CALDERON GIADROSIC, JUAN FRANCISCO
Thumbnail Image
Preferred name
CALDERON GIADROSIC, JUAN FRANCISCO
Main Affiliation
Email
juancalderon@udd.cl
ORCID
Scopus Author ID
57190044311

Research Output

2023 2023 2022 2022 2021 2021 2020 2020 2019 2019 2018 2018 2017 2017 2016 2016 2015 2015 2014 2014 0.0 0.0 0.5 0.5 1.0 1.0 1.5 1.5 2.0 2.0 2.5 2.5 3.0 3.0 3.5 3.5 4.0 4.0

Filters

18
17 1
Reset filters

Settings
Now showing 1 - 10 of 18
No Thumbnail Available
Publication

VEGFA polymorphisms and cardiovascular anomalies in 22q11 microdeletion syndrome: a case-control and family-based study

2009 , CALDERON GIADROSIC, JUAN FRANCISCO , ALONSO R PUGA , M. LUISA GUZMÁN , CARMEN PAZ ASTETE , MARTA ARRIAZA , MARIANA ARACENA , TERESA ARAVENA , PATRICIA SANZ , REPETTO LISBOA, MARIA GABRIELA

View
No Thumbnail Available
Publication

Identification of genetic modifiers of murine hepatic β-glucocerebrosidase activity

2021 , Anyelo Durán , Boris Rebolledo-Jaramillo , Valeria Olguin , Marcelo Rojas-Herrera , Macarena Las Heras , CALDERON GIADROSIC, JUAN FRANCISCO , Silvana Zanlungo , David A. Priestman , Frances M. Platt , KLEIN POSTERNACK, ANDRES DAVID

View
No Thumbnail Available
Publication

Exome Sequencing Identifies Genetic Variants Associated with Extreme Manifestations of the Cardiovascular Phenotype in Marfan Syndrome

2022 , Yanireth Jimenez , Cesar Paulsen , Eduardo Turner , Sebastian Iturra , Oscar Cuevas , Guillermo Lay-son , REPETTO LISBOA, MARIA GABRIELA , Marcelo Rojas , CALDERON GIADROSIC, JUAN FRANCISCO

Marfan Syndrome (MFS) is an autosomal dominant condition caused by variants in the fibrillin-1 (FBN1) gene. Cardinal features of MFS include ectopia lentis (EL), musculoskeletal features and aortic root aneurysm and dissection. Although dissection of the ascending aorta is the main cause of mortality in MFS, the clinical course differs considerably in age of onset and severity, even among individuals who share the same causative variant, suggesting the existence of additional genetic variants that modify the severity of the cardiovascular phenotype in MFS. We recruited MFS patients and classified them into severe (n = 8) or mild aortic phenotype (n = 14) according to age of presentation of the first aorta-related incident. We used Exome Sequencing to identify the genetic variants associated with the severity of aortic manifestations and we performed linkage analysis where suitable. We found five genes associated with severe aortic phenotype and three genes that could be protective for this phenotype in MFS. These genes regulate components of the extracellular matrix, TGFβ pathway and other signaling pathways that are involved in the maintenance of the ECM or angiogenesis. Further studies will be required to understand the functional effect of these variants and explore novel, personalized risk management and, potentially, therapies for these patients.

View
No Thumbnail Available
Publication

NPC1 as a Modulator of Disease Severity and Viral Entry of SARSCoV- 2

2021 , VIAL COX, MARIA CECILIA , CALDERON GIADROSIC, JUAN FRANCISCO , KLEIN POSTERNACK, ANDRES DAVID

The COVID-19 plague is hitting mankind. Several viruses, including SARS-CoV-1, MERS-CoV, EBOV, and SARS-CoV-2, use the endocytic machinery to enter the cell. Genomic variants in NPC1, which encodes for the endo-lysosomal Niemann-Pick type C1 protein, restricts the host-range of viruses in bats and susceptibility to infections in humans. Lack of NPC1 and its pharmacological suppression inhibits many viral infections including SARS-CoV-1 and Type I Feline Coronavirus Infection. Antiviral effects of NPC1-inhibiting drugs for COVID-19 treatment should be explored.

