Cargando…

Assessing Lysosomal Disorders in the NGS Era: Identification of Novel Rare Variants

Lysosomal storage diseases (LSDs) are a heterogeneous group of genetic disorders with variable degrees of severity and a broad phenotypic spectrum, which may overlap with a number of other conditions. While individually rare, as a group LSDs affect a significant number of patients, placing an import...

Descripción completa

Detalles Bibliográficos
Autores principales:	Encarnação, Marisa, Coutinho, Maria Francisca, Silva, Lisbeth, Ribeiro, Diogo, Ouesleti, Souad, Campos, Teresa, Santos, Helena, Martins, Esmeralda, Cardoso, Maria Teresa, Vilarinho, Laura, Alves, Sandra
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2020
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7503609/ https://www.ncbi.nlm.nih.gov/pubmed/32883051 http://dx.doi.org/10.3390/ijms21176355

Ejemplares similares

Molecular Characterization of a Novel Splicing Mutation Underlying Mucopolysaccharidosis (MPS) Type VI—Indirect Proof of Principle on Its Pathogenicity
por: Coutinho, Maria Francisca, et al.
Publicado: (2020)

NPC1 silent variant induces skipping of exon 11 (p.V562V) and unfolded protein response was found in a specific Niemann‐Pick type C patient
por: Encarnação, Marisa, et al.
Publicado: (2020)

Challenges in the Definitive Diagnosis of Niemann–Pick Type C—Leaky Variants and Alternative Transcripts
por: Encarnação, Marisa, et al.
Publicado: (2023)

MicroRNA Profile, Putative Diagnostic Biomarkers and RNA-Based Therapies in the Inherited Lipid Storage Disease Niemann-Pick Type C
por: Encarnação, Marisa, et al.
Publicado: (2023)

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

Less Is More: Substrate Reduction Therapy for Lysosomal Storage Disorders
por: Coutinho, Maria Francisca, et al.
Publicado: (2016)

Genetic Substrate Reduction Therapy: A Promising Approach for Lysosomal Storage Disorders
por: Coutinho, Maria Francisca, et al.
Publicado: (2016)

Role of RNA in Molecular Diagnosis of MADD Patients
por: Nogueira, Célia, et al.
Publicado: (2021)

Differential diagnosis of vacuolar myopathies in the NGS era
por: Mair, Dorothea, et al.
Publicado: (2020)

Leigh Syndrome Spectrum: A Portuguese Population Cohort in an Evolutionary Genetic Era
por: Baldo, Manuela Schubert, et al.
Publicado: (2023)

Lipid Antigen Presentation by CD1b and CD1d in Lysosomal Storage Disease Patients
por: Pereira, Catia S., et al.
Publicado: (2019)

Coutinho et al. Less Is More: Substrate Reduction Therapy for Lysosomal Storage Disorders. Int. J. Mol. Sci. 2016, 17, 1065
por: Coutinho, Maria Francisca, et al.
Publicado: (2017)

Neurological Disease Modeling Using Pluripotent and Multipotent Stem Cells: A Key Step towards Understanding and Treating Mucopolysaccharidoses
por: Carvalho, Sofia, et al.
Publicado: (2023)

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

Splicing Modulation as a Promising Therapeutic Strategy for Lysosomal Storage Disorders: The Mucopolysaccharidoses Example
por: Santos, Juliana Inês, et al.
Publicado: (2022)

Design and Validation of a Custom NGS Panel Targeting a Set of Lysosomal Storage Diseases Candidate for NBS Applications
por: La Cognata, Valentina, et al.
Publicado: (2021)

Fine mapping and gene cloning in the post-NGS era: advances and prospects
por: Jaganathan, Deepa, et al.
Publicado: (2020)

The study of organelle DNA variability in alloplasmic barley lines in the NGS era
por: Siniauskaya, M.G., et al.
Publicado: (2020)

Effect of Ionizing Radiation on the Microbiological Safety and Phytochemical Properties of Cooked Malva sylvestris L.
por: Ben Salem, Issam, et al.
Publicado: (2018)

Leukocyte Imbalances in Mucopolysaccharidoses Patients
por: Lopes, Nuno, et al.
Publicado: (2023)

NGS-Logistics: federated analysis of NGS sequence variants across multiple locations
por: Ardeshirdavani, Amin, et al.
Publicado: (2014)

Genetic Analysis of Arrhythmogenic Diseases in the Era of NGS: The Complexity of Clinical Decision-Making in Brugada Syndrome
por: Allegue, Catarina, et al.
Publicado: (2015)

Determining the Cause of Recurrent Miscarriages in a Couple: Importance of NOR in the Era of NGS
por: Dutta, Usha R., et al.
Publicado: (2019)

NGS-eval: NGS Error analysis and novel sequence VAriant detection tooL
por: May, Ali, et al.
Publicado: (2015)

NGS analysis in Marfan syndrome spectrum: Combination of rare and common genetic variants to improve genotype-phenotype correlation analysis
por: Gentilini, Davide, et al.
Publicado: (2019)

Phenylketonuria in Portugal: Genotype–phenotype correlations using molecular, biochemical, and haplotypic analyses
por: Ferreira, Filipa, et al.
Publicado: (2021)

NGS-Logistics: data infrastructure for efficient analysis of NGS sequence variants across multiple centers
por: Ardeshirdavani, Amin, et al.
Publicado: (2015)

A Rab3a-dependent complex essential for lysosome positioning and plasma membrane repair
por: Encarnação, Marisa, et al.
Publicado: (2016)

Lysosomal Storage Disease-Associated Neuropathy: Targeting Stable Nucleic Acid Lipid Particle (SNALP)-Formulated siRNAs to the Brain as a Therapeutic Approach
por: Coutinho, Maria Francisca, et al.
Publicado: (2020)

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)

Simplifier: a web tool to eliminate redundant NGS contigs
por: Ramos, Rommel Thiago Jucá, et al.
Publicado: (2012)

PB1779: FLT3-ITD MUTATION CHARACTERIZATION WITH CLASSICAL PCR METHODOLOGY VERSUS CAPTURE- AND AMPLICON-BASED NGS PLATFORMS: A PETHEMA NGS-AML PROJECT
por: Bilbao, Cristina, et al.
Publicado: (2023)

NGS in Hereditary Ataxia: When Rare Becomes Frequent
por: Galatolo, Daniele, et al.
Publicado: (2021)

Rare Does Not Mean Worthless: How Rare Diseases Have Shaped Neurodevelopment Research in the NGS Era
por: Zaghi, Mattia, et al.
Publicado: (2021)

Understanding the Basics of NGS: From Mechanism to Variant Calling
por: Muzzey, Dale, et al.
Publicado: (2015)

Addendum to the NGS report
por: CERN. Geneva. SPS-PS Experiments Committee
Publicado: (1999)

Editorial: NGS technologies of rare diseases diagnosis
por: Couce, María L., et al.
Publicado: (2022)

CSI NGS Portal: An Online Platform for Automated NGS Data Analysis and Sharing
por: An, Omer, et al.
Publicado: (2020)

ngsComposer: an automated pipeline for empirically based NGS data quality filtering
por: Kuster, Ryan D, et al.
Publicado: (2021)

Germline and somatic variants in ovarian carcinoma: A next-generation sequencing (NGS) analysis
por: Andrikopoulou, Angeliki, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_u1foll8o01oebnuv8720uhqb03