Cargando…

Whole exome sequencing and DNA methylation analysis in a clinical amyotrophic lateral sclerosis cohort

BACKGROUND: Gene discovery has provided remarkable biological insights into amyotrophic lateral sclerosis (ALS). One challenge for clinical application of genetic testing is critical evaluation of the significance of reported variants. METHODS: We use whole exome sequencing (WES) to develop a clinic...

Descripción completa

Detalles Bibliográficos
Autores principales:	Garton, Fleur C., Benyamin, Beben, Zhao, Qiongyi, Liu, Zhijun, Gratten, Jacob, Henders, Anjali K., Zhang, Zong‐Hong, Edson, Janette, Furlong, Sarah, Morgan, Sarah, Heggie, Susan, Thorpe, Kathryn, Pfluger, Casey, Mather, Karen A., Sachdev, Perminder S., McRae, Allan F., Robinson, Matthew R., Shah, Sonia, Visscher, Peter M., Mangelsdorf, Marie, Henderson, Robert D., Wray, Naomi R., McCombe, Pamela A.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2017
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5511806/ https://www.ncbi.nlm.nih.gov/pubmed/28717666 http://dx.doi.org/10.1002/mgg3.302

Ejemplares similares

Whole-exome sequencing in amyotrophic lateral sclerosis suggests NEK1 is a risk gene in Chinese
por: Gratten, Jacob, et al.
Publicado: (2017)

Significant out-of-sample classification from methylation profile scoring for amyotrophic lateral sclerosis
por: Nabais, Marta F., et al.
Publicado: (2020)

Novel Variants of ANO5 in Two Patients With Limb Girdle Muscular Dystrophy: Case Report
por: Katz, Matthew, et al.
Publicado: (2022)

Hypermetabolism in ALS is associated with greater functional decline and shorter survival
por: Steyn, Frederik J, et al.
Publicado: (2018)

Cross-ethnic meta-analysis identifies association of the GPX3-TNIP1 locus with amyotrophic lateral sclerosis
por: Benyamin, Beben, et al.
Publicado: (2017)

Apathy as a determinant of health behaviors in older adults: Implications for dementia risk reduction
por: Harrison, Fleur, et al.
Publicado: (2023)

Genome-wide Meta-analysis Finds the ACSL5-ZDHHC6 Locus Is Associated with ALS and Links Weight Loss to the Disease Genetics
por: Iacoangeli, Alfredo, et al.
Publicado: (2020)

Monocytes and neutrophils are associated with clinical features in amyotrophic lateral sclerosis
por: McGill, Raquel B, et al.
Publicado: (2020)

Phase 1b dose-escalation, safety, and pharmacokinetic study of IC14, a monoclonal antibody against CD14, for the treatment of amyotrophic lateral sclerosis
por: Henderson, Robert D., et al.
Publicado: (2021)

Case report: Adult-onset limb girdle muscular dystrophy in sibling pair due to novel homozygous LAMA2 missense variant
por: Katz, Matthew, et al.
Publicado: (2023)

Predicting gene targets from integrative analyses of summary data from GWAS and eQTL studies for 28 human complex traits
por: Pavlides, Jennifer M. Whitehead, et al.
Publicado: (2016)

The Short and Long-Term Effects of Pregnancy on Multiple Sclerosis and Experimental Autoimmune Encephalomyelitis
por: McCombe, Pamela A
Publicado: (2018)

10th International Conference on Electronic Properties of Two-dimensional Systems
por: McCombe, B D, et al.
Publicado: (1994)

The Role of Immune and Inflammatory Mechanisms in ALS
por: McCombe, P.A, et al.
Publicado: (2011)

The role of epigenetic mechanisms and processes in autoimmune disorders
por: Greer, Judith M, et al.
Publicado: (2012)

Effects of biological sex and pregnancy in experimental autoimmune encephalomyelitis: It’s complicated
por: McCombe, Pamela A., et al.
Publicado: (2022)

