Cargando…

Design and Validation of a Custom NGS Panel Targeting a Set of Lysosomal Storage Diseases Candidate for NBS Applications

Lysosomal storage diseases (LSDs) are a heterogeneous group of approximately 70 monogenic metabolic disorders whose diagnosis represents an arduous challenge for clinicians due to their variability in phenotype penetrance, clinical manifestations, and high allelic heterogeneity. In recent years, the...

Descripción completa

Detalles Bibliográficos
Autores principales:	La Cognata, Valentina, Guarnaccia, Maria, Morello, Giovanna, Ruggieri, Martino, Polizzi, Agata, Cavallaro, Sebastiano
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2021
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8470217/ https://www.ncbi.nlm.nih.gov/pubmed/34576242 http://dx.doi.org/10.3390/ijms221810064

Ejemplares similares

Highlights on Genomics Applications for Lysosomal Storage Diseases
por: La Cognata, Valentina, et al.
Publicado: (2020)

Detection of Structural Variants by NGS: Revealing Missing Alleles in Lysosomal Storage Diseases
por: La Cognata, Valentina, et al.
Publicado: (2022)

A Comprehensive, Targeted NGS Approach to Assessing Molecular Diagnosis of Lysosomal Storage Diseases
por: La Cognata, Valentina, et al.
Publicado: (2021)

Cracking the Code of Neuronal Cell Fate
por: Morello, Giovanna, et al.
Publicado: (2023)

Detection of Single-Nucleotide and Copy Number Defects Underlying Hyperphenylalaninemia by Next-Generation Sequencing
por: Tendi, Elisabetta Anna, et al.
Publicado: (2023)

Copy Number Variations in Amyotrophic Lateral Sclerosis: Piecing the Mosaic Tiles Together through a Systems Biology Approach
por: Morello, Giovanna, et al.
Publicado: (2017)

A customized high-resolution array-comparative genomic hybridization to explore copy number variations in Parkinson’s disease
por: La Cognata, Valentina, et al.
Publicado: (2016)

Dysregulated miRNAs as Biomarkers and Therapeutical Targets in Neurodegenerative Diseases
por: Gentile, Giulia, et al.
Publicado: (2022)

Transcriptomic Analysis in the Hippocampus and Retina of Tg2576 AD Mice Reveals Defective Mitochondrial Oxidative Phosphorylation and Recovery by Tau 12A12mAb Treatment
por: Morello, Giovanna, et al.
Publicado: (2023)

Copy number variability in Parkinson’s disease: assembling the puzzle through a systems biology approach
por: La Cognata, Valentina, et al.
Publicado: (2016)

NeuroArray: A Customized aCGH for the Analysis of Copy Number Variations in Neurological Disorders
por: La Cognata, Valentina, et al.
Publicado: (2018)

Development of a Pharmacogenetic Lab-on-Chip Assay Based on the In-Check Technology to Screen for Genetic Variations Associated to Adverse Drug Reactions to Common Chemotherapeutic Agents
por: Iemmolo, Rosario, et al.
Publicado: (2020)

A Diagnostic Gene-Expression Signature in Fibroblasts of Amyotrophic Lateral Sclerosis
por: Morello, Giovanna, et al.
Publicado: (2023)

Omics Data and Their Integrative Analysis to Support Stratified Medicine in Neurodegenerative Diseases
por: La Cognata, Valentina, et al.
Publicado: (2021)

A Targeted Next-Generation Sequencing Panel to Genotype Gliomas
por: Guarnaccia, Maria, et al.
Publicado: (2022)

CXCR2 Is Deregulated in ALS Spinal Cord and Its Activation Triggers Apoptosis in Motor Neuron-Like Cells Overexpressing hSOD1-G93A
por: La Cognata, Valentina, et al.
Publicado: (2023)

The ε-Isozyme of Protein Kinase C (PKCε) Is Impaired in ALS Motor Cortex and Its Pulse Activation by Bryostatin-1 Produces Long Term Survival in Degenerating SOD1-G93A Motor Neuron-like Cells
por: La Cognata, Valentina, et al.
Publicado: (2023)