View
No Thumbnail Available
Publication

Rare diseases in Chile: challenges and recommendations in universal health coverage context

2019 , Gonzalo Encina , CASTILLO LABORDE, CARLA CECILIA , LECAROS URZUA, JUAN ALBERTO , Karen Dubois-Camacho , CALDERON GIADROSIC, JUAN FRANCISCO , AGUILERA SANHUEZA, XIMENA PAZ , KLEIN POSTERNACK, ANDRES DAVID , REPETTO LISBOA, MARIA GABRIELA

AbstractRare diseases (RDs) are a large number of diverse conditions with low individual prevalence, but collectively may affect up to 3.5–5.9% of the population. They have psychosocial and economic impact on patients and societies, and are a significant problem for healthcare systems, especially for countries with limited resources. In Chile, financial protection exists for 20 known RDs through different programs that cover diagnosis and treatments. Although beneficial for a number of conditions, most RD patients are left without a proper legal structure that guarantees a financial coverage, and in a vulnerable situation. In this review, we present and analyze the main challenges of the Chilean healthcare system and legislation on RDs, and other ambits of the RD ecosystem, including patient advocacy groups and research. Finally, we propose a set of policy recommendations that includes creating a patient registry, eliciting social preferences on health and financial coverage, improving access to clinical genetic services and therapies, promoting research on RDs and establishing a Latin-American cooperation network, all aimed at promoting equitable quality healthcare access for people living with RDs.

View
No Thumbnail Available
Publication

A Mouse Systems Genetics Approach Reveals Common and Uncommon Genetic Modifiers of Hepatic Lysosomal Enzyme Activities and Glycosphingolipids

2023 , Anyelo Durán , David A. Priestman , Macarena Las Las Heras , Boris Rebolledo-Jaramillo , Valeria Olguín , CALDERON GIADROSIC, JUAN FRANCISCO , Silvana Zanlungo , Jaime Gutiérrez , Frances M. Platt , Andrés D. Klein

Identification of genetic modulators of lysosomal enzyme activities and glycosphingolipids (GSLs) may facilitate the development of therapeutics for diseases in which they participate, including Lysosomal Storage Disorders (LSDs). To this end, we used a systems genetics approach: we measured 11 hepatic lysosomal enzymes and many of their natural substrates (GSLs), followed by modifier gene mapping by GWAS and transcriptomics associations in a panel of inbred strains. Unexpectedly, most GSLs showed no association between their levels and the enzyme activity that catabolizes them. Genomic mapping identified 30 shared predicted modifier genes between the enzymes and GSLs, which are clustered in three pathways and are associated with other diseases. Surprisingly, they are regulated by ten common transcription factors, and their majority by miRNA-340p. In conclusion, we have identified novel regulators of GSL metabolism, which may serve as therapeutic targets for LSDs and may suggest the involvement of GSL metabolism in other pathologies.

View
No Thumbnail Available
Publication

Regulation of Connexins Expression Levels by MicroRNAs, an Update

2016 , CALDERON GIADROSIC, JUAN FRANCISCO , Mauricio A. Retamal

View
No Thumbnail Available
Publication

Controversies on the potential therapeutic use of rapamycin for treating a lysosomal cholesterol storage disease

2018 , CALDERON GIADROSIC, JUAN FRANCISCO , KLEIN POSTERNACK, ANDRES DAVID

View
No Thumbnail Available
Publication

Current Controversies in Diagnosis and Management of Cleft Palate and Velopharyngeal Insufficiency

2015 , Pablo Antonio Ysunza , REPETTO LISBOA, MARIA GABRIELA , Maria Carmen Pamplona , CALDERON GIADROSIC, JUAN FRANCISCO , Kenneth Shaheen , Konkgrit Chaiyasate , Matthew Rontal

Background. One of the most controversial topics concerning cleft palate is the diagnosis and treatment of velopharyngeal insufficiency (VPI).Objective. This paper reviews current genetic aspects of cleft palate, imaging diagnosis of VPI, the planning of operations for restoring velopharyngeal function during speech, and strategies for speech pathology treatment of articulation disorders in patients with cleft palate.Materials and Methods. An updated review of the scientific literature concerning genetic aspects of cleft palate was carried out. Current strategies for assessing and treating articulation disorders associated with cleft palate were analyzed. Imaging procedures for assessing velopharyngeal closure during speech were reviewed, including a recent method for performing intraoperative videonasopharyngoscopy.Results. Conclusions from the analysis of genetic aspects of syndromic and nonsyndromic cleft palate and their use in its diagnosis and management are presented. Strategies for classifying and treating articulation disorders in patients with cleft palate are presented. Preliminary results of the use of multiplanar videofluoroscopy as an outpatient procedure and intraoperative endoscopy for the planning of operations which aimed to correct VPI are presented.Conclusion. This paper presents current aspects of the diagnosis and management of patients with cleft palate and VPI including 3 main aspects: genetics and genomics, speech pathology and imaging diagnosis, and surgical management.

View
No Thumbnail Available
Publication

Cervical Artery Dissection in Postpartum Women after Cesarean and Vaginal Delivery

2022 , Francisca Urrutia , MAZZON AGURTO, ENRICO , BRUNSER, ALEJANDRO , DIAZ TAPIA, VIOLETA DEL CARMEN , CALDERON GIADROSIC, JUAN FRANCISCO , STECHER GUZMAN, XIMENA PATRICIA , Tomas Bernstein , Paulo Zuñiga , SCHILLING REDLICH, ANDREA INGRID , MUÑOZ VENTURELLI, PAULA

View