Genetic pleiotropy in complex traits and diseases: implications for genomic medicine
por: Gratten, Jacob, et al.
Publicado: (2016)

Nanostructures in Photovoltaics
por: Ando, T, et al.
Publicado: (2002)

Functional characterisation of the amyotrophic lateral sclerosis risk locus GPX3/TNIP1
por: Restuadi, Restuadi, et al.
Publicado: (2022)

Risk prediction of late-onset Alzheimer’s disease implies an oligogenic architecture
por: Zhang, Qian, et al.
Publicado: (2020)

Gene Expression in the Spinal Cord in Female Lewis Rats with Experimental Autoimmune Encephalomyelitis Induced with Myelin Basic Protein
por: Inglis, Hayley R., et al.
Publicado: (2012)

Examining the Impact of Imputation Errors on Fine-Mapping Using DNA Methylation QTL as a Model Trait
por: Chundru, V. Kartik, et al.
Publicado: (2019)

Unraveling the Genetic Etiology of Adult Antisocial Behavior: A Genome-Wide Association Study
por: Tielbeek, Jorim J., et al.
Publicado: (2012)

Meta-analysis of genome-wide DNA methylation identifies shared associations across neurodegenerative disorders
por: Nabais, Marta F., et al.
Publicado: (2021)

International Neuropsychiatric Association
por: Sachdev, Perminder
Publicado: (2005)

Quantifying motor recovery after stroke using independent vector analysis and graph-theoretical analysis()
por: Laney, Jonathan, et al.
Publicado: (2015)

Neurofilaments as Biomarkers for Amyotrophic Lateral Sclerosis: A Systematic Review and Meta-Analysis
por: Xu, Zhouwei, et al.
Publicado: (2016)

Age- and Sex-Related Topological Organization of Human Brain Functional Networks and Their Relationship to Cognition
por: Foo, Heidi, et al.
Publicado: (2021)

Age at first birth in women is genetically associated with increased risk of schizophrenia
por: Ni, Guiyan, et al.
Publicado: (2018)

Shared genetic control of expression and methylation in peripheral blood
por: Shakhbazov, Konstantin, et al.
Publicado: (2016)

Evaluating touchless capacitive gesture recognition as an assistive device for upper extremity mobility impairment
por: Nelson, Alexander, et al.
Publicado: (2018)

Reduced IκB-α Protein Levels in Peripheral Blood Cells of Patients with Multiple Sclerosis—A Possible Cause of Constitutive NF-κB Activation
por: Yan, Jun, et al.
Publicado: (2020)

Molecular plant immunity against biotrophic, hemibiotrophic, and necrotrophic fungi
por: McCombe, Carl L., et al.
Publicado: (2022)

Novel genetic variants associated with brain functional networks in 18,445 adults from the UK Biobank
por: Foo, Heidi, et al.
Publicado: (2021)

Aging Is Associated With Multidirectional Changes in Social Cognition: Findings From an Adult Life-Span Sample Ranging From 18 to 101 Years
por: Grainger, Sarah A, et al.
Publicado: (2022)

The Peripheral Immune System and Amyotrophic Lateral Sclerosis
por: McCombe, Pamela A., et al.
Publicado: (2020)

Potential for Paramedic roles in Irish General Practice: A qualitative study of stakeholder’s perspectives
por: Barry, Tomás, et al.
Publicado: (2022)

Sex differences in Guillain Barré syndrome, chronic inflammatory demyelinating polyradiculoneuropathy and experimental autoimmune neuritis
por: McCombe, Pamela A., et al.
Publicado: (2022)

Speaking up for balance: analysis of the gender of invited speakers at UK dental conferences
por: Heggie, Claudia, et al.
Publicado: (2021)

Harnessing brain and cognitive reserve for the prevention of dementia
por: Valenzuela, Michael, et al.
Publicado: (2009)

Cannot write session to /tmp/vufind_sessions/sess_9b4qvpg5h3q79lram3ins74fe2