality, with an unclear pathophysiology and without specificprevention methods and/or treatments. Objective: To establish the associationb…
View article: Variants in the N-Acetyltranferase 2 Gene, Acetylator Phenotypes and Association with Tuberculosis. Findings in Peruvian Patients
Variants in the N-Acetyltranferase 2 Gene, Acetylator Phenotypes and Association with Tuberculosis. Findings in Peruvian Patients Open
View article: Inka Child Mummy Found in Cerro Aconcagua (Argentina) Traced Back to Populations of the Northern Peruvian Coast through Y-Chromosome Analysis
Inka Child Mummy Found in Cerro Aconcagua (Argentina) Traced Back to Populations of the Northern Peruvian Coast through Y-Chromosome Analysis Open
The mummy of a seven-year-old child that was discovered in 1985 in Cerro Aconcagua (Mendoza, Argentina) was likely part of an Inka sacrificial religious practice known as capacocha. Previous uniparental DNA marker studies conducted by some…
View article: Promoter hypermethylation of <scp><i>RARB</i></scp> and <scp><i>GSTP1</i></scp> genes in plasma cell‐free <scp>DNA</scp> as breast cancer biomarkers in Peruvian women
Promoter hypermethylation of <span><i>RARB</i></span> and <span><i>GSTP1</i></span> genes in plasma cell‐free <span>DNA</span> as breast cancer biomarkers in Peruvian women Open
Background Promoter hypermethylation is one of the enabling mechanisms of hallmarks of cancer. Tumor suppressor genes like RARB and GSTP1 have been reported as hypermethylated in breast cancer tumors compared with normal tissues in several…
View article: Genetic portrait of the Amazonian communities of Peru and Bolivia: The legacy of the Takanan‐speaking people
Genetic portrait of the Amazonian communities of Peru and Bolivia: The legacy of the Takanan‐speaking people Open
During the colonial period in South America, many autochthonous populations were affected by relocation by European missionary reductions and other factors that impacted and reconfigured their genetic makeup. Presently, the descendants of …
View article: Framework for Adoption of Next-Generation Sequencing (NGS) Globally in the Oncology Area
Framework for Adoption of Next-Generation Sequencing (NGS) Globally in the Oncology Area Open
Radical new possibilities of improved treatment of cancer are on offer from an advanced medical technology already demonstrating its significance: next-generation sequencing (NGS). This refined testing provides unprecedentedly precise diag…
View article: La europeización de la genética y una mirada a los peruanos
La europeización de la genética y una mirada a los peruanos Open
Las ciencias biomédicas se han desarrollado principalmente en los países occidentales, por lo que no es sorpresa que haya un sesgo excesivo de representación de europeos o descendientes de europeos como sujetos de las ciencias médicas. Se …
View article: Whole exome sequencing in a sample of Peruvian patients diagnosed with epidermolysis bullosa
Whole exome sequencing in a sample of Peruvian patients diagnosed with epidermolysis bullosa Open
We were able to confirm and identify pathological mutations in 34 of 35 patients.
View article: Chip-based digital Polymerase Chain Reaction as quantitative technique for the detection of PIK3CA mutations in breast cancer patients
Chip-based digital Polymerase Chain Reaction as quantitative technique for the detection of PIK3CA mutations in breast cancer patients Open
View article: Fighting Cancer around the World: A Framework for Action
Fighting Cancer around the World: A Framework for Action Open
Tackling cancer is a major challenge right on the global level. Europe is only the tip of an iceberg of cancer around the world. Prosperous developed countries share the same problems besetting Europe–and the countries and regions with few…
View article: Ethics of DNA research on human remains: five globally applicable guidelines
Ethics of DNA research on human remains: five globally applicable guidelines Open
View article: MLPA followed by target‐NGS to detect mutations in the dystrophin gene of Peruvian patients suspected of DMD/DMB
MLPA followed by target‐NGS to detect mutations in the dystrophin gene of Peruvian patients suspected of DMD/DMB Open
Background We report the molecular analysis of the DMD gene in a group of Peruvian patients with Duchenne/Becker dystrophinopathy. This is the first study to thoroughly characterize mutations in this population. Methods We used the combina…
