Cargando…

Genetic variants associated with gastrointestinal symptoms in Fabry disease

Gastrointestinal symptoms (GIS) are often among the earliest presenting events in Fabry disease (FD), an X-linked lysosomal disorder caused by the deficiency of α-galactosidase A. Despite recent advances in clinical and molecular characterization of FD, the pathophysiology of the GIS is still poorly...

Descripción completa

Detalles Bibliográficos
Autores principales:	Di Martino, Maria Teresa, Scionti, Francesca, Sestito, Simona, Nicoletti, Angela, Arbitrio, Mariamena, Guzzi, Pietro Hiram, Talarico, Valentina, Altomare, Federica, Sanseviero, Maria Teresa, Agapito, Giuseppe, Pisani, Antonio, Riccio, Eleonora, Borrelli, Osvaldo, Concolino, Daniela, Pensabene, Licia
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Impact Journals LLC 2016
Materias:	Research Paper
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5349883/ https://www.ncbi.nlm.nih.gov/pubmed/27825144 http://dx.doi.org/10.18632/oncotarget.13135

Ejemplares similares

Genetic variants associated with Fabry disease progression despite enzyme replacement therapy
por: Scionti, Francesca, et al.
Publicado: (2017)

Gastrointestinal Symptoms of Patients with Fabry Disease
por: Pensabene, Licia, et al.
Publicado: (2016)

From Single Level Analysis to Multi-Omics Integrative Approaches: A Powerful Strategy towards the Precision Oncology
por: Gallo Cantafio, Maria Eugenia, et al.
Publicado: (2018)

DMET(TM) Genotyping: Tools for Biomarkers Discovery in the Era of Precision Medicine
por: Agapito, Giuseppe, et al.
Publicado: (2020)

DMET™ (Drug Metabolism Enzymes and Transporters): a pharmacogenomic platform for precision medicine
por: Arbitrio, Mariamena, et al.
Publicado: (2016)

Pharmacogenomic Profiling of ADME Gene Variants: Current Challenges and Validation Perspectives
por: Arbitrio, Mariamena, et al.
Publicado: (2018)

Pharmacogenomics Biomarker Discovery and Validation for Translation in Clinical Practice
por: Arbitrio, Mariamena, et al.
Publicado: (2020)

DMET-Analyzer: automatic analysis of Affymetrix DMET Data
por: Guzzi, Pietro Hiram, et al.
Publicado: (2012)

OSAnalyzer: A Bioinformatics Tool for the Analysis of Gene Polymorphisms Enriched with Clinical Outcomes
por: Agapito, Giuseppe, et al.
Publicado: (2016)

The Cytoscan HD Array in the Diagnosis of Neurodevelopmental Disorders
por: Scionti, Francesca, et al.
Publicado: (2018)

Risk Alleles for Multiple Myeloma Susceptibility in ADME Genes
por: Scionti, Francesca, et al.
Publicado: (2022)

Dose-Finding Study and Pharmacokinetics Profile of the Novel 13-Mer Antisense miR-221 Inhibitor in Sprague-Dawley Rats
por: Di Martino, Maria Teresa, et al.
Publicado: (2020)

MMRF-CoMMpass Data Integration and Analysis for Identifying Prognostic Markers
por: Settino, Marzia, et al.
Publicado: (2020)

A Novel Bispecific T-Cell Engager (CD1a x CD3ε) BTCE Is Effective against Cortical-Derived T Cell Acute Lymphoblastic Leukemia (T-ALL) Cells
por: Riillo, Caterina, et al.
Publicado: (2022)

Allometric Scaling Approaches for Predicting Human Pharmacokinetic of a Locked Nucleic Acid Oligonucleotide Targeting Cancer-Associated miR-221
por: Di Martino, Maria Teresa, et al.
Publicado: (2019)

miRNAs and lncRNAs as Novel Therapeutic Targets to Improve Cancer Immunotherapy
por: Di Martino, Maria Teresa, et al.
Publicado: (2021)

miR-22 suppresses DNA ligase III addiction in multiple myeloma
por: Caracciolo, Daniele, et al.
Publicado: (2018)

