Cargando…

SOD-1 Variants in Amyotrophic Lateral Sclerosis: Systematic Re-Evaluation According to ACMG-AMP Guidelines

Amyotrophic lateral sclerosis (ALS) is the most common type of motor neuron disease whose causes are unclear. The first ALS gene associated with the autosomal dominant form of the disease was SOD1. This gene has a high rate of rare variants, and an appropriate classification is essential for a corre...

Descripción completa

Detalles Bibliográficos
Autores principales:	Ruffo, Paola, Perrone, Benedetta, Conforti, Francesca Luisa
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2022
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8955492/ https://www.ncbi.nlm.nih.gov/pubmed/35328090 http://dx.doi.org/10.3390/genes13030537

Ejemplares similares

Individual Oligogenic Background in p.D91A-SOD1 Amyotrophic Lateral Sclerosis Patients
por: Gentile, Giulia, et al.
Publicado: (2021)

MAGI-ACMG: Algorithm for the Classification of Variants According to ACMG and ACGS Recommendations
por: Cristofoli, Francesca, et al.
Publicado: (2023)

Evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines
por: Ghosh, Rajarshi, et al.
Publicado: (2017)

Modeling the ACMG/AMP Variant Classification Guidelines as a Bayesian Classification Framework
por: Tavtigian, Sean V., et al.
Publicado: (2018)

APP, PSEN1, and PSEN2 Variants in Alzheimer’s Disease: Systematic Re-evaluation According to ACMG Guidelines
por: Xiao, Xuewen, et al.
Publicado: (2021)

Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss
por: Patel, Mayher J, et al.
Publicado: (2021)

SOD1 and Amyotrophic Lateral Sclerosis: Mutations and Oligomerization
por: Banci, Lucia, et al.
Publicado: (2008)

Metal-deficient SOD1 in amyotrophic lateral sclerosis
por: Hilton, James B., et al.
Publicado: (2015)

Novel F8 and F9 gene variants from the PedNet hemophilia registry classified according to ACMG/AMP guidelines
por: Andersson, Nadine G., et al.
Publicado: (2020)

A machine learning approach based on ACMG/AMP guidelines for genomic variant classification and prioritization
por: Nicora, Giovanna, et al.
Publicado: (2022)

Improving genetic diagnosis by disease-specific, ACMG/AMP variant interpretation guidelines for hearing loss
por: Kim, So Young, et al.
Publicado: (2022)

Deregulation of ncRNA in Neurodegenerative Disease: Focus on circRNA, lncRNA and miRNA in Amyotrophic Lateral Sclerosis
por: Ruffo, Paola, et al.
Publicado: (2021)

Is SOD1 loss of function involved in amyotrophic lateral sclerosis?
por: Saccon, Rachele A., et al.
Publicado: (2013)

Misfolded SOD1 pathology in sporadic Amyotrophic Lateral Sclerosis
por: Paré, Bastien, et al.
Publicado: (2018)

SOD1 mutations associated with amyotrophic lateral sclerosis analysis of variant severity
por: Berdyński, Mariusz, et al.
Publicado: (2022)

Clinical implications and considerations for evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines
por: Bean, Lora J. H., et al.
Publicado: (2017)

vaRHC: an R package for semi-automation of variant classification in hereditary cancer genes according to ACMG/AMP and gene-specific ClinGen guidelines
por: Munté, Elisabet, et al.
Publicado: (2023)

Sherloc: a comprehensive refinement of the ACMG–AMP variant classification criteria
por: Nykamp, Keith, et al.
Publicado: (2017)

A survey assessing adoption of the ACMG-AMP guidelines for interpreting sequence variants and identification of areas for continued improvement
por: Niehaus, Annie, et al.
Publicado: (2019)

A CRISPR and high-content imaging assay compliant with ACMG/AMP guidelines for clinical variant interpretation in ciliopathies
por: Nazlamova, Liliya, et al.
Publicado: (2020)

Structural and Functional Analysis of Human SOD1 in Amyotrophic Lateral Sclerosis
por: Moreira, Lorenna Giannini Alves, et al.
Publicado: (2013)

SOD1 misplacing and mitochondrial dysfunction in amyotrophic lateral sclerosis pathogenesis
por: Tafuri, Francesco, et al.
Publicado: (2015)

SOD1 in Amyotrophic Lateral Sclerosis: “Ambivalent” Behavior Connected to the Disease
por: Pansarasa, Orietta, et al.
Publicado: (2018)

Taxonomy Meets Neurology, the Case of Amyotrophic Lateral Sclerosis
por: Morello, Giovanna, et al.
Publicado: (2018)

Editorial: Multifaceted Genes in Amyotrophic Lateral Sclerosis-Frontotemporal Dementia
por: Conforti, Francesca Luisa, et al.
Publicado: (2021)

Correction: Sherloc: a comprehensive refinement of the ACMG–AMP variant classification criteria
por: Nykamp, Keith, et al.
Publicado: (2019)

ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines
por: Preston, Christine G., et al.
Publicado: (2022)

FUS and TARDBP but Not SOD1 Interact in Genetic Models of Amyotrophic Lateral Sclerosis
por: Kabashi, Edor, et al.
Publicado: (2011)

Mechanisms of mutant SOD1 induced mitochondrial toxicity in amyotrophic lateral sclerosis
por: Vehviläinen, Piia, et al.
Publicado: (2014)

Pathological Modification of TDP-43 in Amyotrophic Lateral Sclerosis with SOD1 Mutations
por: Jeon, Gye Sun, et al.
Publicado: (2018)

Expanding ACMG variant classification guidelines into a general framework
por: Masson, Emmanuelle, et al.
Publicado: (2022)

Muscle cells and motoneurons differentially remove mutant SOD1 causing familial amyotrophic lateral sclerosis
por: Onesto, Elisa, et al.
Publicado: (2011)

From Multi-Omics Approaches to Precision Medicine in Amyotrophic Lateral Sclerosis
por: Morello, Giovanna, et al.
Publicado: (2020)

Morpholino-mediated SOD1 reduction ameliorates an amyotrophic lateral sclerosis disease phenotype
por: Nizzardo, M., et al.
Publicado: (2016)

Soluble RAGE Treatment Delays Progression of Amyotrophic Lateral Sclerosis in SOD1 Mice
por: Juranek, Judyta K., et al.
Publicado: (2016)

Copper Homeostasis as a Therapeutic Target in Amyotrophic Lateral Sclerosis with SOD1 Mutations
por: Tokuda, Eiichi, et al.
Publicado: (2016)

A copper chaperone–mimetic polytherapy for SOD1-associated amyotrophic lateral sclerosis
por: McAlary, L., et al.
Publicado: (2022)

Amyotrophic lateral sclerosis with SOD1 mutations shows distinct brain metabolic changes
por: Canosa, Antonio, et al.
Publicado: (2022)

Iranian clinical practice guideline for amyotrophic lateral sclerosis
por: Boostani, Reza, et al.
Publicado: (2023)

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

Cannot write session to /tmp/vufind_sessions/sess_cd6239iq20q6m0pq6sgph0t9ai