View article: Chip-Based Digital Pcr Improves the Detection of Low-Rate pik3ca Mutations in Breast Cancer Patients
Chip-Based Digital Pcr Improves the Detection of Low-Rate pik3ca Mutations in Breast Cancer Patients Open
PIK3CA is a gene usually mutated in breast cancer and has an important role in tumor progression and treatment. Therefore, there is required a technique to detect low-rate PIK3CA mutations improving the clinical conduct. This study aimed t…
View article: La COVID-19, la ciencia y la pseudociencia, un yin-yang peligroso
La COVID-19, la ciencia y la pseudociencia, un yin-yang peligroso Open
Today, science has allowed mankind to improve its survival rate and also, as never before in history, to improve health, sanitation, housing, communications, transportation, computing, entertainment, standard of living, etc. It is enough t…
View article: Diversity in immunogenomics: the value and the challenge
Diversity in immunogenomics: the value and the challenge Open
View article: DATASET - MLPA FOLLOWED BY TARGET-NGS TO DETECT MUTATIONS IN THE DYSTROPHIN GENE OF PERUVIAN PATIENTS SUSPECTED OF DMD/DMB
DATASET - MLPA FOLLOWED BY TARGET-NGS TO DETECT MUTATIONS IN THE DYSTROPHIN GENE OF PERUVIAN PATIENTS SUSPECTED OF DMD/DMB Open
This record contains figures and tables related to the manuscript: "MLPA FOLLOWED BY TARGET-NGS TO DETECT MUTATIONS IN THE DYSTROPHIN GENE OF PERUVIAN PATIENTS SUSPECTED OF DMD/DMB". Abstract Background: We report the molecular analysis of…
View article: DATASET - MLPA FOLLOWED BY TARGET-NGS TO DETECT MUTATIONS IN THE DYSTROPHIN GENE OF PERUVIAN PATIENTS SUSPECTED OF DMD/DMB
DATASET - MLPA FOLLOWED BY TARGET-NGS TO DETECT MUTATIONS IN THE DYSTROPHIN GENE OF PERUVIAN PATIENTS SUSPECTED OF DMD/DMB Open
This record contains figures and tables related to the manuscript: "MLPA FOLLOWED BY TARGET-NGS TO DETECT MUTATIONS IN THE DYSTROPHIN GENE OF PERUVIAN PATIENTS SUSPECTED OF DMD/DMB". Abstract Background: We report the molecular analysis of…
View article: Asesoramiento genético a una portadora asintomática de DMD: Primer caso reportado en el Sistema de Salud Pública del Perú
Asesoramiento genético a una portadora asintomática de DMD: Primer caso reportado en el Sistema de Salud Pública del Perú Open
La distrofia muscular de Duchenne (DMD) es una distrofinopatía rápidamente progresiva con herencia ligada al cromosoma X. Este reporte describe el caso de una mujer con historia familiar de hermano y sobrinos con DMD, que acudió a consulta…
View article: <i>PUM1</i> and <i>RNase P</i> genes as potential cell‐free DNA markers in breast cancer
<i>PUM1</i> and <i>RNase P</i> genes as potential cell‐free DNA markers in breast cancer Open
Background Cell‐free DNA (cfDNA) is used in clinical research to identify biomarkers for diagnosis of and follow‐up on cancer. Here, we propose a fast and innovative approach using traditional housekeeping genes as cfDNA targets in a copy …
View article: Translations of "Ethics of DNA research on human remains: five globally applicable guidelines"
Translations of "Ethics of DNA research on human remains: five globally applicable guidelines" Open
Translations of the paper "Ethics of DNA research on human remains: five globally applicable guidelines," published and openly accessible at Nature:https://www.nature.com/articles/s41586-021-04008-xDOI: 10.1038/s41586-021-04008-xTranslatio…
View article: Diversity in immunogenomics: the value and the challenge
Diversity in immunogenomics: the value and the challenge Open
With the advent of high-throughput sequencing technologies, the fields of immunogenomics and adaptive immune receptor repertoire research are facing both opportunities and challenges. Adaptive immune receptor repertoire sequencing (AIRR-se…
View article: Lack of association between angiotensin-converting enzyme (ACE) genotype and essential hypertension in Peruvian older people
Lack of association between angiotensin-converting enzyme (ACE) genotype and essential hypertension in Peruvian older people Open
BACKGROUND: Epidemiological studies have shown an association between the ACE gene I/D polymorphism with arterial hypertension, specifically the DD genotype, in different populations. The objective of this study is to evaluate the associat…