Co-existence of Phenylketonuria and Fabry disease on a 3 year-old boy: case report
por: Concolino, Daniela, et al.
Publicado: (2010)

Therapeutic afucosylated monoclonal antibody and bispecific T-cell engagers for T-cell acute lymphoblastic leukemia
por: Caracciolo, Daniele, et al.
Publicado: (2021)

A Prognostic and Carboplatin Response Predictive Model in Ovarian Cancer: A Mono-Institutional Retrospective Study Based on Clinics and Pharmacogenomics
por: Staropoli, Nicoletta, et al.
Publicado: (2022)

Medication adherence in Fabry patients treated with migalastat: Real world experience
por: Riccio, Eleonora, et al.
Publicado: (2023)

Agalsidase alfa and agalsidase beta in the treatment of Fabry disease: does the dose really matter?
por: Pisani, Antonio, et al.
Publicado: (2015)

Exploiting MYC-induced PARPness to target genomic instability in multiple myeloma
por: Caracciolo, Daniele, et al.
Publicado: (2020)

Impact of COVID-19 pandemic on patients with Fabry disease: An Italian experience
por: Riccio, Eleonora, et al.
Publicado: (2020)

Pain in Fabry Disease: Could Spinal Cord Stimulation be a Solution?
por: Buonanno, Pasquale, et al.
Publicado: (2023)

The Role of Prebiotics and Probiotics in Prevention of Allergic Diseases in Infants
por: Sestito, Simona, et al.
Publicado: (2020)

Cow’s Milk Protein Allergy in Infancy: A Risk Factor for Functional Gastrointestinal Disorders in Children?
por: Pensabene, Licia, et al.
Publicado: (2018)

miR-22 Modulates Lenalidomide Activity by Counteracting MYC Addiction in Multiple Myeloma
por: Caracciolo, Daniele, et al.
Publicado: (2021)

Visualization of protein interaction networks: problems and solutions
por: Agapito, Giuseppe, et al.
Publicado: (2013)

A Parallel Software Pipeline for DMET Microarray Genotyping Data Analysis
por: Agapito, Giuseppe, et al.
Publicado: (2018)

BRCA1/2 genetic background-based therapeutic tailoring of human ovarian cancer: hope or reality?
por: Tagliaferri, Pierosandro, et al.
Publicado: (2009)

Identification of two novel mutations on CLCN7 gene in a patient with malignant ostopetrosis
por: Bonapace, Giuseppe, et al.
Publicado: (2014)

TERRA G-quadruplex stabilization as a new therapeutic strategy for multiple myeloma
por: Scionti, Francesca, et al.
Publicado: (2023)

Non-coding RNAs in cancer: platforms and strategies for investigating the genomic “dark matter”
por: Grillone, Katia, et al.
Publicado: (2020)

Structural disconnection and functional reorganization in Fabry disease: a multimodal MRI study
por: Gabusi, Ilaria, et al.
Publicado: (2022)

A peroxisome proliferator-activated receptor gamma (PPARG) polymorphism is associated with zoledronic acid-related osteonecrosis of the jaw in multiple myeloma patients: analysis by DMET microarray profiling
por: Di Martino, Maria T, et al.
Publicado: (2011)

miR-221/222 as biomarkers and targets for therapeutic intervention on cancer and other diseases: A systematic review
por: Di Martino, Maria Teresa, et al.
Publicado: (2022)

Urine Bikunin as a Marker of Renal Impairment in Fabry's Disease
por: Lepedda, Antonio Junior, et al.
Publicado: (2013)

DNA methylation impact on Fabry disease
por: Di Risi, Teodolinda, et al.
Publicado: (2021)

Stepwise shortening of agalsidase beta infusion duration in Fabry disease: Clinical experience with infusion rate escalation protocol
por: Riccio, Eleonora, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_bcn4tcj1o2il574c5fs9l5osut