NeuroArray, A Custom CGH Microarray to Decipher Copy Number Variants in Alzheimer’s Disease
por: Cuccaro, Denis, et al.
Publicado: (2018)

Transcriptional Profiles of Cell Fate Transitions Reveal Early Drivers of Neuronal Apoptosis and Survival
por: Morello, Giovanna, et al.
Publicado: (2021)

Clinical utility of custom-designed NGS panel testing in pediatric tumors
por: Surrey, Lea F., et al.
Publicado: (2019)

Comprehensive Custom NGS Panel Validation for the Improvement of the Stratification of B-Acute Lymphoblastic Leukemia Patients
por: Montaño, Adrián, et al.
Publicado: (2020)

The Utility of Genomic Testing for Hyperphenylalaninemia
por: Tendi, Elisabetta Anna, et al.
Publicado: (2022)

Molecular Analysis of Biliary Tract Cancers with the Custom 3′ RACE-Based NGS Panel
por: Mitiushkina, Natalia V., et al.
Publicado: (2023)

Splicing: is there an alternative contribution to Parkinson’s disease?
por: La Cognata, Valentina, et al.
Publicado: (2015)

Selection and Prioritization of Candidate Drug Targets for Amyotrophic Lateral Sclerosis Through a Meta-Analysis Approach
por: Morello, Giovanna, et al.
Publicado: (2017)

Development and Validation of a Targeted ‘Liquid’ NGS Panel for Treatment Customization in Patients with Metastatic Colorectal Cancer
por: Kastrisiou, Myrto, et al.
Publicado: (2021)

Identification of New Genetic Determinants in Pediatric Patients with Familial Hypercholesterolemia Using a Custom NGS Panel
por: Rutkowska, Lena, et al.
Publicado: (2022)

Alternative Splicing Generates Different Parkin Protein Isoforms: Evidences in Human, Rat, and Mouse Brain
por: Scuderi, Soraya, et al.
Publicado: (2014)

Clinical implementation of gene panel testing for lysosomal storage diseases
por: Gheldof, Alexander, et al.
Publicado: (2018)

A Custom DNA-Based NGS Panel for the Molecular Characterization of Patients With Diffuse Gliomas: Diagnostic and Therapeutic Applications
por: Tirrò, Elena, et al.
Publicado: (2022)

Assessment of the clinical utility of four NGS panels in myeloid malignancies. Suggestions for NGS panel choice or design
por: Aguilera-Diaz, Almudena, et al.
Publicado: (2020)

Integrative multi-omic analysis identifies new drivers and pathways in molecularly distinct subtypes of ALS
por: Morello, Giovanna, et al.
Publicado: (2019)

NGS Custom Panel Implementation in Patients with Non-Syndromic Autism Spectrum Disorders in the Clinical Routine of a Tertiary Hospital
por: Sandoval-Talamantes, Ana Karen, et al.
Publicado: (2023)

Splicing Players Are Differently Expressed in Sporadic Amyotrophic Lateral Sclerosis Molecular Clusters and Brain Regions
por: La Cognata, Valentina, et al.
Publicado: (2020)

Validation of an NGS mutation detection panel for melanoma
por: Reiman, Anne, et al.
Publicado: (2017)

Lysosomes and Lysosomal Storage Diseases
por: Noebels, Jeffrey L.
Publicado: (1981)

Increasing the Coding Potential of Genomes Through Alternative Splicing: The Case of PARK2 Gene
por: Cognata, Valentina La, et al.
Publicado: (2014)

PanelDesign: Integrating Epidemiological Information into the Design of Diagnostic NGS Gene Panels
por: Schmidtke, Jörg, et al.
Publicado: (2022)

Assessing Lysosomal Disorders in the NGS Era: Identification of Novel Rare Variants
por: Encarnação, Marisa, et al.
Publicado: (2020)

PB2390: STUDY OF GENETIC ALTERATIONS USING A CUSTOM LYMPHOID TARGETED NGS PANEL IN PATIENTS WITH FOLLICULAR LYMPHOMA: A PILOT STUDY
por: Куневич, Евгений, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_h9ndkmquajarhtfuhi8p0s3rji